Mutagenetix > Incidental Mutation

Incidental Mutation 'R1470:Myo1h'

165792

Institutional Source

Beutler Lab

Gene Symbol

Myo1h

Ensembl Gene

ENSMUSG00000066952

Gene Name

myosin 1H

Synonyms

4631401O15Rik

MMRRC Submission

039523-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1470 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

114289166-114365357 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114319704 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 92 (M92K)

Ref Sequence

ENSEMBL: ENSMUSP00000118824 (fasta)

Gene Model

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

AlphaFold

Q9D6A1

Predicted Effect

probably damaging
Transcript: ENSMUST00000124316
AA Change: M92K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: M92K

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 damaging
Transcript: ENSMUST00000169347
AA Change: M108K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: M108K

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: M92K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: M92K

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

0.6878

Coding Region Coverage

1x: 99.7%
3x: 98.4%
10x: 90.6%
20x: 68.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,998,331	M3060T	probably benign	Het
Aak1	T	A	6: 86,967,355	S749T	unknown	Het
Abcb4	A	T	5: 8,940,968	I843F	probably damaging	Het
Actr8	T	A	14: 29,986,969	H244Q	possibly damaging	Het
Adgrv1	A	G	13: 81,382,298	Y5886H	probably benign	Het
Agk	T	A	6: 40,386,817	W244R	probably damaging	Het
Ankrd11	C	A	8: 122,899,724	V161L	probably damaging	Het
Arap3	T	C	18: 37,989,196		probably null	Het
Armc3	A	G	2: 19,238,736	M88V	probably benign	Het
Atp13a5	G	T	16: 29,349,015	P109T	probably benign	Het
Avpr1b	T	A	1: 131,600,585	V282D	probably damaging	Het
Baz2b	T	C	2: 59,978,546	K120E	possibly damaging	Het
Cacng6	G	A	7: 3,424,888	C76Y	probably damaging	Het
Cactin	G	T	10: 81,323,151	E279*	probably null	Het
Car9	A	G	4: 43,510,222	Y268C	probably damaging	Het
Ccdc146	T	A	5: 21,319,566	I263F	probably damaging	Het
Cdh16	T	G	8: 104,618,371	S429R	probably benign	Het
Cep250	A	G	2: 155,991,075	E1639G	probably damaging	Het
Ces1d	A	T	8: 93,195,021	V38D	possibly damaging	Het
Chd1	A	T	17: 15,726,283	Q97L	possibly damaging	Het
Ciita	G	A	16: 10,514,468	D898N	possibly damaging	Het
Clstn1	A	G	4: 149,634,722	N336S	possibly damaging	Het
Cntnap5a	A	G	1: 116,259,519	D607G	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col20a1	C	T	2: 180,994,960	H245Y	probably benign	Het
Coq8b	A	T	7: 27,252,309	T399S	probably benign	Het
Cpn2	A	G	16: 30,260,185	S233P	probably benign	Het
Cryz	G	A	3: 154,606,476	G70D	probably damaging	Het
Def6	T	A	17: 28,225,982	D451E	possibly damaging	Het
Dnah8	T	A	17: 30,747,277	C2480*	probably null	Het
Dnah9	T	C	11: 65,927,822	N3230S	probably benign	Het
Dyrk4	G	T	6: 126,916,374	S15*	probably null	Het
Erc1	T	C	6: 119,694,602	R917G	probably damaging	Het
Frem3	G	T	8: 80,611,191	V38L	probably benign	Het
Gas2l3	T	C	10: 89,413,934	I441V	probably benign	Het
Gm14393	T	A	2: 175,063,981	Y6F	probably damaging	Het
Gm1527	A	G	3: 28,915,268	K256E	possibly damaging	Het
Gm21905	G	T	5: 67,946,397		probably benign	Het
Gtf2ird1	T	A	5: 134,395,802		probably null	Het
Hmces	C	A	6: 87,936,139	T292K	probably benign	Het
Hpse2	G	A	19: 43,388,253	S20L	probably benign	Het
Ikbke	A	T	1: 131,276,487	V23E	probably null	Het
Ino80	A	T	2: 119,379,649	V1387E	probably damaging	Het
Islr	G	T	9: 58,157,306	A306D	probably damaging	Het
Jakmip1	G	A	5: 37,100,838	G276D	probably damaging	Het
Jchain	A	G	5: 88,526,120	V55A	probably benign	Het
Kalrn	T	C	16: 34,187,471	K1350E	probably damaging	Het
Kansl1l	T	C	1: 66,801,997	Q48R	possibly damaging	Het
Kmt5a	T	C	5: 124,447,271	L23P	probably damaging	Het
Lrba	C	T	3: 86,737,142	H381Y	probably damaging	Het
Lrrc32	T	C	7: 98,499,357	V448A	probably benign	Het
Mapkbp1	T	C	2: 120,017,820	M617T	probably damaging	Het
Mfap1a	T	C	2: 121,502,801	M50V	probably benign	Het
Mgam	G	T	6: 40,759,128	A854S	probably damaging	Het
