Mutagenetix > Incidental Mutation

Incidental Mutation 'R3124:Myo1h'

264190

Institutional Source

Beutler Lab

Gene Symbol

Myo1h

Ensembl Gene

ENSMUSG00000066952

Gene Name

myosin 1H

Synonyms

4631401O15Rik

MMRRC Submission

040597-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3124 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114427314-114502637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114466860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 303 (I303V)

Ref Sequence

ENSEMBL: ENSMUSP00000144110 (fasta)

Gene Model

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

AlphaFold

Q9D6A1

Predicted Effect

probably benign
Transcript: ENSMUST00000124316
AA Change: I303V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: I303V

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
AA Change: I319V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: I319V

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
AA Change: I303V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: I303V

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

Meta Mutation Damage Score

0.0818

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	G	A	2: 181,136,319 (GRCm39)	R407H	possibly damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Cadm1	A	G	9: 47,710,775 (GRCm39)	E226G	possibly damaging	Het
Caskin2	T	C	11: 115,695,623 (GRCm39)	D246G	probably damaging	Het
Cd80	T	A	16: 38,294,255 (GRCm39)	V46E	probably damaging	Het
Ctr9	C	T	7: 110,652,653 (GRCm39)	R984C	unknown	Het
Dach2	T	C	X: 112,729,664 (GRCm39)	I417T	possibly damaging	Het
Dcaf8l	A	T	X: 88,448,327 (GRCm39)	Y601N	probably benign	Het
Drd3	T	C	16: 43,643,155 (GRCm39)	F464L	probably damaging	Het
Dyrk1a	G	A	16: 94,469,660 (GRCm39)		probably benign	Het
Fam227b	T	C	2: 125,966,006 (GRCm39)	T140A	probably benign	Het
Fam91a1	A	G	15: 58,293,738 (GRCm39)	I101V	probably benign	Het
Fem1b	T	C	9: 62,703,836 (GRCm39)	I475V	probably benign	Het
Glra3	A	G	8: 56,578,244 (GRCm39)	R434G	possibly damaging	Het
Hsd17b12	C	T	2: 93,864,303 (GRCm39)	R268Q	probably benign	Het
Iglc3	T	C	16: 18,884,345 (GRCm39)		probably benign	Het
Khdrbs2	C	A	1: 32,558,858 (GRCm39)	R408L	probably damaging	Het
Loxhd1	A	G	18: 77,518,774 (GRCm39)	D1860G	probably damaging	Het
Mcpt8	A	T	14: 56,321,398 (GRCm39)	I22K	probably damaging	Het
Nipsnap2	G	A	5: 129,825,098 (GRCm39)		probably null	Het
Nop2	G	A	6: 125,109,164 (GRCm39)		probably benign	Het
Polr2a	A	T	11: 69,626,536 (GRCm39)	S1566T	possibly damaging	Het
Pthlh	A	T	6: 147,164,789 (GRCm39)	V27E	probably damaging	Het
Ralgps1	T	C	2: 33,048,968 (GRCm39)	T314A	possibly damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Skil	A	G	3: 31,151,487 (GRCm39)	N3S	probably benign	Het
Tas2r129	A	G	6: 132,928,411 (GRCm39)	N116S	probably damaging	Het
Tas2r140	T	A	6: 133,032,204 (GRCm39)	I185L	probably benign	Het
Tnpo1	GCACCTCTGCTTCCTC	GCACCTCTGCTTCCTCACCTCTGCTTCCTC	13: 99,003,637 (GRCm39)		probably null	Het
Togaram1	G	T	12: 65,013,118 (GRCm39)	R123L	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim12a	G	T	7: 103,950,063 (GRCm39)	T292K	probably benign	Het
Trim9	C	T	12: 70,295,167 (GRCm39)	G648R	probably damaging	Het
Trmt13	T	C	3: 116,383,893 (GRCm39)	I104V	probably benign	Het
Vav3	G	A	3: 109,535,484 (GRCm39)		probably null	Het
Vmn1r87	A	G	7: 12,865,493 (GRCm39)	Y265H	probably damaging	Het
Zfp574	G	T	7: 24,781,026 (GRCm39)	A683S	possibly damaging	Het

Other mutations in Myo1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Myo1h	APN	5	114,453,132 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CCAATTGTCAAGGAGGTGGTGC -3'
(R):5'- CCTCACTGCTGTGCTTTAGG -3'

Sequencing Primer
(F):5'- TCAAGGAGGTGGTGCTGACC -3'
(R):5'- GCACCCAGGATGATTGCAAGTTC -3'

Posted On

2015-02-05