Incidental Mutation 'R1900:Dysf'
ID 214184
Institutional Source Beutler Lab
Gene Symbol Dysf
Ensembl Gene ENSMUSG00000033788
Gene Name dysferlin
Synonyms 2310004N10Rik
MMRRC Submission 039920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1900 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 83985572-84188042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 84016549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 70 (V70G)
Ref Sequence ENSEMBL: ENSMUSP00000144748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081904] [ENSMUST00000089595] [ENSMUST00000113818] [ENSMUST00000113821] [ENSMUST00000113823] [ENSMUST00000153860] [ENSMUST00000168387] [ENSMUST00000204987] [ENSMUST00000203695] [ENSMUST00000203803] [ENSMUST00000204354] [ENSMUST00000204591]
AlphaFold Q9ESD7
Predicted Effect possibly damaging
Transcript: ENSMUST00000081904
AA Change: V70G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080579
Gene: ENSMUSG00000033788
AA Change: V70G

DomainStartEndE-ValueType
C2 1 101 2.11e-14 SMART
low complexity region 126 147 N/A INTRINSIC
low complexity region 213 232 N/A INTRINSIC
C2 255 351 4.84e-14 SMART
FerI 337 408 5.3e-39 SMART
C2 414 528 2.96e-9 SMART
FerA 714 779 6.3e-23 SMART
FerB 806 880 2.49e-44 SMART
DysFN 894 953 1.42e-22 SMART
DysFN 966 1022 2.65e-22 SMART
DysFC 1031 1069 1.33e-13 SMART
DysFC 1088 1121 1.1e-10 SMART
C2 1173 1281 2.63e-15 SMART
C2 1350 1457 7.13e0 SMART
C2 1599 1698 2.52e-12 SMART
C2 1832 1961 1.55e-3 SMART
Pfam:Ferlin_C 1991 2095 6.7e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000089595
AA Change: V70G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087022
Gene: ENSMUSG00000033788
AA Change: V70G

DomainStartEndE-ValueType
C2 1 101 2.11e-14 SMART
low complexity region 126 147 N/A INTRINSIC
low complexity region 182 201 N/A INTRINSIC
C2 224 320 4.84e-14 SMART
FerI 306 377 5.3e-39 SMART
C2 383 497 1.12e-9 SMART
FerA 697 762 6.3e-23 SMART
FerB 789 863 2.49e-44 SMART
DysFN 877 936 1.42e-22 SMART
DysFN 949 1005 2.65e-22 SMART
DysFC 1014 1052 1.33e-13 SMART
DysFC 1071 1104 1.1e-10 SMART
C2 1156 1264 2.63e-15 SMART
C2 1333 1440 7.13e0 SMART
C2 1582 1681 2.52e-12 SMART
C2 1815 1944 1.55e-3 SMART
Pfam:Ferlin_C 1974 2078 3.7e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113818
AA Change: V70G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109449
Gene: ENSMUSG00000033788
AA Change: V70G

DomainStartEndE-ValueType
C2 1 101 2.11e-14 SMART
low complexity region 126 147 N/A INTRINSIC
low complexity region 182 201 N/A INTRINSIC
C2 224 320 4.84e-14 SMART
FerI 306 377 5.3e-39 SMART
C2 383 497 2.96e-9 SMART
FerA 683 748 6.3e-23 SMART
FerB 775 849 2.49e-44 SMART
DysFN 863 922 1.42e-22 SMART
DysFN 935 991 2.65e-22 SMART
DysFC 1000 1038 1.33e-13 SMART
DysFC 1057 1090 1.1e-10 SMART
C2 1142 1250 2.63e-15 SMART
C2 1319 1426 7.13e0 SMART
C2 1568 1667 2.52e-12 SMART
C2 1801 1930 1.55e-3 SMART
transmembrane domain 2034 2056 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113821
AA Change: V69G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109452
Gene: ENSMUSG00000033788
AA Change: V69G

DomainStartEndE-ValueType
C2 1 100 1.62e-15 SMART
low complexity region 125 146 N/A INTRINSIC
low complexity region 181 200 N/A INTRINSIC
C2 223 319 4.84e-14 SMART
FerI 305 376 5.3e-39 SMART
C2 382 496 1.12e-9 SMART
FerA 696 761 6.3e-23 SMART
FerB 788 862 2.49e-44 SMART
DysFN 876 935 1.42e-22 SMART
DysFN 948 1004 2.65e-22 SMART
DysFC 1013 1051 1.33e-13 SMART
DysFC 1070 1103 1.1e-10 SMART
C2 1155 1263 2.63e-15 SMART
C2 1332 1439 7.13e0 SMART
C2 1581 1680 2.52e-12 SMART
