Incidental Mutation 'PIT4305001:Dysf'
ID 554550
Institutional Source Beutler Lab
Gene Symbol Dysf
Ensembl Gene ENSMUSG00000033788
Gene Name dysferlin
Synonyms 2310004N10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4305001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 83985572-84188042 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 84077216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 660 (R660*)
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 probably null
Transcript: ENSMUST00000081904
AA Change: R691*
SMART Domains Protein: ENSMUSP00000080579
Gene: ENSMUSG00000033788
AA Change: R691*

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 null
Transcript: ENSMUST00000089595
AA Change: R674*
SMART Domains Protein: ENSMUSP00000087022
Gene: ENSMUSG00000033788
AA Change: R674*

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 probably null
Transcript: ENSMUST00000113818
AA Change: R660*
SMART Domains Protein: ENSMUSP00000109449
Gene: ENSMUSG00000033788
AA Change: R660*

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 null
Transcript: ENSMUST00000113821
AA Change: R673*
SMART Domains Protein: ENSMUSP00000109452
Gene: ENSMUSG00000033788
AA Change: R673*

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 probably null
Transcript: ENSMUST00000113823
AA Change: R690*
SMART Domains Protein: ENSMUSP00000109454
Gene: ENSMUSG00000033788
AA Change: R690*

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 probably null
Transcript: ENSMUST00000153860
AA Change: R673*
SMART Domains Protein: ENSMUSP00000145518
Gene: ENSMUSG00000033788
AA Change: R673*

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 probably null
Transcript: ENSMUST00000168387
AA Change: R681*
SMART Domains Protein: ENSMUSP00000132297
Gene: ENSMUSG00000033788
AA Change: R681*

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 null
Transcript: ENSMUST00000203695
AA Change: R705*
SMART Domains Protein: ENSMUSP00000145292
Gene: ENSMUSG00000033788
AA Change: R705*

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 probably null
Transcript: ENSMUST00000203803
AA Change: R704*
SMART Domains Protein: ENSMUSP00000145511
Gene: ENSMUSG00000033788
AA Change: R704*

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 probably null
Transcript: ENSMUST00000204354
AA Change: R660*
SMART Domains Protein: ENSMUSP00000144705
Gene: ENSMUSG00000033788
AA Change: R660*

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 null
Transcript: ENSMUST00000204591
AA Change: R690*
SMART Domains Protein: ENSMUSP00000144970
Gene: ENSMUSG00000033788
AA Change: R690*

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 null
Transcript: ENSMUST00000204987
AA Change: R674*
SMART Domains Protein: ENSMUSP00000144748
Gene: ENSMUSG00000033788
AA Change: R674*

