Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02131:4921513D11Rik'

281181

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4921513D11Rik

Ensembl Gene

ENSMUSG00000066944

Gene Name

RIKEN cDNA 4921513D11 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

IGL02131

Quality Score

Status

Chromosome

Chromosomal Location

79934106-79936110 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 79935084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040368] [ENSMUST00000224618] [ENSMUST00000225357]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040368

SMART Domains

Protein: ENSMUSP00000044543
Gene: ENSMUSG00000036368

Domain	Start	End	E-Value	Type
transmembrane domain	9	28	N/A	INTRINSIC
low complexity region	41	54	N/A	INTRINSIC
Blast:PAS	70	133	4e-16	BLAST
low complexity region	137	149	N/A	INTRINSIC
SCOP:d1hxia_	290	386	4e-5	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000086570
AA Change: C66S

SMART Domains

Protein: ENSMUSP00000083761
Gene: ENSMUSG00000036368
AA Change: C66S

Domain	Start	End	E-Value	Type
low complexity region	195	210	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223555

Predicted Effect

probably benign
Transcript: ENSMUST00000224618

Predicted Effect

probably benign
Transcript: ENSMUST00000225357

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,185,732 (GRCm39)	Y1202C	probably damaging	Het
Adgrf1	T	A	17: 43,614,638 (GRCm39)	F241I	probably damaging	Het
Ankrd11	A	T	8: 123,621,149 (GRCm39)	I901N	probably damaging	Het
Anxa8	A	T	14: 33,812,588 (GRCm39)	D46V	possibly damaging	Het
Ap4e1	A	G	2: 126,903,849 (GRCm39)	Y917C	probably benign	Het
Arhgap40	G	A	2: 158,373,859 (GRCm39)		probably null	Het
Dnah17	A	G	11: 117,963,734 (GRCm39)	V2513A	probably damaging	Het
Dnhd1	T	C	7: 105,370,009 (GRCm39)	L4478P	probably damaging	Het
Dtx3	T	C	10: 127,029,148 (GRCm39)	D30G	probably damaging	Het
Fat2	A	G	11: 55,199,868 (GRCm39)	Y1069H	probably damaging	Het
Fbxo21	T	A	5: 118,140,155 (GRCm39)	N538K	possibly damaging	Het
Frem1	T	C	4: 82,843,091 (GRCm39)	T1748A	probably benign	Het
Kcnh6	T	C	11: 105,911,001 (GRCm39)	Y466H	probably damaging	Het
Kif2c	G	A	4: 117,035,150 (GRCm39)	S41L	possibly damaging	Het
Kir3dl2	T	A	X: 135,358,462 (GRCm39)	H52L	possibly damaging	Het
Mageb18	A	G	X: 91,163,655 (GRCm39)	C196R	possibly damaging	Het
Mrpl9	T	A	3: 94,352,020 (GRCm39)		probably null	Het
Nt5c1b	A	G	12: 10,425,491 (GRCm39)	I345V	possibly damaging	Het
Or10a49	T	C	7: 108,467,415 (GRCm39)	*315W	probably null	Het
Or2j3	T	A	17: 38,615,539 (GRCm39)	H271L	probably benign	Het
Or8c11	A	G	9: 38,289,203 (GRCm39)	T9A	probably benign	Het
Parp8	T	C	13: 117,047,409 (GRCm39)	N221S	probably benign	Het
Plbd1	T	C	6: 136,638,681 (GRCm39)		probably benign	Het
Recql5	C	A	11: 115,814,068 (GRCm39)	W86L	probably benign	Het
Rgs6	T	C	12: 83,116,269 (GRCm39)	S232P	probably damaging	Het
Rnf182	A	G	13: 43,821,818 (GRCm39)	H123R	probably benign	Het
Rtf2	A	G	2: 172,308,212 (GRCm39)	T204A	unknown	Het
Sema4d	T	C	13: 51,856,973 (GRCm39)		probably null	Het
Septin8	T	C	11: 53,428,684 (GRCm39)	S408P	possibly damaging	Het
Serpini1	A	G	3: 75,548,011 (GRCm39)	N396D	probably benign	Het
Slc26a2	A	C	18: 61,331,884 (GRCm39)	F516V	possibly damaging	Het
Tcf4	A	G	18: 69,697,697 (GRCm39)		probably benign	Het
Trrap	G	T	5: 144,777,246 (GRCm39)	G3045W	probably damaging	Het
Tspo2	T	A	17: 48,756,089 (GRCm39)	T91S	possibly damaging	Het
Ttn	T	C	2: 76,567,958 (GRCm39)	D27645G	probably damaging	Het
Uba6	G	T	5: 86,297,936 (GRCm39)	T246K	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Wwp2	T	A	8: 108,278,950 (GRCm39)	M136K	probably damaging	Het
Zranb3	A	T	1: 127,920,688 (GRCm39)	V412D	probably damaging	Het

Other mutations in 4921513D11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00535:4921513D11Rik	APN	17	79,935,328 (GRCm39)	intron	probably benign
R0358:4921513D11Rik	UTSW	17	79,935,585 (GRCm39)	intron	probably benign
R0746:4921513D11Rik	UTSW	17	79,935,715 (GRCm39)	intron	probably benign
R0781:4921513D11Rik	UTSW	17	79,935,180 (GRCm39)	missense	probably benign	0.01
R1803:4921513D11Rik	UTSW	17	79,935,095 (GRCm39)	intron	probably benign
R1923:4921513D11Rik	UTSW	17	79,935,562 (GRCm39)	intron	probably benign
R4968:4921513D11Rik	UTSW	17	79,935,651 (GRCm39)	missense	probably benign	0.10
R5156:4921513D11Rik	UTSW	17	79,935,638 (GRCm39)	intron	probably benign
R8178:4921513D11Rik	UTSW	17	79,935,699 (GRCm39)	missense

Posted On

2015-04-16