Incidental Mutation 'IGL02507:Myo1a'
ID296398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myo1a
Ensembl Gene ENSMUSG00000025401
Gene Namemyosin IA
Synonymsbrush border myosin 1, BBM-I, Myhl
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL02507
Quality Score
Status
Chromosome10
Chromosomal Location127705170-127720940 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 127712609 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 375 (V375A)
Ref Sequence ENSEMBL: ENSMUSP00000078540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079590]
Predicted Effect probably damaging
Transcript: ENSMUST00000079590
AA Change: V375A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: V375A

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
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T A 11: 103,199,449 Q287L probably damaging Het
Abca13 A G 11: 9,399,388 Y3654C probably damaging Het
Aldh1l2 A C 10: 83,492,584 Y756* probably null Het
Arhgef12 T C 9: 42,992,563 E733G probably damaging Het
Art5 A T 7: 102,099,492 M1K probably null Het
Atp1a2 A T 1: 172,285,771 D448E probably damaging Het
Atp6v1b1 C T 6: 83,756,855 T356I possibly damaging Het
Celsr1 A G 15: 85,900,688 probably benign Het
Cep89 A G 7: 35,435,565 Y686C probably damaging Het
Cgrrf1 T A 14: 46,853,444 Y212* probably null Het
Chrnb1 T C 11: 69,785,090 Y442C probably damaging Het
Clcn1 T C 6: 42,307,073 probably benign Het
Clcn7 G A 17: 25,144,469 V40M probably damaging Het
Cntn1 A G 15: 92,250,979 Y369C possibly damaging Het
Csmd1 T C 8: 17,534,976 probably benign Het
Dpy19l2 A T 9: 24,631,267 C446S probably benign Het
Edem3 G A 1: 151,811,656 E782K probably benign Het
Ephb3 T A 16: 21,220,639 probably benign Het
Fndc4 T C 5: 31,294,746 D109G probably damaging Het
Fras1 T C 5: 96,657,408 V1303A possibly damaging Het
Gcn1l1 T C 5: 115,585,881 L532P probably benign Het
Gm5150 A G 3: 15,963,321 L262P probably damaging Het
Hbb-bs T C 7: 103,827,884 probably benign Het
Krt74 A G 15: 101,760,624 noncoding transcript Het
Nup160 A T 2: 90,729,735 Q1268L probably benign Het
Olfr1155 G A 2: 87,942,918 R237* probably null Het
Olfr1290 G A 2: 111,489,423 T245M possibly damaging Het
Olfr1412 T C 1: 92,588,926 S199P possibly damaging Het
Olfr610 G T 7: 103,506,718 S76* probably null Het
Pan3 T C 5: 147,526,596 S497P probably damaging Het
Pex5 T C 6: 124,413,305 T138A probably benign Het
Pik3ap1 A G 19: 41,282,012 probably benign Het
Ptchd4 A T 17: 42,316,873 H75L possibly damaging Het
Rag2 A T 2: 101,630,710 H455L probably damaging Het
Rergl T A 6: 139,493,353 E159V probably damaging Het
Rrn3 A G 16: 13,788,857 N109S probably benign Het
Scn1a A T 2: 66,277,813 V1523D probably damaging Het
Sec23a A G 12: 59,007,098 V38A probably benign Het
Slc15a2 G A 16: 36,781,659 T92M possibly damaging Het
Slc2a2 A G 3: 28,727,111 T433A probably benign Het
Sptan1 A G 2: 30,016,055 D1671G probably damaging Het
Stab1 A G 14: 31,139,210 probably benign Het
Stau2 A T 1: 16,486,069 I22N possibly damaging Het
Strn3 A T 12: 51,661,627 Y123* probably null Het
Tmem205 A G 9: 21,926,311 V13A possibly damaging Het
Trub1 G A 19: 57,483,577 probably benign Het
Ttn A G 2: 76,738,355 V27398A possibly damaging Het
Vill A G 9: 119,070,777 E343G possibly damaging Het
Zgpat T C 2: 181,366,236 F189L probably damaging Het
Other mutations in Myo1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01529:Myo1a APN 10 127720660 missense probably benign 0.00
IGL01896:Myo1a APN 10 127719904 missense probably benign
IGL02073:Myo1a APN 10 127710225 missense probably damaging 0.98
IGL02380:Myo1a APN 10 127714485 missense probably benign 0.00
R0106:Myo1a UTSW 10 127719880 missense probably benign 0.02
R0326:Myo1a UTSW 10 127716297 missense probably benign 0.00
R0357:Myo1a UTSW 10 127710902 missense probably benign 0.02
R0485:Myo1a UTSW 10 127719242 splice site probably benign
R0676:Myo1a UTSW 10 127719880 missense probably benign 0.02
R0707:Myo1a UTSW 10 127719863 unclassified probably benign
R1241:Myo1a UTSW 10 127719279 missense probably benign 0.00
R1441:Myo1a UTSW 10 127719279 missense probably benign 0.00
R1458:Myo1a UTSW 10 127719937 missense probably benign
R1546:Myo1a UTSW 10 127712624 missense probably damaging 1.00
R1692:Myo1a UTSW 10 127719334 synonymous probably null
R1871:Myo1a UTSW 10 127719671 missense probably benign
R2067:Myo1a UTSW 10 127705478 missense probably benign 0.25
R2079:Myo1a UTSW 10 127720613 missense probably benign 0.00
R2151:Myo1a UTSW 10 127720181 missense probably benign 0.18
R2375:Myo1a UTSW 10 127705290 missense probably damaging 1.00
R3014:Myo1a UTSW 10 127716345 missense probably damaging 1.00
R3741:Myo1a UTSW 10 127714898 missense probably benign 0.19
R3812:Myo1a UTSW 10 127707415 missense possibly damaging 0.89
R4303:Myo1a UTSW 10 127713733 missense probably benign 0.10
R4306:Myo1a UTSW 10 127714081 missense probably benign
R4472:Myo1a UTSW 10 127710458 missense probably benign 0.06
R4599:Myo1a UTSW 10 127720151 unclassified probably null
R4604:Myo1a UTSW 10 127711138 missense probably damaging 1.00
R4649:Myo1a UTSW 10 127710217 missense probably benign 0.05
R4747:Myo1a UTSW 10 127714438 missense probably damaging 1.00
R4755:Myo1a UTSW 10 127715688 missense probably damaging 1.00
R4972:Myo1a UTSW 10 127716309 missense probably benign 0.31
R5072:Myo1a UTSW 10 127707419 critical splice donor site probably null
R5073:Myo1a UTSW 10 127707419 critical splice donor site probably null
R5074:Myo1a UTSW 10 127707419 critical splice donor site probably null
R5386:Myo1a UTSW 10 127705897 nonsense probably null
R5592:Myo1a UTSW 10 127714039 missense probably damaging 1.00
R5619:Myo1a UTSW 10 127718544 missense probably benign 0.00
R6001:Myo1a UTSW 10 127706925 critical splice donor site probably null
R6374:Myo1a UTSW 10 127707680 missense probably damaging 1.00
R6577:Myo1a UTSW 10 127715320 missense possibly damaging 0.94
R6932:Myo1a UTSW 10 127710458 missense probably benign 0.06
R7310:Myo1a UTSW 10 127705828 missense probably damaging 0.98
R7395:Myo1a UTSW 10 127710440 missense probably damaging 0.98
X0067:Myo1a UTSW 10 127713745 missense probably damaging 1.00
Posted On2015-04-16