Incidental Mutation 'IGL02887:Myof'
ID 363808
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myof
Ensembl Gene ENSMUSG00000048612
Gene Name myoferlin
Synonyms E030042N20Rik, 2310051D19Rik, Fer1l3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02887
Quality Score
Status
Chromosome 19
Chromosomal Location 37887484-38032025 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 37909227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041475] [ENSMUST00000172095] [ENSMUST00000225159] [ENSMUST00000226068]
AlphaFold Q69ZN7
Predicted Effect probably benign
Transcript: ENSMUST00000041475
AA Change: K1571R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: K1571R

DomainStartEndE-ValueType
C2 1 100 7.56e-16 SMART
low complexity region 142 159 N/A INTRINSIC
C2 200 299 4.03e-11 SMART
FerI 282 353 2.76e-37 SMART
C2 359 473 2.93e-13 SMART
low complexity region 532 543 N/A INTRINSIC
FerA 663 728 5.07e-27 SMART
FerB 755 829 2.39e-46 SMART
DysFN 843 901 6.42e-21 SMART
DysFN 914 970 1.16e-18 SMART
DysFC 979 1017 1.04e-11 SMART
DysFC 1037 1070 1.62e-8 SMART
C2 1127 1234 5.03e-12 SMART
C2 1289 1396 1.15e1 SMART
low complexity region 1425 1436 N/A INTRINSIC
low complexity region 1515 1526 N/A INTRINSIC
C2 1541 1640 2.66e-11 SMART
C2 1776 1905 2.81e-1 SMART
Pfam:Ferlin_C 1939 2043 2.4e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172095
AA Change: K1571R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: K1571R

DomainStartEndE-ValueType
C2 1 100 7.56e-16 SMART
low complexity region 142 159 N/A INTRINSIC
C2 200 299 4.03e-11 SMART
FerI 282 353 2.76e-37 SMART
C2 359 473 2.93e-13 SMART
low complexity region 532 543 N/A INTRINSIC
FerA 663 728 5.07e-27 SMART
FerB 755 829 2.39e-46 SMART
DysFN 843 901 6.42e-21 SMART
DysFN 914 970 1.16e-18 SMART
DysFC 979 1017 1.04e-11 SMART
DysFC 1037 1070 1.62e-8 SMART
C2 1127 1234 5.03e-12 SMART
C2 1289 1396 1.15e1 SMART
low complexity region 1515 1526 N/A INTRINSIC
C2 1541 1640 2.66e-11 SMART
C2 1776 1905 2.81e-1 SMART
transmembrane domain 2013 2035 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224580
Predicted Effect probably null
Transcript: ENSMUST00000225159
Predicted Effect probably benign
Transcript: ENSMUST00000226068
AA Change: K1584R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the ferlin family of proteins, which have been implicated in fusion events in muscle tissue. Members of this family have a carboxy-terminal single pass transmembrane domain and multiple C2 domains, which bind negatively charged phospholipids in the presence of calcium ions. This gene is expressed at high levels in myoblasts and upregulated in damaged skeletal muscle. Mice deficient in this protein display defects in myoblast fusion, muscle regeneration, and angiogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,168 (GRCm39) Y69H probably damaging Het
Afap1l2 A T 19: 56,908,995 (GRCm39) S310R probably damaging Het
Aldh7a1 A G 18: 56,675,288 (GRCm39) probably benign Het
Anxa8 T A 14: 33,818,481 (GRCm39) probably null Het
Ap1ar T C 3: 127,602,192 (GRCm39) E282G probably damaging Het
Arl6ip6 T G 2: 53,092,939 (GRCm39) S155A probably benign Het
Armc9 T C 1: 86,092,557 (GRCm39) F107S probably damaging Het
Ash1l C A 3: 88,891,488 (GRCm39) D1122E probably benign Het
