Incidental Mutation 'R0326:Myo1a'
ID 65069
Institutional Source Beutler Lab
Gene Symbol Myo1a
Ensembl Gene ENSMUSG00000025401
Gene Name myosin IA
Synonyms brush border myosin 1, BBM-I, Myhl
MMRRC Submission 038536-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R0326 (G1)
Quality Score 102
Status Not validated
Chromosome 10
Chromosomal Location 127541039-127556809 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127552166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 762 (N762D)
Ref Sequence ENSEMBL: ENSMUSP00000078540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079590]
AlphaFold O88329
Predicted Effect probably benign
Transcript: ENSMUST00000079590
AA Change: N762D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: N762D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219882
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.8%
  • 20x: 91.8%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,670,635 (GRCm39) P286S possibly damaging Het
Aagab T A 9: 63,526,444 (GRCm39) S156T probably damaging Het
Abca14 T G 7: 119,823,642 (GRCm39) Y390D probably damaging Het
Abcc2 T A 19: 43,814,386 (GRCm39) I1122N possibly damaging Het
Adamts16 T C 13: 70,927,730 (GRCm39) E503G possibly damaging Het
Adamts9 A T 6: 92,835,038 (GRCm39) C697* probably null Het
Adgrv1 T C 13: 81,623,112 (GRCm39) D3837G possibly damaging Het
Ahcyl T A 16: 45,974,246 (GRCm39) D377V probably benign Het
Aire T A 10: 77,878,433 (GRCm39) R128S probably damaging Het
Alkbh2 A C 5: 114,262,011 (GRCm39) *240E probably null Het
Als2 T C 1: 59,219,742 (GRCm39) Y1191C probably damaging Het
Anapc5 A T 5: 122,952,667 (GRCm39) V186E probably benign Het
Apob C T 12: 8,040,307 (GRCm39) A548V probably damaging Het
B3galt4 A T 17: 34,169,722 (GRCm39) V172E probably damaging Het
Bbs7 A C 3: 36,646,525 (GRCm39) C432G possibly damaging Het
Cacna2d3 T A 14: 28,767,601 (GRCm39) E758V probably damaging Het
Cactin T G 10: 81,158,496 (GRCm39) L154R probably benign Het
Ccdc88a A C 11: 29,411,021 (GRCm39) R502S probably benign Het
Ccnf A T 17: 24,450,784 (GRCm39) I398N possibly damaging Het
Chd1 A T 17: 15,988,828 (GRCm39) D1527V probably damaging Het
Chd1 A T 17: 15,988,830 (GRCm39) M1528L probably benign Het
Chrac1 G A 15: 72,964,675 (GRCm39) probably null Het
Cln3 T G 7: 126,182,217 (GRCm39) M1L probably damaging Het
Cnot6 T C 11: 49,568,263 (GRCm39) Y442C probably damaging Het
Col19a1 A T 1: 24,324,132 (GRCm39) probably null Het
Col1a2 T C 6: 4,537,838 (GRCm39) F1116L unknown Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cops4 T G 5: 100,676,408 (GRCm39) V53G probably damaging Het
Crnkl1 A G 2: 145,761,875 (GRCm39) S561P probably benign Het
Ctnnb1 C A 9: 120,780,778 (GRCm39) Q99K probably benign Het
Cxcr5 T C 9: 44,424,578 (GRCm39) S360G probably benign Het
Dab2 G A 15: 6,447,797 (GRCm39) V60M probably damaging Het
Ddx3y A T Y: 1,263,321 (GRCm39) Y648* probably null Het
Dennd2a T A 6: 39,474,044 (GRCm39) D430V probably damaging Het
Dsp G T 13: 38,376,846 (GRCm39) E1544* probably null Het
Efcab7 A T 4: 99,719,631 (GRCm39) M38L possibly damaging Het
Fto A G 8: 92,136,155 (GRCm39) N141S probably damaging Het
Gabrp A G 11: 33,504,362 (GRCm39) F318L probably damaging Het
Gmeb1 A C 4: 131,969,663 (GRCm39) C103W probably damaging Het
Heatr9 T C 11: 83,405,365 (GRCm39) D365G probably damaging Het
Hif3a G A 7: 16,778,325 (GRCm39) R436W probably benign Het
Hint2 A G 4: 43,654,378 (GRCm39) V145A probably damaging Het
Hmcn2 T A 2: 31,313,237 (GRCm39) L3482* probably null Het
Hsd3b1 A T 3: 98,760,590 (GRCm39) Y134N probably damaging Het
Impg2 T A 16: 56,080,848 (GRCm39) V775E probably damaging Het
