Mutagenetix > Incidental Mutation

Incidental Mutation 'R4604:Myo1a'

345906

Institutional Source

Beutler Lab

Gene Symbol

Myo1a

Ensembl Gene

ENSMUSG00000025401

Gene Name

myosin IA

Synonyms

brush border myosin 1, BBM-I, Myhl

MMRRC Submission

041816-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R4604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127541039-127556809 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127547007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 356 (W356R)

Ref Sequence

ENSEMBL: ENSMUSP00000078540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079590]

AlphaFold

O88329

Predicted Effect

probably damaging
Transcript: ENSMUST00000079590
AA Change: W356R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: W356R

Domain	Start	End	E-Value	Type
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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	C	T	2: 156,699,074 (GRCm39)		probably benign	Het
Abcb6	G	A	1: 75,156,521 (GRCm39)	T81I	probably benign	Het
Acp6	A	G	3: 97,083,075 (GRCm39)	K362R	probably benign	Het
Adam26a	A	G	8: 44,023,088 (GRCm39)	M134T	probably benign	Het
Ankrd27	C	T	7: 35,327,915 (GRCm39)	P812S	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp2a1	G	A	7: 126,047,795 (GRCm39)	R672C	probably damaging	Het
Atxn2	G	T	5: 121,919,406 (GRCm39)	W371C	probably damaging	Het
B3gnt2	T	TTCACAAA	11: 22,786,426 (GRCm39)		probably null	Het
Btnl6	T	A	17: 34,727,435 (GRCm39)	D365V	possibly damaging	Het
Ccdc80	T	A	16: 44,915,928 (GRCm39)	L228Q	probably damaging	Het
Cdc42bpa	A	G	1: 179,936,759 (GRCm39)	H718R	probably benign	Het
Cdh18	A	G	15: 23,474,454 (GRCm39)	K775E	probably benign	Het
Cdh23	T	G	10: 60,173,445 (GRCm39)	N1679T	possibly damaging	Het
Cep192	T	A	18: 67,948,993 (GRCm39)	D271E	possibly damaging	Het
Cfap70	G	T	14: 20,493,729 (GRCm39)	T124K	probably benign	Het
Ckap5	A	T	2: 91,408,476 (GRCm39)	E890D	probably benign	Het
Col22a1	G	T	15: 71,824,188 (GRCm39)	P569T	probably benign	Het
Colq	A	T	14: 31,267,060 (GRCm39)	L150Q	possibly damaging	Het
Csf1	T	C	3: 107,664,278 (GRCm39)		probably null	Het
Csmd3	A	T	15: 47,868,211 (GRCm39)	S770T	possibly damaging	Het
Cul9	C	A	17: 46,841,072 (GRCm39)	V733L	probably damaging	Het
Cyp2c55	A	G	19: 39,019,830 (GRCm39)	D256G	possibly damaging	Het
Dclk3	A	T	9: 111,298,253 (GRCm39)	D599V	probably damaging	Het
Defb26	T	A	2: 152,350,104 (GRCm39)	I59F	possibly damaging	Het
Dnah6	A	G	6: 73,106,643 (GRCm39)	V1646A	possibly damaging	Het
Dnm2	T	C	9: 21,415,960 (GRCm39)		probably null	Het
Dock6	A	G	9: 21,713,836 (GRCm39)	L1867P	probably damaging	Het
Dock9	G	T	14: 121,905,871 (GRCm39)	T93K	probably damaging	Het
Dync2h1	T	C	9: 7,140,995 (GRCm39)	H1344R	probably benign	Het
Enam	A	C	5: 88,652,142 (GRCm39)	Q1217P	possibly damaging	Het
Fbf1	A	T	11: 116,049,748 (GRCm39)	D91E	possibly damaging	Het
Fbxo7	T	G	10: 85,882,666 (GRCm39)	W393G	probably damaging	Het
Gab2	A	G	7: 96,953,420 (GRCm39)	T599A	probably damaging	Het
Gfy	T	A	7: 44,826,612 (GRCm39)	I409F	possibly damaging	Het
Gm19345	T	A	7: 19,591,433 (GRCm39)		probably null	Het
Gm4787	A	G	12: 81,425,987 (GRCm39)	M57T	probably benign	Het
Gper1	A	G	5: 139,412,480 (GRCm39)	E275G	probably damaging	Het
Grik4	T	C	9: 42,435,882 (GRCm39)	E803G	probably damaging	Het
Gstm3	G	A	3: 107,875,513 (GRCm39)	P39L	possibly damaging	Het
Hax1	A	T	3: 89,904,767 (GRCm39)	V142D	probably damaging	Het
Hcn3	A	T	3: 89,057,747 (GRCm39)	I383N	probably damaging	Het
Hdac10	C	A	15: 89,009,600 (GRCm39)		probably null	Het
Hipk3	A	C	2: 104,269,674 (GRCm39)	M505R	probably damaging	Het
Hivep1	C	T	13: 42,313,225 (GRCm39)	P1822S	probably benign	Het
Hsd17b13	G	T	5: 104,104,124 (GRCm39)	H281N	unknown	Het
Ilrun	T	C	17: 28,039,289 (GRCm39)	D7G	probably damaging	Het
Irak2	T	A	6: 113,649,848 (GRCm39)	I222N	probably damaging	Het