Atp2b4 T A 1: 133,656,512 (GRCm39) I713F probably damaging Het
BC005624 A C 2: 30,863,317 (GRCm39) probably benign Het
Calcrl T C 2: 84,169,586 (GRCm39) D365G probably benign Het
Ccdc110 A G 8: 46,396,221 (GRCm39) N704S probably benign Het
Ccr10 G T 11: 101,065,492 (GRCm39) L13I probably benign Het
Cfap52 A G 11: 67,844,341 (GRCm39) Y125H probably damaging Het
Cnr2 C A 4: 135,644,936 (GRCm39) T338K possibly damaging Het
Cntn2 T A 1: 132,444,308 (GRCm39) D935V probably damaging Het
Cog7 T C 7: 121,543,067 (GRCm39) K448R possibly damaging Het
Csnk1g2 G A 10: 80,474,369 (GRCm39) D197N probably damaging Het
Cyp2e1 T A 7: 140,343,824 (GRCm39) S21T probably damaging Het
Dcaf11 T C 14: 55,801,592 (GRCm39) F187L probably damaging Het
Dmd T A X: 82,922,110 (GRCm39) F1460Y probably benign Het
Dnah11 G A 12: 117,874,775 (GRCm39) A4030V probably damaging Het
Dnah7a A G 1: 53,561,519 (GRCm39) V2046A possibly damaging Het
Dnajc6 T C 4: 101,496,497 (GRCm39) I820T probably damaging Het
Dsel T C 1: 111,788,462 (GRCm39) D691G possibly damaging Het
Fbp1 T A 13: 63,016,894 (GRCm39) M203L probably benign Het
Fndc1 T C 17: 7,992,470 (GRCm39) T409A unknown Het
Golgb1 T G 16: 36,746,211 (GRCm39) L2930R probably damaging Het
Htr2a A G 14: 74,882,583 (GRCm39) T190A probably benign Het
Klra4 C T 6: 130,021,033 (GRCm39) C254Y probably damaging Het
Large1 A T 8: 73,858,667 (GRCm39) V67E probably benign Het
Lins1 T C 7: 66,363,931 (GRCm39) S609P probably damaging Het
Magi3 T C 3: 104,002,473 (GRCm39) E156G probably damaging Het
Mdh1b A G 1: 63,754,523 (GRCm39) probably benign Het
Mfsd6 T C 1: 52,748,037 (GRCm39) D276G probably benign Het
Myh9 T A 15: 77,680,220 (GRCm39) K185* probably null Het
Naip2 T G 13: 100,298,020 (GRCm39) Y672S possibly damaging Het
Nbeal1 A G 1: 60,326,603 (GRCm39) probably benign Het
Nbeal2 T A 9: 110,457,344 (GRCm39) H2273L probably damaging Het
Neb T C 2: 52,090,733 (GRCm39) K1346E possibly damaging Het
Nfatc2 T C 2: 168,346,370 (GRCm39) D908G probably damaging Het
Nlgn2 T C 11: 69,718,080 (GRCm39) N375S probably benign Het
Nova1 G T 12: 46,767,505 (GRCm39) Q139K unknown Het
Opa3 A T 7: 18,962,507 (GRCm39) Q47L probably damaging Het
Or10g7 T A 9: 39,905,109 (GRCm39) M1K probably null Het
Or2t47 A G 11: 58,442,987 (GRCm39) L26P probably damaging Het
Or6c205 T A 10: 129,086,794 (GRCm39) Y130* probably null Het
Pacs1 A T 19: 5,185,138 (GRCm39) probably benign Het
Pappa2 T A 1: 158,609,829 (GRCm39) H1544L probably damaging Het
Pax8 A G 2: 24,334,627 (GRCm39) S48P probably damaging Het
Pdilt T C 7: 119,097,272 (GRCm39) N70S possibly damaging Het
Poldip3 T C 15: 83,013,469 (GRCm39) probably benign Het
Ppp6r1 T A 7: 4,645,211 (GRCm39) I80F probably damaging Het
Pycr2 T A 1: 180,732,304 (GRCm39) probably null Het
Rapgef2 C T 3: 78,976,187 (GRCm39) probably benign Het
Rbm44 T A 1: 91,080,902 (GRCm39) D363E probably damaging Het
Rnf213 A T 11: 119,318,336 (GRCm39) I1046F probably damaging Het
Ryr2 A G 13: 11,606,155 (GRCm39) S4476P probably damaging Het
Scara5 G A 14: 66,000,278 (GRCm39) D483N unknown Het
Scmh1 T A 4: 120,325,586 (GRCm39) F101Y probably damaging Het
Sgo2a T A 1: 58,055,511 (GRCm39) V565E probably damaging Het
Simc1 T C 13: 54,673,071 (GRCm39) M473T probably benign Het
