Incidental Mutation 'R6932:Myo1a'
ID 540109
Institutional Source Beutler Lab
Gene Symbol Myo1a
Ensembl Gene ENSMUSG00000025401
Gene Name myosin IA
Synonyms brush border myosin 1, BBM-I, Myhl
MMRRC Submission 045047-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R6932 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 127541039-127556809 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127546327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 277 (V277L)
Ref Sequence ENSEMBL: ENSMUSP00000078540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079590]
AlphaFold O88329
Predicted Effect probably benign
Transcript: ENSMUST00000079590
AA Change: V277L

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: V277L

DomainStartEndE-ValueType
MYSc 3 695 N/A SMART
IQ 696 718 1.27e-3 SMART
IQ 719 741 1.09e-2 SMART
IQ 742 764 7.52e-6 SMART
Pfam:Myosin_TH1 847 1035 1.4e-42 PFAM
Meta Mutation Damage Score 0.3322 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency 98% (80/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mice display abnormal small intestine brush border morphology, but have normal hearing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,250,331 (GRCm39) F198I probably damaging Het
Acy1 A G 9: 106,314,826 (GRCm39) probably null Het
Adk A G 14: 21,126,376 (GRCm39) M1V probably null Het
Ahi1 A G 10: 20,839,590 (GRCm39) D167G probably benign Het
Ankrd16 T C 2: 11,791,054 (GRCm39) V290A possibly damaging Het
Arhgef5 T A 6: 43,251,351 (GRCm39) S701T possibly damaging Het
Atp13a5 C A 16: 29,100,769 (GRCm39) M673I probably damaging Het
BC005624 T C 2: 30,868,940 (GRCm39) D78G possibly damaging Het
Bcat2 C T 7: 45,238,745 (GRCm39) H347Y probably damaging Het
Bpifb4 A G 2: 153,784,547 (GRCm39) Y85C possibly damaging Het
Cdc42 T A 4: 137,049,932 (GRCm39) probably null Het
Cep170 G A 1: 176,589,003 (GRCm39) L541F possibly damaging Het
Cfap97d2 CA CAA 8: 13,784,865 (GRCm39) probably null Het
Cgrrf1 T A 14: 47,091,179 (GRCm39) N234K probably benign Het
Ctrc C T 4: 141,568,879 (GRCm39) C108Y probably damaging Het
Cyp2u1 C T 3: 131,091,945 (GRCm39) V192M possibly damaging Het
Dhx38 A T 8: 110,279,307 (GRCm39) L1013Q probably damaging Het
Dnah1 T A 14: 31,009,733 (GRCm39) N1945I probably damaging Het
Dnah10 C G 5: 124,898,514 (GRCm39) N3765K possibly damaging Het
Dnah17 C A 11: 117,950,905 (GRCm39) R2906L possibly damaging Het
Dnajc10 C T 2: 80,161,680 (GRCm39) T306I probably benign Het
Efemp2 T A 19: 5,530,273 (GRCm39) C287S probably damaging Het
Efna1 T C 3: 89,180,091 (GRCm39) R143G probably benign Het
Emilin1 A C 5: 31,074,421 (GRCm39) N221H probably damaging Het
Epg5 A G 18: 77,991,824 (GRCm39) T174A probably benign Het
Fam184b T A 5: 45,690,243 (GRCm39) probably null Het
Fchsd2 T A 7: 100,926,621 (GRCm39) C570* probably null Het
Gm4787 A T 12: 81,425,974 (GRCm39) D61E probably benign Het
Gm7356 C T 17: 14,221,925 (GRCm39) G35R probably damaging Het
Gm8220 A G 14: 44,525,645 (GRCm39) T20A probably damaging Het
Hivep2 C T 10: 14,004,245 (GRCm39) T281M probably damaging Het
Ighv2-9-1 A G 12: 113,733,692 (GRCm39) V43A probably damaging Het
Klhl33 A T 14: 51,129,373 (GRCm39) C619S probably benign Het
Kmt2a A T 9: 44,740,558 (GRCm39) probably benign Het
Lax1 A G 1: 133,607,896 (GRCm39) C282R probably benign Het
Lrrd1 A G 5: 3,901,395 (GRCm39) K567E probably benign Het
Luzp1 C T 4: 136,268,124 (GRCm39) R116* probably null Het
Lypd3 G C 7: 24,337,858 (GRCm39) G75R probably damaging Het
Macrod2 A T 2: 140,261,833 (GRCm39) N38I probably damaging Het
