Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00850:Myo1h'

12176

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myo1h

Ensembl Gene

ENSMUSG00000066952

Gene Name

myosin 1H

Synonyms

4631401O15Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00850

Quality Score

Status

Chromosome

Chromosomal Location

114427314-114502637 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 114453132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124316] [ENSMUST00000169347] [ENSMUST00000202006]

AlphaFold

Q9D6A1

Predicted Effect

probably benign
Transcript: ENSMUST00000124316

SMART Domains

Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952

Domain	Start	End	E-Value	Type
MYSc	5	692	N/A	SMART
IQ	693	715	1.21e1	SMART
IQ	716	738	6.6e-2	SMART
Pfam:Myosin_TH1	833	1015	5.8e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169347

SMART Domains

Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952

Domain	Start	End	E-Value	Type
MYSc	5	692	N/A	SMART
IQ	693	715	1.21e1	SMART
IQ	716	738	6.6e-2	SMART
Pfam:Myosin_TH1	834	1013	2.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202006

SMART Domains

Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952

Domain	Start	End	E-Value	Type
MYSc	5	692	N/A	SMART
IQ	693	715	1.21e1	SMART
IQ	716	738	6.6e-2	SMART
Pfam:Myosin_TH1	834	1013	2.3e-28	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand1	C	A	10: 119,047,040 (GRCm39)	V817L	probably benign	Het
Cdc16	T	G	8: 13,817,575 (GRCm39)	Y295*	probably null	Het
Cdk12	T	A	11: 98,113,491 (GRCm39)	N758K	unknown	Het
Cep295	A	G	9: 15,234,148 (GRCm39)	L2216S	probably benign	Het
Chpf2	A	G	5: 24,797,259 (GRCm39)	E735G	probably damaging	Het
Chrdl2	A	G	7: 99,683,848 (GRCm39)	T432A	probably damaging	Het
Cyp4a12b	T	A	4: 115,295,246 (GRCm39)		probably null	Het
D130043K22Rik	T	G	13: 25,051,157 (GRCm39)	D464E	probably damaging	Het
Dst	G	T	1: 34,345,705 (GRCm39)	A7622S	probably damaging	Het
Fdx1	A	T	9: 51,859,949 (GRCm39)	I127N	probably damaging	Het
Fem1a	A	G	17: 56,565,355 (GRCm39)	I483V	possibly damaging	Het
Gcc2	C	A	10: 58,094,070 (GRCm39)	D51E	probably benign	Het
Glrb	A	G	3: 80,769,088 (GRCm39)	S178P	probably damaging	Het
Inpp4b	A	G	8: 82,583,379 (GRCm39)	Q161R	probably damaging	Het
Lrrc45	T	C	11: 120,611,436 (GRCm39)		probably benign	Het
Myh3	T	C	11: 66,981,681 (GRCm39)	Y757H	probably damaging	Het
Nudt13	T	A	14: 20,356,418 (GRCm39)	S114R	probably damaging	Het
Omg	T	C	11: 79,393,540 (GRCm39)	N106S	possibly damaging	Het
Pbrm1	T	C	14: 30,809,576 (GRCm39)	V1163A	probably damaging	Het
Pi4k2b	T	A	5: 52,918,292 (GRCm39)	Y350*	probably null	Het
Prr29	C	A	11: 106,266,033 (GRCm39)	T32K	possibly damaging	Het
Psd4	C	T	2: 24,284,298 (GRCm39)	A54V	probably benign	Het
Scd3	A	G	19: 44,224,247 (GRCm39)	H160R	probably damaging	Het
Shroom3	T	C	5: 93,098,924 (GRCm39)	L1387P	probably damaging	Het
Stk35	A	G	2: 129,643,912 (GRCm39)	T299A	probably damaging	Het
Thsd7b	G	A	1: 130,092,814 (GRCm39)	S1238N	probably benign	Het
Utp11	T	C	4: 124,576,250 (GRCm39)	K131R	probably benign	Het
Vps50	C	T	6: 3,532,177 (GRCm39)	Q227*	probably null	Het
Zan	T	C	5: 137,462,375 (GRCm39)	T935A	unknown	Het

