Mutagenetix > Incidental Mutation

Incidental Mutation 'R3812:Myo1a'

274109

Institutional Source

Beutler Lab

Gene Symbol

Myo1a

Ensembl Gene

ENSMUSG00000025401

Gene Name

myosin IA

Synonyms

brush border myosin 1, BBM-I, Myhl

MMRRC Submission

040768-MU

Accession Numbers

Essential gene?

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

Stock #

R3812 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127541039-127556809 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127543284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 180 (N180S)

Ref Sequence

ENSEMBL: ENSMUSP00000078540 (fasta)

Gene Model

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

AlphaFold

O88329

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079590
AA Change: N180S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: N180S

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

0.1474

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (28/28)

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	T	C	15: 96,186,967 (GRCm39)	V73A	probably benign	Het
Bpifb2	T	A	2: 153,733,871 (GRCm39)	D404E	probably benign	Het
Ccdc150	A	G	1: 54,407,469 (GRCm39)	M1082V	probably benign	Het
Cyp4a31	T	C	4: 115,423,706 (GRCm39)	S137P	probably benign	Het
Cyp4f15	A	G	17: 32,905,151 (GRCm39)	I45V	probably benign	Het
Fbxw28	C	A	9: 109,167,598 (GRCm39)	C53F	possibly damaging	Het
Galntl5	T	C	5: 25,391,178 (GRCm39)	F26L	probably benign	Het
Gm9637	A	T	14: 19,402,398 (GRCm38)		noncoding transcript	Het
Lcmt2	G	A	2: 120,969,187 (GRCm39)	A632V	probably benign	Het
Metap2	A	T	10: 93,706,026 (GRCm39)	L252*	probably null	Het
Nlrp4a	T	C	7: 26,149,118 (GRCm39)	W242R	probably benign	Het
Or4c12b	T	A	2: 89,647,395 (GRCm39)	S242T	probably damaging	Het
Or5w18	C	T	2: 87,633,396 (GRCm39)	S221F	possibly damaging	Het
Or5w19	T	A	2: 87,698,745 (GRCm39)	S137T	probably damaging	Het
Otogl	A	G	10: 107,735,332 (GRCm39)	Y151H	probably damaging	Het
Pkd1	T	C	17: 24,784,615 (GRCm39)	V387A	probably benign	Het
Polm	A	G	11: 5,779,512 (GRCm39)	F429L	possibly damaging	Het
Sco2	T	C	15: 89,257,882 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sorbs2	A	G	8: 46,216,067 (GRCm39)	T105A	probably benign	Het
Syt10	A	T	15: 89,675,000 (GRCm39)	C449S	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Txndc5	T	C	13: 38,707,381 (GRCm39)	K99E	probably benign	Het
Usp34	T	A	11: 23,414,517 (GRCm39)	F2820Y	possibly damaging	Het
Vmn1r170	T	C	7: 23,305,717 (GRCm39)	S40P	probably damaging	Het
Zfp292	A	T	4: 34,810,326 (GRCm39)	L906Q	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
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'- TGAGTGAACACATCTGCCCC -3'
(R):5'- ATGCATCCATCTGAAAGCCC -3'

Sequencing Primer
(F):5'- GGTGGGCAGGAAGAACTC -3'
(R):5'- ATCTGAAAGCCCAGGGGACTC -3'

Posted On

2015-04-02