Incidental Mutation 'R7573:Dysf'
ID 586148
Institutional Source Beutler Lab
Gene Symbol Dysf
Ensembl Gene ENSMUSG00000033788
Gene Name dysferlin
Synonyms 2310004N10Rik
MMRRC Submission 045659-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7573 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 84008590-84211060 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84130122 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 1139 (N1139I)
Ref Sequence ENSEMBL: ENSMUSP00000109449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081904] [ENSMUST00000089595] [ENSMUST00000113818] [ENSMUST00000113821] [ENSMUST00000113823] [ENSMUST00000153860] [ENSMUST00000168387] [ENSMUST00000203695] [ENSMUST00000203803] [ENSMUST00000204354] [ENSMUST00000204591] [ENSMUST00000204987]
AlphaFold Q9ESD7
Predicted Effect possibly damaging
Transcript: ENSMUST00000081904
AA Change: N1170I

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080579
Gene: ENSMUSG00000033788
AA Change: N1170I

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 possibly damaging
Transcript: ENSMUST00000089595
AA Change: N1153I

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000087022
Gene: ENSMUSG00000033788
AA Change: N1153I

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: N1139I

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109449
Gene: ENSMUSG00000033788
AA Change: N1139I

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 benign
Transcript: ENSMUST00000113821
AA Change: N1152I

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109452
Gene: ENSMUSG00000033788
AA Change: N1152I

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: N1169I

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109454
Gene: ENSMUSG00000033788
AA Change: N1169I

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: N1152I

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145518
Gene: ENSMUSG00000033788
AA Change: N1152I

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: N1160I

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132297
Gene: ENSMUSG00000033788
AA Change: N1160I

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 benign
Transcript: ENSMUST00000203695
AA Change: N1184I

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000145292
Gene: ENSMUSG00000033788
AA Change: N1184I

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: N1183I

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145511
Gene: ENSMUSG00000033788
AA Change: N1183I

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: N1139I

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144705
Gene: ENSMUSG00000033788
AA Change: N1139I

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 probably benign
Transcript: ENSMUST00000204591
AA Change: N1169I

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000144970
Gene: ENSMUSG00000033788
AA Change: N1169I

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
Predicted Effect probably benign
Transcript: ENSMUST00000204987
AA Change: N1153I

