Mutagenetix > Incidental Mutation

Incidental Mutation 'R6444:Myo1h'

519121

Institutional Source

Beutler Lab

Gene Symbol

Myo1h

Ensembl Gene

ENSMUSG00000066952

Gene Name

myosin 1H

Synonyms

4631401O15Rik

MMRRC Submission

044582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6444 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114427314-114502637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114453017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 6 (T6A)

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: T6A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: T6A

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: T22A

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: T22A

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: T6A

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: T6A

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

0.0878

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	ACAGAGCAGTGCCTACCAG	ACAG	5: 138,637,831 (GRCm39)		probably benign	Het
Bcas2	T	A	3: 103,079,362 (GRCm39)		probably null	Het
Camk1d	A	T	2: 5,317,956 (GRCm39)	I233N	probably damaging	Het
Chd2	T	C	7: 73,150,785 (GRCm39)		probably null	Het
Cnot2	T	C	10: 116,335,260 (GRCm39)	D246G	probably benign	Het
Cped1	A	C	6: 21,986,930 (GRCm39)	I41L	probably benign	Het
Dcdc2c	A	G	12: 28,585,475 (GRCm39)	V174A	probably damaging	Het
Dscam	G	A	16: 96,420,844 (GRCm39)	R1681C	probably damaging	Het
Dysf	G	A	6: 84,167,822 (GRCm39)	V1755M	probably benign	Het
Eif5b	G	A	1: 38,075,292 (GRCm39)	D590N	probably damaging	Het
Fntb	A	G	12: 76,963,214 (GRCm39)	Y399C	probably damaging	Het
Galns	T	C	8: 123,338,077 (GRCm39)	M1V	probably null	Het
Galnt15	T	C	14: 31,762,368 (GRCm39)	F199L	probably damaging	Het
Gm8229	A	T	14: 44,602,928 (GRCm39)	H38L	unknown	Het
Magel2	T	C	7: 62,029,747 (GRCm39)	Y884H	unknown	Het
Miga1	A	T	3: 151,989,468 (GRCm39)	V473E	probably damaging	Het
Mrgprx1	C	T	7: 47,671,562 (GRCm39)	V62I	possibly damaging	Het
Mybl1	G	A	1: 9,755,917 (GRCm39)	P211S	possibly damaging	Het
Myo19	A	G	11: 84,786,134 (GRCm39)	H254R	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Or5b119	A	T	19: 13,456,794 (GRCm39)	M256K	possibly damaging	Het
Or8g20	T	C	9: 39,395,614 (GRCm39)	T309A	probably benign	Het
Psmd12	A	G	11: 107,377,280 (GRCm39)	E113G	possibly damaging	Het
Ptpn3	T	C	4: 57,195,730 (GRCm39)	D879G	possibly damaging	Het
Rufy3	A	G	5: 88,785,166 (GRCm39)	Q414R	probably damaging	Het
Slc14a2	A	G	18: 78,197,317 (GRCm39)	I813T	probably damaging	Het
Smok2a	G	T	17: 13,444,500 (GRCm39)	A26S	probably benign	Het
Spsb3	T	A	17: 25,110,550 (GRCm39)	L459Q	probably damaging	Het
Tacc2	T	C	7: 130,225,142 (GRCm39)	V609A	possibly damaging	Het
Tmem185b	C	A	1: 119,454,365 (GRCm39)	A42E	probably damaging	Het
Trim56	A	G	5: 137,141,470 (GRCm39)	V682A	probably damaging	Het
Trim75	T	C	8: 65,435,488 (GRCm39)	K321E	possibly damaging	Het
Ttc17	A	C	2: 94,133,891 (GRCm39)	M1098R	possibly damaging	Het
Ydjc	C	A	16: 16,965,545 (GRCm39)	H136Q	probably damaging	Het
Zfp568	A	T	7: 29,716,682 (GRCm39)	H193L	probably benign	Het
Znhit1	A	G	5: 137,011,254 (GRCm39)	V153A	probably benign	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
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
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'- TCTCAGGGTTTAGCGCATC -3'
(R):5'- CAGGCCCTTTGTGACTATGTC -3'

Sequencing Primer
(F):5'- CAGGGTTTAGCGCATCTCTGTTTC -3'
(R):5'- CCCTTTGTGACTATGTCAGTGG -3'

Posted On

2018-05-24