Incidental Mutation 'R7096:Myof'
ID 550529
Institutional Source Beutler Lab
Gene Symbol Myof
Ensembl Gene ENSMUSG00000048612
Gene Name myoferlin
Synonyms E030042N20Rik, 2310051D19Rik, Fer1l3
MMRRC Submission 045188-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7096 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 37887484-38032025 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 37924648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 1215 (G1215V)
Ref Sequence ENSEMBL: ENSMUSP00000045036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041475] [ENSMUST00000172095] [ENSMUST00000225159] [ENSMUST00000226068]
AlphaFold Q69ZN7
Predicted Effect probably damaging
Transcript: ENSMUST00000041475
AA Change: G1215V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: G1215V

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 damaging
Transcript: ENSMUST00000172095
AA Change: G1215V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: G1215V

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 probably benign
Transcript: ENSMUST00000225159
AA Change: G699V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably damaging
Transcript: ENSMUST00000226068
AA Change: G1228V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9632 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T G 3: 40,888,305 (GRCm39) M383R probably damaging Het
Acd T A 8: 106,425,121 (GRCm39) E366V possibly damaging Het
Acvr2b T A 9: 119,257,255 (GRCm39) probably null Het
Alg10b C T 15: 90,111,564 (GRCm39) T136I probably benign Het
Ankrd42 T A 7: 92,241,040 (GRCm39) K440* probably null Het
Apc T A 18: 34,449,010 (GRCm39) S1969T probably damaging Het
Arhgef25 T C 10: 127,019,897 (GRCm39) Y447C probably damaging Het
AW146154 G A 7: 41,130,867 (GRCm39) A83V probably benign Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Barhl1 T G 2: 28,799,726 (GRCm39) I300L probably benign Het
Brd1 C A 15: 88,598,138 (GRCm39) R536L probably damaging Het
Brms1 T A 19: 5,096,708 (GRCm39) I130N probably damaging Het
Ccdc68 A G 18: 70,073,241 (GRCm39) H63R probably damaging Het
Ccl28 A G 13: 120,112,429 (GRCm39) I74V probably benign Het
Cd300ld T A 11: 114,878,321 (GRCm39) I64F possibly damaging Het
Cdkl2 G A 5: 92,181,043 (GRCm39) Q199* probably null Het
Cdkn2c C T 4: 109,518,555 (GRCm39) R133Q probably benign Het
Coq2 A G 5: 100,811,586 (GRCm39) probably benign Het
Coq6 T C 12: 84,408,595 (GRCm39) probably null Het
Csmd2 C T 4: 128,356,519 (GRCm39) S1608L Het
Cyp11b2 T A 15: 74,727,837 (GRCm39) R82W probably damaging Het
Cyp2d10 T C 15: 82,289,462 (GRCm39) T217A probably benign Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
Dnah7a T C 1: 53,522,599 (GRCm39) I2880V possibly damaging Het
Dync1h1 C A 12: 110,623,512 (GRCm39) T3595K probably damaging Het
Ecscr T A 18: 35,848,478 (GRCm39) E183V probably damaging Het
Elovl6 A G 3: 129,398,755 (GRCm39) N52S probably benign Het
Eps8l1 G T 7: 4,477,190 (GRCm39) A455S probably benign Het
Gpat2 A G 2: 127,270,209 (GRCm39) N74S probably benign Het
Gstk1 C A 6: 42,226,407 (GRCm39) T172K probably damaging Het
Gtf3c1 T C 7: 125,295,731 (GRCm39) probably null Het
Gucy2c T C 6: 136,705,339 (GRCm39) D532G probably benign Het
Hoxc12 T A 15: 102,845,473 (GRCm39) N62K possibly damaging Het
Hsdl1 C A 8: 120,293,064 (GRCm39) A124S possibly damaging Het
Il11 T C 7: 4,778,995 (GRCm39) Y45C probably damaging Het
Lcat C T 8: 106,666,309 (GRCm39) M404I possibly damaging Het
Ldhb A G 6: 142,447,099 (GRCm39) F72L probably benign Het
Map10 T C 8: 126,398,662 (GRCm39) L685P probably damaging Het
Me2 A G 18: 73,927,961 (GRCm39) V174A probably benign Het
Med13l C A 5: 118,859,991 (GRCm39) Q328K possibly damaging Het
Mta2 A T 19: 8,925,139 (GRCm39) I336F probably damaging Het
Mterf1a A T 5: 3,941,769 (GRCm39) I33N probably damaging Het
Myo15b T A 11: 115,782,324 (GRCm39) probably null Het
Nlgn2 G A 11: 69,716,516 (GRCm39) T675M probably damaging Het
Or1e26 T A 11: 73,480,463 (GRCm39) M34L probably benign Het
Or5p61 C A 7: 107,758,848 (GRCm39) M77I probably benign Het
Or6c38 T C 10: 128,929,715 (GRCm39) I43V probably damaging Het
Padi3 T C 4: 140,527,435 (GRCm39) D122G probably damaging Het
Pcnx3 G A 19: 5,722,643 (GRCm39) R1350C probably damaging Het
Pdzrn4 C A 15: 92,295,384 (GRCm39) Q197K probably benign Het
Pitpnm2 C T 5: 124,267,324 (GRCm39) G639S possibly damaging Het
Piwil4 T A 9: 14,648,112 (GRCm39) K156* probably null Het
Pkmyt1 T A 17: 23,953,087 (GRCm39) H214Q probably damaging Het
Pnpt1 G A 11: 29,104,867 (GRCm39) R597Q probably benign Het
Poteg C A 8: 27,963,595 (GRCm39) A344E probably benign Het
Rad21l A G 2: 151,509,840 (GRCm39) M87T probably benign Het
Ranbp17 T C 11: 33,424,896 (GRCm39) I487V probably benign Het
Rap1gap2 C A 11: 74,283,057 (GRCm39) R681L probably damaging Het
Rimbp2 C A 5: 128,851,333 (GRCm39) R871L probably damaging Het
Rnf135 T C 11: 80,080,051 (GRCm39) V114A probably benign Het
Skic2 T A 17: 35,060,446 (GRCm39) H849L probably benign Het
Snai2 A G 16: 14,525,028 (GRCm39) H178R possibly damaging Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Taar1 A T 10: 23,796,809 (GRCm39) E169V possibly damaging Het
Tdrd12 G T 7: 35,187,014 (GRCm39) D625E Het
Tlr6 A G 5: 65,111,119 (GRCm39) V596A probably benign Het
Trak2 T G 1: 58,942,749 (GRCm39) N886H probably damaging Het
Tsga10 T A 1: 37,879,695 (GRCm39) D32V probably damaging Het
Vmn1r214 A G 13: 23,219,196 (GRCm39) D230G probably damaging Het
Vmn2r108 A G 17: 20,682,762 (GRCm39) L814S probably damaging Het
Zbbx T C 3: 74,989,044 (GRCm39) D353G probably benign 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
IGL02887:Myof APN 19 37,909,227 (GRCm39) critical splice acceptor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- ACCTGGAATGACTGAGGTGC -3'
(R):5'- GAGGTTGAAATCTTTGGGGAAC -3'

Sequencing Primer
(F):5'- TCTAAGCAGCTCGTGGAATC -3'
(R):5'- GGAACCCCAAACAGTTCTACAG -3'
Posted On 2019-05-15