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144748
Gene: ENSMUSG00000033788
AA Change: N1153I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,573,268 (GRCm38) I49F Het
1810055G02Rik T A 19: 3,715,728 (GRCm38) M1K probably null Het
A430078G23Rik A G 8: 3,384,918 (GRCm38) R188G probably damaging Het
Abcb1b G A 5: 8,828,866 (GRCm38) C750Y possibly damaging Het
Abi2 T A 1: 60,470,708 (GRCm38) V412D probably benign Het
Alk C T 17: 71,900,792 (GRCm38) V983M probably damaging Het
Alppl2 A T 1: 87,088,231 (GRCm38) W266R possibly damaging Het
Atp2c2 A T 8: 119,751,269 (GRCm38) D695V probably damaging Het
B3gnt4 A T 5: 123,510,655 (GRCm38) I28L probably benign Het
C2cd3 A G 7: 100,419,707 (GRCm38) D536G Het
Cacna1c A G 6: 118,604,445 (GRCm38) S1733P Het
Cacna1e T C 1: 154,726,165 (GRCm38) probably benign Het
Capns1 A G 7: 30,192,535 (GRCm38) F101L probably damaging Het
Ccdc180 A G 4: 45,922,015 (GRCm38) T1030A probably benign Het
Cdh23 T C 10: 60,323,550 (GRCm38) T2151A probably benign Het
Cenpe T A 3: 135,247,459 (GRCm38) L1558Q probably damaging Het
Cfap157 T C 2: 32,777,508 (GRCm38) H521R probably benign Het
Crygs T A 16: 22,805,319 (GRCm38) *179C probably null Het
Ctsb T C 14: 63,138,101 (GRCm38) V172A probably benign Het
Cul9 T C 17: 46,519,910 (GRCm38) T1686A probably benign Het
Cutc T C 19: 43,759,943 (GRCm38) V95A probably benign Het
Cxcl3 A G 5: 90,786,246 (GRCm38) T26A probably benign Het
Dnah9 A G 11: 66,125,215 (GRCm38) V400A probably benign Het
Fam136a G A 6: 86,366,685 (GRCm38) E55K probably benign Het
Fam151a A G 4: 106,743,305 (GRCm38) D179G probably damaging Het
Fam178b T C 1: 36,632,452 (GRCm38) D196G probably damaging Het
Fut9 A T 4: 25,620,691 (GRCm38) M41K probably benign Het
Gm9195 T C 14: 72,456,682 (GRCm38) Q1531R probably null Het
Gpr6 A T 10: 41,070,872 (GRCm38) V238D probably damaging Het
Hoxa2 A T 6: 52,163,303 (GRCm38) S234R probably benign Het
Itga4 A G 2: 79,272,993 (GRCm38) T143A probably benign Het
Kcnq2 A G 2: 181,081,589 (GRCm38) S693P probably benign Het
Kif13b A G 14: 64,803,658 (GRCm38) I1732V probably benign Het
Klhl14 A G 18: 21,652,154 (GRCm38) V72A probably benign Het
Krt2 T A 15: 101,814,519 (GRCm38) D348V probably benign Het
Map4k2 A T 19: 6,344,064 (GRCm38) E300D probably benign Het
Mars A G 10: 127,302,810 (GRCm38) probably null Het
Mpo A G 11: 87,797,577 (GRCm38) D354G probably benign Het
Mrpl15 T C 1: 4,777,555 (GRCm38) T174A probably damaging Het
Myom2 G A 8: 15,122,450 (GRCm38) C1183Y probably damaging Het
Nfkb2 C A 19: 46,308,643 (GRCm38) Q336K possibly damaging Het
Nlrp2 A G 7: 5,317,469 (GRCm38) probably null Het
Nlrp9b T C 7: 20,019,200 (GRCm38) L10P probably damaging Het
Nrip2 A G 6: 128,400,269 (GRCm38) S53G probably benign Het
Olfr1280 T C 2: 111,315,932 (GRCm38) I151T probably benign Het
Olfr1537 C T 9: 39,237,681 (GRCm38) V248I probably benign Het
Olfr535 G A 7: 140,492,999 (GRCm38) M120I probably damaging Het
Olfr618 C T 7: 103,597,528 (GRCm38) L71F probably benign Het
Olfr69 A G 7: 103,767,470 (GRCm38) M309T probably benign Het
Olfr921 A T 9: 38,775,495 (GRCm38) K80I probably damaging Het
Pak7 A G 2: 136,116,305 (GRCm38) S288P probably damaging Het
Pjvk T C 2: 76,657,465 (GRCm38) F234L probably benign Het
Plekhm2 T C 4: 141,631,347 (GRCm38) N616D probably benign Het
Pnkp C T 7: 44,857,428 (GRCm38) R9C probably damaging Het
Prom1 A G 5: 44,055,930 (GRCm38) C154R probably damaging Het
Rab3gap2 T A 1: 185,282,382 (GRCm38) W1243R probably benign Het
Rad17 C T 13: 100,629,466 (GRCm38) A385T probably damaging Het
Rasgrp1 T C 2: 117,287,943 (GRCm38) I522V probably damaging Het
