Mutagenetix > Incidental Mutation

Incidental Mutation 'RF001:A030005L19Rik'

602474

Institutional Source

Beutler Lab

Gene Symbol

A030005L19Rik

Ensembl Gene

ENSMUSG00000113880

Gene Name

RIKEN cDNA A030005L19 gene

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

RF001 (G1)

Quality Score

185.469

Status

Not validated

Chromosome

Chromosomal Location

82891046-82891851 bp(+) (GRCm39)

Type of Mutation

small insertion (3 aa in frame mutation)

DNA Base Change (assembly)

G to GTGGCTGCTA at 82891311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000220768]

AlphaFold

A0A1Y7VIU2

Predicted Effect

probably benign
Transcript: ENSMUST00000220768

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer1	A	G	17: 57,265,909 (GRCm39)	V122A	probably benign	Het
Adam34l	T	G	8: 44,079,942 (GRCm39)	D94A	possibly damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,974 (GRCm39)		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,479,405 (GRCm39)		probably benign	Het
Atp13a1	C	A	8: 70,252,720 (GRCm39)	A680D	probably damaging	Het
Blm	CGCCTCCTCCTC	CGCCTCCTCCTCAGCCTCCTCCTC	7: 80,162,651 (GRCm39)		probably benign	Het
Blm	CTCCTCC	CTCCTCCTCCTCGTCCTCC	7: 80,162,675 (GRCm39)		probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC	7: 80,162,654 (GRCm39)		probably benign	Het
Cad	GT	G	5: 31,217,556 (GRCm39)		probably benign	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,129,715 (GRCm39)		probably benign	Het
Casz1	CACA	C	4: 149,036,761 (GRCm39)		probably benign	Het
Cherp	GACCTGGA	G	8: 73,215,893 (GRCm39)		probably null	Het
Chga	AGC	AGCTGC	12: 102,527,682 (GRCm39)		probably benign	Het
Coq7	A	G	7: 118,132,405 (GRCm39)	S24P	probably benign	Het
Cul1	T	C	6: 47,501,515 (GRCm39)	V734A	possibly damaging	Het
Cyb5r4	GCCCAGGGATGTGACAGACACACT	GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT	9: 86,922,469 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,770,286 (GRCm39)	F521I	possibly damaging	Het
Fam171b	GCAGCA	GCAGCATCAGCA	2: 83,643,230 (GRCm39)		probably benign	Het
Fat1	T	G	8: 45,442,003 (GRCm39)	S1102A	probably benign	Het
Gab3	CTT	CTTTTT	X: 74,043,624 (GRCm39)		probably benign	Het
Gm14412	T	C	2: 177,008,894 (GRCm39)	I52V	probably benign	Het
Gm5414	T	C	15: 101,536,388 (GRCm39)	E79G	probably benign	Het
Gpc5	G	A	14: 115,654,590 (GRCm39)	S470N	probably benign	Het
Grin2b	A	G	6: 136,021,238 (GRCm39)	V21A	probably benign	Het
Hecw1	C	A	13: 14,472,009 (GRCm39)	C553F	probably damaging	Het
Hsd3b6	T	A	3: 98,713,756 (GRCm39)	H181L	probably benign	Het
Il2	CCAGGTGCTGCTGC	CC	3: 37,179,911 (GRCm39)		probably benign	Het
Inpp5f	G	A	7: 128,296,807 (GRCm39)	G1053R	probably damaging	Het
Kcnma1	T	G	14: 23,361,765 (GRCm39)	Y1142S	probably damaging	Het
Kctd8	T	C	5: 69,267,775 (GRCm39)	K445R	possibly damaging	Het
Kmt2b	CC	CCTCCTTC	7: 30,285,807 (GRCm39)		probably benign	Het
Kmt2c	TG	TGTTGCGG	5: 25,520,773 (GRCm39)		probably benign	Het
Krtap28-10	CACCAC	CACCACCGCCACCGCAACCAC	1: 83,020,003 (GRCm39)		probably benign	Het
Krtap28-10	CACAGCCACAGCCACCACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC	1: 83,019,976 (GRCm39)		probably benign	Het
Krtap28-10	GCCACCACAGC	GCCACCACAGCCACATCCACCACAGC	1: 83,020,001 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,059,897 (GRCm39)	D662G		Het
Lce1m	AC	ACTGCTGCTGCCCC	3: 92,925,459 (GRCm39)		probably benign	Het
Lce1m	GCTGCCACC	GCTGCCACCACTCCTGCCACC	3: 92,925,576 (GRCm39)		probably benign	Het
Lmo4	A	C	3: 143,907,623 (GRCm39)	S63A	possibly damaging	Het
Lrrk2	T	C	15: 91,620,836 (GRCm39)	I952T	probably benign	Het
Lyst	T	C	13: 13,810,426 (GRCm39)	F699L	probably benign	Het
Matn3	T	A	12: 9,008,797 (GRCm39)	D303E	probably benign	Het
Me1	A	G	9: 86,464,876 (GRCm39)	Y545H	probably damaging	Het
Mettl3	A	T	14: 52,537,756 (GRCm39)	V68E	probably benign	Het
Mptx2	T	C	1: 173,102,536 (GRCm39)	N51S	probably benign	Het
Mylk	A	G	16: 34,699,741 (GRCm39)	D368G	probably benign	Het
Myom2	T	C	8: 15,131,418 (GRCm39)	V372A	possibly damaging	Het
Neb	T	C	2: 52,085,433 (GRCm39)	D5569G	probably damaging	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,030 (GRCm39)		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,001,061 (GRCm39)		probably benign	Het
Pop1	G	A	15: 34,502,583 (GRCm39)	G90D	probably damaging	Het
Rbm12	CC	CCGGGTATTGTGGGACCAGTTATTGCGGGAGC	2: 155,937,995 (GRCm39)		probably benign	Het
Sertad4	T	C	1: 192,529,486 (GRCm39)	Y110C	probably damaging	Het
Setd1a	GGTAGTGGT	GGTAGTGGTAGTAGTGGT	7: 127,384,486 (GRCm39)		probably benign	Het
Smarca2	AGC	AGCCCCGGC	19: 26,608,421 (GRCm39)		probably benign	Het
Smarca2	ACA	ACAACAGCA	19: 26,608,386 (GRCm39)		probably benign	Het
Supt20	AGCA	AGCACCCGCA	3: 54,635,083 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,968,811 (GRCm39)		probably benign	Het
Tecpr1	A	G	5: 144,154,204 (GRCm39)	F83S	probably damaging	Het
Triobp	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	15: 78,851,227 (GRCm39)		probably benign	Het
Vmn1r48	A	T	6: 90,013,186 (GRCm39)	M213K	probably benign	Het
Zc3h4	CCC	CCCTGACATGCATCC	7: 16,163,612 (GRCm39)		probably benign	Het
Zscan29	T	C	2: 120,994,477 (GRCm39)	N503D	possibly damaging	Het

