Incidental Mutation 'R4238:Myof'
ID 321237
Institutional Source Beutler Lab
Gene Symbol Myof
Ensembl Gene ENSMUSG00000048612
Gene Name myoferlin
Synonyms E030042N20Rik, 2310051D19Rik, Fer1l3
MMRRC Submission 041055-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4238 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 37887484-38032025 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 37911456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 1505 (R1505*)
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: R1492*
SMART Domains Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: R1492*

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: R1492*
SMART Domains Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: R1492*

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 probably benign
Transcript: ENSMUST00000225159
Predicted Effect probably null
Transcript: ENSMUST00000226068
AA Change: R1505*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 100% (42/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,603,478 (GRCm39) P93S probably benign Het
4930563M21Rik T C 9: 55,888,126 (GRCm39) D397G probably benign Het
Aar2 A G 2: 156,393,064 (GRCm39) E151G possibly damaging Het
Cacna2d4 A G 6: 119,217,669 (GRCm39) D125G probably null Het
Cdc20 C T 4: 118,290,257 (GRCm39) R468Q probably damaging Het
Cers3 T C 7: 66,423,424 (GRCm39) F87S probably damaging Het
Cfap74 C A 4: 155,547,529 (GRCm39) H1238Q probably benign Het
Cndp1 G T 18: 84,636,342 (GRCm39) H391N probably benign Het
Cpz T C 5: 35,659,818 (GRCm39) D609G probably benign Het
Dpp8 A G 9: 64,962,205 (GRCm39) D415G probably benign Het
Erbb2 A G 11: 98,318,869 (GRCm39) K549R probably benign Het
Fam186a T C 15: 99,841,523 (GRCm39) I1574V probably benign Het
Gm6871 G T 7: 41,195,204 (GRCm39) T511K probably damaging Het
Gpr158 G T 2: 21,373,362 (GRCm39) C99F probably damaging Het
Gtf2h1 C T 7: 46,454,489 (GRCm39) A157V probably benign Het
Hexb T C 13: 97,313,259 (GRCm39) probably benign Het
Ighv3-4 A T 12: 114,217,533 (GRCm39) D19E probably benign Het
Igkv12-44 A G 6: 69,791,868 (GRCm39) S32P probably benign Het
Klk6 A G 7: 43,478,597 (GRCm39) H168R probably benign Het
Lin54 G A 5: 100,623,603 (GRCm39) S78L possibly damaging Het
Lzts1 G T 8: 69,588,579 (GRCm39) A459E possibly damaging Het
Mlf1 G A 3: 67,291,910 (GRCm39) S25N probably benign Het
Mrgprx2 C A 7: 48,132,738 (GRCm39) V27L probably benign Het
Or4k15 T C 14: 50,364,889 (GRCm39) V285A probably benign Het
Otud7a A G 7: 63,300,702 (GRCm39) D47G probably damaging Het
Phactr1 T A 13: 43,248,363 (GRCm39) N437K possibly damaging Het
Polq G T 16: 36,833,543 (GRCm39) V79F probably damaging Het
Prc1 G A 7: 79,960,964 (GRCm39) probably benign Het
Psg20 A T 7: 18,418,434 (GRCm39) V111D probably damaging Het
Scamp3 G A 3: 89,089,234 (GRCm39) probably null Het
Simc1 C G 13: 54,674,073 (GRCm39) S807* probably null Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Snrpa A T 7: 26,892,293 (GRCm39) probably null Het
Sval2 T A 6: 41,837,283 (GRCm39) L4H probably damaging Het
Tax1bp1 C T 6: 52,743,036 (GRCm39) Q808* probably null Het
Tnfrsf11a T C 1: 105,754,962 (GRCm39) Y345H probably damaging Het
Trpa1 A G 1: 14,954,340 (GRCm39) L853P probably damaging Het
Trpm3 A G 19: 22,956,002 (GRCm39) R1155G probably damaging Het
Ube4a T C 9: 44,851,297 (GRCm39) E739G probably damaging Het
Zfp433 A C 10: 81,556,046 (GRCm39) T182P 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
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
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'- ATTTTCCTTCCTGCAGAGGG -3'
(R):5'- GAAGTGTGGCATTTTCCCAAG -3'

Sequencing Primer
(F):5'- CAGAGGGCAGAGGACATGTC -3'
(R):5'- GCATTTTCCCAAGTGGCAG -3'
Posted On 2015-06-12