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: 93.4%
  • 3x: 91.3%
  • 10x: 86.8%
  • 20x: 76.6%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 A G 1: 171,086,610 (GRCm39) N801D probably benign Het
Adcy2 T C 13: 68,826,721 (GRCm39) K661R probably benign Het
Akap1 A T 11: 88,735,204 (GRCm39) M486K probably benign Het
Arhgap40 T A 2: 158,373,825 (GRCm39) I202N probably benign Het
C1qtnf2 T A 11: 43,382,022 (GRCm39) L248Q probably damaging Het
Casp1 A T 9: 5,306,135 (GRCm39) H340L probably benign Het
Cd5 A G 19: 10,703,750 (GRCm39) V104A possibly damaging Het
Celsr1 T A 15: 85,785,138 (GRCm39) E3032V possibly damaging Het
Cts7 A G 13: 61,504,386 (GRCm39) I59T probably damaging Het
Cutc G T 19: 43,756,708 (GRCm39) A267S probably damaging Het
Dmwd A G 7: 18,814,643 (GRCm39) Q431R probably damaging Het
Dnah6 T C 6: 73,042,738 (GRCm39) N3280S probably benign Het
Dnah7b A T 1: 46,412,508 (GRCm39) N4039I probably damaging Het
Dnaja4 T C 9: 54,617,918 (GRCm39) I260T probably benign Het
Drd5 T C 5: 38,477,927 (GRCm39) F307L probably damaging Het
Dsc2 C T 18: 20,179,300 (GRCm39) S256N probably damaging Het
Dstyk G T 1: 132,383,634 (GRCm39) E617* probably null Het
Dusp15 G A 2: 152,787,396 (GRCm39) H72Y probably benign Het
Fbxl13 T A 5: 21,727,146 (GRCm39) I584L probably benign Het
Gsap T C 5: 21,391,407 (GRCm39) L16P probably damaging Het
Hgsnat C T 8: 26,435,227 (GRCm39) A636T possibly damaging Het
Hivep1 A G 13: 42,335,147 (GRCm39) T161A Het
Hspg2 T C 4: 137,277,684 (GRCm39) S2928P possibly damaging Het
Ifi214 G A 1: 173,355,485 (GRCm39) P108S probably benign Het
Il17ra A T 6: 120,458,367 (GRCm39) Y506F probably damaging Het
Il9r T A 11: 32,144,734 (GRCm39) Q53L probably benign Het
Irf2bp2 C T 8: 127,319,398 (GRCm39) G260R probably damaging Het
Jdp2 T A 12: 85,685,626 (GRCm39) I129N probably damaging Het
Kif1b T C 4: 149,305,249 (GRCm39) probably null Het
Klrd1 A G 6: 129,573,670 (GRCm39) T120A unknown Het
Lfng A G 5: 140,598,283 (GRCm39) N202D probably damaging Het
Ltbp3 A G 19: 5,802,095 (GRCm39) E757G probably damaging Het
Ltn1 G A 16: 87,217,211 (GRCm39) P342L probably damaging Het
Lum A C 10: 97,404,738 (GRCm39) Y211S probably damaging Het
Ncapd2 G A 6: 125,160,990 (GRCm39) R292* probably null Het
Nlrc4 T C 17: 74,753,304 (GRCm39) T360A probably damaging Het
Or4c1 T C 2: 89,133,727 (GRCm39) I70V probably benign Het
Or7g32 T C 9: 19,389,357 (GRCm39) Y63C probably damaging Het
Pakap C A 4: 57,638,029 (GRCm39) T22K possibly damaging Het
Pde3a A G 6: 141,438,036 (GRCm39) D1035G probably benign Het
Phf20l1 A T 15: 66,484,901 (GRCm39) K322I possibly damaging Het
Pik3r3 A C 4: 116,149,323 (GRCm39) N349T probably benign Het
Poc1a A G 9: 106,227,028 (GRCm39) Q420R Het
Prl7d1 A T 13: 27,898,320 (GRCm39) M63K possibly damaging Het
Rap1gds1 C A 3: 138,662,061 (GRCm39) M398I probably benign Het
Rapgef6 T A 11: 54,570,203 (GRCm39) V1192D probably damaging Het
Rif1 T C 2: 52,001,970 (GRCm39) V166A Het
Robo4 T C 9: 37,322,687 (GRCm39) Y847H probably damaging Het
Sardh T C 2: 27,118,326 (GRCm39) N468S probably damaging Het
Sema5a A G 15: 32,628,345 (GRCm39) T553A probably benign Het
Serpina12 A G 12: 104,001,976 (GRCm39) Y247H probably damaging Het
Speer4e2 T C 5: 15,028,804 (GRCm39) D29G probably benign Het
Ston2 G T 12: 91,615,276 (GRCm39) D377E possibly damaging Het
Syne1 A G 10: 5,283,023 (GRCm39) S1557P probably damaging Het
Syt6 C T 3: 103,482,769 (GRCm39) R26W possibly damaging Het
Tep1 C T 14: 51,066,684 (GRCm39) G2305R possibly damaging Het
Ticrr A G 7: 79,328,771 (GRCm39) T637A possibly damaging Het
Tnn A T 1: 159,913,647 (GRCm39) F1546Y possibly damaging Het
Tpr A G 1: 150,315,888 (GRCm39) D2055G possibly damaging Het
Trim39 A G 17: 36,579,862 (GRCm39) V31A possibly damaging Het
Trpc7 G T 13: 57,035,321 (GRCm39) T204K probably benign Het
Urgcp T C 11: 5,667,996 (GRCm39) Y157C probably damaging Het
Vmn1r81 A T 7: 11,994,590 (GRCm39) I6K probably benign 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
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
R1900:Dysf UTSW 6 84,016,549 (GRCm39) missense probably damaging 0.97
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'- TGAGTCCTGTCTCAAGCAGG -3'
(R):5'- AGGCATATCCCGACACTTCAG -3'

Sequencing Primer
(F):5'- TGTCTCAAGCAGGGCCAG -3'
(R):5'- AGGCATATCCCGACACTTCAGTTATC -3'
Posted On 2019-06-07