Mutagenetix > Incidental Mutation

Incidental Mutation 'R1547:Arb2a'

172285

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

039586-MU

Accession Numbers

Essential gene?

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

Stock #

R1547 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77856799-78314359 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 77973509 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 null
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 null
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 null
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 null
Transcript: ENSMUST00000224908

Predicted Effect

probably null
Transcript: ENSMUST00000225623

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	C	12: 21,403,958 (GRCm39)	V96G	probably damaging	Het
Adam5	G	T	8: 25,300,729 (GRCm39)	Q267K	probably benign	Het
Adamts6	A	G	13: 104,581,383 (GRCm39)	T833A	probably benign	Het
Ago4	C	T	4: 126,405,206 (GRCm39)	E456K	probably benign	Het
Anapc1	T	C	2: 128,459,476 (GRCm39)	Q1861R	probably benign	Het
Apob	A	T	12: 8,053,368 (GRCm39)	D1270V	probably benign	Het
Arhgef11	T	A	3: 87,602,709 (GRCm39)	I196N	possibly damaging	Het
Armh4	A	T	14: 50,010,953 (GRCm39)	D251E	probably benign	Het
Capzb	G	A	4: 138,989,409 (GRCm39)		probably null	Het
Ccdc183	T	A	2: 25,499,362 (GRCm39)	T466S	probably benign	Het
Cd101	T	C	3: 100,926,267 (GRCm39)	T151A	possibly damaging	Het
Cdc42bpa	A	T	1: 179,902,209 (GRCm39)	I489F	probably damaging	Het
Cetn4	T	C	3: 37,363,600 (GRCm39)	K52R	possibly damaging	Het
Dock6	C	T	9: 21,725,884 (GRCm39)	E1440K	probably damaging	Het
Edem2	A	G	2: 155,564,436 (GRCm39)	F94L	probably damaging	Het
Elp1	C	A	4: 56,792,090 (GRCm39)	R226L	probably damaging	Het
Elp1	C	T	4: 56,798,810 (GRCm39)	V51M	probably damaging	Het
Entrep1	T	C	19: 23,957,065 (GRCm39)	D315G	probably damaging	Het
Etl4	T	C	2: 20,790,039 (GRCm39)	S881P	probably damaging	Het
Fat2	G	A	11: 55,143,081 (GRCm39)	P4256L	probably benign	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Kif19a	A	G	11: 114,677,398 (GRCm39)	E594G	probably benign	Het
Kifap3	A	G	1: 163,621,655 (GRCm39)	D101G	probably benign	Het
Klhl6	T	C	16: 19,784,832 (GRCm39)	D102G	probably benign	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lamb2	A	G	9: 108,359,824 (GRCm39)	H388R	probably benign	Het
Lmna	T	C	3: 88,389,658 (GRCm39)	S656G	probably benign	Het
Map3k12	T	A	15: 102,412,287 (GRCm39)	I285F	probably damaging	Het
Map3k7	A	G	4: 31,991,796 (GRCm39)	I345V	probably benign	Het
Mcph1	A	G	8: 18,672,702 (GRCm39)	R111G	possibly damaging	Het
Mfsd6l	T	A	11: 68,447,434 (GRCm39)	V95D	probably damaging	Het
Mogs	T	A	6: 83,093,006 (GRCm39)	M118K	possibly damaging	Het
Npy5r	T	C	8: 67,133,686 (GRCm39)	E369G	possibly damaging	Het
Nudt16l2	A	T	9: 105,021,889 (GRCm39)	F52L	probably damaging	Het
Or10j3	T	A	1: 173,031,239 (GRCm39)	Y105*	probably null	Het
Or2t49	A	G	11: 58,392,651 (GRCm39)	S244P	probably damaging	Het
Or8b12b	A	C	9: 37,683,960 (GRCm39)	T2P	probably benign	Het
Pde7b	C	A	10: 20,310,340 (GRCm39)	L207F	probably damaging	Het
Pigo	A	G	4: 43,020,689 (GRCm39)	V751A	probably benign	Het
Polr2a	T	C	11: 69,625,381 (GRCm39)	Y1923C	probably benign	Het
Prokr2	T	C	2: 132,215,522 (GRCm39)	Y152C	probably damaging	Het
Rab40c	A	G	17: 26,102,724 (GRCm39)	S223P	probably damaging	Het
Recql4	A	C	15: 76,590,511 (GRCm39)	C658G	probably damaging	Het
Sgca	T	C	11: 94,860,259 (GRCm39)	T46A	probably damaging	Het
Slc39a4	G	T	15: 76,498,347 (GRCm39)	C363*	probably null	Het
Snap25	A	T	2: 136,619,389 (GRCm39)	I181F	possibly damaging	Het
Snx32	T	A	19: 5,547,339 (GRCm39)	Q256L	possibly damaging	Het
Soat1	A	G	1: 156,267,331 (GRCm39)	V284A	probably damaging	Het
Sox6	G	A	7: 115,300,957 (GRCm39)	T170M	possibly damaging	Het
Spag16	G	T	1: 69,912,402 (GRCm39)	V246F	possibly damaging	Het
St6galnac6	T	C	2: 32,504,977 (GRCm39)	V141A	possibly damaging	Het
Sult2a7	T	A	7: 14,211,047 (GRCm39)		probably null	Het
Syngr3	A	T	17: 24,906,698 (GRCm39)	V39E	probably damaging	Het
Tango6	A	G	8: 107,508,418 (GRCm39)	T917A	probably damaging	Het
Tas1r1	A	G	4: 152,112,876 (GRCm39)	S726P	probably damaging	Het
Zeb1	C	T	18: 5,767,450 (GRCm39)	R654C	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
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
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'- TCCACATAGCAACAGAAGGTGAAGC -3'
(R):5'- TGGTAAACGCCATCAGCACTGC -3'

Sequencing Primer
(F):5'- AGCGTTACCTACTTGGTAAGAGC -3'
(R):5'- GTAAGCAGACTTACAGGCATTG -3'

Posted On

2014-04-13