Mutagenetix > Incidental Mutation

Incidental Mutation 'R0455:Arb2a'

39974

Institutional Source

Beutler Lab

Gene Symbol

Arb2a

Ensembl Gene

ENSMUSG00000064138

Gene Name

ARB2 cotranscriptional regulator A

Synonyms

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

MMRRC Submission

038655-MU

Accession Numbers

Essential gene?

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

Stock #

R0455 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77856799-78314359 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 77982832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153070 (fasta)

Gene Model

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

AlphaFold

Q3TNH5

Predicted Effect

probably benign
Transcript: ENSMUST00000091459

SMART Domains

Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138

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 benign
Transcript: ENSMUST00000099358

SMART Domains

Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163257

SMART Domains

Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138

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

probably benign
Transcript: ENSMUST00000224217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224889

Predicted Effect

probably benign
Transcript: ENSMUST00000224908

Predicted Effect

probably benign
Transcript: ENSMUST00000225623

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,088,180 (GRCm39)	G342D	possibly damaging	Het
Acvr2b	C	T	9: 119,261,675 (GRCm39)	R399W	probably damaging	Het
Atf6	A	G	1: 170,662,492 (GRCm39)	V256A	probably benign	Het
Atp2b4	A	T	1: 133,656,454 (GRCm39)	I732N	probably damaging	Het
C1qtnf9	A	C	14: 61,009,820 (GRCm39)	Q25H	probably damaging	Het
Ccdc6	T	A	10: 69,978,401 (GRCm39)		probably benign	Het
Cds2	T	C	2: 132,127,887 (GRCm39)		probably null	Het
Chdh	A	G	14: 29,756,603 (GRCm39)	Y343C	probably damaging	Het
Col5a2	T	C	1: 45,421,262 (GRCm39)		probably benign	Het
Cts3	G	A	13: 61,716,024 (GRCm39)		probably benign	Het
Cyfip1	T	A	7: 55,541,802 (GRCm39)	D362E	probably benign	Het
Dsg1b	T	A	18: 20,529,082 (GRCm39)	S273T	probably benign	Het
Dysf	A	T	6: 84,117,649 (GRCm39)	H1274L	probably benign	Het
Eva1c	T	C	16: 90,672,986 (GRCm39)	S187P	probably benign	Het
Fam13b	G	A	18: 34,578,581 (GRCm39)		probably benign	Het
Fbn2	C	T	18: 58,168,408 (GRCm39)	G2310S	probably damaging	Het
Fcna	T	C	2: 25,515,520 (GRCm39)	Y183C	probably damaging	Het
Fnta	T	C	8: 26,491,056 (GRCm39)	T263A	probably benign	Het
Gm94	T	C	18: 43,914,309 (GRCm39)	D83G	possibly damaging	Het
Gnal	C	T	18: 67,268,720 (GRCm39)		probably benign	Het
Grb7	T	G	11: 98,343,014 (GRCm39)	S244A	probably benign	Het
Grm3	T	C	5: 9,562,477 (GRCm39)	T458A	probably benign	Het
Hdac2	C	T	10: 36,867,832 (GRCm39)	R193C	probably damaging	Het
Hycc2	T	C	1: 58,573,638 (GRCm39)		probably benign	Het
Ighmbp2	T	C	19: 3,315,072 (GRCm39)	R783G	probably benign	Het
Inpp5j	G	T	11: 3,453,122 (GRCm39)	L43I	possibly damaging	Het
Itga11	A	T	9: 62,604,243 (GRCm39)	T44S	probably damaging	Het
Itsn1	C	T	16: 91,665,036 (GRCm39)		probably benign	Het
Kdm6b	G	T	11: 69,297,822 (GRCm39)	C233*	probably null	Het
Lamb3	T	C	1: 193,025,700 (GRCm39)	L1130P	probably damaging	Het
Lrch3	T	C	16: 32,807,250 (GRCm39)	F508L	probably damaging	Het
Lrrd1	T	A	5: 3,916,425 (GRCm39)	V814E	probably benign	Het
Megf10	C	T	18: 57,386,054 (GRCm39)	P356S	probably benign	Het
Myorg	G	A	4: 41,499,538 (GRCm39)	R31*	probably null	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Nus1	T	A	10: 52,306,190 (GRCm39)	V42E	probably damaging	Het
Or11g24	A	G	14: 50,662,359 (GRCm39)	I128V	possibly damaging	Het
Or2a51	A	C	6: 43,179,006 (GRCm39)	M143L	probably benign	Het
Padi3	T	C	4: 140,523,024 (GRCm39)	N306S	probably damaging	Het
Pex13	T	C	11: 23,605,949 (GRCm39)	S94G	probably benign	Het
Ppm1h	G	T	10: 122,638,229 (GRCm39)	Q166H	probably benign	Het
Ptafr	A	T	4: 132,307,396 (GRCm39)	Y262F	probably benign	Het
Rabgap1	T	A	2: 37,377,132 (GRCm39)	D321E	probably damaging	Het
Samsn1	C	T	16: 75,742,113 (GRCm39)		noncoding transcript	Het
Scarb1	T	C	5: 125,366,745 (GRCm39)	N63D	probably damaging	Het
Serpinb7	T	C	1: 107,379,340 (GRCm39)	I249T	possibly damaging	Het
Srpra	A	G	9: 35,126,277 (GRCm39)	K490R	probably benign	Het
Sycn	A	G	7: 28,240,398 (GRCm39)	N22D	probably benign	Het
Tarbp1	C	T	8: 127,167,612 (GRCm39)	A1067T	probably benign	Het
Tex14	A	G	11: 87,405,131 (GRCm39)	D681G	possibly damaging	Het
Usp34	C	T	11: 23,396,741 (GRCm39)		probably benign	Het
Vmn2r107	T	C	17: 20,595,085 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,187,528 (GRCm39)	M653K	probably benign	Het
Wrap73	T	A	4: 154,233,200 (GRCm39)	S125T	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
IGL01812:Arb2a	APN	13	77,909,966 (GRCm39)	nonsense	probably null
R0107:Arb2a	UTSW	13	78,050,933 (GRCm39)	missense	probably damaging	0.98
R0329:Arb2a	UTSW	13	77,910,070 (GRCm39)	intron	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

Predicted Primers

PCR Primer
(F):5'- AGGTAGATGCCACTGAGAGTGAACC -3'
(R):5'- AGACCATGTCCTGACTGTATGTCCC -3'

Sequencing Primer
(F):5'- CTGAGAGTGAACCAAAGAGTTTTATC -3'
(R):5'- TATCTTCATGACAGGACGAAAGC -3'

Posted On

2013-05-23