Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02301:Myo1d'

290280

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 #

IGL02301

Quality Score

Status

Chromosome

Chromosomal Location

80372952-80670851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80567679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 267 (V267A)

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: V267A

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: V267A

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: V267A

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: V267A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125944

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	A	G	17: 32,551,900 (GRCm39)		probably benign	Het
Alk	T	C	17: 72,181,171 (GRCm39)	Q1373R	probably damaging	Het
Atf7ip2	T	G	16: 10,028,911 (GRCm39)	S148A	probably benign	Het
Bpi	C	T	2: 158,116,734 (GRCm39)	S377F	probably damaging	Het
Ccni	A	T	5: 93,336,034 (GRCm39)	C122S	possibly damaging	Het
Cd5l	A	G	3: 87,273,300 (GRCm39)	R90G	probably benign	Het
Ceacam3	C	T	7: 16,897,026 (GRCm39)	S664F	probably damaging	Het
Clca3a2	A	T	3: 144,512,133 (GRCm39)	D534E	probably damaging	Het
Ep400	A	T	5: 110,822,826 (GRCm39)	S2524R	probably damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gart	A	G	16: 91,418,725 (GRCm39)		probably benign	Het
Gsdmc4	A	G	15: 63,767,113 (GRCm39)	V219A	probably benign	Het
Hus1	T	C	11: 8,946,915 (GRCm39)	T261A	probably benign	Het
Lman2l	A	G	1: 36,482,624 (GRCm39)	I84T	probably damaging	Het
Megf8	G	A	7: 25,037,325 (GRCm39)	V742M	probably damaging	Het
Notch2	A	G	3: 98,048,870 (GRCm39)	T1803A	probably benign	Het
Or1e17	T	A	11: 73,831,894 (GRCm39)	M274K	possibly damaging	Het
Or4f54	T	A	2: 111,123,042 (GRCm39)	M143K	probably benign	Het
Or6c70	A	G	10: 129,709,948 (GRCm39)	F226S	probably damaging	Het
Pate11	T	C	9: 36,388,483 (GRCm39)		probably benign	Het
Pde5a	G	A	3: 122,554,534 (GRCm39)	R208Q	probably damaging	Het
Pla2r1	T	C	2: 60,282,780 (GRCm39)	N745S	probably benign	Het
Ptgdr2	T	A	19: 10,917,573 (GRCm39)	I30N	possibly damaging	Het
Rap1gap2	G	A	11: 74,298,195 (GRCm39)	T415I	probably damaging	Het
Slc6a6	T	C	6: 91,703,037 (GRCm39)	Y137H	probably benign	Het
Sptbn1	A	T	11: 30,092,129 (GRCm39)	D532E	probably damaging	Het
Stk39	T	C	2: 68,042,306 (GRCm39)	D543G	probably damaging	Het
Trpc4	G	A	3: 54,198,653 (GRCm39)	V526M	probably damaging	Het
Trrap	A	G	5: 144,714,727 (GRCm39)	I100V	probably benign	Het
Vmn1r-ps123	A	C	13: 23,180,527 (GRCm39)		noncoding transcript	Het
Vwa5b2	G	A	16: 20,423,540 (GRCm39)	G1151D	probably damaging	Het
Zfp358	T	A	8: 3,546,858 (GRCm39)	I480N	probably benign	Het
Zfp423	T	C	8: 88,508,202 (GRCm39)	D714G	probably damaging	Het

Other mutations in Myo1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Myo1d	APN	11	80,492,566 (GRCm39)	missense	probably benign
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
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

2015-04-16