Mutagenetix > Incidental Mutation

Incidental Mutation 'R8823:Myo1d'

673290

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 #

R8823 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80482126-80780025 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80601745 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 728 (I728N)

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: I728N

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: I728N

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: I728N

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: I728N

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

Meta Mutation Damage Score

0.4612

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	T	A	8: 40,680,189	I232K	probably benign	Het
Ap5z1	T	C	5: 142,474,436	L506P	probably benign	Het
Ceacam20	A	T	7: 19,971,504	Y140F	probably damaging	Het
Chfr	G	A	5: 110,152,392	R334H	probably damaging	Het
Emx2	A	G	19: 59,459,448	H78R	probably damaging	Het
Etnppl	G	A	3: 130,626,546	G204R	probably damaging	Het
Fah	A	G	7: 84,605,717	F3L	possibly damaging	Het
Galnt12	G	T	4: 47,091,928		probably benign	Het
Gbx1	A	G	5: 24,505,053	S265P	probably damaging	Het
Gm17087	A	G	17: 8,566,401	*157R	probably null	Het
Gm5426	A	T	10: 96,136,771	I57F	possibly damaging	Het
Grin2a	T	A	16: 9,669,894	N380I	possibly damaging	Het
Grip1	C	T	10: 119,975,951	T269I		Het
Hace1	T	C	10: 45,648,860	Y241H	probably damaging	Het
Hrc	A	G	7: 45,336,298	D291G	possibly damaging	Het
Ifi208	A	G	1: 173,683,536	Y419C	probably damaging	Het
Ighv8-5	A	G	12: 115,067,647	S91P	probably damaging	Het
Igkv15-103	T	C	6: 68,437,871	L98P	probably damaging	Het
Igsf5	C	T	16: 96,421,739	S61L	possibly damaging	Het
Ipo9	A	G	1: 135,419,339	W138R	probably damaging	Het
Kank4	A	T	4: 98,780,003	L69Q	probably damaging	Het
Kcnd3	T	C	3: 105,667,014	I505T	probably benign	Het
Lrtm2	T	A	6: 119,317,232	I313F	probably damaging	Het
Mug2	A	T	6: 122,063,689	I733F	possibly damaging	Het
Myh2	A	T	11: 67,185,474	R800S	probably damaging	Het
Olfr519	A	G	7: 108,893,948	I158T	probably benign	Het
Pdcd1	T	C	1: 94,041,495	R33G	probably benign	Het
Polr1b	T	C	2: 129,125,537	F950S	probably damaging	Het
Prpf8	T	A	11: 75,493,456	M697K	probably benign	Het
Psmc2	T	A	5: 21,800,576	D218E	probably damaging	Het
Ptpn12	A	G	5: 20,998,623	Y386H	probably damaging	Het
Rilpl2	C	T	5: 124,468,653	R166K	possibly damaging	Het
Rtn4	T	A	11: 29,706,609	N254K	probably benign	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Sesn3	T	A	9: 14,310,240		probably benign	Het
Slc35b2	T	A	17: 45,566,968	H291Q	probably damaging	Het
Slc38a3	A	C	9: 107,655,951	Y308D	probably damaging	Het
Snrpd2	T	C	7: 19,152,610	V106A	probably benign	Het
Sybu	C	A	15: 44,677,602	A355S	possibly damaging	Het
Tes3-ps	A	T	13: 49,494,216	R189S	probably benign	Het
Trmo	T	C	4: 46,382,604	D164G	probably damaging	Het
Vmn1r225	A	G	17: 20,502,561	Q88R	probably benign	Het
Xkr9	T	C	1: 13,672,608	V39A	probably benign	Het
Xpo1	A	T	11: 23,267,752	M73L	probably benign	Het
Zbtb21	G	A	16: 97,951,316	T589I	probably damaging	Het
Zbtb41	A	G	1: 139,423,154	K2E	probably damaging	Het
Zfp105	A	G	9: 122,930,503	K413R	possibly damaging	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
R8474:Myo1d	UTSW	11	80670919	missense	possibly damaging	0.93
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
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'- AGGATTTGGGAGCATGCCAC -3'
(R):5'- ATTTTCACTGCAATCAGGTTACCAG -3'

Sequencing Primer
(F):5'- CTGGATAGGAAATGTGGCACTTGC -3'
(R):5'- AGGTTACCAGCTGAGCTTG -3'

Posted On

2021-07-15