C2 1814 1943 1.55e-3 SMART
transmembrane domain 2047 2069 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000113823
AA Change: V69G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109454
Gene: ENSMUSG00000033788
AA Change: V69G

DomainStartEndE-ValueType
C2 1 100 1.62e-15 SMART
low complexity region 125 146 N/A INTRINSIC
low complexity region 212 231 N/A INTRINSIC
C2 254 350 4.84e-14 SMART
FerI 336 407 5.3e-39 SMART
C2 413 527 2.96e-9 SMART
FerA 713 778 6.3e-23 SMART
FerB 805 879 2.49e-44 SMART
DysFN 893 952 1.42e-22 SMART
DysFN 965 1021 2.65e-22 SMART
DysFC 1030 1068 1.33e-13 SMART
DysFC 1087 1120 1.1e-10 SMART
C2 1172 1280 2.63e-15 SMART
C2 1349 1456 7.13e0 SMART
C2 1598 1697 2.52e-12 SMART
C2 1831 1960 1.55e-3 SMART
transmembrane domain 2064 2086 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000153860
AA Change: V69G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145518
Gene: ENSMUSG00000033788
AA Change: V69G

DomainStartEndE-ValueType
C2 1 100 1.1e-17 SMART
low complexity region 125 146 N/A INTRINSIC
low complexity region 181 200 N/A INTRINSIC
C2 223 319 3.2e-16 SMART
FerI 305 376 2.6e-43 SMART
C2 382 496 7.4e-12 SMART
FerA 696 761 3.1e-27 SMART
FerB 788 862 1.2e-48 SMART
DysFN 876 935 5.3e-25 SMART
DysFN 948 1004 9.6e-25 SMART
DysFC 1013 1051 4.7e-16 SMART
DysFC 1070 1103 4.1e-13 SMART
C2 1155 1263 1.7e-17 SMART
C2 1332 1439 4.7e-2 SMART
C2 1602 1701 1.7e-14 SMART
C2 1835 1964 1.1e-5 SMART
Pfam:Ferlin_C 1994 2098 4.4e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000168387
AA Change: V69G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132297
Gene: ENSMUSG00000033788
AA Change: V69G

DomainStartEndE-ValueType
C2 1 100 1.62e-15 SMART
low complexity region 125 146 N/A INTRINSIC
low complexity region 181 200 N/A INTRINSIC
C2 223 319 4.84e-14 SMART
FerI 305 376 5.3e-39 SMART
C2 382 496 1.12e-9 SMART
FerA 704 769 6.3e-23 SMART
FerB 796 870 2.49e-44 SMART
DysFN 884 943 1.42e-22 SMART
DysFN 956 1012 2.65e-22 SMART
DysFC 1021 1059 1.33e-13 SMART
DysFC 1078 1111 1.1e-10 SMART
C2 1163 1271 2.63e-15 SMART
C2 1340 1447 7.13e0 SMART
C2 1589 1688 2.52e-12 SMART
C2 1822 1951 1.55e-3 SMART
transmembrane domain 2055 2077 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000204987
AA Change: V70G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144748
Gene: ENSMUSG00000033788
AA Change: V70G

DomainStartEndE-ValueType
C2 1 101 1.4e-16 SMART
low complexity region 126 147 N/A INTRINSIC
low complexity region 182 201 N/A INTRINSIC
C2 224 320 3.2e-16 SMART
FerI 306 377 2.6e-43 SMART
C2 383 497 7.4e-12 SMART
FerA 697 762 3.1e-27 SMART
FerB 789 863 1.2e-48 SMART
DysFN 877 936 5.3e-25 SMART
DysFN 949 1005 9.6e-25 SMART
DysFC 1014 1052 4.7e-16 SMART
DysFC 1071 1104 4.1e-13 SMART
C2 1156 1264 1.7e-17 SMART
C2 1333 1440 4.7e-2 SMART
C2 1603 1702 1.7e-14 SMART
C2 1836 1965 1.1e-5 SMART
Pfam:Ferlin_C 1995 2099 4.4e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203695
AA Change: V70G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145292
Gene: ENSMUSG00000033788
AA Change: V70G

DomainStartEndE-ValueType
C2 1 101 1.4e-16 SMART
low complexity region 126 147 N/A INTRINSIC
low complexity region 213 232 N/A INTRINSIC
C2 255 351 3.2e-16 SMART
FerI 337 408 2.6e-43 SMART
C2 414 528 7.4e-12 SMART
FerA 728 793 3.1e-27 SMART
FerB 820 894 1.2e-48 SMART
DysFN 908 967 5.3e-25 SMART
DysFN 980 1036 9.6e-25 SMART
DysFC 1045 1083 4.7e-16 SMART
DysFC 1102 1135 4.1e-13 SMART
C2 1187 1295 1.7e-17 SMART
C2 1364 1471 4.7e-2 SMART
C2 1613 1712 1.7e-14 SMART
C2 1846 1975 1.1e-5 SMART
