Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01431:Myo1d'

84123

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 #

IGL01431

Quality Score

Status

Chromosome

Chromosomal Location

80372952-80670851 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 80565665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 387 (F387V)

Ref Sequence

ENSEMBL: ENSMUSP00000066948 (fasta)

Gene Model

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

AlphaFold

Q5SYD0

Predicted Effect

probably damaging
Transcript: ENSMUST00000041065
AA Change: F387V

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

SMART Domains

Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: F387V

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 damaging
Transcript: ENSMUST00000070997
AA Change: F387V

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

SMART Domains

Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: F387V

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,089,838 (GRCm39)	I897T	possibly damaging	Het
Aqp2	G	A	15: 99,477,301 (GRCm39)	V90M	possibly damaging	Het
Atf6	T	C	1: 170,680,571 (GRCm39)		probably benign	Het
Cdh3	T	C	8: 107,274,301 (GRCm39)	Y607H	probably damaging	Het
Cer1	T	A	4: 82,801,068 (GRCm39)	E198D	probably benign	Het
Dscam	A	G	16: 96,453,278 (GRCm39)		probably null	Het
Ecel1	C	T	1: 87,079,226 (GRCm39)	R484H	probably damaging	Het
Entpd7	C	A	19: 43,718,278 (GRCm39)	H575Q	probably benign	Het
F11r	T	C	1: 171,290,477 (GRCm39)	V279A	probably damaging	Het
Gm17093	T	A	14: 44,759,122 (GRCm39)		probably benign	Het
Got1	T	A	19: 43,491,488 (GRCm39)	K321*	probably null	Het
Gpn1	T	C	5: 31,664,882 (GRCm39)	V302A	probably benign	Het
Hivep1	G	T	13: 42,311,493 (GRCm39)	K1244N	probably damaging	Het
Idh3b	T	C	2: 130,123,817 (GRCm39)	T116A	possibly damaging	Het
Itgb4	C	A	11: 115,897,283 (GRCm39)		probably benign	Het
Mybl1	G	T	1: 9,742,872 (GRCm39)	L579I	probably damaging	Het
Myh14	T	A	7: 44,263,782 (GRCm39)	T1694S	probably null	Het
Mylk3	T	C	8: 86,063,030 (GRCm39)	D537G	probably damaging	Het
Nek9	T	C	12: 85,361,361 (GRCm39)	Y448C	probably benign	Het
Or8k40	A	T	2: 86,584,508 (GRCm39)	H191Q	probably benign	Het
Paxbp1	T	C	16: 90,832,804 (GRCm39)		probably benign	Het
Potefam1	A	T	2: 111,055,740 (GRCm39)		probably benign	Het
Retreg2	T	A	1: 75,121,749 (GRCm39)		probably null	Het
Ripply3	G	A	16: 94,129,402 (GRCm39)	C16Y	possibly damaging	Het
Robo3	G	A	9: 37,330,407 (GRCm39)		probably benign	Het
Rrm1	C	A	7: 102,106,759 (GRCm39)		probably benign	Het
Rsad2	T	A	12: 26,498,666 (GRCm39)	R269S	probably benign	Het
Sbp	A	T	17: 24,164,322 (GRCm39)		probably benign	Het
Schip1	A	T	3: 68,525,110 (GRCm39)	Q162L	probably damaging	Het
Senp1	T	C	15: 97,980,144 (GRCm39)	Y67C	probably damaging	Het
Slc25a25	C	T	2: 32,309,103 (GRCm39)	R233K	probably damaging	Het
Smoc1	C	A	12: 81,199,525 (GRCm39)	S220*	probably null	Het
Stab1	C	A	14: 30,870,952 (GRCm39)	R1299I	probably benign	Het
Stk17b	A	G	1: 53,805,074 (GRCm39)		probably benign	Het
Tmc7	T	G	7: 118,151,985 (GRCm39)	D312A	probably damaging	Het
Vmn1r79	T	C	7: 11,910,327 (GRCm39)	S70P	possibly damaging	Het
Zfc3h1	C	A	10: 115,259,128 (GRCm39)	T1591K	possibly 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
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

2013-11-11