Mutagenetix > Incidental Mutation

Incidental Mutation 'R6413:E030025P04Rik'

514823

Institutional Source

Beutler Lab

Gene Symbol

E030025P04Rik

Ensembl Gene

ENSMUSG00000078605

Gene Name

RIKEN cDNA E030025P04 gene

Synonyms

MMRRC Submission

044555-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R6413 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109030117-109035195 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109030425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 154 (Y154C)

Ref Sequence

ENSEMBL: ENSMUSP00000102321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106710]

AlphaFold

A2A6V5

Predicted Effect

unknown
Transcript: ENSMUST00000106710
AA Change: Y154C

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,624,647 (GRCm39)		probably benign	Het
Agtpbp1	A	G	13: 59,647,834 (GRCm39)	V662A	possibly damaging	Het
Ambra1	T	G	2: 91,599,429 (GRCm39)	V183G	possibly damaging	Het
Amdhd2	A	G	17: 24,377,290 (GRCm39)	S208P	probably damaging	Het
Ankdd1a	C	T	9: 65,417,654 (GRCm39)	V133I	probably benign	Het
Ankrd35	A	G	3: 96,592,129 (GRCm39)	K805R	probably damaging	Het
Arhgap28	T	C	17: 68,182,583 (GRCm39)	Q270R	probably benign	Het
Cabp2	G	A	19: 4,135,698 (GRCm39)		probably null	Het
Ccnt1	A	G	15: 98,441,850 (GRCm39)	S473P	probably benign	Het
Cenpt	G	A	8: 106,572,973 (GRCm39)	P373S	possibly damaging	Het
Cyp3a44	T	A	5: 145,731,254 (GRCm39)	D182V	probably damaging	Het
Ddx54	A	G	5: 120,765,127 (GRCm39)	T799A	probably benign	Het
Dtna	T	A	18: 23,755,071 (GRCm39)	D464E	probably damaging	Het
Ephb2	C	A	4: 136,498,433 (GRCm39)	E215D	probably benign	Het
Eya4	T	C	10: 22,992,724 (GRCm39)	D445G	probably damaging	Het
Flg2	A	T	3: 93,127,683 (GRCm39)	L2198F	unknown	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Klhl22	T	C	16: 17,607,181 (GRCm39)	F496L	probably benign	Het
Numa1	A	T	7: 101,639,778 (GRCm39)		probably null	Het
Papola	T	C	12: 105,772,763 (GRCm39)		probably benign	Het
Phldb1	T	C	9: 44,607,440 (GRCm39)	E1255G	probably damaging	Het
Rgs8	A	T	1: 153,568,619 (GRCm39)	D168V	probably damaging	Het
Rlf	A	G	4: 121,004,522 (GRCm39)	V1486A	probably damaging	Het
Rpa2	G	T	4: 132,501,156 (GRCm39)	A118S	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Serpina1f	T	A	12: 103,659,953 (GRCm39)	I110F	probably damaging	Het
Serpini2	T	C	3: 75,166,921 (GRCm39)	Y112C	probably damaging	Het
Sh2b3	A	G	5: 121,966,986 (GRCm39)	Y43H	probably damaging	Het
Shank2	A	G	7: 143,963,955 (GRCm39)	E514G	probably damaging	Het
Slc44a5	T	C	3: 153,963,387 (GRCm39)	F388S	probably benign	Het
Spmip6	A	T	4: 41,505,135 (GRCm39)	V196D	possibly damaging	Het
Tmem176b	T	C	6: 48,815,266 (GRCm39)	N9S	possibly damaging	Het
Trip11	T	A	12: 101,851,790 (GRCm39)	Q758L	probably benign	Het
Trrap	T	A	5: 144,720,856 (GRCm39)	I231N	possibly damaging	Het
Ttn	A	T	2: 76,730,397 (GRCm39)		probably benign	Het
Vmn2r68	T	C	7: 84,870,973 (GRCm39)	N770S	probably damaging	Het
Vmn2r73	A	T	7: 85,519,544 (GRCm39)	Y471*	probably null	Het
Vmn2r8	T	G	5: 108,949,589 (GRCm39)	E419D	probably benign	Het
Wdfy4	C	A	14: 32,689,604 (GRCm39)	L2818F	probably damaging	Het
Zfhx4	A	T	3: 5,308,205 (GRCm39)	Y477F	probably damaging	Het

Other mutations in E030025P04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01566:E030025P04Rik	APN	11	109,034,714 (GRCm39)	missense	unknown
IGL02709:E030025P04Rik	APN	11	109,030,324 (GRCm39)	utr 3 prime	probably benign
Tipper	UTSW	11	109,030,425 (GRCm39)	missense	unknown
K3955:E030025P04Rik	UTSW	11	109,034,778 (GRCm39)	missense	unknown
R1842:E030025P04Rik	UTSW	11	109,030,396 (GRCm39)	missense	unknown
R1854:E030025P04Rik	UTSW	11	109,034,744 (GRCm39)	missense	unknown
R2382:E030025P04Rik	UTSW	11	109,034,880 (GRCm39)	nonsense	probably null
R6870:E030025P04Rik	UTSW	11	109,030,993 (GRCm39)	missense	unknown
R9121:E030025P04Rik	UTSW	11	109,034,738 (GRCm39)	missense	unknown
R9344:E030025P04Rik	UTSW	11	109,030,454 (GRCm39)	critical splice acceptor site	probably null
R9381:E030025P04Rik	UTSW	11	109,030,384 (GRCm39)	missense	unknown
Z1176:E030025P04Rik	UTSW	11	109,034,797 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTTGTTACCTTGCCCAACAGTG -3'
(R):5'- CAGGCTGACACAGTTAGAGC -3'

Sequencing Primer
(F):5'- CTCATGGATAAGACAGTGCACTTTGG -3'
(R):5'- GCTGACACAGTTAGAGCCTTAG -3'

Posted On

2018-05-04