Mutagenetix > Incidental Mutations

Incidental Mutation 'R6646:4932415D10Rik'

527979

Institutional Source

Beutler Lab

Gene Symbol

4932415D10Rik

Ensembl Gene

ENSMUSG00000044581

Gene Name

RIKEN cDNA 4932415D10 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R6646 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82282116-82316582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82296830 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 115 (E115D)

Ref Sequence

ENSEMBL: ENSMUSP00000151425 (fasta)

Predicted Effect

unknown
Transcript: ENSMUST00000217661
AA Change: E115D

Meta Mutation Damage Score

0.0633

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	G	T	2: 163,735,423	N48K	probably benign	Het
Aldh1a7	C	T	19: 20,699,911	A449T	possibly damaging	Het
Arhgef28	A	G	13: 97,939,494	V1344A	probably benign	Het
Carmil3	A	T	14: 55,507,930	E1371D	probably damaging	Het
Crebbp	C	T	16: 4,119,806	A698T	possibly damaging	Het
Dedd2	T	C	7: 25,203,613	D307G	probably damaging	Het
Dennd6b	G	T	15: 89,186,184	F427L	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Doc2a	G	A	7: 126,851,619		probably null	Het
Dst	A	G	1: 34,268,807	T6503A	possibly damaging	Het
Ehmt1	A	T	2: 24,806,310	I922K	probably damaging	Het
Gbp9	A	G	5: 105,082,903	I385T	probably benign	Het
Gipc2	A	T	3: 152,094,201	D297E	possibly damaging	Het
Krt6b	T	A	15: 101,677,214	Q428L	probably damaging	Het
Loxl4	T	C	19: 42,598,781	D625G	probably damaging	Het
Lrrn2	C	T	1: 132,939,056	P620S	probably benign	Het
Msh6	T	C	17: 87,986,442	V875A	possibly damaging	Het
Nebl	T	C	2: 17,376,685	T727A	probably damaging	Het
Obscn	T	C	11: 59,082,718	D1929G	possibly damaging	Het
Pard3b	T	C	1: 62,161,121	V273A	probably benign	Het
Pcdhb7	T	A	18: 37,343,974	V721E	possibly damaging	Het
Plaa	A	T	4: 94,589,978	H82Q	probably benign	Het
Plcd1	T	A	9: 119,075,032	Y278F	probably damaging	Het
Plxnb1	C	A	9: 109,108,827	H1214N	probably benign	Het
Ptprg	C	A	14: 11,962,714	P171T	probably damaging	Het
Rela	T	G	19: 5,647,104	D446E	probably damaging	Het
Rpap1	T	C	2: 119,780,131	I156V	probably benign	Het
Rpl15	T	C	14: 18,270,040	Y59C	probably damaging	Het
Scx	C	A	15: 76,457,921	T107N	probably damaging	Het
Skint5	T	A	4: 113,940,777	K203I	possibly damaging	Het
Slc16a6	C	T	11: 109,453,162	M518I	probably benign	Het
Sorbs1	C	T	19: 40,325,549	G940R	probably damaging	Het
Synm	A	T	7: 67,735,127	I487K	probably damaging	Het
Tcerg1l	A	T	7: 138,395,183		probably null	Het
Vmn2r99	T	G	17: 19,380,031	L439R	probably damaging	Het
Wdr75	T	A	1: 45,799,087	L52Q	probably damaging	Het
Zswim2	T	A	2: 83,915,784	R437*	probably null	Het