Pfam:Ferlin_C 2005 2109 4.4e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203803
AA Change: V69G

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145511
Gene: ENSMUSG00000033788
AA Change: V69G

DomainStartEndE-ValueType
C2 1 100 1.1e-17 SMART
low complexity region 125 146 N/A INTRINSIC
low complexity region 212 231 N/A INTRINSIC
C2 254 350 3.2e-16 SMART
FerI 336 407 2.6e-43 SMART
C2 413 527 7.4e-12 SMART
FerA 727 792 3.1e-27 SMART
FerB 819 893 1.2e-48 SMART
DysFN 907 966 5.3e-25 SMART
DysFN 979 1035 9.6e-25 SMART
DysFC 1044 1082 4.7e-16 SMART
DysFC 1101 1134 4.1e-13 SMART
C2 1186 1294 1.7e-17 SMART
C2 1353 1460 4.7e-2 SMART
C2 1602 1701 1.7e-14 SMART
C2 1835 1964 1.1e-5 SMART
Pfam:Ferlin_C 1994 2098 4.4e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204354
AA Change: V70G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144705
Gene: ENSMUSG00000033788
AA Change: V70G

DomainStartEndE-ValueType
C2 1 101 1.4e-16 SMART
low complexity region 126 147 N/A INTRINSIC
low complexity region 182 201 N/A INTRINSIC
C2 224 320 3.2e-16 SMART
FerI 306 377 2.6e-43 SMART
C2 383 497 2e-11 SMART
FerA 683 748 3.1e-27 SMART
FerB 775 849 1.2e-48 SMART
DysFN 863 922 5.3e-25 SMART
DysFN 935 991 9.6e-25 SMART
DysFC 1000 1038 4.7e-16 SMART
DysFC 1057 1090 4.1e-13 SMART
C2 1142 1250 1.7e-17 SMART
C2 1319 1426 4.7e-2 SMART
C2 1589 1688 1.7e-14 SMART
C2 1822 1951 1.1e-5 SMART
Pfam:Ferlin_C 1981 2085 4.4e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000204591
AA Change: V69G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144970
Gene: ENSMUSG00000033788
AA Change: V69G

DomainStartEndE-ValueType
C2 1 100 1.1e-17 SMART
low complexity region 125 146 N/A INTRINSIC
low complexity region 212 231 N/A INTRINSIC
C2 254 350 3.2e-16 SMART
FerI 336 407 2.6e-43 SMART
C2 413 527 2e-11 SMART
FerA 713 778 3.1e-27 SMART
FerB 805 879 1.2e-48 SMART
DysFN 893 952 5.3e-25 SMART
DysFN 965 1021 9.6e-25 SMART
DysFC 1030 1068 4.7e-16 SMART
DysFC 1087 1120 4.1e-13 SMART
C2 1172 1280 1.7e-17 SMART
C2 1349 1456 4.7e-2 SMART
C2 1619 1718 1.7e-14 SMART
C2 1852 1981 1.1e-5 SMART
Pfam:Ferlin_C 2011 2115 4.4e-22 PFAM
Meta Mutation Damage Score 0.9452 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 96% (100/104)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6330409D20Rik T C 2: 32,630,559 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,729 (GRCm39) I221V probably benign Het
Ankfy1 C T 11: 72,645,233 (GRCm39) Q771* probably null Het
Ankrd50 T C 3: 38,509,536 (GRCm39) T944A probably damaging Het
Armh4 T C 14: 50,008,040 (GRCm39) T478A probably damaging Het
AU040320 A C 4: 126,747,073 (GRCm39) probably null Het
Axdnd1 A G 1: 156,208,344 (GRCm39) probably null Het
Cdadc1 A T 14: 59,823,981 (GRCm39) D170E probably damaging Het
Cep164 C A 9: 45,721,123 (GRCm39) R93L probably damaging Het
Cep250 T C 2: 155,827,294 (GRCm39) probably null Het
Cfdp1 G A 8: 112,495,361 (GRCm39) R286* probably null Het
Chrdl2 A G 7: 99,682,871 (GRCm39) I377V possibly damaging Het
Cntrob A T 11: 69,198,880 (GRCm39) S623T probably benign Het
Col6a5 C T 9: 105,808,412 (GRCm39) G879S unknown Het
Cyp2c38 T A 19: 39,426,756 (GRCm39) I182F probably benign Het
Dennd4a T C 9: 64,804,618 (GRCm39) V1319A probably damaging Het
Edn3 A G 2: 174,603,398 (GRCm39) T49A possibly damaging Het
Elac1 C G 18: 73,872,316 (GRCm39) L226F probably damaging Het
Eps8l3 A G 3: 107,798,268 (GRCm39) D445G probably benign Het
Fgf11 G T 11: 69,692,279 (GRCm39) T58K probably benign Het
Fstl5 T A 3: 76,615,467 (GRCm39) W843R probably damaging Het
Fyb2 A G 4: 104,802,652 (GRCm39) R185G probably benign Het
