Mutagenetix > Incidental Mutation

Incidental Mutation 'R3846:4930568D16Rik'

277362

Institutional Source

Beutler Lab

Gene Symbol

4930568D16Rik

Ensembl Gene

ENSMUSG00000026882

Gene Name

RIKEN cDNA 4930568D16 gene

Synonyms

MMRRC Submission

040894-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R3846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35244230-35257741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35244570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 261 (Y261H)

Ref Sequence

ENSEMBL: ENSMUSP00000028243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028243]

AlphaFold

A2AUQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000028243
AA Change: Y261H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028243
Gene: ENSMUSG00000026882
AA Change: Y261H

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	11	319	1.3e-101	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,772,749 (GRCm39)	I511F	probably benign	Het
Adgb	G	A	10: 10,258,465 (GRCm39)		probably benign	Het
Adgrg3	T	C	8: 95,767,049 (GRCm39)	V468A	probably benign	Het
Ano4	A	T	10: 88,831,114 (GRCm39)	I468N	possibly damaging	Het
Apool	A	T	X: 111,274,155 (GRCm39)		probably benign	Het
Arhgap32	T	C	9: 32,101,320 (GRCm39)	V295A	probably benign	Het
Ccser2	A	G	14: 36,662,245 (GRCm39)	V313A	probably benign	Het
Ctnnd1	T	C	2: 84,447,271 (GRCm39)	I325V	probably benign	Het
Cubn	T	C	2: 13,287,819 (GRCm39)	D3420G	probably damaging	Het
Dnah12	A	G	14: 26,431,366 (GRCm39)	T395A	probably benign	Het
Dock2	T	G	11: 34,623,198 (GRCm39)	H65P	possibly damaging	Het
Fsip2	A	T	2: 82,816,759 (GRCm39)	Q4164L	possibly damaging	Het
Gapvd1	A	T	2: 34,619,084 (GRCm39)	Y96*	probably null	Het
Gja3	T	A	14: 57,273,161 (GRCm39)	K404*	probably null	Het
Hdac1-ps	A	G	17: 78,800,401 (GRCm39)	K464R	possibly damaging	Het
Hmcn2	A	G	2: 31,320,362 (GRCm39)	I3948V	possibly damaging	Het
Hr	C	T	14: 70,808,893 (GRCm39)	R1090W	probably damaging	Het
Hrnr	A	G	3: 93,239,464 (GRCm39)	H3234R	unknown	Het
Ifi207	T	A	1: 173,562,869 (GRCm39)	E92D	probably benign	Het
Iqgap2	G	A	13: 95,810,186 (GRCm39)		probably benign	Het
Itgax	G	T	7: 127,732,939 (GRCm39)	V273F	probably damaging	Het
Lamc3	A	G	2: 31,814,604 (GRCm39)	M1043V	probably benign	Het
Lgmn	T	C	12: 102,370,588 (GRCm39)	N114S	possibly damaging	Het
Mov10l1	A	G	15: 88,896,345 (GRCm39)	N678D	possibly damaging	Het
Nlrp9c	A	G	7: 26,081,701 (GRCm39)		probably null	Het
Notch4	A	G	17: 34,797,071 (GRCm39)	T940A	probably damaging	Het
Nudt15	T	A	14: 73,760,911 (GRCm39)	Q60L	probably benign	Het
Or10ag56	T	C	2: 87,139,526 (GRCm39)	V151A	probably benign	Het
Or52e7	T	C	7: 104,684,896 (GRCm39)	C164R	probably benign	Het
Phip	G	A	9: 82,758,179 (GRCm39)	R1505*	probably null	Het
Ptger2	T	G	14: 45,226,784 (GRCm39)	S121R	probably damaging	Het
Scyl2	A	T	10: 89,476,403 (GRCm39)	F907L	probably damaging	Het
Silc1	T	A	12: 27,210,301 (GRCm39)		noncoding transcript	Het
Trpc4	C	A	3: 54,225,433 (GRCm39)	F843L	probably benign	Het
Tysnd1	C	T	10: 61,531,867 (GRCm39)	S173L	possibly damaging	Het
Vmn2r124	T	A	17: 18,293,953 (GRCm39)	V680D	possibly damaging	Het
Vmn2r91	G	A	17: 18,327,860 (GRCm39)	V485I	probably benign	Het

Other mutations in 4930568D16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:4930568D16Rik	APN	2	35,245,640 (GRCm39)	missense	probably benign	0.36
IGL01701:4930568D16Rik	APN	2	35,254,776 (GRCm39)	missense	possibly damaging	0.95
IGL02049:4930568D16Rik	APN	2	35,254,801 (GRCm39)	missense	probably benign	0.03
R0112:4930568D16Rik	UTSW	2	35,244,815 (GRCm39)	missense	probably benign	0.06
R1778:4930568D16Rik	UTSW	2	35,244,995 (GRCm39)	missense	probably damaging	1.00
R2398:4930568D16Rik	UTSW	2	35,244,872 (GRCm39)	missense	possibly damaging	0.86
R4648:4930568D16Rik	UTSW	2	35,244,458 (GRCm39)	missense	probably damaging	1.00
R5239:4930568D16Rik	UTSW	2	35,244,848 (GRCm39)	missense	probably benign	0.38
R5418:4930568D16Rik	UTSW	2	35,244,738 (GRCm39)	missense	probably damaging	1.00
R5889:4930568D16Rik	UTSW	2	35,244,461 (GRCm39)	missense	probably damaging	1.00
R5951:4930568D16Rik	UTSW	2	35,244,811 (GRCm39)	missense	probably damaging	1.00
R6014:4930568D16Rik	UTSW	2	35,244,881 (GRCm39)	missense	probably benign	0.00
R6091:4930568D16Rik	UTSW	2	35,252,348 (GRCm39)	missense	possibly damaging	0.77
R7363:4930568D16Rik	UTSW	2	35,244,782 (GRCm39)	missense	probably damaging	1.00
R7773:4930568D16Rik	UTSW	2	35,244,606 (GRCm39)	missense	probably damaging	1.00
R8776:4930568D16Rik	UTSW	2	35,245,002 (GRCm39)	missense	probably benign	0.01
R8776-TAIL:4930568D16Rik	UTSW	2	35,245,002 (GRCm39)	missense	probably benign	0.01
R9108:4930568D16Rik	UTSW	2	35,244,942 (GRCm39)	missense	probably damaging	1.00
R9367:4930568D16Rik	UTSW	2	35,244,939 (GRCm39)	missense	probably benign	0.03
R9566:4930568D16Rik	UTSW	2	35,244,645 (GRCm39)	nonsense	probably null
R9673:4930568D16Rik	UTSW	2	35,244,399 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTGATTTCATAAACCCCAGGG -3'
(R):5'- AACCTTGGGCAAATCTGTAGC -3'

Sequencing Primer
(F):5'- GGGCACAACCATAGTATGATTTATG -3'
(R):5'- CTTGGGCAAATCTGTAGCTCAAC -3'

Posted On

2015-04-06