Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00432:Myo1d'

4532

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo1d

Ensembl Gene

ENSMUSG00000035441

Gene Name

myosin ID

Synonyms

D11Ertd9e, 9930104H07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00432

Quality Score

Status

Chromosome

Chromosomal Location

80372952-80670851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80492566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 730 (Y730H)

Ref Sequence

ENSEMBL: ENSMUSP00000066948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041065] [ENSMUST00000070997]

AlphaFold

Q5SYD0

Predicted Effect

probably benign
Transcript: ENSMUST00000041065
AA Change: Y730H

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

SMART Domains

Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: Y730H

Domain	Start	End	E-Value	Type
MYSc	3	696	N/A	SMART
IQ	697	719	1.46e-3	SMART
Pfam:Myosin_TH1	803	1006	4.1e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070997
AA Change: Y730H

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

SMART Domains

Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: Y730H

Domain	Start	End	E-Value	Type
MYSc	3	696	N/A	SMART
IQ	697	719	1.46e-3	SMART
Pfam:Myosin_TH1	802	913	1.8e-26	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	T	1: 130,670,573 (GRCm39)	Q265L	possibly damaging	Het
Akr1c18	T	A	13: 4,187,232 (GRCm39)	H168L	probably damaging	Het
Arid3b	A	G	9: 57,741,207 (GRCm39)	S80P	possibly damaging	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Brd1	A	C	15: 88,614,361 (GRCm39)	V178G	probably benign	Het
Brd2	C	T	17: 34,333,397 (GRCm39)	R26Q	probably damaging	Het
Ddr2	T	C	1: 169,825,527 (GRCm39)	M358V	probably benign	Het
Dnajc14	A	G	10: 128,642,201 (GRCm39)	D41G	probably damaging	Het
Erap1	T	G	13: 74,821,778 (GRCm39)	V711G	probably benign	Het
Gchfr	A	G	2: 119,000,229 (GRCm39)	R37G	probably damaging	Het
Gm20518	T	A	16: 17,676,362 (GRCm39)	N136I	probably damaging	Het
Grm6	A	T	11: 50,754,124 (GRCm39)		probably benign	Het
Hydin	T	A	8: 111,327,884 (GRCm39)	V4797E	probably damaging	Het
Iws1	C	A	18: 32,217,741 (GRCm39)	N448K	probably benign	Het
Lin7c	T	C	2: 109,726,798 (GRCm39)		probably benign	Het
Lrrc40	T	A	3: 157,754,087 (GRCm39)	L196Q	probably damaging	Het
Lrrtm2	C	T	18: 35,346,321 (GRCm39)	G327D	probably benign	Het
Masp1	C	T	16: 23,332,601 (GRCm39)	C78Y	probably damaging	Het
Mmd	C	T	11: 90,155,360 (GRCm39)	R101W	probably damaging	Het
Pcdh15	A	G	10: 74,126,914 (GRCm39)		probably benign	Het
Pglyrp4	G	A	3: 90,646,335 (GRCm39)	V290M	probably damaging	Het
Plxna2	G	A	1: 194,326,404 (GRCm39)	V113I	probably benign	Het
Prkch	T	A	12: 73,749,363 (GRCm39)		probably benign	Het
Rabgef1	G	T	5: 130,237,565 (GRCm39)	E213*	probably null	Het
Rdh16f2	T	A	10: 127,702,533 (GRCm39)	C37S	probably damaging	Het
Reln	A	G	5: 22,215,125 (GRCm39)	Y1109H	probably damaging	Het
Scn7a	A	T	2: 66,572,326 (GRCm39)	L215*	probably null	Het
Slc25a33	A	T	4: 149,829,376 (GRCm39)	L261H	probably damaging	Het
Slc28a3	A	T	13: 58,717,225 (GRCm39)		probably null	Het
Slc38a6	T	C	12: 73,398,577 (GRCm39)	I369T	probably benign	Het
Tgm4	A	T	9: 122,891,447 (GRCm39)		probably benign	Het
Tnr	A	G	1: 159,688,815 (GRCm39)	I426V	probably benign	Het
Vmn1r216	A	G	13: 23,283,574 (GRCm39)	I86V	probably benign	Het
Wwc1	G	A	11: 35,735,029 (GRCm39)	P949S	possibly damaging	Het
Zfp326	A	T	5: 106,044,399 (GRCm39)	I286F	probably damaging	Het

