Mutagenetix > Incidental Mutation

Incidental Mutation 'R1646:Myo1h'

173872

Institutional Source

Beutler Lab

Gene Symbol

Myo1h

Ensembl Gene

ENSMUSG00000066952

Gene Name

myosin 1H

Synonyms

4631401O15Rik

MMRRC Submission

039682-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1646 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114289166-114365357 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114317632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 59 (G59E)

Ref Sequence

ENSEMBL: ENSMUSP00000144110 (fasta)

Gene Model

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

AlphaFold

Q9D6A1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124316
AA Change: G59E

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: G59E

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: G75E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: G75E

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

possibly damaging
Transcript: ENSMUST00000202006
AA Change: G59E

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: G59E

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

0.0766

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.8%

Validation Efficiency

96% (69/72)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	T	3: 108,462,990	S751T	probably damaging	Het
Akna	T	G	4: 63,383,892	I581L	probably benign	Het
Cacnb4	A	G	2: 52,474,900	I117T	possibly damaging	Het
Capn1	A	T	19: 5,997,730	F434L	probably benign	Het
Cbs	T	C	17: 31,613,195	T547A	probably benign	Het
Col6a5	A	T	9: 105,862,749	L2557*	probably null	Het
D17Wsu92e	A	G	17: 27,793,960	S88P	probably damaging	Het
D1Ertd622e	A	T	1: 97,645,806	I178N	probably damaging	Het
Dach1	A	G	14: 98,169,114	S66P	unknown	Het
Ddx31	T	C	2: 28,892,520	V625A	probably benign	Het
Dmxl1	T	G	18: 49,962,261	V2969G	probably damaging	Het
Eapp	T	A	12: 54,685,960	K122*	probably null	Het
Epb41l5	G	T	1: 119,550,022		probably benign	Het
Fat1	T	C	8: 45,018,042	S1628P	probably damaging	Het
Fgfr2	T	A	7: 130,242,644	E37V	probably damaging	Het
Fgfr4	A	T	13: 55,165,964	N529Y	probably damaging	Het
Fsip2	A	T	2: 82,978,517	T1727S	probably benign	Het
Gak	A	T	5: 108,602,854	S397T	probably damaging	Het
Gm6040	T	A	8: 20,917,097	I36F	possibly damaging	Het
Grhl1	A	G	12: 24,611,861	D513G	possibly damaging	Het
Gstt1	T	A	10: 75,784,106	D219V	possibly damaging	Het
Hcfc2	T	G	10: 82,701,027	V91G	probably damaging	Het
Hells	A	T	19: 38,967,783	I808L	probably benign	Het
Icmt	T	A	4: 152,299,715	V110E	possibly damaging	Het
Iqca	C	T	1: 90,140,038	V164M	probably damaging	Het
Klri1	G	A	6: 129,703,336	P119S	probably benign	Het
Krt71	C	A	15: 101,738,764		probably null	Het
Lpin1	A	G	12: 16,573,658		probably null	Het
Metap2	T	C	10: 93,870,197	H241R	probably damaging	Het
Myh15	A	G	16: 49,195,568	Y1869C	probably damaging	Het
Ncam2	T	G	16: 81,465,706		probably benign	Het
Npat	T	C	9: 53,555,134	V241A	probably benign	Het
Npbwr1	C	A	1: 5,917,254	V14L	probably benign	Het
Nup37	T	A	10: 88,178,234	V323E	possibly damaging	Het
Olfr1036	A	G	2: 86,075,616	N292S	probably damaging	Het
Olfr1351	C	A	10: 79,017,506	Y61*	probably null	Het
Olfr483	C	T	7: 108,103,591	T94I	probably benign	Het
Olfr743	A	T	14: 50,533,583	Q57L	probably benign	Het
Pdlim4	A	T	11: 54,056,254	L132Q	possibly damaging	Het
Ptcd3	T	C	6: 71,898,395	D201G	probably benign	Het
Ptk7	A	T	17: 46,586,297	F370I	probably benign	Het
Pus7l	T	C	15: 94,533,636	N371D	probably benign	Het
Pzp	G	A	6: 128,503,555	A589V	probably benign	Het
Rasef	T	A	4: 73,734,549	R572W	probably damaging	Het
Reep5	T	C	18: 34,349,659	T166A	probably benign	Het
Rhov	A	G	2: 119,271,020	V35A	probably damaging	Het
Ripk4	C	T	16: 97,743,897	G517R	probably damaging	Het
Rnasel	A	G	1: 153,755,054	T439A	probably damaging	Het
Slamf9	A	G	1: 172,477,340	T174A	probably benign	Het
Slc12a9	A	G	5: 137,323,149	L414P	probably damaging	Het
Slf1	G	A	13: 77,066,648	R640*	probably null	Het
Slfn8	G	T	11: 83,016,886	P277Q	probably damaging	Het
Stpg2	T	A	3: 139,419,702		probably benign	Het
Tm9sf3	A	C	19: 41,223,179	N408K	possibly damaging	Het
Trio	A	G	15: 27,758,347	V2049A	possibly damaging	Het
Ttn	A	T	2: 76,814,733	I11180N	probably damaging	Het
Ush2a	T	C	1: 188,415,821	C982R	probably damaging	Het
Usp36	C	T	11: 118,273,566	V207M	probably damaging	Het
Uvrag	T	C	7: 99,118,224	T67A	probably damaging	Het
Vasp	G	A	7: 19,260,978		probably benign	Het
Vmn2r115	T	C	17: 23,359,539	F662S	probably damaging	Het
Vmn2r54	A	T	7: 12,632,507	C167S	probably damaging	Het
Vmn2r71	C	A	7: 85,621,268	N547K	probably damaging	Het
Wasf2	A	G	4: 133,176,591	I37V	probably benign	Het
Wwc2	T	C	8: 47,842,902	E1111G	unknown	Het
Zfp317	A	G	9: 19,647,312	Y274C	probably damaging	Het
Zhx3	T	C	2: 160,781,275	Y324C	probably damaging	Het
Zzef1	T	C	11: 72,864,036		probably null	Het

