Incidental Mutation 'R8722:Myo1a'
ID 662175
Institutional Source Beutler Lab
Gene Symbol Myo1a
Ensembl Gene ENSMUSG00000025401
Gene Name myosin IA
Synonyms brush border myosin 1, BBM-I, Myhl
MMRRC Submission 068572-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R8722 (G1)
Quality Score 219.009
Status Validated
Chromosome 10
Chromosomal Location 127541039-127556809 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127542707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 115 (M115T)
Ref Sequence ENSEMBL: ENSMUSP00000078540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079590]
AlphaFold O88329
Predicted Effect probably damaging
Transcript: ENSMUST00000079590
AA Change: M115T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: M115T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.8%
Validation Efficiency 100% (54/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A G 2: 103,823,101 (GRCm39) C61R probably benign Het
4933427D14Rik A G 11: 72,080,422 (GRCm39) F415L probably benign Het
Abcc2 G A 19: 43,825,052 (GRCm39) G1446D possibly damaging Het
Acaca A T 11: 84,229,283 (GRCm39) E1703D possibly damaging Het
Acap3 T C 4: 155,990,415 (GRCm39) *834Q probably null Het
Adam22 A G 5: 8,166,554 (GRCm39) S726P probably benign Het
Adamtsl3 T C 7: 82,244,745 (GRCm39) probably null Het
Adgrg6 T A 10: 14,296,188 (GRCm39) I1071F probably benign Het
Agxt2 A T 15: 10,373,825 (GRCm39) D77V probably benign Het
Ahnak C A 19: 8,990,710 (GRCm39) S3998* probably null Het
Asns T A 6: 7,676,085 (GRCm39) I462F probably damaging Het
Barx2 G C 9: 31,824,280 (GRCm39) C36W probably damaging Het
Bnc2 A G 4: 84,211,883 (GRCm39) V162A possibly damaging Het
Bptf A G 11: 107,022,295 (GRCm39) S152P unknown Het
Brpf3 T C 17: 29,029,510 (GRCm39) L490P probably benign Het
Carmil1 T C 13: 24,220,568 (GRCm39) D1052G probably benign Het
Ccn1 T A 3: 145,354,584 (GRCm39) N109I probably damaging Het
Cdk17 A G 10: 93,064,565 (GRCm39) H311R probably damaging Het
Cenpj G A 14: 56,772,975 (GRCm39) R1022C probably damaging Het
Cog5 A G 12: 31,969,703 (GRCm39) D741G possibly damaging Het
Csmd2 T A 4: 128,445,743 (GRCm39) probably benign Het
Dnah17 G A 11: 117,961,283 (GRCm39) Q2568* probably null Het
Dspp A G 5: 104,326,433 (GRCm39) D932G unknown Het
Dtwd2 T C 18: 49,833,385 (GRCm39) T223A probably damaging Het
Fzd8 A G 18: 9,213,686 (GRCm39) N256S possibly damaging Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,497,379 (GRCm39) probably benign Het
Gm9936 T C 5: 114,995,515 (GRCm39) Y34C unknown Het
Gstcd T A 3: 132,777,822 (GRCm39) K330* probably null Het
Igf2bp1 A G 11: 95,861,606 (GRCm39) V277A possibly damaging Het
Kidins220 G A 12: 25,051,593 (GRCm39) V332I probably benign Het
Kif24 T C 4: 41,394,233 (GRCm39) H1014R probably benign Het
Lrrc43 T C 5: 123,646,142 (GRCm39) Y639H possibly damaging Het
Med22 T C 2: 26,800,313 (GRCm39) T39A probably benign Het
Morn3 T C 5: 123,179,177 (GRCm39) Y91C probably damaging Het
Or10w3 T C 19: 13,704,033 (GRCm39) M136T possibly damaging Het
Or1e32 T A 11: 73,705,882 (GRCm39) I9F probably benign Het
Or52n2b C T 7: 104,565,708 (GRCm39) R265H probably benign Het
Pdcl T C 2: 37,247,317 (GRCm39) D24G probably benign Het
Pde10a G A 17: 9,163,772 (GRCm39) C250Y probably benign Het
Pla2g10 A T 16: 13,548,254 (GRCm39) L8M unknown Het
Plch2 A T 4: 155,069,860 (GRCm39) probably benign Het
Ppp1r42 T C 1: 10,055,894 (GRCm39) K198R probably benign Het
Prlh G T 1: 90,880,897 (GRCm39) R23L possibly damaging Het
Ranbp2 C A 10: 58,312,049 (GRCm39) T923K probably damaging Het
Rps11 T C 7: 44,772,616 (GRCm39) N65S probably benign Het
Ryr3 T C 2: 112,603,116 (GRCm39) T2463A probably benign Het
Shank2 C T 7: 143,729,485 (GRCm39) probably benign Het
Slc12a1 T A 2: 125,002,518 (GRCm39) V166E probably damaging Het
Slc6a9 C T 4: 117,714,452 (GRCm39) R97C unknown Het
Slpi A C 2: 164,197,975 (GRCm39) M1R probably null Het
Syne2 T A 12: 75,972,095 (GRCm39) V994D probably benign Het
Tacc3 T C 5: 33,825,553 (GRCm39) Y435H probably damaging Het
Tpgs2 T A 18: 25,274,679 (GRCm39) Q132L probably benign Het
Usp13 T A 3: 32,956,114 (GRCm39) I462N probably benign Het
Zfp281 C T 1: 136,553,334 (GRCm39) A104V probably benign Het
Zfp40 A G 17: 23,395,157 (GRCm39) C477R probably damaging 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
R6932:Myo1a UTSW 10 127,546,327 (GRCm39) missense probably benign 0.06
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
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'- GTTCTTAACCACTCCAGCCCAG -3'
(R):5'- AGTCTGCTGACCAATGGTAGC -3'

Sequencing Primer
(F):5'- ATGTGGTGTCAGAGCTAAATGG -3'
(R):5'- CTGACCAATGGTAGCTTTTATGC -3'
Posted On 2021-03-08