Rnf213 T C 11: 119,458,484 (GRCm38) C3804R Het
Ros1 T A 10: 52,169,976 (GRCm38) T153S probably benign Het
Sema4g T C 19: 44,997,571 (GRCm38) S284P probably damaging Het
Sept9 C T 11: 117,199,745 (GRCm38) probably benign Het
Slc2a9 T C 5: 38,417,226 (GRCm38) S236G probably damaging Het
Slc9c1 T C 16: 45,577,893 (GRCm38) F674L probably benign Het
Slfn5 A T 11: 82,958,759 (GRCm38) K361N probably damaging Het
Smad6 A G 9: 64,021,770 (GRCm38) L88S unknown Het
Smarca4 T A 9: 21,639,075 (GRCm38) probably null Het
Smg7 A T 1: 152,859,489 (GRCm38) N198K probably damaging Het
Sorcs1 G A 19: 50,152,796 (GRCm38) Q1166* probably null Het
Stap1 A G 5: 86,090,995 (GRCm38) N212S possibly damaging Het
Tbx2 C G 11: 85,833,312 (GRCm38) A69G possibly damaging Het
Tmc1 C A 19: 20,907,008 (GRCm38) D23Y probably damaging Het
Tmf1 A T 6: 97,158,494 (GRCm38) D940E probably benign Het
Trim27 T A 13: 21,180,600 (GRCm38) C36S probably damaging Het
Unc80 G A 1: 66,521,537 (GRCm38) G808D probably damaging Het
Usp17ld G T 7: 103,250,887 (GRCm38) Y279* probably null Het
Usp40 G A 1: 87,986,072 (GRCm38) A433V probably benign Het
Vmn1r49 G A 6: 90,072,861 (GRCm38) A53V probably benign Het
Vmn1r84 T C 7: 12,361,860 (GRCm38) N302S probably benign Het
Wfdc2 A T 2: 164,565,821 (GRCm38) I137L probably benign Het
Other mutations in Dysf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Dysf APN 6 84,108,099 (GRCm38) missense probably damaging 1.00
IGL00340:Dysf APN 6 84,141,951 (GRCm38) missense probably benign 0.02
IGL00429:Dysf APN 6 84,189,844 (GRCm38) missense probably damaging 1.00
IGL00465:Dysf APN 6 84,199,848 (GRCm38) critical splice donor site probably null
IGL00800:Dysf APN 6 84,149,998 (GRCm38) missense probably damaging 1.00
IGL01069:Dysf APN 6 84,199,785 (GRCm38) missense possibly damaging 0.94
IGL01094:Dysf APN 6 84,194,386 (GRCm38) missense probably damaging 1.00
IGL01420:Dysf APN 6 84,149,759 (GRCm38) nonsense probably null
IGL01649:Dysf APN 6 84,199,839 (GRCm38) missense probably damaging 1.00
IGL01923:Dysf APN 6 84,210,829 (GRCm38) makesense probably null
IGL01991:Dysf APN 6 84,113,618 (GRCm38) missense probably damaging 1.00
IGL01999:Dysf APN 6 84,113,618 (GRCm38) missense probably damaging 1.00
IGL02002:Dysf APN 6 84,210,787 (GRCm38) splice site probably benign
IGL02136:Dysf APN 6 84,108,167 (GRCm38) missense probably benign 0.43
IGL02318:Dysf APN 6 84,186,464 (GRCm38) missense possibly damaging 0.50
IGL02378:Dysf APN 6 84,111,905 (GRCm38) missense probably damaging 1.00
IGL02404:Dysf APN 6 84,116,061 (GRCm38) missense probably damaging 1.00
IGL02416:Dysf APN 6 84,192,914 (GRCm38) missense possibly damaging 0.92
IGL02535:Dysf APN 6 84,149,697 (GRCm38) missense possibly damaging 0.45
IGL02553:Dysf APN 6 84,130,127 (GRCm38) missense possibly damaging 0.95
IGL02559:Dysf APN 6 84,067,446 (GRCm38) splice site probably benign
IGL02563:Dysf APN 6 84,186,516 (GRCm38) splice site probably benign
IGL02647:Dysf APN 6 84,137,373 (GRCm38) missense probably damaging 1.00
IGL02820:Dysf APN 6 84,100,205 (GRCm38) missense probably damaging 0.99
IGL02858:Dysf APN 6 84,099,489 (GRCm38) missense probably benign 0.01
IGL02860:Dysf APN 6 84,190,898 (GRCm38) critical splice donor site probably null
IGL02861:Dysf APN 6 84,039,537 (GRCm38) missense probably damaging 0.99
IGL03008:Dysf APN 6 84,073,894 (GRCm38) missense probably benign 0.01
IGL03023:Dysf APN 6 84,193,007 (GRCm38) missense probably damaging 1.00
IGL03074:Dysf APN 6 84,188,226 (GRCm38) missense probably benign 0.25
IGL03342:Dysf APN 6 84,190,872 (GRCm38) missense probably benign
