Incidental Mutation 'R0707:Myo1a'
ID 218357
Institutional Source Beutler Lab
Gene Symbol Myo1a
Ensembl Gene ENSMUSG00000025401
Gene Name myosin IA
Synonyms brush border myosin 1, BBM-I, Myhl
MMRRC Submission 038890-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R0707 (G1)
Quality Score 28
Status Validated
Chromosome 10
Chromosomal Location 127541039-127556809 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 127555732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079590] [ENSMUST00000179960]
AlphaFold O88329
Predicted Effect probably benign
Transcript: ENSMUST00000079590
SMART Domains Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401

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 probably benign
Transcript: ENSMUST00000179960
SMART Domains Protein: ENSMUSP00000136622
Gene: ENSMUSG00000025400

DomainStartEndE-ValueType
Pfam:Neurokinin_B 1 54 2.7e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219882
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (74/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 A G 4: 106,617,329 (GRCm39) F259S probably damaging Het
Aldh16a1 T A 7: 44,793,931 (GRCm39) probably benign Het
Ankrd24 A T 10: 81,478,547 (GRCm39) probably benign Het
Arhgap5 T C 12: 52,564,951 (GRCm39) S641P probably damaging Het
Arpp21 A C 9: 111,986,824 (GRCm39) S242R probably benign Het
Bpifb5 A G 2: 154,070,820 (GRCm39) T204A probably benign Het
Bud31 A G 5: 145,083,265 (GRCm39) Y77C probably damaging Het
Ccdc65 G A 15: 98,607,095 (GRCm39) V101I possibly damaging Het
Ccr7 T A 11: 99,036,809 (GRCm39) T38S probably damaging Het
Cdc14a T C 3: 116,087,362 (GRCm39) probably benign Het
Ces2f C T 8: 105,677,618 (GRCm39) H208Y possibly damaging Het
Chst1 C A 2: 92,443,964 (GRCm39) N145K possibly damaging Het
Clock A G 5: 76,374,976 (GRCm39) V731A possibly damaging Het
Cog6 C T 3: 52,921,283 (GRCm39) V108I possibly damaging Het
Cplane1 T A 15: 8,287,805 (GRCm39) N2881K unknown Het
Crtc2 T A 3: 90,170,804 (GRCm39) F626I probably damaging Het
Dicer1 A T 12: 104,673,144 (GRCm39) F792I probably damaging Het
Dnajc13 T C 9: 104,049,781 (GRCm39) K1780R probably benign Het
Dph5 A C 3: 115,708,782 (GRCm39) N155H probably benign Het
Dscam T C 16: 96,626,982 (GRCm39) probably null Het
Etl4 C A 2: 20,810,382 (GRCm39) probably benign Het
Flt3l T C 7: 44,785,450 (GRCm39) S9G probably benign Het
Fmnl2 A G 2: 52,944,498 (GRCm39) E159G possibly damaging Het
Fryl A G 5: 73,240,715 (GRCm39) I1295T probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gatad2b T A 3: 90,263,489 (GRCm39) S529T probably benign Het
Herc6 G A 6: 57,639,347 (GRCm39) G905E possibly damaging Het
Hhip T A 8: 80,724,884 (GRCm39) N296I probably damaging Het
Hmgcr A T 13: 96,787,151 (GRCm39) probably benign Het
Kalrn T G 16: 33,830,951 (GRCm39) N723H possibly damaging Het
Mroh5 T A 15: 73,662,588 (GRCm39) Y242F possibly damaging Het
Msh3 T A 13: 92,483,848 (GRCm39) K258* probably null Het
Nlrp4f C T 13: 65,342,317 (GRCm39) E443K probably benign Het
Nupr2 A G 5: 129,937,533 (GRCm39) Y34C probably damaging Het
Ociad1 T C 5: 73,452,255 (GRCm39) probably benign Het
Or1af1 A T 2: 37,110,208 (GRCm39) K236* probably null Het
Or5af2 T A 11: 58,708,577 (GRCm39) L248M probably damaging Het
Or5b3 A T 19: 13,388,784 (GRCm39) M284L probably benign Het
Or5p5 A G 7: 107,414,331 (GRCm39) D182G probably damaging Het
Or6ae1 T C 7: 139,742,002 (GRCm39) N287S probably damaging Het
P2ry12 C A 3: 59,124,908 (GRCm39) V256F probably damaging Het
Pcdhb22 T A 18: 37,651,904 (GRCm39) I124N probably damaging Het
Pcnt A G 10: 76,256,375 (GRCm39) F622L probably damaging Het
Pfas A T 11: 68,888,863 (GRCm39) N361K probably benign Het
Plod2 T G 9: 92,487,480 (GRCm39) L600V possibly damaging Het
Pole T C 5: 110,446,854 (GRCm39) Y631H probably damaging Het
Proser1 T C 3: 53,386,197 (GRCm39) L693P probably damaging Het
Ptprd A G 4: 75,875,476 (GRCm39) Y1195H probably damaging Het
Rbm27 T A 18: 42,459,091 (GRCm39) probably null Het
Ric8a A G 7: 140,437,886 (GRCm39) probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rimkla C T 4: 119,335,177 (GRCm39) V69M probably damaging Het
Scfd1 A T 12: 51,459,360 (GRCm39) K307M probably damaging Het
Sh2b2 A G 5: 136,261,117 (GRCm39) F33S probably damaging Het
Smg7 T G 1: 152,746,508 (GRCm39) probably null Het
Srebf1 T C 11: 60,094,942 (GRCm39) T486A probably benign Het
Strn3 G A 12: 51,657,187 (GRCm39) T642I probably damaging Het
Syne2 T C 12: 76,028,837 (GRCm39) probably null Het
Syne3 A G 12: 104,935,619 (GRCm39) L53P probably damaging Het
Tcea1 T A 1: 4,950,569 (GRCm39) probably benign Het
Tmem30b T C 12: 73,592,942 (GRCm39) N58D probably benign Het
Tnpo1 A G 13: 98,991,954 (GRCm39) Y641H probably damaging Het
Trim25 A T 11: 88,890,564 (GRCm39) T84S probably benign Het
Trip4 A T 9: 65,746,286 (GRCm39) F537I possibly damaging Het
Uaca G A 9: 60,755,900 (GRCm39) probably benign Het
Ugt2b34 T A 5: 87,040,758 (GRCm39) Y388F possibly damaging Het
Vmn2r71 T C 7: 85,268,640 (GRCm39) V281A probably benign Het
Vps13d A T 4: 144,882,502 (GRCm39) D1030E probably damaging Het
Vps8 C A 16: 21,261,107 (GRCm39) F82L probably damaging Het
Zfp296 A G 7: 19,313,661 (GRCm39) D172G probably benign Het
Zfp977 C A 7: 42,229,958 (GRCm39) C189F 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
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'- TACCAAGCTGTGCCCTCCTTGATG -3'
(R):5'- TCACTCAGATGCAAGCTAAAGAGCC -3'

Sequencing Primer
(F):5'- TGATTACATCGGGCTGCAAG -3'
(R):5'- AGCTAAAGAGCCCGTCCTG -3'
Posted On 2014-08-01