Incidental Mutation 'R0512:Myof'
ID 47949
Institutional Source Beutler Lab
Gene Symbol Myof
Ensembl Gene ENSMUSG00000048612
Gene Name myoferlin
Synonyms E030042N20Rik, 2310051D19Rik, Fer1l3
MMRRC Submission 038706-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0512 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 37887484-38032025 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37942972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 702 (V702A)
Ref Sequence ENSEMBL: ENSMUSP00000045036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041475] [ENSMUST00000172095] [ENSMUST00000225159] [ENSMUST00000226068]
AlphaFold Q69ZN7
Predicted Effect possibly damaging
Transcript: ENSMUST00000041475
AA Change: V702A

PolyPhen 2 Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: V702A

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: V702A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: V702A

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: ENSMUST00000223650
Predicted Effect probably benign
Transcript: ENSMUST00000225159
AA Change: V186A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000226068
AA Change: V715A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0772 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (92/92)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T G 5: 115,001,569 (GRCm39) M22R probably benign Het
Abca8b C A 11: 109,841,476 (GRCm39) M1039I probably benign Het
Actn2 A T 13: 12,292,301 (GRCm39) I653N probably damaging Het
Actr8 G T 14: 29,700,513 (GRCm39) V31L probably benign Het
Adam30 T C 3: 98,069,441 (GRCm39) C425R probably damaging Het
Armc1 A G 3: 19,203,659 (GRCm39) V89A possibly damaging Het
Atr T C 9: 95,817,579 (GRCm39) M2090T probably damaging Het
Braf T A 6: 39,641,923 (GRCm39) probably benign Het
Cant1 A T 11: 118,302,091 (GRCm39) N75K probably benign Het
Chd7 C T 4: 8,805,139 (GRCm39) probably benign Het
Clec16a A G 16: 10,432,444 (GRCm39) Y488C probably damaging Het
Col6a3 A T 1: 90,749,520 (GRCm39) probably benign Het
Col9a2 T A 4: 120,911,504 (GRCm39) M615K probably benign Het
Dedd G A 1: 171,168,498 (GRCm39) R228H probably damaging Het
Dhtkd1 C T 2: 5,908,902 (GRCm39) D731N probably damaging Het
Ercc2 A G 7: 19,127,812 (GRCm39) T651A probably damaging Het
Fam13a T A 6: 58,933,684 (GRCm39) D302V probably damaging Het
Fam193a T C 5: 34,583,735 (GRCm39) S19P probably damaging Het
Fam43a T C 16: 30,420,553 (GRCm39) V379A possibly damaging Het
Fat1 C A 8: 45,404,369 (GRCm39) Y373* probably null Het
Fbxl15 A C 19: 46,317,861 (GRCm39) D181A probably damaging Het
Flt3 A T 5: 147,278,080 (GRCm39) C831* probably null Het
Foxj3 T A 4: 119,443,033 (GRCm39) probably benign Het
Glul T C 1: 153,781,132 (GRCm39) probably benign Het
Gm16380 A T 9: 53,791,529 (GRCm39) noncoding transcript Het
Gm7964 A T 7: 83,405,158 (GRCm39) noncoding transcript Het
Hipk1 A G 3: 103,667,890 (GRCm39) F559S possibly damaging Het
Hnf4g A T 3: 3,716,682 (GRCm39) I284F probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Icosl A G 10: 77,907,800 (GRCm39) N120S possibly damaging Het
Ift172 A G 5: 31,442,821 (GRCm39) V155A possibly damaging Het
Kdm4c A G 4: 74,252,031 (GRCm39) E426G probably benign Het
Kif23 A G 9: 61,826,257 (GRCm39) probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lama1 G A 17: 68,086,129 (GRCm39) C1456Y possibly damaging Het
Lamc3 T A 2: 31,827,980 (GRCm39) L1378Q probably damaging Het
Larp1b T A 3: 40,924,469 (GRCm39) L121M probably benign Het
Lepr T A 4: 101,649,216 (GRCm39) D872E probably damaging Het