Other mutations in 4932415D10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:4932415D10Rik	APN	10	82283752	missense	probably benign	0.06
IGL01457:4932415D10Rik	APN	10	82284734	missense	probably damaging	1.00
IGL01540:4932415D10Rik	APN	10	82284182	missense	possibly damaging	0.87
IGL02693:4932415D10Rik	APN	10	82285258	missense	probably benign	0.06
IGL02867:4932415D10Rik	APN	10	82283820	missense	probably damaging	0.96
IGL02889:4932415D10Rik	APN	10	82283820	missense	probably damaging	0.96
IGL03080:4932415D10Rik	APN	10	82283982	missense	probably damaging	0.99
IGL03120:4932415D10Rik	APN	10	82285035	missense	possibly damaging	0.90
IGL03351:4932415D10Rik	APN	10	82283567	utr 3 prime	probably benign
FR4449:4932415D10Rik	UTSW	10	82285469	frame shift	probably null
FR4548:4932415D10Rik	UTSW	10	82290996	small insertion	probably benign
FR4737:4932415D10Rik	UTSW	10	82285469	small deletion	probably benign
PIT4480001:4932415D10Rik	UTSW	10	82283752	missense	probably benign	0.06
R0102:4932415D10Rik	UTSW	10	82283556	missense	probably damaging	1.00
R0312:4932415D10Rik	UTSW	10	82284369	missense	probably damaging	1.00
R1303:4932415D10Rik	UTSW	10	82284556	missense	possibly damaging	0.94
R2039:4932415D10Rik	UTSW	10	82284676	missense	probably damaging	1.00
R2356:4932415D10Rik	UTSW	10	82283955	missense	possibly damaging	0.94
R4740:4932415D10Rik	UTSW	10	82283647	missense	possibly damaging	0.50
R4857:4932415D10Rik	UTSW	10	82283848	missense	possibly damaging	0.61
R5017:4932415D10Rik	UTSW	10	82296676	missense	unknown
R5095:4932415D10Rik	UTSW	10	82283667	missense	probably damaging	1.00
R5209:4932415D10Rik	UTSW	10	82283818	missense	possibly damaging	0.84
R5388:4932415D10Rik	UTSW	10	82283727	missense	probably damaging	0.99
R5642:4932415D10Rik	UTSW	10	82284483	missense	probably damaging	1.00
R5646:4932415D10Rik	UTSW	10	82283776	missense	probably damaging	0.99
R6188:4932415D10Rik	UTSW	10	82285257	missense	probably damaging	0.96
R6215:4932415D10Rik	UTSW	10	82291112	missense	probably benign	0.07
R6252:4932415D10Rik	UTSW	10	82283754	missense	probably benign	0.30
R6275:4932415D10Rik	UTSW	10	82285368	missense	probably damaging	1.00
R6303:4932415D10Rik	UTSW	10	82290368	missense	possibly damaging	0.79
R6304:4932415D10Rik	UTSW	10	82290368	missense	possibly damaging	0.79
R6313:4932415D10Rik	UTSW	10	82293636	missense	probably benign	0.00
R6323:4932415D10Rik	UTSW	10	82283082	missense	probably benign	0.27
R6374:4932415D10Rik	UTSW	10	82288897	unclassified	probably benign
R6407:4932415D10Rik	UTSW	10	82293811	missense	probably benign	0.16
R6468:4932415D10Rik	UTSW	10	82295316	missense	probably benign	0.01
R6490:4932415D10Rik	UTSW	10	82289304	missense	possibly damaging	0.90
R6605:4932415D10Rik	UTSW	10	82296037	missense	probably benign	0.27
R6614:4932415D10Rik	UTSW	10	82291648	missense	probably benign	0.31
R6626:4932415D10Rik	UTSW	10	82292833	missense	probably benign	0.03
R6630:4932415D10Rik	UTSW	10	82287072	missense	possibly damaging	0.81
R6723:4932415D10Rik	UTSW	10	82289823	missense	possibly damaging	0.50
R6751:4932415D10Rik	UTSW	10	82283497	missense	probably benign	0.06
R6850:4932415D10Rik	UTSW	10	82293054	missense	possibly damaging	0.68
R6944:4932415D10Rik	UTSW	10	82296222	missense	probably benign	0.03
R6957:4932415D10Rik	UTSW	10	82293786	missense	probably benign	0.03
R6988:4932415D10Rik	UTSW	10	82291899	missense	possibly damaging	0.79