Other mutations in Myo1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Myo1d	APN	11	80,573,261 (GRCm39)	missense	probably damaging	1.00
IGL01326:Myo1d	APN	11	80,575,147 (GRCm39)	splice site	probably benign
IGL01431:Myo1d	APN	11	80,565,665 (GRCm39)	missense	probably damaging	1.00
IGL01595:Myo1d	APN	11	80,566,936 (GRCm39)	missense	probably benign	0.00
IGL01811:Myo1d	APN	11	80,583,823 (GRCm39)	missense	probably damaging	0.96
IGL02301:Myo1d	APN	11	80,567,679 (GRCm39)	missense	probably benign	0.23
IGL02388:Myo1d	APN	11	80,528,823 (GRCm39)	nonsense	probably null
IGL02485:Myo1d	APN	11	80,557,407 (GRCm39)	missense	probably damaging	1.00
IGL03017:Myo1d	APN	11	80,492,452 (GRCm39)	missense	probably benign	0.26
horton	UTSW	11	80,565,534 (GRCm39)	missense	probably damaging	1.00
multifaceted	UTSW	11	80,583,898 (GRCm39)	missense	probably damaging	1.00
whisper	UTSW	11	80,375,158 (GRCm39)	missense	probably damaging	0.99
whisper2	UTSW	11	80,557,404 (GRCm39)	missense	probably damaging	1.00
whisper3	UTSW	11	80,448,347 (GRCm39)	missense	probably damaging	1.00
R0069:Myo1d	UTSW	11	80,528,779 (GRCm39)	missense	probably damaging	1.00
R0069:Myo1d	UTSW	11	80,528,779 (GRCm39)	missense	probably damaging	1.00
R0081:Myo1d	UTSW	11	80,448,349 (GRCm39)	missense	probably benign	0.00
R0096:Myo1d	UTSW	11	80,375,158 (GRCm39)	missense	probably damaging	0.99
R0096:Myo1d	UTSW	11	80,375,158 (GRCm39)	missense	probably damaging	0.99
R0244:Myo1d	UTSW	11	80,565,534 (GRCm39)	missense	probably damaging	1.00
R0711:Myo1d	UTSW	11	80,375,158 (GRCm39)	missense	probably damaging	0.99
R0746:Myo1d	UTSW	11	80,477,705 (GRCm39)	missense	possibly damaging	0.94
R1084:Myo1d	UTSW	11	80,575,221 (GRCm39)	missense	probably damaging	1.00
R1514:Myo1d	UTSW	11	80,576,734 (GRCm39)	missense	probably damaging	0.97
R1676:Myo1d	UTSW	11	80,575,247 (GRCm39)	missense	probably damaging	1.00
R1862:Myo1d	UTSW	11	80,553,874 (GRCm39)	missense	probably damaging	1.00
R2497:Myo1d	UTSW	11	80,565,647 (GRCm39)	missense	probably damaging	1.00
R2512:Myo1d	UTSW	11	80,670,543 (GRCm39)	missense	probably benign	0.00
R3425:Myo1d	UTSW	11	80,492,464 (GRCm39)	missense	probably benign
R3429:Myo1d	UTSW	11	80,573,236 (GRCm39)	missense	probably damaging	1.00
R3917:Myo1d	UTSW	11	80,557,404 (GRCm39)	missense	probably damaging	1.00
R3928:Myo1d	UTSW	11	80,375,087 (GRCm39)	missense	probably benign	0.09
R4706:Myo1d	UTSW	11	80,557,467 (GRCm39)	missense	probably damaging	0.96