Skint6 T A 4: 113,095,381 (GRCm39) R93* probably null Het
Skint7 T C 4: 111,839,375 (GRCm39) V223A possibly damaging Het
Slc25a2 T C 18: 37,770,939 (GRCm39) I197V probably benign Het
Slit2 A G 5: 48,374,816 (GRCm39) T361A probably benign Het
Sugp1 G A 8: 70,522,776 (GRCm39) G492D probably damaging Het
Svep1 C T 4: 58,145,301 (GRCm39) G388D probably damaging Het
Tbpl2 G T 2: 23,983,888 (GRCm39) A183E probably damaging Het
Tcerg1l G T 7: 137,831,619 (GRCm39) P453T probably damaging Het
Tdpoz2 T C 3: 93,559,046 (GRCm39) T309A probably benign Het
Thbs4 T A 13: 92,927,306 (GRCm39) Y61F probably benign Het
Tmem117 C A 15: 94,992,656 (GRCm39) P439T probably damaging Het
Tmem151a A G 19: 5,132,993 (GRCm39) V71A probably benign Het
Tmem268 G T 4: 63,486,691 (GRCm39) probably benign Het
Tmem43 T A 6: 91,454,356 (GRCm39) Y48N possibly damaging Het
Tmigd1 T C 11: 76,804,812 (GRCm39) V217A probably benign Het
Tmprss11g A T 5: 86,645,188 (GRCm39) probably benign Het
Tsn T C 1: 118,237,551 (GRCm39) I38V probably benign Het
Ttc41 A T 10: 86,569,518 (GRCm39) Y632F probably damaging Het
Vmn2r117 C T 17: 23,694,552 (GRCm39) probably benign Het
Vmn2r12 A T 5: 109,238,351 (GRCm39) I463N probably benign Het
Wdsub1 T A 2: 59,683,176 (GRCm39) N466I probably damaging Het
Zdhhc21 A T 4: 82,762,427 (GRCm39) I56N probably benign Het
Zfand4 A G 6: 116,250,617 (GRCm39) T16A possibly damaging Het
Zmym4 T C 4: 126,842,268 (GRCm39) E15G probably damaging Het
Other mutations in Myof
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Myof APN 19 37,949,382 (GRCm39) missense probably benign 0.16
IGL00764:Myof APN 19 37,963,371 (GRCm39) missense probably benign 0.04
IGL00801:Myof APN 19 37,974,521 (GRCm39) missense probably damaging 0.99
IGL01084:Myof APN 19 37,924,884 (GRCm39) missense probably damaging 1.00
IGL01368:Myof APN 19 37,924,905 (GRCm39) missense probably damaging 0.97
IGL01472:Myof APN 19 37,911,524 (GRCm39) missense probably benign
IGL01785:Myof APN 19 37,968,871 (GRCm39) nonsense probably null
IGL02205:Myof APN 19 37,913,083 (GRCm39) missense probably damaging 1.00
IGL02268:Myof APN 19 37,963,311 (GRCm39) missense possibly damaging 0.90
IGL02268:Myof APN 19 37,942,877 (GRCm39) missense possibly damaging 0.50
IGL02339:Myof APN 19 37,960,661 (GRCm39) missense possibly damaging 0.46
IGL02433:Myof APN 19 37,960,641 (GRCm39) missense probably benign 0.05
IGL02481:Myof APN 19 37,926,361 (GRCm39) nonsense probably null
IGL02536:Myof APN 19 37,938,103 (GRCm39) missense probably damaging 0.97
IGL02682:Myof APN 19 37,909,929 (GRCm39) missense probably benign 0.09
IGL02732:Myof APN 19 37,966,164 (GRCm39) missense possibly damaging 0.50
IGL03114:Myof APN 19 37,892,309 (GRCm39) missense probably damaging 1.00
IGL03137:Myof APN 19 37,963,337 (GRCm39) missense probably damaging 1.00
IGL03340:Myof APN 19 37,899,607 (GRCm39) missense probably damaging 1.00
PIT4791001:Myof UTSW 19 37,971,406 (GRCm39) critical splice donor site probably null
R0024:Myof UTSW 19 37,904,188 (GRCm39) missense probably damaging 0.98
R0140:Myof UTSW 19 37,940,004 (GRCm39) nonsense probably null
R0309:Myof UTSW 19 37,969,714 (GRCm39) missense probably benign 0.12
R0330:Myof UTSW 19 37,924,326 (GRCm39) missense probably damaging 1.00