Other mutations in Myo1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Myo1h	APN	5	114315071	splice site	probably benign
IGL00922:Myo1h	APN	5	114360485	missense	probably damaging	1.00
IGL01022:Myo1h	APN	5	114336300	missense	possibly damaging	0.67
IGL01364:Myo1h	APN	5	114348439	missense	probably damaging	1.00
IGL01469:Myo1h	APN	5	114361269	missense	probably damaging	1.00
IGL01626:Myo1h	APN	5	114314966	missense	probably damaging	1.00
IGL02026:Myo1h	APN	5	114323444	missense	probably null	0.07
IGL02156:Myo1h	APN	5	114353911	splice site	probably benign
IGL02164:Myo1h	APN	5	114334096	missense	probably damaging	1.00
IGL02429:Myo1h	APN	5	114359738	splice site	probably benign
IGL02562:Myo1h	APN	5	114357992	missense	probably benign	0.06
IGL02938:Myo1h	APN	5	114358939	missense	probably damaging	1.00
R0056:Myo1h	UTSW	5	114330212	missense	probably damaging	1.00
R0172:Myo1h	UTSW	5	114329164	splice site	probably null
R0346:Myo1h	UTSW	5	114355209	missense	probably benign	0.19
R0464:Myo1h	UTSW	5	114360510	missense	probably damaging	1.00
R0556:Myo1h	UTSW	5	114319791	missense	probably damaging	1.00
R0723:Myo1h	UTSW	5	114319680	missense	probably benign	0.20
R0751:Myo1h	UTSW	5	114320686	missense	probably damaging	1.00
R1470:Myo1h	UTSW	5	114319704	missense	probably damaging	0.99
R1470:Myo1h	UTSW	5	114319704	missense	probably damaging	0.99
R1579:Myo1h	UTSW	5	114347435	nonsense	probably null
R1648:Myo1h	UTSW	5	114336275	missense	probably damaging	1.00
R1981:Myo1h	UTSW	5	114353837	missense	probably damaging	1.00
R2006:Myo1h	UTSW	5	114361079	missense	probably damaging	1.00
R2697:Myo1h	UTSW	5	114355213	missense	probably damaging	1.00
R3124:Myo1h	UTSW	5	114328799	missense	probably benign	0.04
R3195:Myo1h	UTSW	5	114328740	missense	probably benign
R4255:Myo1h	UTSW	5	114330137	missense	possibly damaging	0.89
R4613:Myo1h	UTSW	5	114348379	missense	possibly damaging	0.73
R4613:Myo1h	UTSW	5	114351676	missense	probably benign	0.02
R4758:Myo1h	UTSW	5	114349582	missense	probably damaging	1.00
R4784:Myo1h	UTSW	5	114360599	missense	possibly damaging	0.46
R4785:Myo1h	UTSW	5	114360599	missense	possibly damaging	0.46
R5511:Myo1h	UTSW	5	114345897	nonsense	probably null
R5663:Myo1h	UTSW	5	114334094	missense	probably damaging	1.00
R6186:Myo1h	UTSW	5	114319803	missense	possibly damaging	0.90
R6243:Myo1h	UTSW	5	114362147	missense	probably damaging	1.00
R6344:Myo1h	UTSW	5	114328715	missense	probably damaging	1.00
R6345:Myo1h	UTSW	5	114351708	missense	probably damaging	1.00
R6383:Myo1h	UTSW	5	114336264	missense	probably damaging	1.00
R6444:Myo1h	UTSW	5	114314956	missense	possibly damaging	0.63
R6787:Myo1h	UTSW	5	114320653	missense	probably damaging	1.00
R6891:Myo1h	UTSW	5	114349612	missense	probably damaging	1.00
R6990:Myo1h	UTSW	5	114330160	missense	probably damaging	0.97
R7040:Myo1h	UTSW	5	114359744	missense	possibly damaging	0.67
R7101:Myo1h	UTSW	5	114342197	missense
R7121:Myo1h	UTSW	5	114338229	missense
R7206:Myo1h	UTSW	5	114319775	nonsense	probably null
R7222:Myo1h	UTSW	5	114355261	critical splice donor site	probably null
R7838:Myo1h	UTSW	5	114328811	splice site	probably null
R7896:Myo1h	UTSW	5	114336311	splice site	probably null
R8004:Myo1h	UTSW	5	114320708	missense
R8323:Myo1h	UTSW	5	114342139	missense
R8874:Myo1h	UTSW	5	114334102	missense
R8945:Myo1h	UTSW	5	114332723	missense	probably damaging	1.00
R9432:Myo1h	UTSW	5	114361305	missense	possibly damaging	0.92
R9518:Myo1h	UTSW	5	114359527	missense	probably damaging	0.99
R9527:Myo1h	UTSW	5	114315037	missense
R9548:Myo1h	UTSW	5	114361093	missense	probably benign	0.16
R9687:Myo1h	UTSW	5	114320708	missense
R9803:Myo1h	UTSW	5	114345936	missense
Z1177:Myo1h	UTSW	5	114334156	missense

Predicted Primers

PCR Primer
(F):5'- AGTCTTGTGCCTAAGCTGCCTGTC -3'
(R):5'- AACGGAAATTGGACCTGACTGGATG -3'

Sequencing Primer
(F):5'- CTTCCTCTCGGCAGAGTG -3'
(R):5'- AAATTGGACCTGACTGGATGGTATG -3'

Posted On

2014-04-24