Incidental Mutation 'R2067:Myo1a'
ID 226776
Institutional Source Beutler Lab
Gene Symbol Myo1a
Ensembl Gene ENSMUSG00000025401
Gene Name myosin IA
Synonyms brush border myosin 1, BBM-I, Myhl
MMRRC Submission 040072-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R2067 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127541039-127556809 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127541347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 43 (N43D)
Ref Sequence ENSEMBL: ENSMUSP00000078540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048099] [ENSMUST00000079590]
AlphaFold O88329
Predicted Effect probably benign
Transcript: ENSMUST00000048099
SMART Domains Protein: ENSMUSP00000045988
Gene: ENSMUSG00000040195

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:DUF2215 150 396 1.2e-94 PFAM
low complexity region 416 426 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079590
AA Change: N43D

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: N43D

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 0.1798 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (76/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T A 4: 122,583,115 (GRCm39) probably benign Het
Abca2 A T 2: 25,327,517 (GRCm39) I669F possibly damaging Het
Acin1 T A 14: 54,902,711 (GRCm39) Q360H probably damaging Het
Aldh3b1 T A 19: 3,971,755 (GRCm39) D72V probably benign Het
Alox12e G A 11: 70,206,828 (GRCm39) R620W probably damaging Het
Alpl T C 4: 137,476,856 (GRCm39) probably benign Het
Amy2a1 T C 3: 113,324,217 (GRCm39) I108V probably benign Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Bod1l G A 5: 41,974,429 (GRCm39) T2295M probably benign Het
Ccdc9 A T 7: 16,012,475 (GRCm39) probably null Het
Clptm1l C T 13: 73,755,842 (GRCm39) Q153* probably null Het
Csmd1 A G 8: 15,950,782 (GRCm39) S3476P probably benign Het
Ddias A T 7: 92,508,907 (GRCm39) M336K possibly damaging Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Epha1 G T 6: 42,342,987 (GRCm39) H187Q probably benign Het
Espl1 T C 15: 102,207,525 (GRCm39) S330P probably damaging Het
Fbln7 G T 2: 128,719,386 (GRCm39) R61L probably damaging Het
Fbxo41 C T 6: 85,455,453 (GRCm39) W577* probably null Het
Fgb C A 3: 82,956,996 (GRCm39) D25Y probably benign Het
Gc T A 5: 89,594,376 (GRCm39) K37N probably damaging Het
Gfpt1 T C 6: 87,034,736 (GRCm39) I178T probably benign Het
Gm12695 T C 4: 96,657,963 (GRCm39) T69A probably benign Het
Gm3944 C A 12: 18,903,895 (GRCm39) S8* probably null Het
Gm9912 T C 3: 148,890,795 (GRCm39) T113A unknown Het
Gpr156 A G 16: 37,799,113 (GRCm39) D109G probably benign Het
Hoxd1 A T 2: 74,593,710 (GRCm39) T89S probably benign Het
Htt C T 5: 34,983,326 (GRCm39) T975I probably benign Het
Itpr3 G A 17: 27,317,050 (GRCm39) M768I probably benign Het
Krt4 C A 15: 101,833,099 (GRCm39) A3S possibly damaging Het
Mrto4 T C 4: 139,076,334 (GRCm39) K86E probably benign Het
Mup4 T A 4: 59,960,622 (GRCm39) probably benign Het
Myh1 G A 11: 67,105,446 (GRCm39) D1079N possibly damaging Het
Napa A T 7: 15,849,203 (GRCm39) probably benign Het