R0345:Myof UTSW 19 38,012,793 (GRCm39) missense probably damaging 1.00
R0349:Myof UTSW 19 37,899,417 (GRCm39) missense probably damaging 0.99
R0463:Myof UTSW 19 37,904,952 (GRCm39) missense probably damaging 1.00
R0507:Myof UTSW 19 37,889,725 (GRCm39) missense possibly damaging 0.94
R0512:Myof UTSW 19 37,942,972 (GRCm39) missense possibly damaging 0.54
R0608:Myof UTSW 19 37,904,952 (GRCm39) missense probably damaging 1.00
R0723:Myof UTSW 19 37,969,708 (GRCm39) missense probably damaging 1.00
R1081:Myof UTSW 19 37,974,536 (GRCm39) missense probably damaging 0.99
R1196:Myof UTSW 19 37,899,408 (GRCm39) missense probably damaging 1.00
R1243:Myof UTSW 19 37,924,540 (GRCm39) missense probably damaging 1.00
R1371:Myof UTSW 19 37,892,116 (GRCm39) splice site probably benign
R1381:Myof UTSW 19 37,983,933 (GRCm39) missense probably damaging 1.00
R1419:Myof UTSW 19 37,890,359 (GRCm39) missense probably damaging 1.00
R1527:Myof UTSW 19 37,913,067 (GRCm39) missense probably damaging 1.00
R1672:Myof UTSW 19 37,931,927 (GRCm39) missense probably damaging 1.00
R1864:Myof UTSW 19 37,975,153 (GRCm39) missense probably benign
R1914:Myof UTSW 19 37,966,141 (GRCm39) missense probably damaging 1.00
R1915:Myof UTSW 19 37,966,141 (GRCm39) missense probably damaging 1.00
R1970:Myof UTSW 19 37,934,082 (GRCm39) missense probably damaging 0.99
R2062:Myof UTSW 19 37,904,194 (GRCm39) missense possibly damaging 0.94
R2144:Myof UTSW 19 37,969,669 (GRCm39) critical splice donor site probably null
R2243:Myof UTSW 19 37,889,767 (GRCm39) missense probably damaging 1.00
R2339:Myof UTSW 19 37,926,375 (GRCm39) missense probably damaging 1.00
R2484:Myof UTSW 19 37,892,291 (GRCm39) missense probably benign 0.13
R2880:Myof UTSW 19 37,911,473 (GRCm39) missense probably benign 0.04
R3418:Myof UTSW 19 37,911,426 (GRCm39) missense probably damaging 0.97
R3967:Myof UTSW 19 38,011,058 (GRCm39) missense possibly damaging 0.59
R3967:Myof UTSW 19 37,889,711 (GRCm39) missense probably damaging 1.00
R3970:Myof UTSW 19 38,011,058 (GRCm39) missense possibly damaging 0.59
R3970:Myof UTSW 19 37,889,711 (GRCm39) missense probably damaging 1.00
R4238:Myof UTSW 19 37,911,456 (GRCm39) nonsense probably null
R4405:Myof UTSW 19 37,911,426 (GRCm39) missense probably damaging 0.97
R4406:Myof UTSW 19 37,911,426 (GRCm39) missense probably damaging 0.97
R4407:Myof UTSW 19 37,911,426 (GRCm39) missense probably damaging 0.97
R4408:Myof UTSW 19 37,911,426 (GRCm39) missense probably damaging 0.97
R4561:Myof UTSW 19 37,911,438 (GRCm39) missense probably benign
R4606:Myof UTSW 19 37,955,547 (GRCm39) missense probably damaging 1.00
R4778:Myof UTSW 19 37,938,011 (GRCm39) missense probably damaging 1.00
R4801:Myof UTSW 19 37,934,186 (GRCm39) missense probably benign 0.24
R4802:Myof UTSW 19 37,934,186 (GRCm39) missense probably benign 0.24
R4812:Myof UTSW 19 37,905,007 (GRCm39) missense probably damaging 1.00
R4884:Myof UTSW 19 37,930,805 (GRCm39) missense probably damaging 1.00
R4964:Myof UTSW 19 37,924,300 (GRCm39) missense probably damaging 0.97
R4966:Myof UTSW 19 37,924,300 (GRCm39) missense probably damaging 0.97
R5069:Myof UTSW 19 37,893,773 (GRCm39) missense possibly damaging 0.65
R5181:Myof UTSW 19 37,921,071 (GRCm39) missense possibly damaging 0.95