Map3k14 A T 11: 103,132,958 (GRCm39) I80N probably damaging Het
Mcm9 A G 10: 53,496,299 (GRCm39) S368P probably benign Het
Mfge8 T C 7: 78,793,049 (GRCm39) D139G probably benign Het
Mmp19 A T 10: 128,627,523 (GRCm39) I54F probably benign Het
Myo15a G T 11: 60,390,320 (GRCm39) W2114L probably damaging Het
Myoc A G 1: 162,466,915 (GRCm39) D28G probably damaging Het
Myrf G T 19: 10,196,924 (GRCm39) N487K probably damaging Het
Omd T A 13: 49,743,710 (GRCm39) F253L probably damaging Het
Or2ag19 G T 7: 106,444,009 (GRCm39) G64* probably null Het
Or5t5 C G 2: 86,616,499 (GRCm39) L142V probably damaging Het
Or6n1 G A 1: 173,917,316 (GRCm39) A237T probably damaging Het
Papss1 T G 3: 131,305,732 (GRCm39) I238S probably damaging Het
Pkhd1 A T 1: 20,632,675 (GRCm39) F580Y probably benign Het
Polk T A 13: 96,653,189 (GRCm39) K70N probably damaging Het
Ppig T A 2: 69,562,755 (GRCm39) D31E probably benign Het
Ppp6r1 G T 7: 4,636,291 (GRCm39) S766R possibly damaging Het
Rab11fip5 T C 6: 85,318,540 (GRCm39) D783G probably benign Het
Reln T C 5: 22,190,855 (GRCm39) I1511V probably benign Het
Rnh1 T C 7: 140,743,096 (GRCm39) N268S probably damaging Het
Rpia A G 6: 70,750,424 (GRCm39) V236A probably benign Het
Rpl10a G T 17: 28,548,424 (GRCm39) V80L probably benign Het
Sap130 T G 18: 31,799,407 (GRCm39) S295A possibly damaging Het
Sgms1 C T 19: 32,120,193 (GRCm39) V238I probably benign Het
Sh3tc1 A G 5: 35,864,778 (GRCm39) S470P probably benign Het
Slc25a32 A G 15: 38,960,984 (GRCm39) V233A possibly damaging Het
Slc2a2 T C 3: 28,771,668 (GRCm39) S158P probably benign Het
Slc6a2 A G 8: 93,722,653 (GRCm39) Y550C probably benign Het
Slc7a9 C A 7: 35,151,936 (GRCm39) T77K probably benign Het
Snd1 A T 6: 28,626,100 (GRCm39) D385V probably benign Het
Ssh3 A T 19: 4,314,448 (GRCm39) F369I probably damaging Het
Syk A G 13: 52,766,495 (GRCm39) probably null Het
Tbc1d16 A G 11: 119,099,742 (GRCm39) S211P probably damaging Het
Ttc3 A G 16: 94,244,312 (GRCm39) T1439A probably benign Het
Usp18 A G 6: 121,229,473 (GRCm39) M31V probably benign Het
Vav1 G T 17: 57,609,330 (GRCm39) E415D possibly damaging Het
Vps13a A T 19: 16,655,439 (GRCm39) V1863D probably benign Het
Xdh T A 17: 74,229,557 (GRCm39) I299F probably damaging Het
Zc3h14 A G 12: 98,737,336 (GRCm39) probably benign Het
Zfp345 G A 2: 150,315,331 (GRCm39) H69Y probably damaging Het
Zfp652 G T 11: 95,654,667 (GRCm39) V357L probably benign Het
Zfp712 A T 13: 67,188,891 (GRCm39) Y545* probably null Het
Zgrf1 T C 3: 127,353,281 (GRCm39) probably null Het
Other mutations in Myo1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Myo1a APN 10 127,556,529 (GRCm39) missense probably benign 0.00
IGL01896:Myo1a APN 10 127,555,773 (GRCm39) missense probably benign
IGL02073:Myo1a APN 10 127,546,094 (GRCm39) missense probably damaging 0.98
IGL02380:Myo1a APN 10 127,550,354 (GRCm39) missense probably benign 0.00
IGL02507:Myo1a APN 10 127,548,478 (GRCm39) missense probably damaging 0.98
R0106:Myo1a UTSW 10 127,555,749 (GRCm39) missense probably benign 0.02
R0326:Myo1a UTSW 10 127,552,166 (GRCm39) missense probably benign 0.00
R0357:Myo1a UTSW 10 127,546,771 (GRCm39) missense probably benign 0.02
R0485:Myo1a UTSW 10 127,555,111 (GRCm39) splice site probably benign
R0676:Myo1a UTSW 10 127,555,749 (GRCm39) missense probably benign 0.02
R0707:Myo1a UTSW 10 127,555,732 (GRCm39) unclassified probably benign
R1241:Myo1a UTSW 10 127,555,148 (GRCm39) missense probably benign 0.00
R1441:Myo1a UTSW 10 127,555,148 (GRCm39) missense probably benign 0.00
