Mutagenetix > Incidental Mutation

Incidental Mutation 'R4649:Myo1a'

350614

Institutional Source

Beutler Lab

Gene Symbol

Myo1a

Ensembl Gene

ENSMUSG00000025401

Gene Name

myosin IA

Synonyms

brush border myosin 1, BBM-I, Myhl

MMRRC Submission

041910-MU

Accession Numbers

Essential gene?

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

Stock #

R4649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127541039-127556809 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127546086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 236 (N236K)

Ref Sequence

ENSEMBL: ENSMUSP00000078540 (fasta)

Gene Model

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

AlphaFold

O88329

Predicted Effect

probably benign
Transcript: ENSMUST00000079590
AA Change: N236K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: N236K

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,436,559 (GRCm39)	E168K	unknown	Het
Abca4	G	T	3: 121,963,542 (GRCm39)	V841F	probably damaging	Het
Adcy10	G	A	1: 165,331,618 (GRCm39)	E84K	probably damaging	Het
Adgrg6	C	A	10: 14,344,571 (GRCm39)	M127I	probably damaging	Het
Agpat5	A	G	8: 18,929,668 (GRCm39)	I266V	possibly damaging	Het
Agtpbp1	A	T	13: 59,676,213 (GRCm39)	Y186N	possibly damaging	Het
Alx1	A	T	10: 102,845,193 (GRCm39)	N279K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Arsi	A	G	18: 61,050,170 (GRCm39)	Y351C	probably damaging	Het
B4galnt3	T	A	6: 120,201,581 (GRCm39)	R155W	probably damaging	Het
BC028528	T	C	3: 95,795,577 (GRCm39)	E75G	probably damaging	Het
Bmp2k	C	T	5: 97,200,970 (GRCm39)	P297S	possibly damaging	Het
Btnl4	A	G	17: 34,691,602 (GRCm39)	S296P	probably benign	Het
Bzw2	A	T	12: 36,173,980 (GRCm39)	V98E	probably null	Het
Cacna1d	C	T	14: 29,817,365 (GRCm39)	M1232I	probably benign	Het
Cast	A	G	13: 74,894,133 (GRCm39)	S171P	probably benign	Het
Catsperb	G	A	12: 101,507,771 (GRCm39)	A513T	probably benign	Het
Cd19	A	G	7: 126,013,664 (GRCm39)	S42P	probably benign	Het
Chml	A	G	1: 175,514,962 (GRCm39)	S138P	probably benign	Het
Clic6	T	G	16: 92,327,827 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,547,076 (GRCm39)	V2252E	probably damaging	Het
Cplx2	G	A	13: 54,527,361 (GRCm39)	E82K	probably benign	Het
Csmd2	G	A	4: 128,439,866 (GRCm39)	V3107M	probably benign	Het
Cspg4	T	A	9: 56,794,149 (GRCm39)	V628D	possibly damaging	Het
Dcaf13	G	A	15: 39,001,637 (GRCm39)	R315Q	possibly damaging	Het
Deaf1	A	G	7: 140,877,486 (GRCm39)	V547A	possibly damaging	Het
Dmxl1	C	T	18: 50,011,698 (GRCm39)	T1285I	probably damaging	Het
Dnah3	C	A	7: 119,646,921 (GRCm39)	W1036L	probably damaging	Het
Dnai3	A	G	3: 145,753,922 (GRCm39)	S713P	probably damaging	Het
Dpy19l1	A	C	9: 24,393,350 (GRCm39)	S140A	possibly damaging	Het
Dsg2	T	A	18: 20,735,302 (GRCm39)	D1093E	possibly damaging	Het
Edaradd	T	A	13: 12,523,304 (GRCm39)	H12L	probably damaging	Het
Enam	T	C	5: 88,640,827 (GRCm39)	M163T	probably benign	Het
Fbxo22	T	A	9: 55,128,333 (GRCm39)	V218E	probably damaging	Het
Fbxo34	A	T	14: 47,767,085 (GRCm39)	K148N	probably damaging	Het
Foxi3	A	G	6: 70,933,960 (GRCm39)	D149G	probably damaging	Het
Gbp8	C	T	5: 105,189,807 (GRCm39)	G75D	probably damaging	Het
Gm10784	C	T	13: 50,099,251 (GRCm39)		noncoding transcript	Het
Gm7247	G	A	14: 51,807,051 (GRCm39)		probably null	Het
Grik3	T	A	4: 125,544,278 (GRCm39)	V333E	probably damaging	Het
Gsap	A	T	5: 21,431,309 (GRCm39)	D211V	probably damaging	Het
H2-T15	T	C	17: 36,368,768 (GRCm39)	Y104C	possibly damaging	Het
Ino80	T	C	2: 119,261,489 (GRCm39)	N725S	probably damaging	Het
Itgad	A	G	7: 127,788,703 (GRCm39)	I443V	probably benign	Het
Itsn1	T	A	16: 91,638,476 (GRCm39)	I52N	probably damaging	Het
Kmt2b	TCTCCTCCTCCTCCTCCTCCTCCTCC	TCTCCTCCTCCTCCTCCTCCTCC	7: 30,285,783 (GRCm39)		probably benign	Het
Lamc1	T	G	1: 153,104,523 (GRCm39)	S59R	probably damaging	Het