R4723:Myo1d	UTSW	11	80,670,667 (GRCm39)	utr 5 prime	probably benign
R4924:Myo1d	UTSW	11	80,565,504 (GRCm39)	missense	probably damaging	1.00
R5042:Myo1d	UTSW	11	80,448,347 (GRCm39)	missense	probably damaging	1.00
R5320:Myo1d	UTSW	11	80,575,149 (GRCm39)	critical splice donor site	probably null
R5481:Myo1d	UTSW	11	80,553,921 (GRCm39)	missense	possibly damaging	0.79
R6214:Myo1d	UTSW	11	80,670,617 (GRCm39)	start codon destroyed	probably null	0.98
R6235:Myo1d	UTSW	11	80,583,770 (GRCm39)	missense	probably benign	0.23
R6282:Myo1d	UTSW	11	80,448,338 (GRCm39)	missense	probably damaging	0.99
R6468:Myo1d	UTSW	11	80,448,300 (GRCm39)	missense	probably benign	0.00
R6668:Myo1d	UTSW	11	80,474,701 (GRCm39)	intron	probably benign
R6954:Myo1d	UTSW	11	80,565,783 (GRCm39)	missense	probably benign	0.21
R7077:Myo1d	UTSW	11	80,565,460 (GRCm39)	missense	probably damaging	1.00
R7078:Myo1d	UTSW	11	80,565,460 (GRCm39)	missense	probably damaging	1.00
R7080:Myo1d	UTSW	11	80,565,460 (GRCm39)	missense	probably damaging	1.00
R7172:Myo1d	UTSW	11	80,483,621 (GRCm39)	missense	probably benign	0.16
R7276:Myo1d	UTSW	11	80,583,898 (GRCm39)	missense	probably damaging	1.00
R7467:Myo1d	UTSW	11	80,477,743 (GRCm39)	missense	probably damaging	1.00
R7650:Myo1d	UTSW	11	80,492,510 (GRCm39)	missense	probably benign
R7678:Myo1d	UTSW	11	80,567,719 (GRCm39)	missense	possibly damaging	0.80
R7859:Myo1d	UTSW	11	80,575,203 (GRCm39)	missense	probably damaging	1.00
R8324:Myo1d	UTSW	11	80,448,347 (GRCm39)	missense	probably damaging	1.00
R8329:Myo1d	UTSW	11	80,528,900 (GRCm39)	missense	probably benign	0.21
R8474:Myo1d	UTSW	11	80,561,745 (GRCm39)	missense	possibly damaging	0.93
R8799:Myo1d	UTSW	11	80,575,205 (GRCm39)	missense	probably damaging	1.00
R8810:Myo1d	UTSW	11	80,567,758 (GRCm39)	missense	probably benign	0.30
R8810:Myo1d	UTSW	11	80,565,758 (GRCm39)	missense	probably damaging	1.00
R8823:Myo1d	UTSW	11	80,492,571 (GRCm39)	missense	possibly damaging	0.91
R9221:Myo1d	UTSW	11	80,565,744 (GRCm39)	missense	probably damaging	1.00
R9494:Myo1d	UTSW	11	80,375,093 (GRCm39)	missense	probably benign	0.02
R9625:Myo1d	UTSW	11	80,448,296 (GRCm39)	missense	possibly damaging	0.95
R9626:Myo1d	UTSW	11	80,448,296 (GRCm39)	missense	possibly damaging	0.95
R9628:Myo1d	UTSW	11	80,448,296 (GRCm39)	missense	possibly damaging	0.95
Z1088:Myo1d	UTSW	11	80,565,724 (GRCm39)	missense	probably benign	0.01

Posted On

2012-04-20