Lepr A C 4: 101,671,901 (GRCm39) D975A possibly damaging Het
Magi1 A G 6: 93,671,045 (GRCm39) V1068A probably damaging Het
Malt1 T A 18: 65,591,271 (GRCm39) N358K probably damaging Het
Mfap4 T A 11: 61,378,771 (GRCm39) W240R probably damaging Het
Mis18a A G 16: 90,523,244 (GRCm39) V84A possibly damaging Het
Mns1 A G 9: 72,356,753 (GRCm39) E308G possibly damaging Het
Mpp2 C A 11: 101,953,116 (GRCm39) L258F possibly damaging Het
Myh2 A G 11: 67,079,504 (GRCm39) E987G probably damaging Het
Nhs C A X: 160,620,355 (GRCm39) R1467I probably damaging Het
Nrxn2 A G 19: 6,567,228 (GRCm39) T1360A probably damaging Het
Obox6 A G 7: 15,567,874 (GRCm39) I191T probably benign Het
Pacs2 G T 12: 113,014,547 (GRCm39) R236L probably damaging Het
Pcdhb2 T G 18: 37,429,032 (GRCm39) V335G probably damaging Het
Phyhipl T C 10: 70,404,748 (GRCm39) I140M probably damaging Het
Pkhd1 T C 1: 20,380,738 (GRCm39) probably benign Het
Ppp1r3b T G 8: 35,851,571 (GRCm39) C137G probably damaging Het
Prdm13 T A 4: 21,678,490 (GRCm39) I667F probably damaging Het
Prex2 A G 1: 11,270,157 (GRCm39) M1281V probably benign Het
Rab40b A G 11: 121,250,412 (GRCm39) F81L probably damaging Het
Rb1cc1 T C 1: 6,318,767 (GRCm39) S729P probably damaging Het
Rcl1 A G 19: 29,105,497 (GRCm39) D228G probably damaging Het
Rhbdf1 A T 11: 32,160,875 (GRCm39) C19* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf150 G A 8: 83,590,807 (GRCm39) V57M probably benign Het
Rp9 A G 9: 22,370,015 (GRCm39) F51L probably benign Het
Sav1 A T 12: 70,015,975 (GRCm39) Y274* probably null Het
Scn4a A T 11: 106,236,503 (GRCm39) D252E probably damaging Het
Scn5a T C 9: 119,379,724 (GRCm39) T187A probably damaging Het
Sigirr T A 7: 140,672,333 (GRCm39) D229V probably benign Het
Slc39a13 T C 2: 90,896,031 (GRCm39) S157G possibly damaging Het
Slc6a20a A G 9: 123,489,471 (GRCm39) S191P probably damaging Het
Sorl1 C A 9: 41,979,128 (GRCm39) A457S probably benign Het
Spag5 A G 11: 78,210,412 (GRCm39) probably benign Het
Spon1 A G 7: 113,436,066 (GRCm39) E119G possibly damaging Het
Spred2 T A 11: 19,958,485 (GRCm39) probably benign Het
Sprr3 T G 3: 92,364,784 (GRCm39) Q20P possibly damaging Het
Strn3 A T 12: 51,673,966 (GRCm39) F464L possibly damaging Het
Sun1 A G 5: 139,220,602 (GRCm39) probably benign Het
Sypl2 A G 3: 108,133,486 (GRCm39) W28R possibly damaging Het
Syt5 A T 7: 4,545,813 (GRCm39) V150D probably damaging Het
Tasor T C 14: 27,168,363 (GRCm39) F302L probably damaging Het
Thsd7a A G 6: 12,379,604 (GRCm39) I940T possibly damaging Het
Tlcd3b C T 7: 126,426,795 (GRCm39) R73C probably damaging Het
Tnrc6a T A 7: 122,785,951 (GRCm39) probably benign Het
Trp53 T A 11: 69,479,509 (GRCm39) L203Q probably damaging Het
Tubgcp4 T C 2: 121,005,900 (GRCm39) V96A probably benign Het
Usp17la A G 7: 104,510,246 (GRCm39) T284A possibly damaging Het
Usp34 T C 11: 23,401,997 (GRCm39) M2409T probably benign Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r56 A G 7: 12,449,350 (GRCm39) I296T probably benign Het
Vmn2r67 A G 7: 84,799,900 (GRCm39) V446A probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp267 T C 3: 36,220,262 (GRCm39) C762R 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
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
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
Predicted Primers PCR Primer
(F):5'- GATCAGATCCAATCCCAGTCGCAG -3'
(R):5'- CAATCTACGTGAAATGGCGTGCAG -3'

Sequencing Primer
(F):5'- GTCGCAGATATACCAGATGACC -3'
(R):5'- TGGCGTGCAGACATACATTAAAC -3'
Posted On 2013-06-12