Gal3st2c G A 1: 93,936,766 (GRCm39) R237H probably damaging Het
Galnt15 G T 14: 31,771,822 (GRCm39) R289L probably damaging Het
Garin4 T A 1: 190,896,631 (GRCm39) K4M possibly damaging Het
Gdf5 T A 2: 155,784,001 (GRCm39) D317V probably damaging Het
Gm7808 A G 9: 19,839,410 (GRCm39) probably benign Het
Hcn3 T C 3: 89,055,570 (GRCm39) E559G probably benign Het
Hdlbp A T 1: 93,349,959 (GRCm39) probably benign Het
Hhip T C 8: 80,701,675 (GRCm39) T620A probably benign Het
Hs3st3a1 T C 11: 64,411,268 (GRCm39) S269P probably damaging Het
Il17ra A T 6: 120,454,355 (GRCm39) probably null Het
Kif2a T C 13: 107,113,503 (GRCm39) N417S possibly damaging Het
Klhl41 T A 2: 69,504,963 (GRCm39) probably benign Het
L3mbtl4 G T 17: 68,766,800 (GRCm39) C169F probably damaging Het
Lap3 T C 5: 45,669,252 (GRCm39) F467S probably damaging Het
Lpar6 A T 14: 73,476,579 (GRCm39) Y180F probably benign Het
Lrig3 T C 10: 125,838,262 (GRCm39) probably benign Het
Ltbp2 A T 12: 84,877,432 (GRCm39) S378T probably damaging Het
Ltf T C 9: 110,851,913 (GRCm39) F117L possibly damaging Het
Med16 T C 10: 79,734,765 (GRCm39) E533G probably damaging Het
Meltf T C 16: 31,700,787 (GRCm39) probably null Het
Mphosph10 C T 7: 64,030,776 (GRCm39) E488K possibly damaging Het
Mroh1 A G 15: 76,317,585 (GRCm39) T812A probably benign Het
Mto1 T C 9: 78,368,799 (GRCm39) probably benign Het
Ndst1 A T 18: 60,845,793 (GRCm39) probably null Het
Ndst4 T A 3: 125,491,544 (GRCm39) probably null Het
Nhlh1 A T 1: 171,881,608 (GRCm39) I86N probably damaging Het
Nme9 A C 9: 99,341,827 (GRCm39) D59A probably damaging Het
Nox4 A T 7: 87,010,004 (GRCm39) R402* probably null Het
Npr1 T C 3: 90,369,495 (GRCm39) D410G probably damaging Het
Nrip1 T A 16: 76,088,927 (GRCm39) T877S probably benign Het
Nsd2 A G 5: 34,003,513 (GRCm39) N221S probably benign Het
Ophn1 A T X: 97,769,665 (GRCm39) Y181* probably null Het
Or13a28 A T 7: 140,218,505 (GRCm39) D297V probably damaging Het
Or1e17 C A 11: 73,831,486 (GRCm39) P138Q possibly damaging Het
Or4c123 T C 2: 89,127,014 (GRCm39) N200S probably damaging Het
Or51ac3 A T 7: 103,213,814 (GRCm39) L224* probably null Het
Or51f5 A T 7: 102,424,538 (GRCm39) H269L probably benign Het
Or5b109 T A 19: 13,212,277 (GRCm39) I221K possibly damaging Het
Or8c10 A T 9: 38,279,360 (GRCm39) I173L probably benign Het
Parp1 A G 1: 180,424,904 (GRCm39) K819R probably damaging Het
Parp9 T C 16: 35,792,591 (GRCm39) S829P probably benign Het
Pde6c T A 19: 38,150,388 (GRCm39) F511Y probably damaging Het
Per3 G T 4: 151,125,883 (GRCm39) H145Q probably damaging Het
Pglyrp1 C T 7: 18,624,151 (GRCm39) R145W probably damaging Het
Piezo1 T C 8: 123,209,384 (GRCm39) probably benign Het
Plb1 T C 5: 32,444,191 (GRCm39) I312T probably benign Het
Plin3 T A 17: 56,586,824 (GRCm39) T408S possibly damaging Het
Polr2a A T 11: 69,634,772 (GRCm39) I636N probably damaging Het
Pramel51 A C 12: 88,144,030 (GRCm39) L261R probably benign Het
Prb1b A T 6: 132,291,661 (GRCm39) L11Q unknown Het
Prex2 G T 1: 11,232,590 (GRCm39) E886* probably null Het
Proca1 A T 11: 78,095,847 (GRCm39) I73F probably damaging Het
Ptpn6 A G 6: 124,705,896 (GRCm39) S83P probably benign Het
Rtp1 G T 16: 23,248,049 (GRCm39) V41L probably benign Het
Scn4a A G 11: 106,218,359 (GRCm39) I1035T probably damaging Het
Sell A T 1: 163,892,907 (GRCm39) Y41F probably damaging Het
Serping1 C T 2: 84,601,793 (GRCm39) V226M probably damaging Het
Sf3b1 A T 1: 55,037,347 (GRCm39) D856E possibly damaging Het
Sfmbt1 T A 14: 30,524,524 (GRCm39) Y503N probably damaging Het
Slc16a1 T A 3: 104,560,880 (GRCm39) V395D probably damaging Het