R1458:Myo1a UTSW 10 127,555,806 (GRCm39) missense probably benign
R1546:Myo1a UTSW 10 127,548,493 (GRCm39) missense probably damaging 1.00
R1692:Myo1a UTSW 10 127,555,203 (GRCm39) splice site probably null
R1871:Myo1a UTSW 10 127,555,540 (GRCm39) missense probably benign
R2067:Myo1a UTSW 10 127,541,347 (GRCm39) missense probably benign 0.25
R2079:Myo1a UTSW 10 127,556,482 (GRCm39) missense probably benign 0.00
R2151:Myo1a UTSW 10 127,556,050 (GRCm39) missense probably benign 0.18
R2375:Myo1a UTSW 10 127,541,159 (GRCm39) missense probably damaging 1.00
R3014:Myo1a UTSW 10 127,552,214 (GRCm39) missense probably damaging 1.00
R3741:Myo1a UTSW 10 127,550,767 (GRCm39) missense probably benign 0.19
R3812:Myo1a UTSW 10 127,543,284 (GRCm39) missense possibly damaging 0.89
R4303:Myo1a UTSW 10 127,549,602 (GRCm39) missense probably benign 0.10
R4306:Myo1a UTSW 10 127,549,950 (GRCm39) missense probably benign
R4472:Myo1a UTSW 10 127,546,327 (GRCm39) missense probably benign 0.06
R4599:Myo1a UTSW 10 127,556,020 (GRCm39) splice site probably null
R4604:Myo1a UTSW 10 127,547,007 (GRCm39) missense probably damaging 1.00
R4649:Myo1a UTSW 10 127,546,086 (GRCm39) missense probably benign 0.05
R4747:Myo1a UTSW 10 127,550,307 (GRCm39) missense probably damaging 1.00
R4755:Myo1a UTSW 10 127,551,557 (GRCm39) missense probably damaging 1.00
R4972:Myo1a UTSW 10 127,552,178 (GRCm39) missense probably benign 0.31
R5072:Myo1a UTSW 10 127,543,288 (GRCm39) critical splice donor site probably null
R5073:Myo1a UTSW 10 127,543,288 (GRCm39) critical splice donor site probably null
R5074:Myo1a UTSW 10 127,543,288 (GRCm39) critical splice donor site probably null
R5386:Myo1a UTSW 10 127,541,766 (GRCm39) nonsense probably null
R5592:Myo1a UTSW 10 127,549,908 (GRCm39) missense probably damaging 1.00
R5619:Myo1a UTSW 10 127,554,413 (GRCm39) missense probably benign 0.00
R6001:Myo1a UTSW 10 127,542,794 (GRCm39) critical splice donor site probably null
R6374:Myo1a UTSW 10 127,543,549 (GRCm39) missense probably damaging 1.00
R6577:Myo1a UTSW 10 127,551,189 (GRCm39) missense possibly damaging 0.94
R7310:Myo1a UTSW 10 127,541,697 (GRCm39) missense probably damaging 0.98
R7395:Myo1a UTSW 10 127,546,309 (GRCm39) missense probably damaging 0.98
R7429:Myo1a UTSW 10 127,542,716 (GRCm39) missense probably damaging 1.00
R7430:Myo1a UTSW 10 127,542,716 (GRCm39) missense probably damaging 1.00
R8464:Myo1a UTSW 10 127,554,453 (GRCm39) missense probably benign 0.01
R8523:Myo1a UTSW 10 127,547,027 (GRCm39) missense probably damaging 1.00
R8722:Myo1a UTSW 10 127,542,707 (GRCm39) missense probably damaging 1.00
R8803:Myo1a UTSW 10 127,546,856 (GRCm39) missense probably benign 0.19
R8815:Myo1a UTSW 10 127,546,043 (GRCm39) missense probably benign 0.17
R8862:Myo1a UTSW 10 127,548,653 (GRCm39) missense probably benign 0.02
R8913:Myo1a UTSW 10 127,541,710 (GRCm39) missense probably benign 0.06
R8917:Myo1a UTSW 10 127,551,534 (GRCm39) missense possibly damaging 0.88
R9020:Myo1a UTSW 10 127,549,992 (GRCm39) missense probably benign 0.01
R9429:Myo1a UTSW 10 127,543,247 (GRCm39) missense probably damaging 1.00
X0067:Myo1a UTSW 10 127,549,614 (GRCm39) missense probably damaging 1.00
Z1177:Myo1a UTSW 10 127,542,750 (GRCm39) missense possibly damaging 0.69
Z1177:Myo1a UTSW 10 127,542,744 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- CCAAGGTGAACGGTATGGAC -3'
(R):5'- CAGTAGAGTGATCAGCGAGC -3'

Sequencing Primer
(F):5'- AACTTCAGGGCTGTGCAG -3'
(R):5'- TAGAGTGATCAGCGAGCCTCAC -3'
Posted On 2018-11-06