Mutagenetix > Incidental Mutation

Incidental Mutation 'R0547:2310057N15Rik'

44932

Institutional Source

Beutler Lab

Gene Symbol

2310057N15Rik

Ensembl Gene

ENSMUSG00000048830

Gene Name

RIKEN cDNA 2310057N15 gene

Synonyms

MMRRC Submission

038739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R0547 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88570069-88571094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88570498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 181 (Y181H)

Ref Sequence

ENSEMBL: ENSMUSP00000062370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009191] [ENSMUST00000054223]

AlphaFold

Q9D6T8

Predicted Effect

probably benign
Transcript: ENSMUST00000009191

SMART Domains

Protein: ENSMUSP00000009191
Gene: ENSMUSG00000009047

Domain	Start	End	E-Value	Type
Pfam:PMG	1	77	1e-28	PFAM
Pfam:PMG	74	196	2.3e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054223
AA Change: Y181H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000062370
Gene: ENSMUSG00000048830
AA Change: Y181H

Domain	Start	End	E-Value	Type
Pfam:PMG	1	77	1.6e-28	PFAM
Pfam:PMG	74	200	7.5e-51	PFAM

Meta Mutation Damage Score

0.2829

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	A	G	13: 31,742,813 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,274,592 (GRCm39)	D1208G	probably benign	Het
Ankrd55	T	C	13: 112,504,757 (GRCm39)	F501S	probably benign	Het
Aox1	G	A	1: 58,349,201 (GRCm39)	D656N	probably damaging	Het
Atr	A	T	9: 95,781,218 (GRCm39)		probably benign	Het
Bicra	G	A	7: 15,706,173 (GRCm39)	R1423W	probably damaging	Het
Cabyr	T	A	18: 12,884,073 (GRCm39)	S187T	probably benign	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Cdon	A	T	9: 35,368,794 (GRCm39)	T343S	possibly damaging	Het
Cep350	C	T	1: 155,777,181 (GRCm39)		probably null	Het
Cimap1a	A	G	7: 140,428,728 (GRCm39)		probably null	Het
Copa	T	C	1: 171,949,254 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,749,854 (GRCm39)	D265G	probably benign	Het
Dgkb	T	A	12: 38,654,157 (GRCm39)	C759S	probably benign	Het
Dnah6	T	C	6: 73,021,757 (GRCm39)	M3470V	probably benign	Het
Eif4g2	T	C	7: 110,677,500 (GRCm39)	N177S	probably damaging	Het
Etfb	C	T	7: 43,104,002 (GRCm39)	Q145*	probably null	Het
Flnb	T	A	14: 7,912,943 (GRCm38)		probably null	Het
G430095P16Rik	G	A	8: 85,453,271 (GRCm39)		probably benign	Het
Gfral	A	T	9: 76,115,924 (GRCm39)	S17T	probably benign	Het
Gpr26	T	C	7: 131,586,026 (GRCm39)	I332T	probably benign	Het
Greb1	T	A	12: 16,773,412 (GRCm39)	T221S	probably benign	Het
Haus5	A	T	7: 30,358,508 (GRCm39)	S289T	probably damaging	Het
Ighv6-4	T	C	12: 114,370,221 (GRCm39)	Y77C	probably damaging	Het
Il23r	A	T	6: 67,400,685 (GRCm39)	D548E	probably benign	Het
Il23r	A	T	6: 67,463,235 (GRCm39)	F86Y	possibly damaging	Het
Inppl1	A	T	7: 101,480,210 (GRCm39)	M424K	probably benign	Het
Jam3	A	G	9: 27,010,184 (GRCm39)	Y267H	probably damaging	Het
Lrrc37	T	C	11: 103,510,990 (GRCm39)	N326S	unknown	Het
Mms19	A	T	19: 41,951,857 (GRCm39)	M160K	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Mup5	A	G	4: 61,751,237 (GRCm39)	L137P	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Ntrk2	G	A	13: 59,022,184 (GRCm39)	S413N	probably damaging	Het
Nuak2	C	A	1: 132,259,941 (GRCm39)	T573N	probably benign	Het
Or4m1	A	T	14: 50,557,575 (GRCm39)	I239K	probably benign	Het
Or52h9	G	A	7: 104,202,563 (GRCm39)	V146M	probably benign	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pclo	T	A	5: 14,842,086 (GRCm39)	I4787N	unknown	Het
Pde8a	G	T	7: 80,973,878 (GRCm39)	V612L	probably benign	Het
Pear1	A	T	3: 87,696,107 (GRCm39)		probably null	Het
Pgbd1	A	G	13: 21,607,688 (GRCm39)	Y169H	probably damaging	Het
Pkd1l1	A	G	11: 8,786,448 (GRCm39)		probably benign	Het
Prkag3	C	T	1: 74,783,879 (GRCm39)		probably null	Het
Rsph9	A	T	17: 46,455,050 (GRCm39)	S9T	possibly damaging	Het
Rxfp1	A	T	3: 79,612,876 (GRCm39)		probably null	Het
Senp7	A	G	16: 55,996,189 (GRCm39)	E756G	probably damaging	Het
Serpina1e	G	T	12: 103,915,450 (GRCm39)	T252K	probably benign	Het
Sipa1l1	T	A	12: 82,484,510 (GRCm39)	S1555T	probably benign	Het
Slain1	T	C	14: 103,932,711 (GRCm39)	S432P	probably damaging	Het
Slc37a2	A	T	9: 37,144,418 (GRCm39)		probably null	Het
Thg1l	C	T	11: 45,845,018 (GRCm39)	R18Q	probably damaging	Het
Tnn	A	G	1: 159,943,907 (GRCm39)		probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Tshz3	A	G	7: 36,470,842 (GRCm39)	T944A	probably damaging	Het
Ttn	C	G	2: 76,684,774 (GRCm39)		probably benign	Het
Ythdc2	T	C	18: 44,973,331 (GRCm39)	S323P	possibly damaging	Het
Zfp827	A	G	8: 79,786,939 (GRCm39)	N35S	probably damaging	Het

Other mutations in 2310057N15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02953:2310057N15Rik	APN	16	88,570,534 (GRCm39)	missense	possibly damaging	0.89
R5008:2310057N15Rik	UTSW	16	88,570,663 (GRCm39)	missense	probably damaging	0.99
R7272:2310057N15Rik	UTSW	16	88,570,523 (GRCm39)	nonsense	probably null
R7612:2310057N15Rik	UTSW	16	88,570,496 (GRCm39)	nonsense	probably null
R8220:2310057N15Rik	UTSW	16	88,570,723 (GRCm39)	missense	probably damaging	1.00
R9004:2310057N15Rik	UTSW	16	88,570,986 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGTTGAGTTCCCCAACCCATAAACG -3'
(R):5'- GGGCACATATGCTGGCTCTCTG -3'

Sequencing Primer
(F):5'- TTGAGGCATACTAGGGATTACAC -3'
(R):5'- CTGGCTCTCTGGGCTTTG -3'

Posted On

2013-06-11