Slc22a7 A T 17: 46,749,157 (GRCm39) D53E probably benign Het
Slc35b3 A G 13: 39,144,587 (GRCm39) probably null Het
Slc6a1 T C 6: 114,288,815 (GRCm39) M274T possibly damaging Het
Slco1a5 A G 6: 142,187,789 (GRCm39) S517P probably benign Het
Smo A G 6: 29,736,055 (GRCm39) R16G unknown Het
Srebf1 A G 11: 60,094,312 (GRCm39) L601P probably damaging Het
Sspo A G 6: 48,436,284 (GRCm39) I1086M probably benign Het
Tas2r106 A T 6: 131,655,373 (GRCm39) N159K probably damaging Het
Thsd1 G A 8: 22,742,334 (GRCm39) probably benign Het
Tmeff1 T C 4: 48,658,938 (GRCm39) probably benign Het
Tmem140 G A 6: 34,849,838 (GRCm39) C118Y possibly damaging Het
Tmem168 A G 6: 13,583,070 (GRCm39) C220R probably benign Het
Tox2 A T 2: 163,118,087 (GRCm39) N129Y probably damaging Het
Trappc12 C T 12: 28,796,984 (GRCm39) E183K probably damaging Het
Unc50 A G 1: 37,477,880 (GRCm39) Y254C probably damaging Het
Unk T G 11: 115,949,907 (GRCm39) D691E probably benign Het
Uox T A 3: 146,316,134 (GRCm39) V23D probably damaging Het
Vps13d A G 4: 144,853,176 (GRCm39) C2313R probably benign Het
Zfp804b T A 5: 6,819,283 (GRCm39) H1260L probably damaging Het
Zfyve26 A G 12: 79,311,125 (GRCm39) L147P probably damaging Het
Zmynd10 A T 9: 107,427,236 (GRCm39) Q288L probably benign Het
Zzef1 T A 11: 72,739,540 (GRCm39) D662E probably damaging Het
Other mutations in Dysf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Dysf APN 6 84,085,081 (GRCm39) missense probably damaging 1.00
IGL00340:Dysf APN 6 84,118,933 (GRCm39) missense probably benign 0.02
IGL00429:Dysf APN 6 84,166,826 (GRCm39) missense probably damaging 1.00
IGL00465:Dysf APN 6 84,176,830 (GRCm39) critical splice donor site probably null
IGL00800:Dysf APN 6 84,126,980 (GRCm39) missense probably damaging 1.00
IGL01069:Dysf APN 6 84,176,767 (GRCm39) missense possibly damaging 0.94
IGL01094:Dysf APN 6 84,171,368 (GRCm39) missense probably damaging 1.00
IGL01420:Dysf APN 6 84,126,741 (GRCm39) nonsense probably null
IGL01649:Dysf APN 6 84,176,821 (GRCm39) missense probably damaging 1.00
IGL01923:Dysf APN 6 84,187,811 (GRCm39) makesense probably null
IGL01991:Dysf APN 6 84,090,600 (GRCm39) missense probably damaging 1.00
IGL01999:Dysf APN 6 84,090,600 (GRCm39) missense probably damaging 1.00
IGL02002:Dysf APN 6 84,187,769 (GRCm39) splice site probably benign
IGL02136:Dysf APN 6 84,085,149 (GRCm39) missense probably benign 0.43
IGL02318:Dysf APN 6 84,163,446 (GRCm39) missense possibly damaging 0.50
IGL02378:Dysf APN 6 84,088,887 (GRCm39) missense probably damaging 1.00
IGL02404:Dysf APN 6 84,093,043 (GRCm39) missense probably damaging 1.00
IGL02416:Dysf APN 6 84,169,896 (GRCm39) missense possibly damaging 0.92
IGL02535:Dysf APN 6 84,126,679 (GRCm39) missense possibly damaging 0.45
IGL02553:Dysf APN 6 84,107,109 (GRCm39) missense possibly damaging 0.95
IGL02559:Dysf APN 6 84,044,428 (GRCm39) splice site probably benign
IGL02563:Dysf APN 6 84,163,498 (GRCm39) splice site probably benign
IGL02647:Dysf APN 6 84,114,355 (GRCm39) missense probably damaging 1.00
IGL02820:Dysf APN 6 84,077,187 (GRCm39) missense probably damaging 0.99
IGL02858:Dysf APN 6 84,076,471 (GRCm39) missense probably benign 0.01
IGL02860:Dysf APN 6 84,167,880 (GRCm39) critical splice donor site probably null
IGL02861:Dysf APN 6 84,016,519 (GRCm39) missense probably damaging 0.99
IGL03008:Dysf APN 6 84,050,876 (GRCm39) missense probably benign 0.01
IGL03023:Dysf APN 6 84,169,989 (GRCm39) missense probably damaging 1.00
IGL03074:Dysf APN 6 84,165,208 (GRCm39) missense probably benign 0.25
IGL03342:Dysf APN 6 84,167,854 (GRCm39) missense probably benign
