Mutagenetix > Incidental Mutation

Incidental Mutation 'R8523:Myo1a'

658664

Institutional Source

Beutler Lab

Gene Symbol

Myo1a

Ensembl Gene

ENSMUSG00000025401

Gene Name

myosin IA

Synonyms

brush border myosin 1, BBM-I, Myhl

MMRRC Submission

067948-MU

Accession Numbers

Essential gene?

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

Stock #

R8523 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127541039-127556809 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127547027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 362 (N362K)

Ref Sequence

ENSEMBL: ENSMUSP00000078540 (fasta)

Gene Model

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

AlphaFold

O88329

Predicted Effect

probably damaging
Transcript: ENSMUST00000079590
AA Change: N362K

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

SMART Domains

Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: N362K

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Ammecr1l	T	C	18: 31,905,152 (GRCm39)	F131S	probably damaging	Het
Apbb1ip	A	C	2: 22,709,648 (GRCm39)	D35A	unknown	Het
Arhgap12	A	T	18: 6,111,976 (GRCm39)	D129E	probably benign	Het
Arpc1b	A	G	5: 145,061,492 (GRCm39)	D163G	probably damaging	Het
Atxn7l1	A	T	12: 33,396,023 (GRCm39)	T251S	probably benign	Het
Best1	T	C	19: 9,969,027 (GRCm39)	I230V	possibly damaging	Het
Brca2	A	G	5: 150,483,613 (GRCm39)	T2888A	possibly damaging	Het
Cad	T	C	5: 31,215,450 (GRCm39)	V87A	probably damaging	Het
Ccdc168	A	T	1: 44,099,994 (GRCm39)	I368K	possibly damaging	Het
Ccdc39	C	T	3: 33,869,560 (GRCm39)		probably null	Het
Clcn1	T	A	6: 42,284,523 (GRCm39)	C548*	probably null	Het
Col18a1	A	G	10: 76,890,068 (GRCm39)	S1678P	probably damaging	Het
Col6a6	T	C	9: 105,651,987 (GRCm39)	N1008S	possibly damaging	Het
Defb41	A	T	1: 18,321,519 (GRCm39)	C32S	possibly damaging	Het
Dnah6	T	C	6: 73,072,171 (GRCm39)	N2437S	probably damaging	Het
Drosha	T	C	15: 12,834,408 (GRCm39)	Y171H	unknown	Het
Ehd1	T	C	19: 6,344,613 (GRCm39)	L291P	probably damaging	Het
Eif3c	A	T	7: 126,147,069 (GRCm39)	H734Q	possibly damaging	Het
Erich5	A	T	15: 34,471,502 (GRCm39)	T244S	probably benign	Het
Fam186b	T	A	15: 99,177,613 (GRCm39)	H571L	probably benign	Het
Fer1l5	A	G	1: 36,426,271 (GRCm39)	K360E	probably benign	Het
Fga	A	T	3: 82,938,158 (GRCm39)	I178F	probably damaging	Het
Gale	A	T	4: 135,694,987 (GRCm39)	T320S	probably benign	Het
Gm11232	A	T	4: 71,675,465 (GRCm39)	S99T	probably benign	Het
Gpr137	C	T	19: 6,917,803 (GRCm39)	W94*	probably null	Het
Grm7	T	A	6: 111,223,280 (GRCm39)	M440K	possibly damaging	Het
Hacd4	A	G	4: 88,353,286 (GRCm39)	F69L	probably damaging	Het
Hdac7	T	A	15: 97,706,251 (GRCm39)	H304L	probably damaging	Het
Herc1	T	A	9: 66,358,224 (GRCm39)	I2435N	probably benign	Het
Itgb7	G	A	15: 102,124,957 (GRCm39)	R755W	probably damaging	Het
Kdm3b	G	T	18: 34,926,129 (GRCm39)	A90S	probably benign	Het
Mcmdc2	G	A	1: 9,981,946 (GRCm39)	M1I	probably null	Het
Mitd1	A	G	1: 37,918,639 (GRCm39)		probably null	Het
Myh10	A	T	11: 68,688,235 (GRCm39)	Q1232L	probably benign	Het
N4bp1	G	A	8: 87,579,789 (GRCm39)	T671I	probably damaging	Het