Other mutations in Myo1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Myo1h	APN	5	114,498,546 (GRCm39)	missense	probably damaging	1.00
IGL01022:Myo1h	APN	5	114,474,361 (GRCm39)	missense	possibly damaging	0.67
IGL01364:Myo1h	APN	5	114,486,500 (GRCm39)	missense	probably damaging	1.00
IGL01469:Myo1h	APN	5	114,499,330 (GRCm39)	missense	probably damaging	1.00
IGL01626:Myo1h	APN	5	114,453,027 (GRCm39)	missense	probably damaging	1.00
IGL02026:Myo1h	APN	5	114,461,505 (GRCm39)	missense	probably null	0.07
IGL02156:Myo1h	APN	5	114,491,972 (GRCm39)	splice site	probably benign
IGL02164:Myo1h	APN	5	114,472,157 (GRCm39)	missense	probably damaging	1.00
IGL02429:Myo1h	APN	5	114,497,799 (GRCm39)	splice site	probably benign
IGL02562:Myo1h	APN	5	114,496,053 (GRCm39)	missense	probably benign	0.06
IGL02938:Myo1h	APN	5	114,497,000 (GRCm39)	missense	probably damaging	1.00
R0056:Myo1h	UTSW	5	114,468,273 (GRCm39)	missense	probably damaging	1.00
R0172:Myo1h	UTSW	5	114,467,225 (GRCm39)	splice site	probably null
R0346:Myo1h	UTSW	5	114,493,270 (GRCm39)	missense	probably benign	0.19
R0464:Myo1h	UTSW	5	114,498,571 (GRCm39)	missense	probably damaging	1.00
R0556:Myo1h	UTSW	5	114,457,852 (GRCm39)	missense	probably damaging	1.00
R0723:Myo1h	UTSW	5	114,457,741 (GRCm39)	missense	probably benign	0.20
R0751:Myo1h	UTSW	5	114,458,747 (GRCm39)	missense	probably damaging	1.00
R1470:Myo1h	UTSW	5	114,457,765 (GRCm39)	missense	probably damaging	0.99
R1470:Myo1h	UTSW	5	114,457,765 (GRCm39)	missense	probably damaging	0.99
R1579:Myo1h	UTSW	5	114,485,496 (GRCm39)	nonsense	probably null
R1646:Myo1h	UTSW	5	114,455,693 (GRCm39)	missense	possibly damaging	0.90
R1648:Myo1h	UTSW	5	114,474,336 (GRCm39)	missense	probably damaging	1.00
R1981:Myo1h	UTSW	5	114,491,898 (GRCm39)	missense	probably damaging	1.00
R2006:Myo1h	UTSW	5	114,499,140 (GRCm39)	missense	probably damaging	1.00
R2697:Myo1h	UTSW	5	114,493,274 (GRCm39)	missense	probably damaging	1.00
R3124:Myo1h	UTSW	5	114,466,860 (GRCm39)	missense	probably benign	0.04
R3195:Myo1h	UTSW	5	114,466,801 (GRCm39)	missense	probably benign
R4255:Myo1h	UTSW	5	114,468,198 (GRCm39)	missense	possibly damaging	0.89
R4613:Myo1h	UTSW	5	114,489,737 (GRCm39)	missense	probably benign	0.02
R4613:Myo1h	UTSW	5	114,486,440 (GRCm39)	missense	possibly damaging	0.73
R4758:Myo1h	UTSW	5	114,487,643 (GRCm39)	missense	probably damaging	1.00
R4784:Myo1h	UTSW	5	114,498,660 (GRCm39)	missense	possibly damaging	0.46
R4785:Myo1h	UTSW	5	114,498,660 (GRCm39)	missense	possibly damaging	0.46
R5511:Myo1h	UTSW	5	114,483,958 (GRCm39)	nonsense	probably null
R5663:Myo1h	UTSW	5	114,472,155 (GRCm39)	missense	probably damaging	1.00
R6186:Myo1h	UTSW	5	114,457,864 (GRCm39)	missense	possibly damaging	0.90
R6243:Myo1h	UTSW	5	114,500,208 (GRCm39)	missense	probably damaging	1.00
R6344:Myo1h	UTSW	5	114,466,776 (GRCm39)	missense	probably damaging	1.00
R6345:Myo1h	UTSW	5	114,489,769 (GRCm39)	missense	probably damaging	1.00
R6383:Myo1h	UTSW	5	114,474,325 (GRCm39)	missense	probably damaging	1.00
R6444:Myo1h	UTSW	5	114,453,017 (GRCm39)	missense	possibly damaging	0.63
R6787:Myo1h	UTSW	5	114,458,714 (GRCm39)	missense	probably damaging	1.00
R6891:Myo1h	UTSW	5	114,487,673 (GRCm39)	missense	probably damaging	1.00
R6990:Myo1h	UTSW	5	114,468,221 (GRCm39)	missense	probably damaging	0.97
R7040:Myo1h	UTSW	5	114,497,805 (GRCm39)	missense	possibly damaging	0.67
R7101:Myo1h	UTSW	5	114,480,258 (GRCm39)	missense
R7121:Myo1h	UTSW	5	114,476,290 (GRCm39)	missense
R7206:Myo1h	UTSW	5	114,457,836 (GRCm39)	nonsense	probably null
R7222:Myo1h	UTSW	5	114,493,322 (GRCm39)	critical splice donor site	probably null
R7838:Myo1h	UTSW	5	114,466,872 (GRCm39)	splice site	probably null
R7896:Myo1h	UTSW	5	114,474,372 (GRCm39)	splice site	probably null
R8004:Myo1h	UTSW	5	114,458,769 (GRCm39)	missense
R8323:Myo1h	UTSW	5	114,480,200 (GRCm39)	missense
R8874:Myo1h	UTSW	5	114,472,163 (GRCm39)	missense
R8945:Myo1h	UTSW	5	114,470,784 (GRCm39)	missense	probably damaging	1.00
R9432:Myo1h	UTSW	5	114,499,366 (GRCm39)	missense	possibly damaging	0.92
R9518:Myo1h	UTSW	5	114,497,588 (GRCm39)	missense	probably damaging	0.99
R9527:Myo1h	UTSW	5	114,453,098 (GRCm39)	missense
R9548:Myo1h	UTSW	5	114,499,154 (GRCm39)	missense	probably benign	0.16
R9687:Myo1h	UTSW	5	114,458,769 (GRCm39)	missense
R9803:Myo1h	UTSW	5	114,483,997 (GRCm39)	missense
Z1177:Myo1h	UTSW	5	114,472,217 (GRCm39)	missense

Posted On

2012-12-06