Mutagenetix > Incidental Mutation

Incidental Mutation 'R1667:Arb2a'

187310

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

039703-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R1667 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77856799-78314359 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 77907635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

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
AA Change: Y19*

SMART Domains

Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138
AA Change: Y19*

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: Y19*

SMART Domains

Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138
AA Change: Y19*

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: Y65*

SMART Domains

Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138
AA Change: Y65*

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: Y19*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224889

Predicted Effect

probably null
Transcript: ENSMUST00000224908
AA Change: M1K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably null
Transcript: ENSMUST00000225623
AA Change: M1K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.7096

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	G	A	7: 139,425,564 (GRCm39)	A26T	possibly damaging	Het
Adgrg3	T	A	8: 95,760,001 (GRCm39)	Y73*	probably null	Het
Alk	A	T	17: 72,218,562 (GRCm39)	V761E	probably damaging	Het
Ankrd13a	T	C	5: 114,924,794 (GRCm39)	V93A	possibly damaging	Het
Anks1b	T	C	10: 90,347,046 (GRCm39)		probably null	Het
Ascl1	T	C	10: 87,328,655 (GRCm39)	N99S	probably benign	Het
Atm	A	T	9: 53,412,232 (GRCm39)	L972Q	probably damaging	Het
Atp2c1	A	T	9: 105,309,996 (GRCm39)	L566Q	probably null	Het
Bank1	T	A	3: 135,799,057 (GRCm39)	Y629F	probably damaging	Het
Bod1l	G	T	5: 41,974,118 (GRCm39)	L2399I	probably benign	Het
Bub1b	G	A	2: 118,471,670 (GRCm39)	G1010D	probably benign	Het
Ces1b	G	A	8: 93,783,532 (GRCm39)	H563Y	possibly damaging	Het
Cfap70	T	C	14: 20,454,225 (GRCm39)	E853G	probably benign	Het
Cfh	T	C	1: 140,033,261 (GRCm39)	E779G	probably benign	Het
Cox7c	A	G	13: 86,194,003 (GRCm39)	S7P	probably benign	Het
Cyp2c67	A	G	19: 39,632,034 (GRCm39)		probably null	Het
Dhx30	G	T	9: 109,914,513 (GRCm39)	L995I	possibly damaging	Het
Dhx30	G	C	9: 109,914,514 (GRCm39)	N957K	possibly damaging	Het
Dsc3	T	C	18: 20,124,617 (GRCm39)	T36A	possibly damaging	Het
Dstyk	A	G	1: 132,384,657 (GRCm39)	D717G	probably damaging	Het
Dusp10	A	G	1: 183,769,055 (GRCm39)	D7G	probably damaging	Het
E230001N04Rik	T	G	17: 28,742,935 (GRCm39)		noncoding transcript	Het
Ece2	T	C	16: 20,456,588 (GRCm39)	S330P	possibly damaging	Het
Frmd5	ATAGTGGAATTGTTCAAACTC	ATAGTGGAATTGTTCAAACTCTAGTGGAATTGTTCAAACTC	2: 121,379,211 (GRCm39)		probably null	Het
Gata3	T	C	2: 9,882,360 (GRCm39)	H14R	possibly damaging	Het
Ggta1	T	A	2: 35,304,295 (GRCm39)	I75F	possibly damaging	Het
Hcn1	A	T	13: 117,739,609 (GRCm39)	I124F	unknown	Het
Herpud1	A	C	8: 95,115,994 (GRCm39)	D53A	probably damaging	Het