R7069:4932415D10Rik	UTSW	10	82289943	missense	probably damaging	0.99
R7164:4932415D10Rik	UTSW	10	82286229	missense	probably damaging	1.00
R7175:4932415D10Rik	UTSW	10	82286749	missense	probably damaging	1.00
R7201:4932415D10Rik	UTSW	10	82291627	missense	probably benign	0.03
R7203:4932415D10Rik	UTSW	10	82293414	missense	probably benign	0.00
R7205:4932415D10Rik	UTSW	10	82289327	missense	probably benign	0.35
R7241:4932415D10Rik	UTSW	10	82287042	missense	probably benign	0.01
R7283:4932415D10Rik	UTSW	10	82291297	missense	possibly damaging	0.90
R7305:4932415D10Rik	UTSW	10	82285119	missense	probably benign	0.06
R7358:4932415D10Rik	UTSW	10	82292013	missense	possibly damaging	0.79
R7360:4932415D10Rik	UTSW	10	82296507	missense	unknown
R7362:4932415D10Rik	UTSW	10	82292997	missense	possibly damaging	0.79
R7385:4932415D10Rik	UTSW	10	82287737	missense	probably benign	0.03
R7385:4932415D10Rik	UTSW	10	82287895	missense	probably benign	0.05
R7472:4932415D10Rik	UTSW	10	82283587	missense	probably benign	0.03
R7493:4932415D10Rik	UTSW	10	82288964	nonsense	probably null
R7493:4932415D10Rik	UTSW	10	82316430	missense	unknown
R7498:4932415D10Rik	UTSW	10	82291279	missense	probably benign	0.03
R7512:4932415D10Rik	UTSW	10	82292635	missense	probably benign	0.31
R7560:4932415D10Rik	UTSW	10	82284615	missense	probably damaging	1.00
R7591:4932415D10Rik	UTSW	10	82292212	missense	probably benign	0.16
R7636:4932415D10Rik	UTSW	10	82295139	missense	probably benign	0.01
R7640:4932415D10Rik	UTSW	10	82294656	missense	probably damaging	0.99
R7709:4932415D10Rik	UTSW	10	82290532	missense	possibly damaging	0.81
R7790:4932415D10Rik	UTSW	10	82287495	missense	probably benign	0.06
R7875:4932415D10Rik	UTSW	10	82287622	missense	possibly damaging	0.79
R7878:4932415D10Rik	UTSW	10	82284022	missense	probably benign	0.04
R7899:4932415D10Rik	UTSW	10	82282897	missense	unknown
R7905:4932415D10Rik	UTSW	10	82296102	missense	probably benign	0.03
R7975:4932415D10Rik	UTSW	10	82283989	missense	possibly damaging	0.95
R7988:4932415D10Rik	UTSW	10	82296100	missense	probably benign	0.03
R8076:4932415D10Rik	UTSW	10	82296686	nonsense	probably null
R8144:4932415D10Rik	UTSW	10	82294599	nonsense	probably null
R8429:4932415D10Rik	UTSW	10	82289467	missense	possibly damaging	0.62
R8465:4932415D10Rik	UTSW	10	82316464	missense	possibly damaging	0.52
R8470:4932415D10Rik	UTSW	10	82290480	missense	probably damaging	1.00
R8509:4932415D10Rik	UTSW	10	82291116	missense	probably benign	0.01
R8515:4932415D10Rik	UTSW	10	82288602	missense	probably benign	0.00
RF017:4932415D10Rik	UTSW	10	82290992	small insertion	probably benign
RF055:4932415D10Rik	UTSW	10	82290993	small insertion	probably benign
Z1176:4932415D10Rik	UTSW	10	82282537	missense	unknown
Z1176:4932415D10Rik	UTSW	10	82289896	missense	possibly damaging	0.94
Z1176:4932415D10Rik	UTSW	10	82293228	missense	probably benign	0.03
Z1177:4932415D10Rik	UTSW	10	82285798	missense	possibly damaging	0.46
Z1177:4932415D10Rik	UTSW	10	82287126	missense	possibly damaging	0.85
Z1177:4932415D10Rik	UTSW	10	82287417	missense	probably damaging	0.99
Z1177:4932415D10Rik	UTSW	10	82289686	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCACTATTGCTCTGGATTTGC -3'
(R):5'- GTGCACTTCACTGGCTCATC -3'

Sequencing Primer
(F):5'- ATTTGCCAAGTTGTACTTTCAGG -3'
(R):5'- GGGTTCTTTACGGAAATAACTGATGC -3'

Posted On

2018-07-24