Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:Abraxas2'

33856

Institutional Source

Beutler Lab

Gene Symbol

Abraxas2

Ensembl Gene

ENSMUSG00000030965

Gene Name

BRISC complex subunit

Synonyms

KIAA0157, Fam175b, C430003P19Rik

MMRRC Submission

038470-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132460954-132486840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 132476584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 105 (R105Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084497] [ENSMUST00000106161] [ENSMUST00000124096] [ENSMUST00000134784]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000084497
AA Change: R108Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081541
Gene: ENSMUSG00000030965
AA Change: R108Q

Domain	Start	End	E-Value	Type
coiled coil region	224	276	N/A	INTRINSIC
low complexity region	372	385	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106161
AA Change: R105Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101767
Gene: ENSMUSG00000030965
AA Change: R105Q

Domain	Start	End	E-Value	Type
coiled coil region	221	271	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000129552
AA Change: R103Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

silent
Transcript: ENSMUST00000134784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144225

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209767

Predicted Effect

probably benign
Transcript: ENSMUST00000147786

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Arhgap23	G	T	11: 97,335,154 (GRCm39)	V70L	probably benign	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Chn2	T	C	6: 54,267,436 (GRCm39)		probably benign	Het
Col18a1	T	C	10: 76,924,748 (GRCm39)	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,446,195 (GRCm39)	I461T	probably benign	Het
Dele1	G	A	18: 38,394,317 (GRCm39)	V505I	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Esyt2	A	G	12: 116,331,330 (GRCm39)	N736S	probably damaging	Het
F11	T	C	8: 45,702,114 (GRCm39)	T267A	probably benign	Het
Fam234b	T	G	6: 135,194,072 (GRCm39)	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,766,181 (GRCm39)	N11S	probably benign	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,879,620 (GRCm39)	T119A	probably benign	Het
Gm10647	A	G	9: 66,705,777 (GRCm39)		probably benign	Het
Gm10936	G	A	10: 117,084,035 (GRCm39)		noncoding transcript	Het
Gzmd	A	G	14: 56,367,161 (GRCm39)	W244R	probably damaging	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hira	T	A	16: 18,774,921 (GRCm39)	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,528,657 (GRCm39)		probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,002,168 (GRCm39)	M91L	probably benign	Het
Jkampl	A	G	6: 73,446,402 (GRCm39)	L49P	possibly damaging	Het
Kat2b	A	G	17: 53,948,238 (GRCm39)	E336G	probably damaging	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif23	C	G	9: 61,832,976 (GRCm39)		probably benign	Het
Lgi3	A	T	14: 70,770,261 (GRCm39)	I109L	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,479,006 (GRCm39)	V278A	probably benign	Het
Lrch3	T	A	16: 32,782,124 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Map9	G	A	3: 82,267,290 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,218,657 (GRCm39)		probably benign	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Mug2	G	T	6: 122,051,673 (GRCm39)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or4k5	T	G	14: 50,386,092 (GRCm39)	K80Q	probably damaging	Het
Or8d1b	A	G	9: 38,887,574 (GRCm39)	I201V	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,844,146 (GRCm39)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Prickle1	A	G	15: 93,408,658 (GRCm39)	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,695,459 (GRCm39)	C309S	probably benign	Het
Rapgef2	A	T	3: 79,011,412 (GRCm39)	S224R	probably damaging	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Siglecg	G	A	7: 43,060,595 (GRCm39)	G325D	probably damaging	Het
Skor2	A	T	18: 76,946,793 (GRCm39)	I172F	unknown	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
St14	T	A	9: 31,019,580 (GRCm39)		probably null	Het
Tas2r120	T	A	6: 132,634,552 (GRCm39)	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,168,734 (GRCm39)	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Tyms	A	G	5: 30,268,256 (GRCm39)	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,910,492 (GRCm39)	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,413,865 (GRCm39)	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,388,219 (GRCm39)	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,439,105 (GRCm39)	Y426H	probably benign	Het
Zfp948	A	T	17: 21,807,556 (GRCm39)	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,601,847 (GRCm39)		probably benign	Het
Zyg11a	G	A	4: 108,061,838 (GRCm39)	T321I	probably damaging	Het

Other mutations in Abraxas2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Abraxas2	APN	7	132,485,157 (GRCm39)	missense	probably benign	0.00
R0123:Abraxas2	UTSW	7	132,476,584 (GRCm39)	missense	probably damaging	1.00
R0670:Abraxas2	UTSW	7	132,470,760 (GRCm39)	critical splice acceptor site	probably null
R2145:Abraxas2	UTSW	7	132,484,790 (GRCm39)	missense	probably benign	0.27
R2244:Abraxas2	UTSW	7	132,484,940 (GRCm39)	missense	probably benign	0.00
R3839:Abraxas2	UTSW	7	132,484,867 (GRCm39)	missense	probably benign	0.03
R5133:Abraxas2	UTSW	7	132,484,875 (GRCm39)	missense	probably benign	0.01
R5260:Abraxas2	UTSW	7	132,461,003 (GRCm39)	missense	probably damaging	1.00
R6217:Abraxas2	UTSW	7	132,476,694 (GRCm39)	missense	probably damaging	1.00
R6305:Abraxas2	UTSW	7	132,476,694 (GRCm39)	missense	probably damaging	1.00
R6312:Abraxas2	UTSW	7	132,476,694 (GRCm39)	missense	probably damaging	1.00
R6313:Abraxas2	UTSW	7	132,476,694 (GRCm39)	missense	probably damaging	1.00
R6793:Abraxas2	UTSW	7	132,476,563 (GRCm39)	missense	probably damaging	1.00
R7350:Abraxas2	UTSW	7	132,476,578 (GRCm39)	missense	probably damaging	0.96
R8312:Abraxas2	UTSW	7	132,478,329 (GRCm39)	missense	probably damaging	1.00
R8470:Abraxas2	UTSW	7	132,476,685 (GRCm39)	missense	probably damaging	0.98
R8830:Abraxas2	UTSW	7	132,485,085 (GRCm39)	missense	probably damaging	1.00
R9480:Abraxas2	UTSW	7	132,473,323 (GRCm39)	missense	probably benign	0.19
R9687:Abraxas2	UTSW	7	132,482,577 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ccttaccagccctgCATACTTGATTT -3'
(R):5'- CCTGCGGTTTGGTCTAAAGAGAACATA -3'

Sequencing Primer
(F):5'- catctattttccacaccctacaac -3'
(R):5'- GCATGAGTAGAATTGTTGGCGG -3'

Posted On

2013-05-09