Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01087:Myo1d'

52259

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo1d

Ensembl Gene

ENSMUSG00000035441

Gene Name

myosin ID

Synonyms

9930104H07Rik, D11Ertd9e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01087

Quality Score

Status

Chromosome

Chromosomal Location

80482126-80780025 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80682435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 189 (S189P)

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: S189P

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

SMART Domains

Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: S189P

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: S189P

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

SMART Domains

Protein: ENSMUSP00000066948
Gene: ENSMUSG00000035441
AA Change: S189P

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,162,788		probably null	Het
Abca6	C	A	11: 110,191,650	A1166S	probably benign	Het
Arhgdib	C	A	6: 136,933,624	K46N	probably damaging	Het
Ash1l	T	A	3: 89,063,902	V2507D	probably damaging	Het
B4galnt1	A	T	10: 127,166,191	I63F	probably damaging	Het
Bclaf1	A	G	10: 20,325,310	D394G	probably damaging	Het
Btbd10	T	C	7: 113,316,556	D442G	probably damaging	Het
Cd44	A	T	2: 102,822,262	L492H	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Chsy1	T	G	7: 66,172,126	V703G	possibly damaging	Het
Clrn2	T	C	5: 45,463,969		probably benign	Het
Crtc3	T	C	7: 80,598,739		probably benign	Het
Cul1	A	G	6: 47,509,044	T342A	probably benign	Het
Dgki	T	C	6: 37,012,911	D631G	probably damaging	Het
Eif3b	T	C	5: 140,441,107	I706T	probably damaging	Het
Fam120a	A	G	13: 48,902,073	L713P	probably damaging	Het
I830077J02Rik	C	A	3: 105,928,733		probably null	Het
Jmjd8	A	C	17: 25,829,171		probably benign	Het
Kmt5a	T	C	5: 124,451,380		probably benign	Het
Krt87	C	A	15: 101,431,825	C486F	probably benign	Het
Lrp2	A	T	2: 69,524,073	N470K	probably damaging	Het
Med1	C	A	11: 98,180,285	D79Y	probably damaging	Het
Myo9a	T	A	9: 59,790,078	Y381N	possibly damaging	Het
Nipbl	C	A	15: 8,350,497	S937I	possibly damaging	Het
Nlrp4g	A	G	9: 124,353,858		noncoding transcript	Het
Nutm2	A	G	13: 50,469,629	T121A	probably damaging	Het
Olfr93	C	T	17: 37,151,441	C177Y	probably damaging	Het
Opa1	C	T	16: 29,586,997	P127S	probably damaging	Het
Pcdh15	A	T	10: 74,342,632	I574F	possibly damaging	Het
Pcnx	G	A	12: 81,995,339		probably benign	Het
Prex2	A	G	1: 11,068,104	T136A	probably benign	Het
Prph2	A	G	17: 46,911,159	T155A	probably damaging	Het
Rsl1d1	T	C	16: 11,194,675	K296E	possibly damaging	Het
Syne1	A	T	10: 5,425,708	I128N	probably damaging	Het
Tlk1	A	T	2: 70,752,316	N156K	possibly damaging	Het
Trem2	C	T	17: 48,351,928	T222I	probably damaging	Het
Trip12	A	T	1: 84,757,859	F872L	probably damaging	Het
Trrap	T	A	5: 144,846,539	S3393T	probably damaging	Het
Vwa8	T	A	14: 78,935,229	S304T	probably benign	Het
Zc3h7a	T	C	16: 11,153,182	T328A	probably benign	Het

Other mutations in Myo1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Myo1d	APN	11	80601740	missense	probably benign
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
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

Posted On

2013-06-21