Myo18b	C	A	5: 112,693,033	R2298L	probably damaging	Het
Nlrp2	T	A	7: 5,300,951	T192S	probably benign	Het
Nr2f1	A	T	13: 78,198,165	Y137N	possibly damaging	Het
Nup98	T	A	7: 102,147,306	D841V	probably damaging	Het
Nvl	A	G	1: 181,139,262	V59A	probably damaging	Het
Ogdhl	C	A	14: 32,346,788	N948K	probably damaging	Het
Olfr530	A	G	7: 140,373,113	S166P	probably benign	Het
Olfr538	A	G	7: 140,574,749	T199A	probably benign	Het
Olfr578	A	C	7: 102,984,323	Y280*	probably null	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Osgin1	G	A	8: 119,444,965	R166H	probably damaging	Het
Palb2	A	T	7: 122,107,523	F741I	probably benign	Het
Palb2	G	T	7: 122,107,524	Y740*	probably null	Het
Parvb	G	A	15: 84,271,308	D65N	probably benign	Het
Parvb	G	A	15: 84,271,252	G46D	probably damaging	Het
Pcsk2	A	T	2: 143,546,518	K10*	probably null	Het
Pde3a	C	T	6: 141,466,206	A502V	probably benign	Het
Pfas	T	C	11: 68,991,359	I893V	probably benign	Het
Pla2g4a	A	T	1: 149,840,720	D663E	probably damaging	Het
Prickle2	G	A	6: 92,458,602	P6L	probably damaging	Het
Prx	T	A	7: 27,517,601	M648K	probably benign	Het
Ptpn21	T	C	12: 98,688,476	N744S	probably benign	Het
Ptprq	C	T	10: 107,718,574	V97M	probably damaging	Het
Pvr	T	C	7: 19,918,624	E122G	possibly damaging	Het
Racgap1	T	C	15: 99,639,775	K15E	probably damaging	Het
Rock1	C	T	18: 10,136,091		probably null	Het
Rorc	T	A	3: 94,397,302	Y331*	probably null	Het
Rpl37	T	C	15: 5,118,614	V91A	probably benign	Het
Rrp36	T	A	17: 46,672,380	K103*	probably null	Het
Ryr3	T	A	2: 112,653,007	M4142L	probably benign	Het
Sash1	A	T	10: 8,789,593	L125H	probably damaging	Het
Scn5a	T	C	9: 119,536,475	M369V	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,146,254		probably null	Het
Sfi1	C	CT	11: 3,146,255		probably null	Het
Siglec1	A	T	2: 131,070,387	N1678K	probably benign	Het
Slc15a5	A	T	6: 138,072,994	V141E	probably benign	Het
Slc8a3	A	T	12: 81,199,710	H856Q	probably benign	Het
Sptlc2	T	A	12: 87,355,640	M171L	probably benign	Het
Srcap	T	A	7: 127,559,727		probably benign	Het
St6gal2	A	G	17: 55,490,943	D310G	probably damaging	Het
Susd2	T	A	10: 75,638,054	D689V	probably damaging	Het
Suz12	A	T	11: 80,019,732	E303V	possibly damaging	Het
Taldo1	C	A	7: 141,398,587	T150K	probably damaging	Het
Tg	T	A	15: 66,849,463	F274I	possibly damaging	Het
Tmem151b	T	C	17: 45,545,737	D259G	probably damaging	Het
Tmem179	G	T	12: 112,501,854	H64Q	probably benign	Het
Tmem236	A	G	2: 14,218,921	T174A	probably benign	Het
Tnc	A	T	4: 63,966,574	N1821K	probably damaging	Het
Tnfrsf11a	A	G	1: 105,825,048	N261S	probably damaging	Het
Trank1	C	A	9: 111,343,232	F96L	possibly damaging	Het
Trim56	T	A	5: 137,113,163	I500F	probably damaging	Het
Ttc30b	G	T	2: 75,937,811	S199R	probably benign	Het
Ttll5	A	G	12: 85,879,394	I321V	possibly damaging	Het
Ttn	C	A	2: 76,778,023	W17852L	probably damaging	Het
Twnk	G	A	19: 45,009,381	V450M	probably damaging	Het
Uba52	A	G	8: 70,509,556	I127T	possibly damaging	Het
Ubr4	T	A	4: 139,421,226		probably null	Het
Uggt1	A	T	1: 36,176,796	M130K	probably benign	Het
Ulk4	T	A	9: 121,081,656	T1101S	probably benign	Het
Urb1	A	G	16: 90,752,014	S2269P	probably benign	Het
Ush2a	G	T	1: 188,400,206	R875L	probably benign	Het
Usp9y	T	A	Y: 1,332,471	H1624L	probably benign	Het
Vipr1	T	C	9: 121,665,520	L308S	possibly damaging	Het
Xdh	T	G	17: 73,891,112	K1260T	probably damaging	Het
Yipf4	A	G	17: 74,493,968	I94V	probably benign	Het
Zfhx4	A	G	3: 5,413,146	*3582W	probably null	Het
Zfp58	T	C	13: 67,492,025	N116D	possibly damaging	Het
Zfp750	C	A	11: 121,511,993	R643L	probably benign	Het
Znfx1	A	G	2: 167,042,587	V51A	possibly damaging	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
R1579:Myo1h	UTSW	5	114347435	nonsense	probably null
R1646:Myo1h	UTSW	5	114317632	missense	possibly damaging	0.90
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'- AGGTCACTCAGGCAATCCCAGAGG -3'
(R):5'- GTGACAATGCCCGTGAAGCTCC -3'

Sequencing Primer
(F):5'- TATTAGAGTCAGGGCGAGCA -3'
(R):5'- CTATACCTGGGCAGGAGACTG -3'

Posted On

2014-03-28