Mutagenetix > Incidental Mutation

Incidental Mutation 'R3839:Abraxas2'

277049

Institutional Source

Beutler Lab

Gene Symbol

Abraxas2

Ensembl Gene

ENSMUSG00000030965

Gene Name

BRISC complex subunit

Synonyms

KIAA0157, Fam175b, C430003P19Rik

MMRRC Submission

040892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132460954-132486840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132484867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 303 (S303R)

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: S303R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000081541
Gene: ENSMUSG00000030965
AA Change: S303R

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: ENSMUST00000209767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211184

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
Ackr3	G	A	1: 90,141,850 (GRCm39)	S103N	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Aspm	C	T	1: 139,405,792 (GRCm39)	H1560Y	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Cald1	A	T	6: 34,722,700 (GRCm39)	D122V	probably damaging	Het
Cc2d2a	T	C	5: 43,876,056 (GRCm39)	V1011A	probably benign	Het
Cdh9	G	T	15: 16,823,524 (GRCm39)	E169*	probably null	Het
Cmbl	T	C	15: 31,582,144 (GRCm39)	V47A	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Ctnnd2	T	A	15: 31,009,174 (GRCm39)		probably null	Het
Cyp4a10	A	C	4: 115,382,544 (GRCm39)	E278A	possibly damaging	Het
Ddx56	T	C	11: 6,217,712 (GRCm39)	D3G	probably benign	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Eif3d	T	A	15: 77,848,300 (GRCm39)	T211S	probably benign	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Garnl3	C	T	2: 32,879,558 (GRCm39)	G923S	probably benign	Het
Gcnt4	A	T	13: 97,083,522 (GRCm39)	R273*	probably null	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Glra2	C	T	X: 164,072,612 (GRCm39)	V85I	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Gpr156	T	A	16: 37,808,962 (GRCm39)	V228D	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Itga3	A	G	11: 94,948,095 (GRCm39)		probably null	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Klhl40	A	G	9: 121,609,482 (GRCm39)	Y453C	possibly damaging	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Msn	C	A	X: 95,203,805 (GRCm39)	Q303K	probably damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Rala	A	T	13: 18,067,759 (GRCm39)	C91S	probably damaging	Het
Rps9	A	G	7: 3,709,823 (GRCm39)		probably benign	Het
Sdr16c5	C	A	4: 4,006,601 (GRCm39)	M230I	probably damaging	Het
Sec14l3	A	G	11: 4,021,544 (GRCm39)		probably null	Het
Senp2	T	C	16: 21,828,485 (GRCm39)	S32P	probably damaging	Het
Skor1	A	C	9: 63,051,730 (GRCm39)	S746R	probably damaging	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Slc47a1	G	T	11: 61,243,884 (GRCm39)		probably benign	Het
Slit3	A	T	11: 35,399,064 (GRCm39)	N143I	probably benign	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Tubb2a	G	T	13: 34,259,294 (GRCm39)	N165K	probably benign	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn2r109	A	G	17: 20,774,704 (GRCm39)	V217A	probably damaging	Het
Zfp108	A	G	7: 23,959,981 (GRCm39)	I191V	probably benign	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
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
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'- CCTGGACTTTCAACTCTGGC -3'
(R):5'- AGTGAACTTCAGTCCGCCAC -3'

Sequencing Primer
(F):5'- AACGGCCTCACTGTGTAACTG -3'
(R):5'- CACTGGTGGAAGCATAGCTG -3'

Posted On

2015-04-06