Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03402:1700019A02Rik'

421449

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700019A02Rik

Ensembl Gene

ENSMUSG00000060715

Gene Name

RIKEN cDNA 1700019A02 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

IGL03402

Quality Score

Status

Chromosome

Chromosomal Location

53197736-53226795 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53216972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 81 (H81R)

Ref Sequence

ENSEMBL: ENSMUSP00000139938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072235] [ENSMUST00000190748]

AlphaFold

A0A087WPV9

Predicted Effect

probably benign
Transcript: ENSMUST00000072235
AA Change: H81R

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

SMART Domains

Protein: ENSMUSP00000072089
Gene: ENSMUSG00000060715
AA Change: H81R

Domain	Start	End	E-Value	Type
coiled coil region	38	68	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190748
AA Change: H81R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139938
Gene: ENSMUSG00000060715
AA Change: H81R

Domain	Start	End	E-Value	Type
coiled coil region	38	68	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg10b	A	T	15: 90,112,532 (GRCm39)	K459*	probably null	Het
C8g	A	T	2: 25,388,824 (GRCm39)	*203K	probably null	Het
Cacna1b	T	C	2: 24,652,821 (GRCm39)	E80G	probably damaging	Het
Cdh12	T	A	15: 21,583,826 (GRCm39)	N555K	probably benign	Het
Cenpf	T	A	1: 189,387,273 (GRCm39)	N1669I	probably damaging	Het
Cpsf1	A	G	15: 76,480,203 (GRCm39)		probably null	Het
Ear1	A	G	14: 44,056,575 (GRCm39)	S98P	probably benign	Het
Elfn2	A	T	15: 78,557,670 (GRCm39)	D292E	possibly damaging	Het
Fbxw24	T	C	9: 109,430,316 (GRCm39)	S443G	probably damaging	Het
Fnip2	T	C	3: 79,388,583 (GRCm39)	E716G	possibly damaging	Het
Gabra1	G	T	11: 42,024,345 (GRCm39)	N443K	probably damaging	Het
Grik5	A	T	7: 24,714,894 (GRCm39)	V700E	probably damaging	Het
Ifi27l2a	T	A	12: 103,405,772 (GRCm39)	N162K	probably damaging	Het
Myom2	A	T	8: 15,115,731 (GRCm39)	T49S	probably benign	Het
Obsl1	T	C	1: 75,463,443 (GRCm39)	M1750V	probably benign	Het
Or10g9b	A	T	9: 39,917,802 (GRCm39)	W148R	probably benign	Het
Or2l13b	A	T	16: 19,349,667 (GRCm39)	M1K	probably null	Het
Or2y1	A	T	11: 49,385,873 (GRCm39)	H171L	probably benign	Het
Ppp2r5e	A	G	12: 75,511,667 (GRCm39)	V352A	probably damaging	Het
Prkca	T	A	11: 108,231,489 (GRCm39)	Q63L	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Slfn14	T	C	11: 83,167,139 (GRCm39)	K792R	probably benign	Het
Slfn3	C	T	11: 83,104,257 (GRCm39)	T376M	probably damaging	Het
Snx19	A	T	9: 30,351,430 (GRCm39)	I135F	possibly damaging	Het
Stab2	A	T	10: 86,805,165 (GRCm39)	V271E	probably benign	Het
Trpv1	T	G	11: 73,130,463 (GRCm39)	F190V	possibly damaging	Het
Urb2	T	C	8: 124,756,588 (GRCm39)	V765A	possibly damaging	Het
Vmn2r61	A	G	7: 41,909,679 (GRCm39)	H68R	probably benign	Het
Vps8	T	C	16: 21,267,148 (GRCm39)	I177T	possibly damaging	Het
Zfp810	A	C	9: 22,190,441 (GRCm39)		probably null	Het

Other mutations in 1700019A02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01728:1700019A02Rik	APN	1	53,221,668 (GRCm39)	missense	probably benign	0.03
IGL02249:1700019A02Rik	APN	1	53,224,431 (GRCm39)	nonsense	probably null
IGL02727:1700019A02Rik	APN	1	53,226,724 (GRCm39)	missense	probably benign	0.00
IGL02970:1700019A02Rik	APN	1	53,226,748 (GRCm39)	missense	probably damaging	0.99
R1557:1700019A02Rik	UTSW	1	53,221,025 (GRCm39)	missense	possibly damaging	0.81
R1955:1700019A02Rik	UTSW	1	53,202,400 (GRCm39)	missense	probably benign	0.09
R4030:1700019A02Rik	UTSW	1	53,221,668 (GRCm39)	missense	probably benign	0.03
R4060:1700019A02Rik	UTSW	1	53,197,928 (GRCm39)	missense	probably damaging	0.97
R4061:1700019A02Rik	UTSW	1	53,197,928 (GRCm39)	missense	probably damaging	0.97
R4062:1700019A02Rik	UTSW	1	53,197,928 (GRCm39)	missense	probably damaging	0.97
R4327:1700019A02Rik	UTSW	1	53,221,664 (GRCm39)	missense	possibly damaging	0.90
R6018:1700019A02Rik	UTSW	1	53,202,405 (GRCm39)	critical splice acceptor site	probably null
R7490:1700019A02Rik	UTSW	1	53,202,389 (GRCm39)	missense	possibly damaging	0.90
R7715:1700019A02Rik	UTSW	1	53,221,659 (GRCm39)	missense	probably benign
R9487:1700019A02Rik	UTSW	1	53,221,665 (GRCm39)	missense	possibly damaging	0.90

Posted On

2016-08-02