PIT4305001:Dysf UTSW 6 84,077,216 (GRCm39) nonsense probably null
R0067:Dysf UTSW 6 84,040,313 (GRCm39) missense possibly damaging 0.58
R0106:Dysf UTSW 6 84,090,318 (GRCm39) missense probably benign 0.07
R0106:Dysf UTSW 6 84,090,318 (GRCm39) missense probably benign 0.07
R0124:Dysf UTSW 6 84,042,084 (GRCm39) splice site probably benign
R0219:Dysf UTSW 6 84,106,443 (GRCm39) splice site probably benign
R0238:Dysf UTSW 6 84,041,461 (GRCm39) nonsense probably null
R0238:Dysf UTSW 6 84,041,461 (GRCm39) nonsense probably null
R0239:Dysf UTSW 6 84,041,461 (GRCm39) nonsense probably null
R0239:Dysf UTSW 6 84,041,461 (GRCm39) nonsense probably null
R0426:Dysf UTSW 6 84,126,739 (GRCm39) missense probably damaging 1.00
R0455:Dysf UTSW 6 84,117,649 (GRCm39) missense probably benign 0.29
R0482:Dysf UTSW 6 84,129,387 (GRCm39) missense probably benign 0.03
R0545:Dysf UTSW 6 84,076,443 (GRCm39) missense probably damaging 0.99
R0625:Dysf UTSW 6 84,088,969 (GRCm39) splice site probably null
R0676:Dysf UTSW 6 84,090,318 (GRCm39) missense probably benign 0.07
R0699:Dysf UTSW 6 84,167,828 (GRCm39) missense probably benign 0.00
R1165:Dysf UTSW 6 84,044,051 (GRCm39) missense probably damaging 0.98
R1455:Dysf UTSW 6 84,090,368 (GRCm39) missense probably benign 0.01
R1582:Dysf UTSW 6 84,074,749 (GRCm39) missense probably damaging 1.00
R1584:Dysf UTSW 6 84,044,029 (GRCm39) missense probably benign 0.04
R1605:Dysf UTSW 6 84,083,923 (GRCm39) missense probably damaging 0.96
R1674:Dysf UTSW 6 84,156,697 (GRCm39) missense probably benign 0.01
R1739:Dysf UTSW 6 84,089,217 (GRCm39) critical splice donor site probably null
R1765:Dysf UTSW 6 84,167,884 (GRCm39) splice site probably null
R1813:Dysf UTSW 6 84,128,906 (GRCm39) missense possibly damaging 0.83
R1960:Dysf UTSW 6 84,050,885 (GRCm39) missense probably benign 0.12
R2216:Dysf UTSW 6 84,184,227 (GRCm39) splice site probably null
R2242:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R2243:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R2245:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R2246:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R2280:Dysf UTSW 6 84,041,476 (GRCm39) missense probably damaging 0.99
R2374:Dysf UTSW 6 84,074,711 (GRCm39) missense probably damaging 1.00
R2403:Dysf UTSW 6 84,016,549 (GRCm39) missense possibly damaging 0.84
R2763:Dysf UTSW 6 84,083,914 (GRCm39) missense probably benign 0.00
R2895:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R2916:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R2918:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R3402:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R3403:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R3434:Dysf UTSW 6 84,047,870 (GRCm39) missense probably benign 0.00
R3772:Dysf UTSW 6 84,129,333 (GRCm39) missense possibly damaging 0.63
R3781:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R3789:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R3822:Dysf UTSW 6 84,184,070 (GRCm39) splice site probably benign
R3918:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R3919:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R3939:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R3942:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R4177:Dysf UTSW 6 84,044,013 (GRCm39) nonsense probably null
R4179:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R4180:Dysf UTSW 6 84,163,491 (GRCm39) critical splice donor site probably null
R4299:Dysf UTSW 6 84,045,059 (GRCm39) missense possibly damaging 0.78
R4419:Dysf UTSW 6 84,184,224 (GRCm39) critical splice donor site probably null
