Incidental Mutation 'R5999:Myof'
ID 480750
Institutional Source Beutler Lab
Gene Symbol Myof
Ensembl Gene ENSMUSG00000048612
Gene Name myoferlin
Synonyms E030042N20Rik, 2310051D19Rik, Fer1l3
MMRRC Submission 044178-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5999 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 37887484-38032025 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 37928304 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 1095 (E1095*)
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: E1082*
SMART Domains Protein: ENSMUSP00000045036
Gene: ENSMUSG00000048612
AA Change: E1082*

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: E1082*
SMART Domains Protein: ENSMUSP00000129792
Gene: ENSMUSG00000048612
AA Change: E1082*

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 null
Transcript: ENSMUST00000225159
AA Change: E566*
Predicted Effect probably null
Transcript: ENSMUST00000226068
AA Change: E1095*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 90.9%
Validation Efficiency 98% (55/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 A G 12: 84,122,328 (GRCm39) D304G probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Akap9 A G 5: 4,093,925 (GRCm39) N2149S probably damaging Het
Akp3 T A 1: 87,055,263 (GRCm39) Y437N probably damaging Het
Anks1b C T 10: 90,194,910 (GRCm39) T530I probably damaging Het
Bltp2 T C 11: 78,176,294 (GRCm39) F1799L probably damaging Het
Bnc2 C T 4: 84,474,137 (GRCm39) R3H probably benign Het
Cald1 A T 6: 34,723,273 (GRCm39) probably benign Het
Capn9 A G 8: 125,315,817 (GRCm39) T87A probably damaging Het
Ccdc88c A G 12: 100,934,613 (GRCm39) L175P probably damaging Het
Cd226 T C 18: 89,225,343 (GRCm39) V80A probably damaging Het
Cd44 A T 2: 102,675,742 (GRCm39) N310K probably benign Het
Cenpc1 T A 5: 86,160,122 (GRCm39) K905N probably damaging Het
Cept1 A T 3: 106,440,759 (GRCm39) D133E probably damaging Het
Cltc T C 11: 86,594,955 (GRCm39) H1381R possibly damaging Het
Col4a4 T A 1: 82,470,340 (GRCm39) T730S unknown Het
Col6a4 A T 9: 105,945,120 (GRCm39) M998K probably benign Het
Cpne6 T C 14: 55,750,516 (GRCm39) V119A probably benign Het
Ddx54 G T 5: 120,761,645 (GRCm39) A474S probably benign Het
Dmbx1 G T 4: 115,775,373 (GRCm39) N302K probably damaging Het
Dnah8 A G 17: 30,882,279 (GRCm39) E617G probably benign Het
Ei24 A G 9: 36,704,603 (GRCm39) V10A probably benign Het
Elp3 A G 14: 65,768,989 (GRCm39) V543A probably benign Het
Frmd3 T C 4: 74,088,928 (GRCm39) I375T possibly damaging Het
Gm6408 A G 5: 146,421,067 (GRCm39) D232G possibly damaging Het
Inmt A T 6: 55,151,933 (GRCm39) Y12* probably null Het
Inpp5k G T 11: 75,523,926 (GRCm39) A44S probably damaging Het
Kalrn T A 16: 34,177,713 (GRCm39) T169S probably damaging Het
Kif28 A T 1: 179,523,355 (GRCm39) F992I probably damaging Het
Kmt2c A T 5: 25,489,203 (GRCm39) Y1199N probably damaging Het
Large2 C T 2: 92,196,403 (GRCm39) E475K probably benign Het
Mroh2b T A 15: 4,942,366 (GRCm39) probably null Het
Mrpl42 T C 10: 95,336,341 (GRCm39) probably benign Het
Muc5b A T 7: 141,411,116 (GRCm39) H1354L unknown Het
Ncor2 A G 5: 125,110,505 (GRCm39) V1385A probably damaging Het
Nr5a2 T C 1: 136,773,280 (GRCm39) Y474C probably damaging Het
Or1j10 A G 2: 36,267,322 (GRCm39) D178G probably damaging Het
Or5a21 C T 19: 12,311,008 (GRCm39) D71N probably damaging Het
Or5l13 A T 2: 87,780,145 (GRCm39) probably null Het
Pogz A G 3: 94,763,428 (GRCm39) T67A possibly damaging Het
Prep T A 10: 44,948,225 (GRCm39) probably null Het
Prf1 A G 10: 61,138,807 (GRCm39) D255G probably damaging Het
Psme2 A G 14: 55,827,539 (GRCm39) L24P probably damaging Het
Scmh1 T A 4: 120,362,712 (GRCm39) probably null Het
Scpep1 A G 11: 88,820,139 (GRCm39) V383A possibly damaging Het
Slc4a10 A T 2: 62,073,775 (GRCm39) N279I probably benign Het
Sphkap T C 1: 83,245,126 (GRCm39) S1498G probably benign Het
Spinkl C A 18: 44,301,206 (GRCm39) S44I probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tle5 T C 10: 81,397,098 (GRCm39) S25P probably damaging Het
Tmem213 A G 6: 38,086,386 (GRCm39) Q14R probably benign Het
Tns1 A T 1: 73,967,256 (GRCm39) Y1172* probably null Het
Ugt2b37 A C 5: 87,402,036 (GRCm39) I198M probably benign Het
Usp17lb A C 7: 104,489,552 (GRCm39) I457M probably damaging Het
Usp6nl G T 2: 6,446,150 (GRCm39) R709L probably damaging Het
Zer1 A G 2: 29,995,009 (GRCm39) L462P probably damaging Het
Zfhx2 A G 14: 55,311,462 (GRCm39) S411P 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
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'- CTTCACTGTTGTTCTGAGGACC -3'
(R):5'- ACTTCTATTGTAGGCCATGGAAG -3'

Sequencing Primer
(F):5'- CTTCCTAAGATGGGAGTCACTGGC -3'
(R):5'- CTATTGTAGGCCATGGAAGAACTTG -3'
Posted On 2017-06-26