Ipo5 A G 14: 121,159,635 (GRCm39) I154M probably benign Het
Itgad T A 7: 127,797,550 (GRCm39) F893Y probably benign Het
Itprid1 A T 6: 55,875,228 (GRCm39) M393L possibly damaging Het
Kdm4a T C 4: 118,018,903 (GRCm39) R438G probably benign Het
Klk1b11 T A 7: 43,425,943 (GRCm39) M1K probably null Het
Lama5 A T 2: 179,824,219 (GRCm39) V2602D possibly damaging Het
Lrch3 T C 16: 32,799,870 (GRCm39) S35P probably damaging Het
Mfn2 A G 4: 147,967,745 (GRCm39) L441P probably damaging Het
Mgat4c A T 10: 102,224,565 (GRCm39) I260F probably damaging Het
Mon1b T A 8: 114,364,375 (GRCm39) S51T probably benign Het
Myh11 T C 16: 14,036,744 (GRCm39) D993G probably benign Het
Nacc2 A T 2: 25,950,345 (GRCm39) Y464N probably damaging Het
Nckap1 A G 2: 80,383,714 (GRCm39) I150T probably benign Het
Ndufv2 G T 17: 66,387,816 (GRCm39) P119T probably damaging Het
Noc4l G A 5: 110,800,241 (GRCm39) R95* probably null Het
Ntng1 A T 3: 110,042,819 (GRCm39) Y2* probably null Het
Oog4 T C 4: 143,165,773 (GRCm39) N53D probably benign Het
Or10ak11 A T 4: 118,687,022 (GRCm39) V205D possibly damaging Het
Or4d11 C T 19: 12,013,525 (GRCm39) V194I probably benign Het
Or6c6c A G 10: 129,541,638 (GRCm39) E297G possibly damaging Het
Or9i1b C T 19: 13,896,873 (GRCm39) T163I probably benign Het
Phkg2 T G 7: 127,173,075 (GRCm39) L11R probably damaging Het
Pogz A G 3: 94,777,424 (GRCm39) D368G probably damaging Het
Prex2 T A 1: 11,355,289 (GRCm39) L1530Q probably damaging Het
Prmt1 C T 7: 44,628,878 (GRCm39) E144K probably damaging Het
Prss8 T A 7: 127,526,348 (GRCm39) I121F probably benign Het
Psmd13 T C 7: 140,477,624 (GRCm39) L314P probably damaging Het
Ptch2 G A 4: 116,966,081 (GRCm39) G467D probably damaging Het
Rbm20 C A 19: 53,852,596 (GRCm39) P1192Q probably damaging Het
Rpl19 T A 11: 97,919,200 (GRCm39) D45E probably benign Het
Rsph10b C T 5: 143,903,946 (GRCm39) A219V probably damaging Het
Rtraf C T 14: 19,864,600 (GRCm39) probably null Het
Scaf1 T A 7: 44,658,175 (GRCm39) T235S probably damaging Het
Shank1 T A 7: 43,968,594 (GRCm39) C296S unknown Het
Slc39a7 A T 17: 34,247,924 (GRCm39) V426D probably damaging Het
Slc41a2 A T 10: 83,119,610 (GRCm39) V384D probably damaging Het
Slco1c1 T C 6: 141,505,499 (GRCm39) L475P probably benign Het
Slco6d1 A C 1: 98,418,359 (GRCm39) K515T probably benign Het
Sos2 T C 12: 69,682,459 (GRCm39) E253G probably damaging Het
Sp6 G T 11: 96,912,361 (GRCm39) D25Y possibly damaging Het
Syt11 A C 3: 88,669,855 (GRCm39) D12E possibly damaging Het
Taf2 A G 15: 54,910,856 (GRCm39) L606P probably damaging Het
Tbc1d5 A G 17: 51,273,764 (GRCm39) Y116H probably damaging Het
Tnfrsf8 A G 4: 145,015,029 (GRCm39) I243T possibly damaging Het
Tnxb A G 17: 34,917,153 (GRCm39) S2183G probably benign Het
Trim66 T C 7: 109,059,379 (GRCm39) Y853C probably benign Het
Ttn T A 2: 76,567,839 (GRCm39) T27685S probably damaging Het
Ttn T C 2: 76,573,466 (GRCm39) E25809G probably damaging Het
Uvssa G A 5: 33,566,191 (GRCm39) G445S probably benign Het
Zfp326 T C 5: 106,058,141 (GRCm39) S427P probably damaging Het
Zfp592 A G 7: 80,674,637 (GRCm39) T534A possibly damaging Het
Zfp672 A G 11: 58,207,173 (GRCm39) S383P possibly damaging Het
Zfp799 A G 17: 33,039,700 (GRCm39) S188P possibly damaging Het
Zyg11b A C 4: 108,129,450 (GRCm39) V54G possibly 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
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
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'- TGGGCGGCTTCATATCGTTTCC -3'
(R):5'- ACAGACAGCATCTCCCTGAGCTAAG -3'

Sequencing Primer
(F):5'- ATCGTTTCCCAGTTATAATCTCAGC -3'
(R):5'- accccaccccccttctc -3'
Posted On 2013-08-08