Other mutations in A030005L19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
RF005:A030005L19Rik	UTSW	1	82,891,306 (GRCm39)	small insertion	probably benign
RF011:A030005L19Rik	UTSW	1	82,891,307 (GRCm39)	small insertion	probably benign
RF011:A030005L19Rik	UTSW	1	82,891,294 (GRCm39)	small insertion	probably benign
RF011:A030005L19Rik	UTSW	1	82,891,290 (GRCm39)	small insertion	probably benign
RF016:A030005L19Rik	UTSW	1	82,891,298 (GRCm39)	small insertion	probably benign
RF018:A030005L19Rik	UTSW	1	82,891,293 (GRCm39)	small insertion	probably benign
RF021:A030005L19Rik	UTSW	1	82,891,290 (GRCm39)	small insertion	probably benign
RF023:A030005L19Rik	UTSW	1	82,891,117 (GRCm39)	small deletion	probably benign
RF028:A030005L19Rik	UTSW	1	82,891,301 (GRCm39)	small insertion	probably benign
RF028:A030005L19Rik	UTSW	1	82,891,299 (GRCm39)	small insertion	probably benign
RF034:A030005L19Rik	UTSW	1	82,891,301 (GRCm39)	small insertion	probably benign
RF035:A030005L19Rik	UTSW	1	82,891,310 (GRCm39)	small insertion	probably benign
RF038:A030005L19Rik	UTSW	1	82,891,301 (GRCm39)	small insertion	probably benign
RF040:A030005L19Rik	UTSW	1	82,891,311 (GRCm39)	small insertion	probably benign
RF040:A030005L19Rik	UTSW	1	82,891,298 (GRCm39)	small insertion	probably benign
RF042:A030005L19Rik	UTSW	1	82,891,305 (GRCm39)	small insertion	probably benign
RF044:A030005L19Rik	UTSW	1	82,891,310 (GRCm39)	small insertion	probably benign
RF053:A030005L19Rik	UTSW	1	82,891,294 (GRCm39)	small insertion	probably benign
RF059:A030005L19Rik	UTSW	1	82,891,300 (GRCm39)	small insertion	probably benign
RF060:A030005L19Rik	UTSW	1	82,891,308 (GRCm39)	small insertion	probably benign
RF060:A030005L19Rik	UTSW	1	82,891,300 (GRCm39)	nonsense	probably null
RF060:A030005L19Rik	UTSW	1	82,891,117 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCCTCTCTACTGACAACATGG -3'
(R):5'- GTGTGGCCTCCATATCTCCTAG -3'

Sequencing Primer
(F):5'- CAACATGGGTTGCTGTGGC -3'
(R):5'- GGCCTCCATATCTCCTAGGTAGG -3'

Posted On

2019-12-04