Kalrn	G	A	16: 34,334,296 (GRCm39)	L7F	possibly damaging	Het
Kcnma1	A	G	14: 23,359,106 (GRCm39)		probably null	Het
Kcnn3	G	T	3: 89,427,727 (GRCm39)		probably benign	Het
Lamb1	A	C	12: 31,328,775 (GRCm39)	D218A	probably damaging	Het
Lrrtm1	A	T	6: 77,221,127 (GRCm39)	N195Y	probably damaging	Het
Ltf	A	T	9: 110,851,409 (GRCm39)	N72I	probably damaging	Het
Mcm4	A	G	16: 15,447,527 (GRCm39)	I479T	probably damaging	Het
Mfhas1	T	C	8: 36,055,764 (GRCm39)	S80P	probably benign	Het
Mknk1	A	G	4: 115,735,224 (GRCm39)	E364G	probably damaging	Het
Msh4	C	T	3: 153,577,920 (GRCm39)	C458Y	probably damaging	Het
Mtrr	A	T	13: 68,712,631 (GRCm39)		probably null	Het
Nbea	A	G	3: 55,631,069 (GRCm39)	V2186A	probably benign	Het
Nfe2l3	T	C	6: 51,427,992 (GRCm39)	S185P	probably damaging	Het
Nhsl1	A	C	10: 18,407,158 (GRCm39)	K1397Q	probably damaging	Het
Nmbr	C	T	10: 14,645,908 (GRCm39)	R261W	probably damaging	Het
Npy2r	A	G	3: 82,448,365 (GRCm39)	S137P	probably damaging	Het
Obscn	C	T	11: 58,971,031 (GRCm39)	G2494D	probably damaging	Het
Obscn	T	C	11: 59,013,572 (GRCm39)	K1092E	probably damaging	Het
Oosp2	A	C	19: 11,627,047 (GRCm39)	I92S	probably benign	Het
Or5ar1	C	T	2: 85,671,526 (GRCm39)	C203Y	probably damaging	Het
Pcdh9	T	C	14: 94,124,616 (GRCm39)	D518G	probably damaging	Het
Pde11a	G	T	2: 76,168,137 (GRCm39)	T272K	possibly damaging	Het
Plekha2	T	A	8: 25,549,851 (GRCm39)	Q162L	probably null	Het
Prkag2	T	A	5: 25,083,732 (GRCm39)	I84F	probably damaging	Het
Prm2	G	T	16: 10,609,613 (GRCm39)		probably benign	Het
Prpf40a	A	T	2: 53,032,035 (GRCm39)	C800S	probably damaging	Het
Prr5l	A	T	2: 101,559,793 (GRCm39)	C158S	probably benign	Het
Prrt3	C	A	6: 113,475,198 (GRCm39)	C8F	possibly damaging	Het
Psg25	T	C	7: 18,263,728 (GRCm39)	T32A	probably benign	Het
Ruvbl1	T	C	6: 88,462,887 (GRCm39)	V337A	probably benign	Het
Sall1	T	A	8: 89,756,969 (GRCm39)	Q1045L	probably damaging	Het
Sec22c	T	C	9: 121,524,708 (GRCm39)	Y25C	probably damaging	Het
Serpina3i	A	T	12: 104,234,036 (GRCm39)	T335S	possibly damaging	Het
Setd1b	TCCACCACCACCACCACCACCACCA	TCCACCACCACCACCACCACCA	5: 123,290,137 (GRCm39)		probably benign	Het
Slc12a8	T	A	16: 33,428,529 (GRCm39)	I279N	probably damaging	Het
Slc15a1	G	A	14: 121,727,319 (GRCm39)	T83I	probably damaging	Het
Slc22a3	A	G	17: 12,678,658 (GRCm39)	F222S	probably benign	Het
Sorcs3	A	T	19: 48,682,353 (GRCm39)	T463S	probably benign	Het
Spsb4	C	A	9: 96,877,931 (GRCm39)	A131S	probably benign	Het
Sting1	T	A	18: 35,871,743 (GRCm39)	I170F	probably damaging	Het
Syne2	A	G	12: 76,014,484 (GRCm39)	E3225G	probably damaging	Het
Tchp	G	A	5: 114,857,634 (GRCm39)		probably null	Het
Tekt4	T	A	17: 25,690,749 (GRCm39)	D18E	probably benign	Het
Timm50	A	G	7: 28,010,443 (GRCm39)	V37A	probably benign	Het
Tlx2	A	C	6: 83,045,741 (GRCm39)	*285G	probably null	Het
Tshz1	C	A	18: 84,031,499 (GRCm39)	D970Y	probably damaging	Het
Ttn	A	T	2: 76,700,805 (GRCm39)	V50E	probably damaging	Het
Txndc17	T	A	11: 72,100,274 (GRCm39)	S113T	probably benign	Het
Tyk2	T	C	9: 21,019,305 (GRCm39)	Y1039C	probably damaging	Het
Ubqln3	A	G	7: 103,791,698 (GRCm39)	S131P	probably benign	Het
Uncx	A	T	5: 139,529,837 (GRCm39)	H30L	possibly damaging	Het
Usp25	T	A	16: 76,912,303 (GRCm39)	D1007E	probably damaging	Het
Usp47	T	C	7: 111,701,038 (GRCm39)	V1083A	probably damaging	Het
Wdr24	T	A	17: 26,047,479 (GRCm39)	H765Q	probably damaging	Het
Wrnip1	A	G	13: 32,986,330 (GRCm39)	D37G	probably damaging	Het
Xpo6	T	C	7: 125,712,924 (GRCm39)	T686A	possibly damaging	Het
Zfp941	G	A	7: 140,392,124 (GRCm39)	R412C	probably damaging	Het
Znrf2	T	A	6: 54,855,425 (GRCm39)	C71*	probably null	Het

Other mutations in Myo1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGGGCTTGAACTCTACGGAAC -3'
(R):5'- AGAGACTCGAACTCCTAGAAGG -3'

Sequencing Primer
(F):5'- GCGCTGTGCTCAAGAACTATG -3'
(R):5'- TCCTAGAAGGAGCTGTGCCTG -3'

Posted On

2015-09-25