Nav3	A	T	10: 109,659,138 (GRCm39)	D826E	probably damaging	Het
Negr1	C	T	3: 156,866,297 (GRCm39)	T282M	probably damaging	Het
Notch1	G	A	2: 26,354,917 (GRCm39)	H1837Y	possibly damaging	Het
Or2m12	A	T	16: 19,104,851 (GRCm39)	V214E	probably benign	Het
Or52e19b	A	T	7: 103,032,413 (GRCm39)	F265L	probably benign	Het
Or5m13	T	A	2: 85,748,407 (GRCm39)	I46N	probably damaging	Het
Or7e177	A	G	9: 20,212,093 (GRCm39)	N200S	probably benign	Het
Pard6a	T	C	8: 106,428,881 (GRCm39)	C47R	probably benign	Het
Parp2	T	C	14: 51,057,247 (GRCm39)		probably null	Het
Pck1	C	A	2: 172,999,064 (GRCm39)	A410D	probably damaging	Het
Pdzph1	G	A	17: 59,191,008 (GRCm39)	L85F	probably damaging	Het
Piezo2	A	G	18: 63,279,873 (GRCm39)	S1P	probably damaging	Het
Pld1	T	A	3: 28,140,025 (GRCm39)	V615D	probably damaging	Het
Plekha7	T	G	7: 115,907,164 (GRCm39)	I23L	probably benign	Het
Prkcz	T	G	4: 155,346,968 (GRCm39)	D388A	probably damaging	Het
Rab36	A	G	10: 74,888,335 (GRCm39)	R260G	probably benign	Het
Reln	C	A	5: 22,209,229 (GRCm39)	R1116S	probably damaging	Het
Rskr	A	T	11: 78,184,210 (GRCm39)	M225L	probably benign	Het
Rundc3b	T	G	5: 8,619,505 (GRCm39)	K151Q	probably damaging	Het
Scaf11	A	G	15: 96,316,988 (GRCm39)	S859P	probably damaging	Het
Slc25a32	C	T	15: 38,963,281 (GRCm39)	R180H	probably benign	Het
Slc4a9	G	A	18: 36,665,196 (GRCm39)	G443E	possibly damaging	Het
Slmap	T	A	14: 26,150,965 (GRCm39)	K534N	probably damaging	Het
Sncaip	G	A	18: 52,971,088 (GRCm39)	A3T	probably damaging	Het
Spata31d1c	G	T	13: 65,180,991 (GRCm39)	S30I	probably damaging	Het
Srrm1	A	T	4: 135,051,313 (GRCm39)	V789E	unknown	Het
Srrm2	A	T	17: 24,027,489 (GRCm39)		probably benign	Het
St7l	T	C	3: 104,775,373 (GRCm39)	F83S	probably damaging	Het
Taf15	C	T	11: 83,375,678 (GRCm39)	Q48*	probably null	Het
Tek	A	T	4: 94,687,403 (GRCm39)	D172V	probably benign	Het
Tmem232	T	C	17: 65,785,366 (GRCm39)	Y198C	probably damaging	Het
Tns3	A	T	11: 8,398,779 (GRCm39)	V1191E	probably damaging	Het
Togaram1	A	G	12: 65,067,088 (GRCm39)	D1710G	probably damaging	Het
Trav16d-dv11	T	C	14: 53,285,122 (GRCm39)	I66T	probably benign	Het
Ttn	T	A	2: 76,577,289 (GRCm39)	T24535S	possibly damaging	Het
Ttn	A	T	2: 76,730,087 (GRCm39)	L911*	probably null	Het
Ube4a	A	G	9: 44,861,130 (GRCm39)	S227P	probably damaging	Het
Ubqln1	T	C	13: 58,339,569 (GRCm39)	T352A	probably benign	Het
Vmn1r174	C	T	7: 23,454,182 (GRCm39)	P283S	probably damaging	Het
Vmn1r59	T	C	7: 5,457,053 (GRCm39)	T236A	probably damaging	Het
Vmn2r3	T	C	3: 64,182,311 (GRCm39)	I463V	probably benign	Het
Wdr95	A	G	5: 149,497,461 (GRCm39)	D213G	probably damaging	Het
Zbtb49	T	A	5: 38,370,669 (GRCm39)	H404L	probably damaging	Het
Zfp879	A	G	11: 50,728,757 (GRCm39)	M79T	probably benign	Het
Zmiz2	G	A	11: 6,352,441 (GRCm39)	C600Y	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
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
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'- TGAATGTCACACAGGTAAGAGCC -3'
(R):5'- TGTTGCCAAATCAGGAGCCC -3'

Sequencing Primer
(F):5'- CCTCCTGAAAAAGCTGACTTTGAG -3'
(R):5'- TCTCTGAGAAGGTGAAGGACC -3'

Posted On

2021-01-18