Inhba	T	A	13: 16,201,209 (GRCm39)	L257Q	possibly damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Jmy	T	A	13: 93,634,878 (GRCm39)	S313C	probably damaging	Het
Lpo	G	A	11: 87,698,067 (GRCm39)		probably benign	Het
Lsg1	T	C	16: 30,390,170 (GRCm39)	E315G	probably damaging	Het
Lsm14a	T	A	7: 34,065,079 (GRCm39)	T167S	possibly damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map3k2	T	C	18: 32,336,845 (GRCm39)		probably benign	Het
Mapk12	A	T	15: 89,024,344 (GRCm39)	M81K	probably damaging	Het
Matn2	T	A	15: 34,378,878 (GRCm39)	C305S	probably damaging	Het
Mgam	T	C	6: 40,653,978 (GRCm39)	Y844H	possibly damaging	Het
Mgat5b	A	G	11: 116,838,203 (GRCm39)	R281G	probably benign	Het
Mon1b	T	G	8: 114,368,589 (GRCm39)	C497G	probably damaging	Het
Mybbp1a	A	T	11: 72,336,043 (GRCm39)	H452L	probably benign	Het
Mybl2	A	G	2: 162,917,616 (GRCm39)	T41A	probably damaging	Het
Ncoa5	A	G	2: 164,843,623 (GRCm39)	V540A	probably damaging	Het
Nup93	T	A	8: 95,019,315 (GRCm39)	V47E	possibly damaging	Het
Or10a4	A	T	7: 106,696,977 (GRCm39)	M102L	probably benign	Het
Or5j3	A	G	2: 86,129,080 (GRCm39)	M307V	probably null	Het
Orc6	T	A	8: 86,031,914 (GRCm39)	C100S	possibly damaging	Het
Otogl	G	T	10: 107,649,826 (GRCm39)	Y1176*	probably null	Het
Patj	A	T	4: 98,301,264 (GRCm39)	D183V	probably damaging	Het
Pik3r3	A	G	4: 116,079,514 (GRCm39)	T4A	probably damaging	Het
Pla2g4d	G	A	2: 120,100,631 (GRCm39)		probably benign	Het
Pla2r1	A	G	2: 60,250,601 (GRCm39)	I1407T	probably benign	Het
Pramel13	A	T	4: 144,119,606 (GRCm39)	C320*	probably null	Het
Prex2	A	T	1: 11,256,981 (GRCm39)	H1231L	probably benign	Het
Prkca	A	G	11: 107,874,772 (GRCm39)	V390A	probably damaging	Het
Psmd13	T	A	7: 140,470,522 (GRCm39)	W255R	probably damaging	Het
Rec8	T	A	14: 55,856,253 (GRCm39)	N37K	probably damaging	Het
Rnf207	C	T	4: 152,397,672 (GRCm39)	E361K	probably benign	Het
Serpina3f	T	A	12: 104,183,699 (GRCm39)	L187Q	probably damaging	Het
Skint11	A	T	4: 114,051,978 (GRCm39)	T109S	probably damaging	Het
Slc7a8	A	G	14: 54,962,306 (GRCm39)	S443P	probably damaging	Het
Slc8b1	T	A	5: 120,659,147 (GRCm39)	F197Y	probably benign	Het
Sox2	T	C	3: 34,704,568 (GRCm39)	Y2H	probably damaging	Het
Speg	T	A	1: 75,387,193 (GRCm39)		probably benign	Het
Tlr3	T	C	8: 45,853,874 (GRCm39)	N149D	probably benign	Het
Trim60	A	C	8: 65,454,116 (GRCm39)	D44E	probably benign	Het
Ugt1a7c	A	G	1: 88,023,657 (GRCm39)	Y272C	probably damaging	Het
Vmn1r4	T	A	6: 56,933,738 (GRCm39)	Y81N	probably damaging	Het
Vmn2r73	A	T	7: 85,506,889 (GRCm39)	C808S	probably benign	Het
Ythdf3	T	C	3: 16,259,056 (GRCm39)	I412T	possibly damaging	Het
Zfp672	T	C	11: 58,206,921 (GRCm39)	T467A	possibly damaging	Het
Zfp985	A	T	4: 147,668,407 (GRCm39)	Q425L	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
R1547:Arb2a	UTSW	13	77,973,509 (GRCm39)	critical splice donor site	probably null
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'- ACCTGACTGGCCTTTCTTGATATGTGA -3'
(R):5'- TGCCAACTATGGAAACTTGTTCCTTGT -3'

Sequencing Primer
(F):5'- CAGCTTTAGATTAAGGTTAATGAGGG -3'
(R):5'- TGGAAACTTGTTCCTTGTTGATAC -3'

Posted On

2014-05-09