PIT4305001:Dysf UTSW 6 84,100,234 (GRCm38) nonsense probably null
R0067:Dysf UTSW 6 84,063,331 (GRCm38) missense possibly damaging 0.58
R0106:Dysf UTSW 6 84,113,336 (GRCm38) missense probably benign 0.07
R0106:Dysf UTSW 6 84,113,336 (GRCm38) missense probably benign 0.07
R0124:Dysf UTSW 6 84,065,102 (GRCm38) splice site probably benign
R0219:Dysf UTSW 6 84,129,461 (GRCm38) splice site probably benign
R0238:Dysf UTSW 6 84,064,479 (GRCm38) nonsense probably null
R0238:Dysf UTSW 6 84,064,479 (GRCm38) nonsense probably null
R0239:Dysf UTSW 6 84,064,479 (GRCm38) nonsense probably null
R0239:Dysf UTSW 6 84,064,479 (GRCm38) nonsense probably null
R0426:Dysf UTSW 6 84,149,757 (GRCm38) missense probably damaging 1.00
R0455:Dysf UTSW 6 84,140,667 (GRCm38) missense probably benign 0.29
R0482:Dysf UTSW 6 84,152,405 (GRCm38) missense probably benign 0.03
R0545:Dysf UTSW 6 84,099,461 (GRCm38) missense probably damaging 0.99
R0625:Dysf UTSW 6 84,111,987 (GRCm38) splice site probably null
R0676:Dysf UTSW 6 84,113,336 (GRCm38) missense probably benign 0.07
R0699:Dysf UTSW 6 84,190,846 (GRCm38) missense probably benign 0.00
R1165:Dysf UTSW 6 84,067,069 (GRCm38) missense probably damaging 0.98
R1455:Dysf UTSW 6 84,113,386 (GRCm38) missense probably benign 0.01
R1582:Dysf UTSW 6 84,097,767 (GRCm38) missense probably damaging 1.00
R1584:Dysf UTSW 6 84,067,047 (GRCm38) missense probably benign 0.04
R1605:Dysf UTSW 6 84,106,941 (GRCm38) missense probably damaging 0.96
R1674:Dysf UTSW 6 84,179,715 (GRCm38) missense probably benign 0.01
R1739:Dysf UTSW 6 84,112,235 (GRCm38) critical splice donor site probably null
R1765:Dysf UTSW 6 84,190,902 (GRCm38) splice site probably null
R1813:Dysf UTSW 6 84,151,924 (GRCm38) missense possibly damaging 0.83
R1900:Dysf UTSW 6 84,039,567 (GRCm38) missense probably damaging 0.97
R1960:Dysf UTSW 6 84,073,903 (GRCm38) missense probably benign 0.12
R2216:Dysf UTSW 6 84,207,245 (GRCm38) splice site probably null
R2242:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R2243:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R2245:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R2246:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R2280:Dysf UTSW 6 84,064,494 (GRCm38) missense probably damaging 0.99
R2374:Dysf UTSW 6 84,097,729 (GRCm38) missense probably damaging 1.00
R2403:Dysf UTSW 6 84,039,567 (GRCm38) missense possibly damaging 0.84
R2763:Dysf UTSW 6 84,106,932 (GRCm38) missense probably benign 0.00
R2895:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R2916:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R2918:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R3402:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R3403:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R3434:Dysf UTSW 6 84,070,888 (GRCm38) missense probably benign 0.00
R3772:Dysf UTSW 6 84,152,351 (GRCm38) missense possibly damaging 0.63
R3781:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R3789:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R3822:Dysf UTSW 6 84,207,088 (GRCm38) splice site probably benign
R3918:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R3919:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R3939:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R3942:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R4177:Dysf UTSW 6 84,067,031 (GRCm38) nonsense probably null
R4179:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R4180:Dysf UTSW 6 84,186,509 (GRCm38) critical splice donor site probably null
R4299:Dysf UTSW 6 84,068,077 (GRCm38) missense possibly damaging 0.78