Ndufa12 A G 10: 94,056,569 (GRCm39) D99G probably damaging Het
Neb A G 2: 52,174,275 (GRCm39) I1528T probably benign Het
Nek1 T C 8: 61,460,196 (GRCm39) S41P probably damaging Het
Nolc1 C T 19: 46,072,046 (GRCm39) T612M probably damaging Het
Nsun5 T G 5: 135,403,926 (GRCm39) Y301D probably damaging Het
Oas1g T C 5: 121,023,946 (GRCm39) E121G probably damaging Het
Or1e1f A G 11: 73,855,740 (GRCm39) Y102C probably damaging Het
Or2ab1 A G 11: 58,488,396 (GRCm39) N58S probably damaging Het
Or5d41 A G 2: 88,054,818 (GRCm39) V186A possibly damaging Het
Or6ae1 T A 7: 139,742,822 (GRCm39) I14F possibly damaging Het
Or8b46 T A 9: 38,450,576 (GRCm39) N128K probably benign Het
Or8k38 G T 2: 86,488,781 (GRCm39) T7K probably damaging Het
Osmr T C 15: 6,844,896 (GRCm39) N957D probably benign Het
Parn G A 16: 13,420,933 (GRCm39) S473L probably damaging Het
Phc2 T C 4: 128,640,929 (GRCm39) F672S probably damaging Het
Pik3c2b T C 1: 133,027,349 (GRCm39) S1283P probably damaging Het
Pole2 G A 12: 69,274,926 (GRCm39) R5W probably benign Het
Prl7a2 T A 13: 27,844,870 (GRCm39) Y172F probably damaging Het
Ptprz1 A G 6: 23,050,388 (GRCm39) probably benign Het
Rapgef3 C A 15: 97,664,842 (GRCm39) G7V probably damaging Het
Ripor1 T A 8: 106,344,340 (GRCm39) S491R probably benign Het
Rnf141 A G 7: 110,420,572 (GRCm39) probably benign Het
Ryr3 C T 2: 112,777,302 (GRCm39) R285Q probably damaging Het
Sall4 T C 2: 168,598,465 (GRCm39) N125S probably benign Het
Schip1 A G 3: 68,525,119 (GRCm39) K360R probably damaging Het
Senp6 T A 9: 79,997,151 (GRCm39) V55E probably benign Het
Skint1 T A 4: 111,882,730 (GRCm39) V258D probably benign Het
Slc25a16 T A 10: 62,768,530 (GRCm39) H130Q probably benign Het
Styx T C 14: 45,611,020 (GRCm39) V217A probably benign Het
Syne2 G A 12: 75,935,116 (GRCm39) probably null Het
Tagap1 A G 17: 7,224,259 (GRCm39) S146P probably benign Het
Tatdn2 A G 6: 113,681,103 (GRCm39) K379E probably benign Het
Thrap3 T C 4: 126,069,189 (GRCm39) Y654C possibly damaging Het
Tle2 T C 10: 81,416,385 (GRCm39) L135P probably damaging Het
Tmc1 A G 19: 20,801,673 (GRCm39) F451S possibly damaging Het
Trpm7 G A 2: 126,639,647 (GRCm39) P1650S probably damaging Het
Ttll4 G A 1: 74,719,541 (GRCm39) R16H possibly damaging Het
Ttn T C 2: 76,544,717 (GRCm39) N32795S probably damaging Het
Tubgcp6 T C 15: 88,988,692 (GRCm39) E803G probably benign Het
Ubr2 A G 17: 47,274,071 (GRCm39) probably null Het
Ugt2b35 A G 5: 87,149,412 (GRCm39) D221G probably damaging Het
Unc45b G A 11: 82,802,515 (GRCm39) A4T probably benign Het
Vmn1r70 A T 7: 10,368,264 (GRCm39) I251F possibly damaging Het
Vmn2r120 T A 17: 57,831,553 (GRCm39) H412L possibly damaging Het
Zfp59 A G 7: 27,552,935 (GRCm39) N129S probably benign Het
Zgrf1 T C 3: 127,406,999 (GRCm39) C1589R 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
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'- AAGACCTCATCCTCCTGGAG -3'
(R):5'- TCTAGGAAGGATTCTCAGGGG -3'

Sequencing Primer
(F):5'- ATCCTCCTGGAGCCCCTAGATG -3'
(R):5'- AGCTCCTTTGGGGAAAGACC -3'
Posted On 2014-09-17