Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Myo1h'

735308

Institutional Source

Beutler Lab

Gene Symbol

Myo1h

Ensembl Gene

ENSMUSG00000066952

Gene Name

myosin 1H

Synonyms

4631401O15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114289166-114365357 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114345936 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 548 (E548G)

Ref Sequence

ENSEMBL: ENSMUSP00000132905 (fasta)

Gene Model

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

AlphaFold

Q9D6A1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124316
AA Change: E532G

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

SMART Domains

Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: E532G

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

SMART Domains

Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: E548G

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

SMART Domains

Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: E532G

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

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,703,903	S52P	unknown	Het
Ank2	A	G	3: 126,959,077	M330T	possibly damaging	Het
Ankar	C	T	1: 72,659,181	V905I	possibly damaging	Het
Anln	G	T	9: 22,372,222	D438E	probably damaging	Het
C1ql3	T	C	2: 13,004,389	N215S	probably damaging	Het
Ccdc110	A	G	8: 45,942,589	S506G	probably benign	Het
Ccdc87	A	G	19: 4,841,147	T556A	probably benign	Het
Cma1	A	T	14: 55,941,729	N236K	probably benign	Het
Csmd2	T	C	4: 128,369,193	F724S		Het
Cts8	T	C	13: 61,253,322	K130R	possibly damaging	Het
Daam1	A	T	12: 71,944,148	T179S	unknown	Het
Fancd2os	T	C	6: 113,597,977	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,504,854	I168N	probably damaging	Het
Gckr	G	A	5: 31,300,024	G127D	probably damaging	Het
Gm11444	G	A	11: 85,846,873	Q164*	probably null	Het
Gm28042	T	A	2: 120,038,503	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,192,971	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,668,903	H198Q	possibly damaging	Het
Hps6	T	A	19: 46,005,508	L628*	probably null	Het
Igha	G	A	12: 113,259,139	H221Y		Het
Ighm	A	G	12: 113,419,015	S453P		Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Lfng	A	G	5: 140,607,773	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,200	A172T	probably benign	Het
Lrrc56	A	G	7: 141,207,607	T386A	probably benign	Het
Mapkbp1	A	T	2: 120,010,775	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mrto4	T	A	4: 139,349,070	N70I	probably damaging	Het
Mxra8	C	T	4: 155,839,825		probably benign	Het
Ncan	C	T	8: 70,108,101	D739N	probably benign	Het
Olfr315	T	C	11: 58,778,769	V214A	probably benign	Het
Oxgr1	T	C	14: 120,022,151	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,752,035	V86E	probably damaging	Het
Pclo	G	A	5: 14,712,615	V416M		Het
Phf3	G	T	1: 30,830,791	T392K	probably benign	Het
Pkhd1	A	T	1: 20,566,849	V379E	probably damaging	Het
Ppfia3	T	C	7: 45,341,115	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,422,217	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,782,670	D384E	probably benign	Het
Rergl	A	G	6: 139,500,763	F23L	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Sidt2	A	G	9: 45,943,614	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,141,132	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,272,075	D474V	probably damaging	Het
Tenm4	G	A	7: 96,553,478	G100D	probably damaging	Het
Tmem258	G	A	19: 10,207,273	V75I	probably benign	Het
Tmem91	G	T	7: 25,670,563	H95N	probably damaging	Het
Trps1	T	C	15: 50,846,694	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,943,717	M209K	probably benign	Het
Tspan17	C	A	13: 54,793,279	Q124K	probably benign	Het
Uts2b	G	A	16: 27,360,942	R105*	probably null	Het
Vmn2r110	T	A	17: 20,583,468	T282S	probably benign	Het
Xdh	T	A	17: 73,922,460	M333L	probably benign	Het
Zbtb3	A	G	19: 8,804,469	E482G	probably 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
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
Z1177:Myo1h	UTSW	5	114334156	missense

Predicted Primers

PCR Primer
(F):5'- GGAAACCCCATGTCACCAGG -3'
(R):5'- AATCTCAGTCAGCTTTAAAACAGG -3'

Sequencing Primer
(F):5'- TGCTGTGAACAGACACCTTG -3'
(R):5'- CAGTTCCTGGCTGCAAACTGATG -3'

Posted On

2022-11-14