Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01812:Arb2a'

154295

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arb2a

Ensembl Gene

ENSMUSG00000064138

Gene Name

ARB2 cotranscriptional regulator A

Synonyms

53-E6, 1110033M05Rik, 9430037D06Rik, Fam172a, 2610318O14Rik, pEN87

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

IGL01812

Quality Score

Status

Chromosome

Chromosomal Location

77856799-78314359 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 77909966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 27 (L27*)

Ref Sequence

ENSEMBL: ENSMUSP00000153656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091459] [ENSMUST00000099358] [ENSMUST00000163257] [ENSMUST00000224217] [ENSMUST00000224908] [ENSMUST00000225623]

AlphaFold

Q3TNH5

Predicted Effect

probably null
Transcript: ENSMUST00000091459
AA Change: L27*

SMART Domains

Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138
AA Change: L27*

Domain	Start	End	E-Value	Type
Pfam:Arb2	30	178	7.8e-38	PFAM
SCOP:d1imja_	224	295	2e-3	SMART
low complexity region	341	354	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000099358
AA Change: L27*

SMART Domains

Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138
AA Change: L27*

Domain	Start	End	E-Value	Type
SCOP:d1imja_	160	231	2e-3	SMART
low complexity region	277	290	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000163257
AA Change: L73*

SMART Domains

Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138
AA Change: L73*

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Arb2	78	228	3.5e-44	PFAM
SCOP:d1imja_	270	341	2e-3	SMART
low complexity region	387	400	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224013

Predicted Effect

probably null
Transcript: ENSMUST00000224217
AA Change: L27*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224889

Predicted Effect

probably benign
Transcript: ENSMUST00000224908

Predicted Effect

probably benign
Transcript: ENSMUST00000225623

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	A	G	7: 80,749,950 (GRCm39)	Y1456C	probably damaging	Het
Apobr	A	G	7: 126,187,094 (GRCm39)	D840G	probably damaging	Het
Cd300lf	T	C	11: 115,011,114 (GRCm39)	R175G	probably damaging	Het
Chil5	A	G	3: 105,924,468 (GRCm39)	S426P	possibly damaging	Het
Cngb3	T	G	4: 19,461,728 (GRCm39)	I536M	possibly damaging	Het
Cracdl	T	A	1: 37,664,446 (GRCm39)	D484V	probably benign	Het
Cyp4f15	G	A	17: 32,905,131 (GRCm39)	R38H	probably benign	Het
Ddb1	A	C	19: 10,590,382 (GRCm39)	E303A	probably damaging	Het
Dis3l	T	A	9: 64,217,519 (GRCm39)	E822V	probably benign	Het
Erich3	T	C	3: 154,419,608 (GRCm39)	V234A	possibly damaging	Het
Evi5l	T	C	8: 4,243,219 (GRCm39)		probably null	Het
Exoc4	T	C	6: 33,734,894 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,242,007 (GRCm39)	I62V	probably benign	Het
Itpkb	T	C	1: 180,247,851 (GRCm39)	F823S	probably damaging	Het
Izumo2	A	G	7: 44,358,519 (GRCm39)	N14S	possibly damaging	Het
Matcap1	C	T	8: 106,011,289 (GRCm39)		probably benign	Het
Nbas	T	C	12: 13,503,504 (GRCm39)	C1545R	probably damaging	Het
Or4c108	A	T	2: 88,803,868 (GRCm39)	Y122*	probably null	Het
Pds5b	A	T	5: 150,704,154 (GRCm39)	R852S	probably damaging	Het
Polh	G	A	17: 46,483,837 (GRCm39)	A476V	probably benign	Het
Prune2	T	A	19: 16,981,141 (GRCm39)	D99E	possibly damaging	Het
Tdrd6	A	G	17: 43,936,065 (GRCm39)	V1661A	probably benign	Het
Tor1aip2	A	G	1: 155,935,285 (GRCm39)	S7G	probably benign	Het
Vps13a	A	G	19: 16,692,424 (GRCm39)	V830A	probably benign	Het
Vps39	G	A	2: 120,151,271 (GRCm39)		probably benign	Het
Zdhhc17	T	A	10: 110,784,078 (GRCm39)	H466L	possibly damaging	Het

Other mutations in Arb2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Arb2a	APN	13	78,100,094 (GRCm39)	splice site	probably benign
IGL01455:Arb2a	APN	13	78,050,766 (GRCm39)	splice site	probably benign
IGL01534:Arb2a	APN	13	78,147,830 (GRCm39)	splice site	probably benign
R0107:Arb2a	UTSW	13	78,050,933 (GRCm39)	missense	probably damaging	0.98
R0329:Arb2a	UTSW	13	77,910,070 (GRCm39)	intron	probably benign
R0455:Arb2a	UTSW	13	77,982,832 (GRCm39)	splice site	probably benign
R1112:Arb2a	UTSW	13	77,910,005 (GRCm39)	missense	probably damaging	1.00
R1434:Arb2a	UTSW	13	77,910,041 (GRCm39)	missense	probably damaging	1.00
R1547:Arb2a	UTSW	13	77,973,509 (GRCm39)	critical splice donor site	probably null
R1667:Arb2a	UTSW	13	77,907,635 (GRCm39)	start codon destroyed	probably null	0.04
R1961:Arb2a	UTSW	13	78,050,839 (GRCm39)	missense	probably benign	0.24
R2018:Arb2a	UTSW	13	78,147,756 (GRCm39)	missense	possibly damaging	0.49
R5878:Arb2a	UTSW	13	78,100,186 (GRCm39)	missense	probably damaging	1.00
R7230:Arb2a	UTSW	13	77,907,591 (GRCm39)	missense	probably damaging	1.00
R7449:Arb2a	UTSW	13	77,907,561 (GRCm39)	missense	probably damaging	1.00
R7867:Arb2a	UTSW	13	78,050,837 (GRCm39)	missense	probably benign
R8080:Arb2a	UTSW	13	78,154,565 (GRCm39)	missense	probably damaging	1.00
R8839:Arb2a	UTSW	13	78,147,781 (GRCm39)	missense	probably benign	0.11
R8895:Arb2a	UTSW	13	78,147,773 (GRCm39)	missense	probably damaging	0.99
R9094:Arb2a	UTSW	13	78,311,725 (GRCm39)	missense	possibly damaging	0.90
RF003:Arb2a	UTSW	13	77,982,794 (GRCm39)	missense	possibly damaging	0.93

Posted On

2014-02-04