R4446:Dysf UTSW 6 84,182,854 (GRCm39) missense probably damaging 1.00
R4577:Dysf UTSW 6 84,114,308 (GRCm39) missense probably damaging 1.00
R4680:Dysf UTSW 6 84,074,697 (GRCm39) missense probably damaging 0.99
R4708:Dysf UTSW 6 84,074,697 (GRCm39) missense probably damaging 0.99
R4709:Dysf UTSW 6 84,074,697 (GRCm39) missense probably damaging 0.99
R4710:Dysf UTSW 6 84,074,697 (GRCm39) missense probably damaging 0.99
R4725:Dysf UTSW 6 84,074,738 (GRCm39) missense probably damaging 1.00
R4742:Dysf UTSW 6 84,074,697 (GRCm39) missense probably damaging 0.99
R4743:Dysf UTSW 6 84,074,697 (GRCm39) missense probably damaging 0.99
R4749:Dysf UTSW 6 84,043,990 (GRCm39) missense probably damaging 1.00
R4787:Dysf UTSW 6 84,180,310 (GRCm39) nonsense probably null
R4850:Dysf UTSW 6 84,074,697 (GRCm39) missense probably damaging 0.99
R4868:Dysf UTSW 6 84,156,675 (GRCm39) missense probably damaging 1.00
R4871:Dysf UTSW 6 84,044,005 (GRCm39) missense possibly damaging 0.93
R4951:Dysf UTSW 6 84,091,102 (GRCm39) critical splice donor site probably null
R4952:Dysf UTSW 6 84,126,968 (GRCm39) missense possibly damaging 0.79
R5009:Dysf UTSW 6 84,128,968 (GRCm39) missense probably damaging 1.00
R5072:Dysf UTSW 6 84,114,254 (GRCm39) missense probably damaging 1.00
R5073:Dysf UTSW 6 84,114,254 (GRCm39) missense probably damaging 1.00
R5074:Dysf UTSW 6 84,114,254 (GRCm39) missense probably damaging 1.00
R5252:Dysf UTSW 6 84,163,450 (GRCm39) missense probably damaging 0.98
R5260:Dysf UTSW 6 84,127,016 (GRCm39) missense probably damaging 1.00
R5447:Dysf UTSW 6 84,172,245 (GRCm39) missense probably damaging 0.98
R5501:Dysf UTSW 6 84,064,800 (GRCm39) missense probably damaging 0.99
R5533:Dysf UTSW 6 84,163,453 (GRCm39) missense probably damaging 0.99
R5611:Dysf UTSW 6 84,041,860 (GRCm39) missense probably damaging 0.98
R5618:Dysf UTSW 6 84,083,806 (GRCm39) missense probably benign 0.03
R5884:Dysf UTSW 6 84,163,063 (GRCm39) missense probably damaging 1.00
R5927:Dysf UTSW 6 84,184,194 (GRCm39) missense probably damaging 1.00
R6045:Dysf UTSW 6 84,091,054 (GRCm39) missense probably damaging 0.99
R6056:Dysf UTSW 6 84,083,844 (GRCm39) missense probably benign
R6084:Dysf UTSW 6 83,996,586 (GRCm39) missense probably damaging 0.98
R6084:Dysf UTSW 6 84,089,101 (GRCm39) missense probably damaging 1.00
R6146:Dysf UTSW 6 84,180,181 (GRCm39) missense probably damaging 0.96
R6220:Dysf UTSW 6 84,126,727 (GRCm39) missense probably damaging 0.97
R6232:Dysf UTSW 6 84,075,235 (GRCm39) missense probably benign 0.26
R6247:Dysf UTSW 6 84,043,981 (GRCm39) missense probably damaging 1.00
R6298:Dysf UTSW 6 84,084,118 (GRCm39) splice site probably null
R6306:Dysf UTSW 6 84,114,248 (GRCm39) missense possibly damaging 0.91
R6377:Dysf UTSW 6 83,985,945 (GRCm39) missense probably benign
R6415:Dysf UTSW 6 84,117,024 (GRCm39) missense probably damaging 1.00
R6444:Dysf UTSW 6 84,167,822 (GRCm39) missense probably benign 0.36
R6470:Dysf UTSW 6 84,043,926 (GRCm39) missense possibly damaging 0.93
R6504:Dysf UTSW 6 83,985,907 (GRCm39) missense probably benign 0.03
R6557:Dysf UTSW 6 84,163,366 (GRCm39) missense probably damaging 0.99
R6665:Dysf UTSW 6 84,107,098 (GRCm39) missense probably benign
R6701:Dysf UTSW 6 84,089,172 (GRCm39) missense probably damaging 1.00
R6776:Dysf UTSW 6 84,041,876 (GRCm39) missense possibly damaging 0.88
R6909:Dysf UTSW 6 84,169,920 (GRCm39) missense probably damaging 1.00
R7007:Dysf UTSW 6 84,090,962 (GRCm39) missense probably damaging 1.00
R7013:Dysf UTSW 6 84,114,340 (GRCm39) missense probably damaging 1.00