R4419:Dysf UTSW 6 84,207,242 (GRCm38) critical splice donor site probably null
R4446:Dysf UTSW 6 84,205,872 (GRCm38) missense probably damaging 1.00
R4577:Dysf UTSW 6 84,137,326 (GRCm38) missense probably damaging 1.00
R4680:Dysf UTSW 6 84,097,715 (GRCm38) missense probably damaging 0.99
R4708:Dysf UTSW 6 84,097,715 (GRCm38) missense probably damaging 0.99
R4709:Dysf UTSW 6 84,097,715 (GRCm38) missense probably damaging 0.99
R4710:Dysf UTSW 6 84,097,715 (GRCm38) missense probably damaging 0.99
R4725:Dysf UTSW 6 84,097,756 (GRCm38) missense probably damaging 1.00
R4742:Dysf UTSW 6 84,097,715 (GRCm38) missense probably damaging 0.99
R4743:Dysf UTSW 6 84,097,715 (GRCm38) missense probably damaging 0.99
R4749:Dysf UTSW 6 84,067,008 (GRCm38) missense probably damaging 1.00
R4787:Dysf UTSW 6 84,203,328 (GRCm38) nonsense probably null
R4850:Dysf UTSW 6 84,097,715 (GRCm38) missense probably damaging 0.99
R4868:Dysf UTSW 6 84,179,693 (GRCm38) missense probably damaging 1.00
R4871:Dysf UTSW 6 84,067,023 (GRCm38) missense possibly damaging 0.93
R4951:Dysf UTSW 6 84,114,120 (GRCm38) critical splice donor site probably null
R4952:Dysf UTSW 6 84,149,986 (GRCm38) missense possibly damaging 0.79
R5009:Dysf UTSW 6 84,151,986 (GRCm38) missense probably damaging 1.00
R5072:Dysf UTSW 6 84,137,272 (GRCm38) missense probably damaging 1.00
R5073:Dysf UTSW 6 84,137,272 (GRCm38) missense probably damaging 1.00
R5074:Dysf UTSW 6 84,137,272 (GRCm38) missense probably damaging 1.00
R5252:Dysf UTSW 6 84,186,468 (GRCm38) missense probably damaging 0.98
R5260:Dysf UTSW 6 84,150,034 (GRCm38) missense probably damaging 1.00
R5447:Dysf UTSW 6 84,195,263 (GRCm38) missense probably damaging 0.98
R5501:Dysf UTSW 6 84,087,818 (GRCm38) missense probably damaging 0.99
R5533:Dysf UTSW 6 84,186,471 (GRCm38) missense probably damaging 0.99
R5611:Dysf UTSW 6 84,064,878 (GRCm38) missense probably damaging 0.98
R5618:Dysf UTSW 6 84,106,824 (GRCm38) missense probably benign 0.03
R5884:Dysf UTSW 6 84,186,081 (GRCm38) missense probably damaging 1.00
R5927:Dysf UTSW 6 84,207,212 (GRCm38) missense probably damaging 1.00
R6045:Dysf UTSW 6 84,114,072 (GRCm38) missense probably damaging 0.99
R6056:Dysf UTSW 6 84,106,862 (GRCm38) missense probably benign
R6084:Dysf UTSW 6 84,112,119 (GRCm38) missense probably damaging 1.00
R6084:Dysf UTSW 6 84,019,604 (GRCm38) missense probably damaging 0.98
R6146:Dysf UTSW 6 84,203,199 (GRCm38) missense probably damaging 0.96
R6220:Dysf UTSW 6 84,149,745 (GRCm38) missense probably damaging 0.97
R6232:Dysf UTSW 6 84,098,253 (GRCm38) missense probably benign 0.26
R6247:Dysf UTSW 6 84,066,999 (GRCm38) missense probably damaging 1.00
R6298:Dysf UTSW 6 84,107,136 (GRCm38) splice site probably null
R6306:Dysf UTSW 6 84,137,266 (GRCm38) missense possibly damaging 0.91
R6377:Dysf UTSW 6 84,008,963 (GRCm38) missense probably benign
R6415:Dysf UTSW 6 84,140,042 (GRCm38) missense probably damaging 1.00
R6444:Dysf UTSW 6 84,190,840 (GRCm38) missense probably benign 0.36
R6470:Dysf UTSW 6 84,066,944 (GRCm38) missense possibly damaging 0.93
R6504:Dysf UTSW 6 84,008,925 (GRCm38) missense probably benign 0.03
R6557:Dysf UTSW 6 84,186,384 (GRCm38) missense probably damaging 0.99
R6665:Dysf UTSW 6 84,130,116 (GRCm38) missense probably benign
R6701:Dysf UTSW 6 84,112,190 (GRCm38) missense probably damaging 1.00
R6776:Dysf UTSW 6 84,064,894 (GRCm38) missense possibly damaging 0.88
R6909:Dysf UTSW 6 84,192,938 (GRCm38) missense probably damaging 1.00
R7007:Dysf UTSW 6 84,113,980 (GRCm38) missense probably damaging 1.00