Lrrk1	T	C	7: 65,922,801 (GRCm39)	I1366V	probably benign	Het
Lyn	C	A	4: 3,738,850 (GRCm39)	Q41K	probably benign	Het
Mapk13	C	T	17: 28,997,461 (GRCm39)	R360*	probably null	Het
Mapk8ip3	T	A	17: 25,123,726 (GRCm39)	I599F	probably damaging	Het
Me1	T	C	9: 86,561,905 (GRCm39)	K60R	probably benign	Het
Mga	T	A	2: 119,771,974 (GRCm39)	D1532E	possibly damaging	Het
Miga1	G	A	3: 151,984,642 (GRCm39)	S427L	probably benign	Het
Mknk2	A	T	10: 80,505,173 (GRCm39)	V186E	probably damaging	Het
Myt1	A	G	2: 181,439,207 (GRCm39)	D243G	probably benign	Het
Ncf4	T	C	15: 78,140,189 (GRCm39)	V196A	possibly damaging	Het
Nlrp5	G	T	7: 23,117,603 (GRCm39)	L442F	probably damaging	Het
Olfm4	G	A	14: 80,258,747 (GRCm39)	D332N	probably benign	Het
Or4a81	C	A	2: 89,619,637 (GRCm39)	V20F	probably benign	Het
Or4b1d	T	A	2: 89,969,432 (GRCm39)	D17V	probably damaging	Het
Osbpl11	T	A	16: 33,016,452 (GRCm39)	M69K	probably benign	Het
Oxnad1	T	A	14: 31,824,366 (GRCm39)	*312K	probably null	Het
Plekhg1	A	G	10: 3,906,985 (GRCm39)	Q634R	probably benign	Het
Plekhh2	T	C	17: 84,882,691 (GRCm39)	Y733H	probably damaging	Het
Ppp1r21	A	G	17: 88,856,941 (GRCm39)	H132R	probably benign	Het
Prkcq	T	C	2: 11,284,333 (GRCm39)	V501A	possibly damaging	Het
Prpf38b	G	A	3: 108,811,408 (GRCm39)		probably benign	Het
Prpf4b	A	T	13: 35,083,954 (GRCm39)	M908L	probably benign	Het
Prps2	T	C	X: 166,135,288 (GRCm39)	D183G	probably damaging	Het
Pudp	T	C	18: 50,701,259 (GRCm39)	D158G	probably damaging	Het
R3hdm1	T	C	1: 128,112,181 (GRCm39)	S422P	probably damaging	Het
Ranbp3	T	A	17: 57,003,640 (GRCm39)		probably null	Het
Ranbp6	A	G	19: 29,787,721 (GRCm39)	V877A	probably benign	Het
Rgsl1	A	T	1: 153,693,328 (GRCm39)	S618T	probably benign	Het
Rhox2a	A	T	X: 36,509,015 (GRCm39)	I61L	probably benign	Het
Rhox2a	G	C	X: 36,508,962 (GRCm39)	R43P	probably benign	Het
Rnf207	A	C	4: 152,396,612 (GRCm39)	D466E	probably benign	Het
Rnf7	A	G	9: 96,353,883 (GRCm39)	I80T	probably benign	Het
Ros1	T	A	10: 52,005,764 (GRCm39)	I878F	possibly damaging	Het
Rsbn1	T	A	3: 103,861,096 (GRCm39)		probably null	Het
Sbk1	T	C	7: 125,890,301 (GRCm39)	S105P	probably damaging	Het
Sdk1	T	C	5: 141,992,380 (GRCm39)	Y790H	probably damaging	Het
Sec62	T	A	3: 30,864,683 (GRCm39)	N182K	unknown	Het
Slc15a1	T	C	14: 121,715,504 (GRCm39)	Y345C	probably damaging	Het
Slc27a1	G	A	8: 72,023,408 (GRCm39)	A15T	probably benign	Het
Slc35d1	A	G	4: 103,070,426 (GRCm39)	F110L	probably damaging	Het
Slc39a5	T	A	10: 128,233,136 (GRCm39)	S333C	probably benign	Het
Tarbp1	A	G	8: 127,173,934 (GRCm39)	S927P	probably damaging	Het
Tns1	A	G	1: 73,992,930 (GRCm39)	S583P	probably damaging	Het
Trim38	A	T	13: 23,966,952 (GRCm39)	D133V	probably damaging	Het
Trim40	T	C	17: 37,193,531 (GRCm39)		probably null	Het
Trim42	C	A	9: 97,244,998 (GRCm39)	V601L	probably benign	Het
Trpc7	G	A	13: 57,035,367 (GRCm39)	R189C	probably damaging	Het
Ttc29	A	T	8: 79,060,208 (GRCm39)	Y376F	probably benign	Het
Vmn2r63	A	G	7: 42,553,114 (GRCm39)	I714T	possibly damaging	Het
Vmn2r68	C	A	7: 84,870,743 (GRCm39)	A847S	probably benign	Het
Zbp1	G	A	2: 173,049,608 (GRCm39)	P385S	possibly damaging	Het
Zfat	A	G	15: 68,056,325 (GRCm39)	Y237H	probably damaging	Het
Zfp236	A	T	18: 82,615,784 (GRCm39)	W1840R	probably damaging	Het
Zfp426	G	T	9: 20,381,923 (GRCm39)	Q341K	possibly damaging	Het
Zfp462	T	A	4: 55,009,349 (GRCm39)	N438K	probably benign	Het
Zfp952	T	A	17: 33,221,899 (GRCm39)	V88E	probably damaging	Het
Znfx1	G	T	2: 166,898,276 (GRCm39)	A216D	probably benign	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
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'- TGAGCCTAAGTCATGACCAGG -3'
(R):5'- AACTCGTCTGTCAGCTTCAC -3'

Sequencing Primer
(F):5'- CCTAAGTCATGACCAGGGGCAAG -3'
(R):5'- TCCTCTGAGAAGCCAATCACTG -3'

Posted On

2015-10-08