Incidental Mutation 'R0140:Myof'
ID 22288
Institutional Source Beutler Lab
Gene Symbol Myof
Ensembl Gene ENSMUSG00000048612
Gene Name myoferlin
Synonyms E030042N20Rik, 2310051D19Rik, Fer1l3
MMRRC Submission 038425-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0140 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 37887484-38032025 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 37940004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 820 (Y820*)
Ref Sequence ENSEMBL: ENSMUSP00000153225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041475] [ENSMUST00000172095] [ENSMUST00000225159] [ENSMUST00000226068]
AlphaFold Q69ZN7
Predicted Effect probably null
Transcript: ENSMUST00000041475
AA Change: Y807*
SMART Domains Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: Y807*

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 null
Transcript: ENSMUST00000172095
AA Change: Y807*
SMART Domains Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: Y807*

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 null
Transcript: ENSMUST00000225159
AA Change: Y291*
Predicted Effect probably null
Transcript: ENSMUST00000226068
AA Change: Y820*
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 98% (79/81)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
9330161L09Rik T C 12: 103,373,587 (GRCm39) probably benign Het
Abca2 T G 2: 25,328,097 (GRCm39) probably null Het
Adgrf3 T C 5: 30,401,379 (GRCm39) K13R probably benign Het
Arhgap15 C A 2: 44,212,779 (GRCm39) F416L probably damaging Het
Arhgef26 C G 3: 62,355,666 (GRCm39) T746R probably benign Het
Aspm C T 1: 139,408,379 (GRCm39) T2422I probably benign Het
Atp4a C G 7: 30,419,526 (GRCm39) R659G probably benign Het
AY358078 T A 14: 52,063,399 (GRCm39) D348E probably benign Het
Blnk A T 19: 40,928,668 (GRCm39) S285T probably damaging Het
Calr3 C T 8: 73,188,732 (GRCm39) probably benign Het
Camsap2 A T 1: 136,208,120 (GRCm39) V1124D probably benign Het
Ccdc40 G A 11: 119,155,125 (GRCm39) G1122S probably benign Het
Ccdc69 C A 11: 54,941,325 (GRCm39) C196F possibly damaging Het
Cdhr3 T G 12: 33,130,412 (GRCm39) N141T probably benign Het
Cdk4 T C 10: 126,900,214 (GRCm39) V37A probably damaging Het
Celsr2 C T 3: 108,305,249 (GRCm39) R2110K probably benign Het
Clcn7 A G 17: 25,372,728 (GRCm39) Y437C probably damaging Het
Col6a6 A G 9: 105,579,474 (GRCm39) F1917S probably damaging Het
Cps1 T G 1: 67,219,275 (GRCm39) S872A probably benign Het
Crebbp G T 16: 3,935,363 (GRCm39) T842N probably damaging Het
Dennd2d G A 3: 106,399,799 (GRCm39) V234I probably benign Het
Fam227b T C 2: 125,966,523 (GRCm39) M130V possibly damaging Het
Fbxw24 G T 9: 109,434,482 (GRCm39) L373I possibly damaging Het
Fubp3 T C 2: 31,498,196 (GRCm39) Y359H probably damaging Het
Gm19684 T C 17: 36,438,319 (GRCm39) probably benign Het
Hrnr C T 3: 93,238,800 (GRCm39) Q3013* probably null Het
Il12rb1 T C 8: 71,272,415 (GRCm39) probably benign Het
Lepr A T 4: 101,625,264 (GRCm39) D473V probably damaging Het
Nfil3 G A 13: 53,121,681 (GRCm39) Q408* probably null Het
Nolc1 G A 19: 46,069,817 (GRCm39) probably benign Het
Npbwr1 A C 1: 5,986,840 (GRCm39) Y225D probably damaging Het
Nrip3 T C 7: 109,361,022 (GRCm39) probably benign Het
Ntrk1 A C 3: 87,685,875 (GRCm39) L749R probably damaging Het
Or10ag53 A G 2: 87,082,969 (GRCm39) I229M probably damaging Het
Or2b11 A G 11: 59,461,804 (GRCm39) L254P probably damaging Het
Or4c126 T A 2: 89,824,463 (GRCm39) V242D probably damaging Het
Or52a24 A G 7: 103,381,349 (GRCm39) D72G probably damaging Het
Or6c211 G T 10: 129,505,557 (GRCm39) T277N probably damaging Het
Paox A T 7: 139,713,971 (GRCm39) T244S probably damaging Het
Pcdhb9 T A 18: 37,536,014 (GRCm39) D669E possibly damaging Het
Pggt1b A G 18: 46,391,150 (GRCm39) probably null Het
Phkg1 T A 5: 129,893,449 (GRCm39) I334F probably benign Het
Phtf1 A T 3: 103,894,876 (GRCm39) R208W probably null Het
Pnliprp2 A T 19: 58,754,795 (GRCm39) I280F probably benign Het
Pnma8a A G 7: 16,694,147 (GRCm39) M1V probably null Het
Prcp A G 7: 92,577,819 (GRCm39) T328A probably damaging Het
Pxdn A G 12: 30,032,753 (GRCm39) E179G probably benign Het
Racgap1 A T 15: 99,521,532 (GRCm39) N541K probably benign Het
Rnf103 T A 6: 71,486,315 (GRCm39) F315L possibly damaging Het
Septin2 A G 1: 93,429,361 (GRCm39) R237G probably damaging Het
Setd6 T A 8: 96,442,737 (GRCm39) L58Q probably damaging Het
Sipa1l1 G A 12: 82,442,974 (GRCm39) V755I probably damaging Het
Slc16a12 G T 19: 34,650,104 (GRCm39) probably benign Het
Slk G A 19: 47,610,774 (GRCm39) D815N probably damaging Het
Stx1a T C 5: 135,074,439 (GRCm39) probably benign Het
Tbc1d15 T A 10: 115,056,124 (GRCm39) I283F probably damaging Het
Tenm4 T C 7: 96,545,259 (GRCm39) I2425T possibly damaging Het
Tle1 G A 4: 72,038,422 (GRCm39) H702Y probably damaging Het
Tmc6 A G 11: 117,657,077 (GRCm39) probably benign Het
Tmem268 G A 4: 63,496,096 (GRCm39) R179H possibly damaging Het
Tmem9 A G 1: 135,961,900 (GRCm39) K165R probably damaging Het
Trpm6 A G 19: 18,796,558 (GRCm39) probably null Het
Tufm C T 7: 126,089,003 (GRCm39) P88S probably damaging Het
Ubqln1 A G 13: 58,341,103 (GRCm39) I216T probably damaging Het
Urad T G 5: 147,259,141 (GRCm39) M1L probably benign Het
Utp6 A G 11: 79,847,551 (GRCm39) probably benign Het
Vav2 C T 2: 27,163,688 (GRCm39) probably benign Het
Vmn2r55 G T 7: 12,402,104 (GRCm39) Q395K possibly damaging Het
Wwox T G 8: 115,433,027 (GRCm39) V231G probably damaging Het
Zfp646 T A 7: 127,482,678 (GRCm39) N1618K probably benign Het
Zzef1 G A 11: 72,790,377 (GRCm39) M2110I possibly 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
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
Predicted Primers PCR Primer
(F):5'- AGAGTGTCCCACTGTTGATAACCCC -3'
(R):5'- GCAGGATGAGTCTGACTTAGCACC -3'

Sequencing Primer
(F):5'- ACTGTTGATAACCCCAGGCG -3'
(R):5'- AGCACCACAATTCTAGTTGCTG -3'
Posted On 2013-04-16