R7013:Dysf UTSW 6 84,137,358 (GRCm38) missense probably damaging 1.00
R7035:Dysf UTSW 6 84,186,392 (GRCm38) missense probably benign 0.02
R7094:Dysf UTSW 6 84,100,202 (GRCm38) missense probably benign 0.43
R7124:Dysf UTSW 6 84,190,901 (GRCm38) splice site probably null
R7156:Dysf UTSW 6 84,087,876 (GRCm38) critical splice donor site probably null
R7261:Dysf UTSW 6 84,193,010 (GRCm38) missense probably damaging 0.98
R7296:Dysf UTSW 6 84,106,898 (GRCm38) missense probably benign 0.33
R7356:Dysf UTSW 6 84,067,461 (GRCm38) missense probably damaging 1.00
R7359:Dysf UTSW 6 84,195,324 (GRCm38) splice site probably null
R7384:Dysf UTSW 6 84,114,105 (GRCm38) missense probably benign 0.17
R7409:Dysf UTSW 6 84,149,682 (GRCm38) missense probably benign 0.00
R7449:Dysf UTSW 6 84,137,380 (GRCm38) missense possibly damaging 0.90
R7476:Dysf UTSW 6 84,064,896 (GRCm38) missense probably benign 0.08
R7496:Dysf UTSW 6 84,067,478 (GRCm38) missense probably benign 0.43
R7616:Dysf UTSW 6 84,101,963 (GRCm38) missense probably benign 0.01
R7684:Dysf UTSW 6 84,100,135 (GRCm38) missense probably benign 0.00
R7808:Dysf UTSW 6 84,070,929 (GRCm38) missense possibly damaging 0.86
R7836:Dysf UTSW 6 84,137,398 (GRCm38) missense probably damaging 1.00
R7868:Dysf UTSW 6 84,114,099 (GRCm38) missense probably benign 0.00
R7873:Dysf UTSW 6 84,083,765 (GRCm38) missense probably benign
R7956:Dysf UTSW 6 84,008,996 (GRCm38) missense probably benign 0.01
R8130:Dysf UTSW 6 84,137,376 (GRCm38) missense probably damaging 0.97
R8357:Dysf UTSW 6 84,188,245 (GRCm38) missense probably benign 0.01
R8383:Dysf UTSW 6 84,019,583 (GRCm38) missense probably damaging 1.00
R8457:Dysf UTSW 6 84,188,245 (GRCm38) missense probably benign 0.01
R8693:Dysf UTSW 6 84,111,970 (GRCm38) missense probably damaging 1.00
R8738:Dysf UTSW 6 84,194,371 (GRCm38) missense probably damaging 1.00
R8808:Dysf UTSW 6 84,019,484 (GRCm38) start gained probably benign
R8836:Dysf UTSW 6 84,116,123 (GRCm38) missense probably damaging 1.00
R8915:Dysf UTSW 6 84,179,754 (GRCm38) missense probably benign
R8959:Dysf UTSW 6 84,101,963 (GRCm38) missense probably benign 0.01
R9091:Dysf UTSW 6 84,100,234 (GRCm38) nonsense probably null
R9095:Dysf UTSW 6 84,179,684 (GRCm38) missense probably benign 0.01
R9162:Dysf UTSW 6 84,112,233 (GRCm38) missense probably damaging 1.00
R9164:Dysf UTSW 6 84,203,326 (GRCm38) missense probably damaging 1.00
R9166:Dysf UTSW 6 84,149,977 (GRCm38) missense probably damaging 1.00
R9173:Dysf UTSW 6 84,194,397 (GRCm38) missense probably benign 0.10
R9191:Dysf UTSW 6 84,068,066 (GRCm38) missense probably benign 0.43
R9270:Dysf UTSW 6 84,100,234 (GRCm38) nonsense probably null
R9328:Dysf UTSW 6 84,073,913 (GRCm38) missense probably damaging 1.00
R9470:Dysf UTSW 6 84,113,370 (GRCm38) missense possibly damaging 0.59
R9509:Dysf UTSW 6 84,210,797 (GRCm38) missense probably damaging 0.98
R9511:Dysf UTSW 6 84,113,668 (GRCm38) missense probably damaging 1.00
R9526:Dysf UTSW 6 84,151,903 (GRCm38) missense probably damaging 0.99
R9751:Dysf UTSW 6 84,186,468 (GRCm38) missense probably damaging 0.98
X0063:Dysf UTSW 6 84,063,354 (GRCm38) missense probably damaging 0.97
X0066:Dysf UTSW 6 84,114,102 (GRCm38) missense possibly damaging 0.77
Z1176:Dysf UTSW 6 84,072,685 (GRCm38) missense probably damaging 1.00
Z1177:Dysf UTSW 6 84,087,817 (GRCm38) missense probably benign 0.39
Z1177:Dysf UTSW 6 84,064,523 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTGTCTTCCTAACCAAAAGAGGC -3'
(R):5'- TCTCATATGAGGAGCAGCTGC -3'

Sequencing Primer
(F):5'- AGGCTCACTCTGTATGATGGC -3'
(R):5'- GGAATATCCAGCACTCACAGAAGATG -3'
Posted On 2019-10-24