Mutagenetix > Incidental Mutation

Incidental Mutation 'R4306:Myo1a'

324039

Institutional Source

Beutler Lab

Gene Symbol

Myo1a

Ensembl Gene

ENSMUSG00000025401

Gene Name

myosin IA

Synonyms

brush border myosin 1, BBM-I, Myhl

MMRRC Submission

041092-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R4306 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127541039-127556809 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 127549950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 477 (S477A)

Ref Sequence

ENSEMBL: ENSMUSP00000078540 (fasta)

Gene Model

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

AlphaFold

O88329

Predicted Effect

probably benign
Transcript: ENSMUST00000079590
AA Change: S477A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: S477A

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

Meta Mutation Damage Score

0.0673

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (33/34)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	A	1: 12,042,300 (GRCm39)	S440*	probably null	Het
Chrdl2	A	G	7: 99,671,229 (GRCm39)	T116A	probably damaging	Het
Chst12	T	C	5: 140,510,401 (GRCm39)	F343L	probably damaging	Het
Cpeb2	T	A	5: 43,392,578 (GRCm39)		probably benign	Het
Cyp27b1	A	G	10: 126,886,957 (GRCm39)	D391G	probably benign	Het
Dll3	T	C	7: 28,001,082 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,260,932 (GRCm39)	I2030N	probably damaging	Het
Fap	C	T	2: 62,361,051 (GRCm39)		probably null	Het
Frmd4a	C	T	2: 4,337,889 (GRCm39)	R32C	probably benign	Het
Fzd7	T	C	1: 59,523,566 (GRCm39)	V483A	probably damaging	Het
Gpm6a	T	C	8: 55,500,428 (GRCm39)		probably null	Het
Gprc6a	T	C	10: 51,492,735 (GRCm39)	H539R	probably damaging	Het
Irs1	C	T	1: 82,265,685 (GRCm39)	A844T	probably benign	Het
Naga	C	T	15: 82,221,095 (GRCm39)	W67*	probably null	Het
Or51ah3	G	C	7: 103,210,380 (GRCm39)	R232T	possibly damaging	Het
Or51ah3	A	T	7: 103,210,379 (GRCm39)	R232*	probably null	Het
Osbpl1a	T	C	18: 12,952,652 (GRCm39)	E87G	probably benign	Het
Prr27	A	G	5: 87,990,766 (GRCm39)	H126R	probably benign	Het
Rb1	G	A	14: 73,500,135 (GRCm39)	T504I	probably damaging	Het
Rnf144b	A	G	13: 47,396,418 (GRCm39)	N252D	probably damaging	Het
Slit2	T	A	5: 48,460,125 (GRCm39)	N1385K	possibly damaging	Het
Spaca7b	T	A	8: 11,728,590 (GRCm39)	N27I	probably damaging	Het
Tas2r124	A	G	6: 132,731,954 (GRCm39)	I88V	probably benign	Het
Trip11	A	G	12: 101,853,198 (GRCm39)	F465L	probably benign	Het
Usp31	G	A	7: 121,306,152 (GRCm39)	P109S	possibly damaging	Het
Vmn2r12	A	G	5: 109,233,872 (GRCm39)	L780P	probably damaging	Het
Vmn2r71	G	T	7: 85,273,360 (GRCm39)	D725Y	probably damaging	Het
Zfp459	T	C	13: 67,561,307 (GRCm39)	K47R	probably damaging	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
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'- GGGGACACCAGTAAATCTGTG -3'
(R):5'- TTGTAGGTCACCTGCAGAGG -3'

Sequencing Primer
(F):5'- GACACCAGTAAATCTGTGGACATTG -3'
(R):5'- AGTTTCCCTGAGAAAGTACCTC -3'

Posted On

2015-06-24