Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02228:B020004J07Rik'

285377

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

B020004J07Rik

Ensembl Gene

ENSMUSG00000035201

Gene Name

RIKEN cDNA B020004J07 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02228

Quality Score

Status

Chromosome

Chromosomal Location

101834969-101844023 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101836858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 276 (Y276C)

Ref Sequence

ENSEMBL: ENSMUSP00000102532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084386] [ENSMUST00000106919]

AlphaFold

Q3UTC0

Predicted Effect

probably benign
Transcript: ENSMUST00000084386
AA Change: Y276C

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000081421
Gene: ENSMUSG00000035201
AA Change: Y276C

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	219	405	2e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106919
AA Change: Y276C

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102532
Gene: ENSMUSG00000035201
AA Change: Y276C

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	219	405	2e-10	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	C	12: 84,016,964	V282A	probably benign	Het
Acsm5	A	G	7: 119,531,866	D169G	probably damaging	Het
Adam8	C	T	7: 139,988,806		probably null	Het
Agpat1	T	C	17: 34,610,562	F37L	possibly damaging	Het
Asah2	A	T	19: 32,016,714	D410E	probably benign	Het
Atg2a	T	A	19: 6,246,800	V378D	probably benign	Het
Atp1a4	T	C	1: 172,254,885	Y130C	possibly damaging	Het
Bnc2	T	C	4: 84,293,076	H419R	possibly damaging	Het
Capza3	A	G	6: 140,041,915	D80G	probably benign	Het
Col6a4	C	T	9: 106,068,078	D946N	probably benign	Het
Crat	T	C	2: 30,413,182	H31R	probably damaging	Het
Dsc2	A	G	18: 20,043,733	V419A	probably damaging	Het
Ebf1	T	C	11: 44,972,912	V363A	probably damaging	Het
Gm13119	A	G	4: 144,362,661	K183R	probably damaging	Het
Lcp2	T	C	11: 34,047,424	F24S	probably damaging	Het
Lgmn	G	A	12: 102,395,714	T376I	probably benign	Het
Lrrc8d	C	T	5: 105,811,864	L47F	probably benign	Het
Mier1	T	A	4: 103,131,062	M44K	possibly damaging	Het
Ogfod1	C	A	8: 94,062,987	Q439K	probably benign	Het
Olfr303	A	C	7: 86,395,078	I140S	possibly damaging	Het
Pcgf6	A	C	19: 47,047,982	F216C	probably damaging	Het
Pcnt	C	T	10: 76,389,474	R1732K	probably benign	Het
Rbbp4	A	T	4: 129,317,750	H370Q	probably damaging	Het
Reln	A	G	5: 21,904,731	V3127A	probably damaging	Het
Rttn	T	A	18: 89,042,231	V1019E	probably damaging	Het
Serpina9	C	T	12: 104,008,600	R98Q	probably benign	Het
Slc16a7	C	A	10: 125,230,798	G324V	probably damaging	Het
Slc22a3	A	G	17: 12,459,810	L209P	probably damaging	Het
Tet1	T	A	10: 62,813,734	T1695S	probably damaging	Het
Tulp3	G	A	6: 128,334,485	T74M	probably damaging	Het
Ube3a	A	G	7: 59,288,396		probably benign	Het
Ufl1	A	T	4: 25,281,686	S23T	probably benign	Het
Unc80	A	G	1: 66,608,428	E1509G	possibly damaging	Het
Wnk2	A	T	13: 49,056,940	I1801N	probably damaging	Het

Other mutations in B020004J07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01083:B020004J07Rik	APN	4	101835532	missense	probably benign
IGL01615:B020004J07Rik	APN	4	101837004	missense	possibly damaging	0.63
IGL01765:B020004J07Rik	APN	4	101837852	missense	probably benign	0.03
IGL02276:B020004J07Rik	APN	4	101838109	missense	possibly damaging	0.89
IGL02548:B020004J07Rik	APN	4	101835573	missense	probably damaging	0.99
IGL03226:B020004J07Rik	APN	4	101835397	missense	probably benign	0.00
R0124:B020004J07Rik	UTSW	4	101835373	makesense	probably null
R0449:B020004J07Rik	UTSW	4	101836961	missense	probably benign	0.01
R0573:B020004J07Rik	UTSW	4	101835414	missense	probably damaging	0.96
R1159:B020004J07Rik	UTSW	4	101838027	missense	possibly damaging	0.54
R1689:B020004J07Rik	UTSW	4	101837179	missense	possibly damaging	0.63
R1857:B020004J07Rik	UTSW	4	101835573	missense	probably damaging	1.00
R1861:B020004J07Rik	UTSW	4	101836938	missense	probably benign
R2570:B020004J07Rik	UTSW	4	101837246	missense	probably benign	0.01
R3886:B020004J07Rik	UTSW	4	101835723	missense	probably benign	0.09
R4922:B020004J07Rik	UTSW	4	101835532	missense	probably benign
R4984:B020004J07Rik	UTSW	4	101835599	missense	possibly damaging	0.63
R5503:B020004J07Rik	UTSW	4	101835802	missense	probably benign	0.00
R6230:B020004J07Rik	UTSW	4	101837214	missense	probably damaging	0.96
R6831:B020004J07Rik	UTSW	4	101836897	missense	probably benign	0.26
R7172:B020004J07Rik	UTSW	4	101836996	missense	probably benign	0.00
R7201:B020004J07Rik	UTSW	4	101838141	critical splice acceptor site	probably null
R7220:B020004J07Rik	UTSW	4	101837368	missense	probably benign	0.00
R7253:B020004J07Rik	UTSW	4	101835528	missense	probably benign	0.31
R7545:B020004J07Rik	UTSW	4	101837962	missense	probably benign	0.00
R7567:B020004J07Rik	UTSW	4	101837134	missense	probably benign	0.00
R7763:B020004J07Rik	UTSW	4	101837141	missense	possibly damaging	0.95
R8003:B020004J07Rik	UTSW	4	101835933	missense	probably benign	0.21
R8005:B020004J07Rik	UTSW	4	101837251	missense	probably damaging	1.00
R8836:B020004J07Rik	UTSW	4	101835825	missense	probably benign	0.00
R9125:B020004J07Rik	UTSW	4	101836876	missense	probably benign	0.26
R9332:B020004J07Rik	UTSW	4	101837947	missense	probably damaging	1.00
R9545:B020004J07Rik	UTSW	4	101835900	missense	probably damaging	0.99
R9733:B020004J07Rik	UTSW	4	101835768	missense	possibly damaging	0.74
R9775:B020004J07Rik	UTSW	4	101837047	missense	probably benign	0.06

Posted On

2015-04-16