R5376:Myof UTSW 19 37,904,848 (GRCm39) missense probably damaging 1.00
R5384:Myof UTSW 19 37,941,435 (GRCm39) missense probably damaging 0.98
R5543:Myof UTSW 19 37,969,778 (GRCm39) missense probably benign 0.00
R5626:Myof UTSW 19 37,911,438 (GRCm39) missense probably benign
R5865:Myof UTSW 19 37,899,382 (GRCm39) missense probably damaging 1.00
R5919:Myof UTSW 19 38,012,818 (GRCm39) missense possibly damaging 0.95
R5924:Myof UTSW 19 37,971,421 (GRCm39) missense probably damaging 0.97
R5997:Myof UTSW 19 37,893,747 (GRCm39) missense possibly damaging 0.90
R5999:Myof UTSW 19 37,928,304 (GRCm39) nonsense probably null
R6039:Myof UTSW 19 37,966,132 (GRCm39) missense probably damaging 1.00
R6039:Myof UTSW 19 37,966,132 (GRCm39) missense probably damaging 1.00
R6041:Myof UTSW 19 37,913,068 (GRCm39) missense probably damaging 1.00
R6051:Myof UTSW 19 38,012,809 (GRCm39) missense probably damaging 1.00
R6057:Myof UTSW 19 37,915,429 (GRCm39) critical splice donor site probably null
R6089:Myof UTSW 19 37,955,508 (GRCm39) missense probably benign 0.37
R6195:Myof UTSW 19 37,901,805 (GRCm39) missense possibly damaging 0.89
R6478:Myof UTSW 19 37,892,279 (GRCm39) missense probably damaging 1.00
R6545:Myof UTSW 19 37,930,745 (GRCm39) missense possibly damaging 0.67
R6655:Myof UTSW 19 37,923,239 (GRCm39) missense probably damaging 1.00
R6715:Myof UTSW 19 37,956,794 (GRCm39) missense probably benign 0.04
R6737:Myof UTSW 19 37,931,962 (GRCm39) missense probably benign 0.01
R6837:Myof UTSW 19 37,911,404 (GRCm39) critical splice donor site probably null
R7096:Myof UTSW 19 37,924,648 (GRCm39) missense probably damaging 1.00
R7308:Myof UTSW 19 37,899,359 (GRCm39) missense probably damaging 0.98
R7328:Myof UTSW 19 37,904,847 (GRCm39) missense probably damaging 1.00
R7485:Myof UTSW 19 37,939,939 (GRCm39) nonsense probably null
R7554:Myof UTSW 19 37,942,958 (GRCm39) missense probably benign 0.09
R7759:Myof UTSW 19 37,928,346 (GRCm39) missense probably benign 0.00
R7779:Myof UTSW 19 37,927,838 (GRCm39) missense probably damaging 1.00
R8116:Myof UTSW 19 37,921,167 (GRCm39) missense probably damaging 0.99
R8264:Myof UTSW 19 37,909,881 (GRCm39) missense probably damaging 1.00
R8415:Myof UTSW 19 37,983,872 (GRCm39) missense probably benign
R8756:Myof UTSW 19 37,928,400 (GRCm39) missense probably benign
R8777:Myof UTSW 19 37,968,841 (GRCm39) missense probably benign 0.01
R8777-TAIL:Myof UTSW 19 37,968,841 (GRCm39) missense probably benign 0.01
R8835:Myof UTSW 19 37,955,547 (GRCm39) missense possibly damaging 0.92
R9046:Myof UTSW 19 37,923,112 (GRCm39) intron probably benign
R9396:Myof UTSW 19 37,923,294 (GRCm39) missense probably damaging 1.00
R9415:Myof UTSW 19 37,941,412 (GRCm39) missense probably damaging 1.00
R9450:Myof UTSW 19 37,949,374 (GRCm39) missense probably damaging 1.00
R9451:Myof UTSW 19 37,966,096 (GRCm39) critical splice donor site probably null
R9537:Myof UTSW 19 37,896,054 (GRCm39) missense probably damaging 1.00
R9592:Myof UTSW 19 38,031,737 (GRCm39) missense probably damaging 0.99
R9616:Myof UTSW 19 37,923,263 (GRCm39) missense possibly damaging 0.52
R9751:Myof UTSW 19 37,924,818 (GRCm39) missense probably benign
X0024:Myof UTSW 19 37,963,045 (GRCm39) missense probably benign 0.14
Posted On 2015-12-18