R7035:Dysf UTSW 6 84,163,374 (GRCm39) missense probably benign 0.02
R7094:Dysf UTSW 6 84,077,184 (GRCm39) missense probably benign 0.43
R7124:Dysf UTSW 6 84,167,883 (GRCm39) splice site probably null
R7156:Dysf UTSW 6 84,064,858 (GRCm39) critical splice donor site probably null
R7261:Dysf UTSW 6 84,169,992 (GRCm39) missense probably damaging 0.98
R7296:Dysf UTSW 6 84,083,880 (GRCm39) missense probably benign 0.33
R7356:Dysf UTSW 6 84,044,443 (GRCm39) missense probably damaging 1.00
R7359:Dysf UTSW 6 84,172,306 (GRCm39) splice site probably null
R7384:Dysf UTSW 6 84,091,087 (GRCm39) missense probably benign 0.17
R7409:Dysf UTSW 6 84,126,664 (GRCm39) missense probably benign 0.00
R7449:Dysf UTSW 6 84,114,362 (GRCm39) missense possibly damaging 0.90
R7476:Dysf UTSW 6 84,041,878 (GRCm39) missense probably benign 0.08
R7496:Dysf UTSW 6 84,044,460 (GRCm39) missense probably benign 0.43
R7573:Dysf UTSW 6 84,107,104 (GRCm39) missense possibly damaging 0.59
R7616:Dysf UTSW 6 84,078,945 (GRCm39) missense probably benign 0.01
R7684:Dysf UTSW 6 84,077,117 (GRCm39) missense probably benign 0.00
R7808:Dysf UTSW 6 84,047,911 (GRCm39) missense possibly damaging 0.86
R7836:Dysf UTSW 6 84,114,380 (GRCm39) missense probably damaging 1.00
R7868:Dysf UTSW 6 84,091,081 (GRCm39) missense probably benign 0.00
R7873:Dysf UTSW 6 84,060,747 (GRCm39) missense probably benign
R7956:Dysf UTSW 6 83,985,978 (GRCm39) missense probably benign 0.01
R8130:Dysf UTSW 6 84,114,358 (GRCm39) missense probably damaging 0.97
R8357:Dysf UTSW 6 84,165,227 (GRCm39) missense probably benign 0.01
R8383:Dysf UTSW 6 83,996,565 (GRCm39) missense probably damaging 1.00
R8457:Dysf UTSW 6 84,165,227 (GRCm39) missense probably benign 0.01
R8693:Dysf UTSW 6 84,088,952 (GRCm39) missense probably damaging 1.00
R8738:Dysf UTSW 6 84,171,353 (GRCm39) missense probably damaging 1.00
R8808:Dysf UTSW 6 83,996,466 (GRCm39) start gained probably benign
R8836:Dysf UTSW 6 84,093,105 (GRCm39) missense probably damaging 1.00
R8915:Dysf UTSW 6 84,156,736 (GRCm39) missense probably benign
R8959:Dysf UTSW 6 84,078,945 (GRCm39) missense probably benign 0.01
R9091:Dysf UTSW 6 84,077,216 (GRCm39) nonsense probably null
R9095:Dysf UTSW 6 84,156,666 (GRCm39) missense probably benign 0.01
R9162:Dysf UTSW 6 84,089,215 (GRCm39) missense probably damaging 1.00
R9164:Dysf UTSW 6 84,180,308 (GRCm39) missense probably damaging 1.00
R9166:Dysf UTSW 6 84,126,959 (GRCm39) missense probably damaging 1.00
R9173:Dysf UTSW 6 84,171,379 (GRCm39) missense probably benign 0.10
R9191:Dysf UTSW 6 84,045,048 (GRCm39) missense probably benign 0.43
R9270:Dysf UTSW 6 84,077,216 (GRCm39) nonsense probably null
R9328:Dysf UTSW 6 84,050,895 (GRCm39) missense probably damaging 1.00
R9470:Dysf UTSW 6 84,090,352 (GRCm39) missense possibly damaging 0.59
R9509:Dysf UTSW 6 84,187,779 (GRCm39) missense probably damaging 0.98
R9511:Dysf UTSW 6 84,090,650 (GRCm39) missense probably damaging 1.00
R9526:Dysf UTSW 6 84,128,885 (GRCm39) missense probably damaging 0.99
R9751:Dysf UTSW 6 84,163,450 (GRCm39) missense probably damaging 0.98
X0063:Dysf UTSW 6 84,040,336 (GRCm39) missense probably damaging 0.97
X0066:Dysf UTSW 6 84,091,084 (GRCm39) missense possibly damaging 0.77
Z1176:Dysf UTSW 6 84,049,667 (GRCm39) missense probably damaging 1.00
Z1177:Dysf UTSW 6 84,064,799 (GRCm39) missense probably benign 0.39
Z1177:Dysf UTSW 6 84,041,505 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCATCCATCCATTTATCCACCAG -3'
(R):5'- GATCCTAGCACACTGCCCC -3'

Sequencing Primer
(F):5'- GTCCACCTACCAAGCTACATG -3'
(R):5'- AGCTCTCAGTAAGATTTTCTCCCAG -3'
Posted On 2014-07-14