Mutagenetix > Incidental Mutation

Incidental Mutation 'R6282:Myo1d'

508007

Institutional Source

Beutler Lab

Gene Symbol

Myo1d

Ensembl Gene

ENSMUSG00000035441

Gene Name

myosin ID

Synonyms

D11Ertd9e, 9930104H07Rik

MMRRC Submission

044452-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80372952-80670851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80448338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 929 (V929D)

Ref Sequence

ENSEMBL: ENSMUSP00000037819 (fasta)

Gene Model

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

AlphaFold

Q5SYD0

Predicted Effect

probably damaging
Transcript: ENSMUST00000041065
AA Change: V929D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: V929D

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

Meta Mutation Damage Score

0.7982

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,690,781 (GRCm39)	L185Q	possibly damaging	Het
Abca6	A	T	11: 110,099,650 (GRCm39)	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,252,822 (GRCm39)	I708N	probably benign	Het
Axin1	C	G	17: 26,362,011 (GRCm39)	D118E	probably damaging	Het
Bace2	A	T	16: 97,216,297 (GRCm39)	I297F	probably damaging	Het
Ccdc30	T	A	4: 119,181,214 (GRCm39)	D649V	probably damaging	Het
Cd180	G	A	13: 102,830,265 (GRCm39)	A20T	possibly damaging	Het
Cdk18	T	C	1: 132,047,758 (GRCm39)	D112G	probably damaging	Het
Cuedc1	A	G	11: 88,074,228 (GRCm39)	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,542,760 (GRCm39)	H2470R	probably damaging	Het
Drap1	G	A	19: 5,474,464 (GRCm39)		probably null	Het
Fbxo5	T	A	10: 5,751,216 (GRCm39)	K257M	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm12790	A	G	4: 101,824,713 (GRCm39)	V185A	possibly damaging	Het
Gm7361	A	G	5: 26,465,411 (GRCm39)	N136S	probably benign	Het
Il10ra	C	A	9: 45,171,703 (GRCm39)	C255F	probably damaging	Het
Insyn2b	A	G	11: 34,352,819 (GRCm39)	D287G	possibly damaging	Het
Itgam	A	T	7: 127,684,114 (GRCm39)	T340S	probably benign	Het
Ktn1	A	T	14: 47,901,428 (GRCm39)	N62I	probably damaging	Het
Ldb2	A	G	5: 44,690,007 (GRCm39)	L204P	probably damaging	Het
Map2k4	T	C	11: 65,597,842 (GRCm39)	T90A	possibly damaging	Het
Mettl3	A	T	14: 52,535,428 (GRCm39)	D287E	probably benign	Het
Mier2	A	G	10: 79,380,576 (GRCm39)	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,195,937 (GRCm39)	M609T	probably benign	Het
Naprt	A	T	15: 75,763,828 (GRCm39)	M364K	probably benign	Het
Nod2	T	A	8: 89,397,088 (GRCm39)	C833S	probably benign	Het
Nrip3	C	T	7: 109,362,686 (GRCm39)		probably null	Het
Ntsr2	A	G	12: 16,708,426 (GRCm39)	Y320C	probably damaging	Het
Or14j8	G	A	17: 38,263,315 (GRCm39)	S200F	possibly damaging	Het
Or4p7	C	A	2: 88,221,877 (GRCm39)	C95*	probably null	Het
Or51h1	G	A	7: 102,308,854 (GRCm39)	M275I	probably benign	Het
Osbpl3	A	T	6: 50,325,063 (GRCm39)		probably null	Het
Pcdhb3	C	T	18: 37,434,699 (GRCm39)	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,744,200 (GRCm39)	R184S	probably benign	Het
Pramel32	T	C	4: 88,548,291 (GRCm39)	E38G	probably damaging	Het
Rad50	A	T	11: 53,560,597 (GRCm39)		probably null	Het
Rad51ap2	A	T	12: 11,507,560 (GRCm39)	H494L	probably benign	Het
Rbm25	T	C	12: 83,722,863 (GRCm39)	M762T	probably damaging	Het
Sars1	G	T	3: 108,335,590 (GRCm39)	S338*	probably null	Het
Usp35	T	C	7: 96,975,155 (GRCm39)	E6G	probably damaging	Het
Vash2	T	C	1: 190,692,422 (GRCm39)	Y251C	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr20	T	A	12: 110,763,443 (GRCm39)		probably benign	Het
Wfdc1	G	A	8: 120,406,146 (GRCm39)	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,667,805 (GRCm39)	H224Q	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATAAGGCCGGATGCTAATTTCACC -3'
(R):5'- AAGGTTAAAATCGTCACCATCG -3'

Sequencing Primer
(F):5'- GCCGGATGCTAATTTCACCTTCTATG -3'
(R):5'- AAATCGTCACCATCGTTGCTATG -3'

Posted On

2018-03-15