Mutagenetix > Incidental Mutation

Incidental Mutation 'R8474:Myo1d'

657180

Institutional Source

Beutler Lab

Gene Symbol

Myo1d

Ensembl Gene

ENSMUSG00000035441

Gene Name

myosin ID

Synonyms

9930104H07Rik, D11Ertd9e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80482126-80780025 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80670919 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 466 (V466A)

Ref Sequence

ENSEMBL: ENSMUSP00000066948 (fasta)

Gene Model

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

AlphaFold

Q5SYD0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041065
AA Change: V466A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: V466A

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

possibly damaging
Transcript: ENSMUST00000070997
AA Change: V466A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: V466A

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,704,789	S975T	probably damaging	Het
Adgrg1	C	G	8: 95,003,308	T46S	probably damaging	Het
Akip1	T	A	7: 109,707,490	D131E	probably benign	Het
Arhgef39	A	G	4: 43,498,015	V163A	probably benign	Het
Atg2a	T	C	19: 6,251,403		probably null	Het
Bcam	A	T	7: 19,760,400	L357*	probably null	Het
Bcat2	A	G	7: 45,587,651	N194S	probably damaging	Het
Bcl2l14	T	C	6: 134,423,757	L47P	probably benign	Het
Cbln1	C	T	8: 87,472,045	A66T	possibly damaging	Het
Ccdc191	G	T	16: 43,889,899		probably benign	Het
Cd70	C	T	17: 57,149,468	S45N	possibly damaging	Het
Cfap43	G	A	19: 47,897,924	A84V	probably benign	Het
Clca1	T	A	3: 145,005,031	N804Y	possibly damaging	Het
Cmah	A	T	13: 24,417,367	N52I	probably damaging	Het
Crot	A	G	5: 8,993,518	Y35H	probably damaging	Het
Cyp3a59	C	A	5: 146,104,677	P344T	probably benign	Het
Dnah5	A	G	15: 28,247,832	E705G	probably benign	Het
Dnm2	A	G	9: 21,465,720	Y125C	probably damaging	Het
Dst	A	G	1: 34,169,185	Y739C	probably damaging	Het
Eif3a	A	T	19: 60,779,491	M203K	possibly damaging	Het
Enpep	C	T	3: 129,319,427	V283M	probably damaging	Het
Ephx3	A	G	17: 32,188,245	S240P	probably damaging	Het
Evi5l	T	C	8: 4,210,784	H1011R	possibly damaging	Het
Fig4	A	T	10: 41,232,174	F677I	probably benign	Het
Gramd1b	A	G	9: 40,375,911		probably null	Het
Gse1	C	T	8: 120,568,384		probably benign	Het
Hoxa9	A	G	6: 52,225,526		probably null	Het
Ice1	A	T	13: 70,604,447	S1173R	probably benign	Het
Ifi207	G	A	1: 173,729,039	T718I	possibly damaging	Het
Ifit1bl1	A	G	19: 34,594,862	L65P	probably damaging	Het
Impact	T	C	18: 12,974,741	I22T	probably damaging	Het
Lrp1	A	G	10: 127,539,703	C4409R	probably damaging	Het
Mark1	A	G	1: 184,919,586	W131R	probably damaging	Het
Mindy3	T	C	2: 12,400,028	T190A	probably damaging	Het
Mybbp1a	A	G	11: 72,447,737	D721G	probably benign	Het
Myo5b	A	C	18: 74,770,340	D1809A	probably damaging	Het
Nudcd2	C	T	11: 40,734,023	Q20*	probably null	Het
Olfr1318	T	C	2: 112,155,975	M8T	probably benign	Het
Olfr1453	A	G	19: 13,027,993	L112P	probably damaging	Het
Olfr971	T	A	9: 39,839,752	L106H	possibly damaging	Het
Pcif1	A	T	2: 164,888,352	D335V	probably damaging	Het
Pebp4	T	A	14: 69,847,687	C65S	possibly damaging	Het
Ptger1	C	T	8: 83,668,638	A248V	probably benign	Het
Qk	A	T	17: 10,318,818	M19K	probably benign	Het
Ralgapa2	C	G	2: 146,424,830	A609P	probably damaging	Het
Robo2	C	T	16: 73,948,262	G875D	probably damaging	Het
Runx2	A	G	17: 44,608,260	V375A	probably damaging	Het
Sis	A	T	3: 72,929,397	F841I	probably damaging	Het
Slc5a8	A	G	10: 88,921,690	D514G	possibly damaging	Het
Spag17	A	T	3: 100,027,270	T623S	probably benign	Het
Sppl2c	A	G	11: 104,188,137	S588G	probably benign	Het
Stxbp6	A	C	12: 44,902,921	V75G	possibly damaging	Het
Tmc3	G	A	7: 83,609,914	R531Q	probably damaging	Het
Tmem258	T	C	19: 10,207,186	Y41H	probably damaging	Het
Tsks	A	T	7: 44,950,839	T91S	probably damaging	Het
Vmn2r23	T	C	6: 123,704,640	V169A	probably benign	Het
Wdr54	T	C	6: 83,153,004	N282S	probably benign	Het
Yme1l1	T	A	2: 23,162,572	N79K	probably benign	Het

