Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00091:Abraxas2'

1434

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abraxas2

Ensembl Gene

ENSMUSG00000030965

Gene Name

BRISC complex subunit

Synonyms

KIAA0157, Fam175b, C430003P19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00091

Quality Score

Status

Chromosome

Chromosomal Location

132460954-132486840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132485157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 400 (Y400F)

Ref Sequence

ENSEMBL: ENSMUSP00000081541 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000084497
AA Change: Y400F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000081541
Gene: ENSMUSG00000030965
AA Change: Y400F

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 benign
Transcript: ENSMUST00000106161

SMART Domains

Protein: ENSMUSP00000101767
Gene: ENSMUSG00000030965

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 benign
Transcript: ENSMUST00000129552

Predicted Effect

probably benign
Transcript: ENSMUST00000134784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138436

Predicted Effect

probably benign
Transcript: ENSMUST00000147786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209767

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	C	A	9: 30,864,796 (GRCm39)	T429K	probably damaging	Het
Adgrv1	C	T	13: 81,726,220 (GRCm39)	D602N	probably damaging	Het
Ano7	A	T	1: 93,329,888 (GRCm39)	H775L	probably benign	Het
Apoo-ps	A	T	13: 107,551,134 (GRCm39)		noncoding transcript	Het
Arid2	T	C	15: 96,270,183 (GRCm39)	V1432A	probably benign	Het
Atoh1	T	C	6: 64,706,568 (GRCm39)	S88P	possibly damaging	Het
C130050O18Rik	A	G	5: 139,400,601 (GRCm39)	E218G	probably damaging	Het
Cacna2d1	T	A	5: 16,417,942 (GRCm39)	F155L	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cyp1a2	G	T	9: 57,589,352 (GRCm39)	S154*	probably null	Het
Cyp3a25	A	T	5: 145,938,273 (GRCm39)	Y68*	probably null	Het
Dmbt1	C	A	7: 130,681,270 (GRCm39)		probably benign	Het
Dnajc22	T	A	15: 98,999,059 (GRCm39)	F81L	possibly damaging	Het
Eml5	G	A	12: 98,839,468 (GRCm39)		probably benign	Het
Fpgs	A	T	2: 32,576,559 (GRCm39)		probably benign	Het
Gab2	T	C	7: 96,951,650 (GRCm39)	S537P	possibly damaging	Het
Gmds	G	A	13: 32,418,373 (GRCm39)	S37L	probably damaging	Het
Ipo13	T	C	4: 117,760,602 (GRCm39)	E626G	probably benign	Het
Kcng1	T	C	2: 168,110,684 (GRCm39)	H160R	probably benign	Het
Lama3	A	G	18: 12,713,349 (GRCm39)	T1608A	probably benign	Het
Lama4	A	C	10: 38,948,801 (GRCm39)	S855R	probably damaging	Het
Ltbp1	C	T	17: 75,532,333 (GRCm39)	H454Y	probably damaging	Het
Map3k14	C	A	11: 103,118,405 (GRCm39)	G594C	probably damaging	Het
Mcph1	A	G	8: 18,682,636 (GRCm39)	N591S	possibly damaging	Het
Moxd1	G	A	10: 24,155,762 (GRCm39)	V289I	probably damaging	Het
Mptx2	T	G	1: 173,102,455 (GRCm39)	N78T	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Muc6	A	C	7: 141,218,497 (GRCm39)	S2059A	probably benign	Het
Nup50	T	A	15: 84,819,605 (GRCm39)	F293Y	probably benign	Het
Ogn	A	G	13: 49,774,514 (GRCm39)	Y219C	probably damaging	Het
Pdia3	T	C	2: 121,244,659 (GRCm39)	L47P	probably damaging	Het
Piwil4	A	T	9: 14,614,393 (GRCm39)	D786E	probably damaging	Het
Pspc1	A	G	14: 57,009,168 (GRCm39)	L222P	probably damaging	Het
Ptchd3	T	A	11: 121,721,972 (GRCm39)	Y282N	probably damaging	Het
Reln	C	A	5: 22,244,563 (GRCm39)	G805V	possibly damaging	Het
Serpini2	T	C	3: 75,156,549 (GRCm39)	Y327C	probably damaging	Het
Spire2	A	G	8: 124,080,798 (GRCm39)	D14G	probably damaging	Het
Stab2	A	T	10: 86,705,070 (GRCm39)		probably null	Het
Timeless	T	C	10: 128,077,577 (GRCm39)	L219P	probably damaging	Het
Tmem63a	C	T	1: 180,790,653 (GRCm39)	T437M	probably damaging	Het
Tslp	A	G	18: 32,948,448 (GRCm39)		probably benign	Het
Ttbk2	C	A	2: 120,579,314 (GRCm39)	G534*	probably null	Het
Uggt1	T	C	1: 36,218,633 (GRCm39)		probably benign	Het
Vmn2r118	T	C	17: 55,899,708 (GRCm39)	E732G	probably damaging	Het
Zfhx2	G	A	14: 55,304,022 (GRCm39)	P1321S	possibly damaging	Het
Zfp58	A	G	13: 67,639,114 (GRCm39)	V459A	probably benign	Het
Zfp831	T	C	2: 174,487,451 (GRCm39)	S709P	possibly damaging	Het

Other mutations in Abraxas2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0123:Abraxas2	UTSW	7	132,476,584 (GRCm39)	missense	probably damaging	1.00
R0225: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

Posted On

2011-07-12