Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01408:9530068E07Rik'

79893

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

9530068E07Rik

Ensembl Gene

ENSMUSG00000036275

Gene Name

RIKEN cDNA 9530068E07 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL01408

Quality Score

Status

Chromosome

Chromosomal Location

52287255-52299550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52294193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 145 (R145G)

Ref Sequence

ENSEMBL: ENSMUSP00000104685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036952] [ENSMUST00000109057]

AlphaFold

Q8K201

Predicted Effect

probably damaging
Transcript: ENSMUST00000036952
AA Change: R153G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048441
Gene: ENSMUSG00000036275
AA Change: R153G

Domain	Start	End	E-Value	Type
signal peptide	1	44	N/A	INTRINSIC
low complexity region	82	116	N/A	INTRINSIC
transmembrane domain	192	211	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109057
AA Change: R145G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104685
Gene: ENSMUSG00000036275
AA Change: R145G

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
low complexity region	74	108	N/A	INTRINSIC
transmembrane domain	184	203	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153855

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c21	T	A	13: 4,627,431 (GRCm39)	M175K	probably benign	Het
Apol7a	C	T	15: 77,273,530 (GRCm39)	A311T	probably damaging	Het
Atxn10	G	T	15: 85,260,896 (GRCm39)	E214*	probably null	Het
Bmp2k	C	T	5: 97,234,823 (GRCm39)	Q749*	probably null	Het
Ccdc141	G	A	2: 76,876,023 (GRCm39)	A669V	probably benign	Het
Cndp2	A	C	18: 84,689,036 (GRCm39)	C249G	probably benign	Het
Cnr1	A	G	4: 33,944,802 (GRCm39)	I397V	possibly damaging	Het
Col19a1	T	C	1: 24,345,331 (GRCm39)		probably benign	Het
Dbn1	T	C	13: 55,630,117 (GRCm39)		probably benign	Het
Dmgdh	C	T	13: 93,845,803 (GRCm39)	P486S	probably damaging	Het
Dpys	A	G	15: 39,656,702 (GRCm39)	V455A	possibly damaging	Het
Farp2	A	G	1: 93,546,702 (GRCm39)	N907S	probably benign	Het
Fndc3c1	C	T	X: 105,476,378 (GRCm39)	E894K	probably benign	Het
Gm6685	A	T	11: 28,289,473 (GRCm39)	N114K	probably damaging	Het
Golga3	A	T	5: 110,365,675 (GRCm39)		probably null	Het
Grin2c	A	G	11: 115,151,708 (GRCm39)	L84P	probably damaging	Het
Gucy2c	A	G	6: 136,675,009 (GRCm39)	F1001L	probably benign	Het
Hcn4	A	G	9: 58,767,169 (GRCm39)	H910R	unknown	Het
Kdm4b	T	C	17: 56,660,518 (GRCm39)		probably benign	Het
Lrrfip2	A	G	9: 111,043,284 (GRCm39)	T497A	probably benign	Het
Man2c1	A	G	9: 57,048,884 (GRCm39)	Y924C	probably damaging	Het
Nkain2	T	A	10: 32,278,237 (GRCm39)	T63S	probably damaging	Het
Nlrp1a	T	A	11: 71,013,742 (GRCm39)	T503S	probably benign	Het
Or52n3	T	C	7: 104,530,037 (GRCm39)	V41A	probably benign	Het
Or52n4	T	A	7: 104,294,136 (GRCm39)	I146F	possibly damaging	Het
Pitrm1	T	A	13: 6,623,078 (GRCm39)	C780S	probably damaging	Het
Plekha5	C	T	6: 140,516,042 (GRCm39)		probably benign	Het
Rapgef4	C	T	2: 72,005,185 (GRCm39)	R193*	probably null	Het
Rbm20	A	G	19: 53,840,044 (GRCm39)	E1011G	possibly damaging	Het
Rfx3	A	T	19: 27,746,050 (GRCm39)	D685E	probably benign	Het
Ror1	T	C	4: 100,190,984 (GRCm39)	S114P	probably damaging	Het
Slc17a6	A	G	7: 51,318,863 (GRCm39)	K502E	probably benign	Het
Spink2	A	T	5: 77,359,174 (GRCm39)		probably benign	Het
Sptb	A	T	12: 76,659,921 (GRCm39)	I993N	possibly damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tes	A	T	6: 17,099,878 (GRCm39)	Y291F	probably damaging	Het
Tmtc4	G	T	14: 123,163,366 (GRCm39)		probably benign	Het
Trpa1	T	C	1: 14,959,637 (GRCm39)	E683G	probably benign	Het
Vmn2r73	T	C	7: 85,521,455 (GRCm39)	D171G	probably benign	Het
Wbp11	A	G	6: 136,791,612 (GRCm39)		probably benign	Het
Wfdc12	A	G	2: 164,031,581 (GRCm39)	*86R	probably null	Het
Zfp281	T	C	1: 136,553,853 (GRCm39)	V277A	probably damaging	Het

Other mutations in 9530068E07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02133:9530068E07Rik	APN	11	52,294,337 (GRCm39)	missense	probably damaging	1.00
IGL02962:9530068E07Rik	APN	11	52,294,362 (GRCm39)	missense	possibly damaging	0.94
IGL03116:9530068E07Rik	APN	11	52,294,331 (GRCm39)	missense	probably benign	0.14
R1186:9530068E07Rik	UTSW	11	52,293,905 (GRCm39)	missense	probably benign	0.17
R7357:9530068E07Rik	UTSW	11	52,297,821 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05