Other mutations in Myo1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Myo1d	APN	11	80601740	missense	probably benign
IGL01087:Myo1d	APN	11	80682435	missense	probably damaging	1.00
IGL01326:Myo1d	APN	11	80684321	splice site	probably benign
IGL01431:Myo1d	APN	11	80674839	missense	probably damaging	1.00
IGL01595:Myo1d	APN	11	80676110	missense	probably benign	0.00
IGL01811:Myo1d	APN	11	80692997	missense	probably damaging	0.96
IGL02301:Myo1d	APN	11	80676853	missense	probably benign	0.23
IGL02388:Myo1d	APN	11	80637997	nonsense	probably null
IGL02485:Myo1d	APN	11	80666581	missense	probably damaging	1.00
IGL03017:Myo1d	APN	11	80601626	missense	probably benign	0.26
horton	UTSW	11	80674708	missense	probably damaging	1.00
multifaceted	UTSW	11	80693072	missense	probably damaging	1.00
whisper	UTSW	11	80484332	missense	probably damaging	0.99
whisper2	UTSW	11	80666578	missense	probably damaging	1.00
whisper3	UTSW	11	80557521	missense	probably damaging	1.00
R0069:Myo1d	UTSW	11	80637953	missense	probably damaging	1.00
R0069:Myo1d	UTSW	11	80637953	missense	probably damaging	1.00
R0081:Myo1d	UTSW	11	80557523	missense	probably benign	0.00
R0096:Myo1d	UTSW	11	80484332	missense	probably damaging	0.99
R0096:Myo1d	UTSW	11	80484332	missense	probably damaging	0.99
R0244:Myo1d	UTSW	11	80674708	missense	probably damaging	1.00
R0711:Myo1d	UTSW	11	80484332	missense	probably damaging	0.99
R0746:Myo1d	UTSW	11	80586879	missense	possibly damaging	0.94
R1084:Myo1d	UTSW	11	80684395	missense	probably damaging	1.00
R1514:Myo1d	UTSW	11	80685908	missense	probably damaging	0.97
R1676:Myo1d	UTSW	11	80684421	missense	probably damaging	1.00
R1862:Myo1d	UTSW	11	80663048	missense	probably damaging	1.00
R2497:Myo1d	UTSW	11	80674821	missense	probably damaging	1.00
R2512:Myo1d	UTSW	11	80779717	missense	probably benign	0.00
R3425:Myo1d	UTSW	11	80601638	missense	probably benign
R3429:Myo1d	UTSW	11	80682410	missense	probably damaging	1.00
R3917:Myo1d	UTSW	11	80666578	missense	probably damaging	1.00
R3928:Myo1d	UTSW	11	80484261	missense	probably benign	0.09
R4706:Myo1d	UTSW	11	80666641	missense	probably damaging	0.96
R4723:Myo1d	UTSW	11	80779841	utr 5 prime	probably benign
R4924:Myo1d	UTSW	11	80674678	missense	probably damaging	1.00
R5042:Myo1d	UTSW	11	80557521	missense	probably damaging	1.00
R5320:Myo1d	UTSW	11	80684323	critical splice donor site	probably null
R5481:Myo1d	UTSW	11	80663095	missense	possibly damaging	0.79
R6214:Myo1d	UTSW	11	80779791	start codon destroyed	probably null	0.98
R6235:Myo1d	UTSW	11	80692944	missense	probably benign	0.23
R6282:Myo1d	UTSW	11	80557512	missense	probably damaging	0.99
R6468:Myo1d	UTSW	11	80557474	missense	probably benign	0.00
R6668:Myo1d	UTSW	11	80583875	intron	probably benign
R6954:Myo1d	UTSW	11	80674957	missense	probably benign	0.21
R7077:Myo1d	UTSW	11	80674634	missense	probably damaging	1.00
R7078:Myo1d	UTSW	11	80674634	missense	probably damaging	1.00
R7080:Myo1d	UTSW	11	80674634	missense	probably damaging	1.00
R7172:Myo1d	UTSW	11	80592795	missense	probably benign	0.16
R7276:Myo1d	UTSW	11	80693072	missense	probably damaging	1.00
R7467:Myo1d	UTSW	11	80586917	missense	probably damaging	1.00
R7650:Myo1d	UTSW	11	80601684	missense	probably benign
R7678:Myo1d	UTSW	11	80676893	missense	possibly damaging	0.80
R7859:Myo1d	UTSW	11	80684377	missense	probably damaging	1.00
R8324:Myo1d	UTSW	11	80557521	missense	probably damaging	1.00
R8329:Myo1d	UTSW	11	80638074	missense	probably benign	0.21
R8799:Myo1d	UTSW	11	80684379	missense	probably damaging	1.00
R8810:Myo1d	UTSW	11	80674932	missense	probably damaging	1.00
R8810:Myo1d	UTSW	11	80676932	missense	probably benign	0.30
R8823:Myo1d	UTSW	11	80601745	missense	possibly damaging	0.91
R9221:Myo1d	UTSW	11	80674918	missense	probably damaging	1.00
R9494:Myo1d	UTSW	11	80484267	missense	probably benign	0.02
R9625:Myo1d	UTSW	11	80557470	missense	possibly damaging	0.95
R9626:Myo1d	UTSW	11	80557470	missense	possibly damaging	0.95
R9628:Myo1d	UTSW	11	80557470	missense	possibly damaging	0.95
Z1088:Myo1d	UTSW	11	80674898	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCACTGTATCAGAGAAGCAG -3'
(R):5'- GGACACCTATGTGCTTGCTTG -3'

Sequencing Primer
(F):5'- TGTATCAGAGAAGCAGAACTCAC -3'
(R):5'- ACACCTATGTGCTTGCTTGTTGAG -3'

Posted On

2021-01-18