Mutagenetix > Incidental Mutation

Incidental Mutation 'R6305:Abraxas2'

509593

Institutional Source

Beutler Lab

Gene Symbol

Abraxas2

Ensembl Gene

ENSMUSG00000030965

Gene Name

BRISC complex subunit

Synonyms

KIAA0157, Fam175b, C430003P19Rik

MMRRC Submission

044411-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132460954-132486840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 132476694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 145 (A145T)

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 damaging
Transcript: ENSMUST00000084497
AA Change: A145T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081541
Gene: ENSMUSG00000030965
AA Change: A145T

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: A142T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101767
Gene: ENSMUSG00000030965
AA Change: A142T

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

possibly damaging
Transcript: ENSMUST00000129552
AA Change: A140T

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

unknown
Transcript: ENSMUST00000134784
AA Change: R86H

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138436

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144225

Predicted Effect

probably benign
Transcript: ENSMUST00000147786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211184

Meta Mutation Damage Score

0.1104

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,773,741 (GRCm39)	S977P	probably damaging	Het
Adcy6	T	A	15: 98,496,526 (GRCm39)	I550L	probably benign	Het
Agbl3	G	A	6: 34,759,145 (GRCm39)	D19N	unknown	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arhgap39	T	A	15: 76,621,902 (GRCm39)	D233V	probably benign	Het
Bcl9	G	A	3: 97,113,254 (GRCm39)	P1067L	possibly damaging	Het
Casd1	C	T	6: 4,641,892 (GRCm39)	T723I	probably damaging	Het
Cd209g	T	A	8: 4,186,809 (GRCm39)	I118N	probably benign	Het
Cdh24	A	T	14: 54,869,813 (GRCm39)	D701E	possibly damaging	Het
Chd9	C	T	8: 91,757,174 (GRCm39)	P1858S	possibly damaging	Het
Csnk1g3	T	A	18: 54,065,384 (GRCm39)	Y322*	probably null	Het
Cyp2f2	G	A	7: 26,828,649 (GRCm39)	R173H	probably damaging	Het
D130043K22Rik	T	C	13: 25,069,668 (GRCm39)	F909S	probably damaging	Het
Dll4	T	A	2: 119,161,138 (GRCm39)	S299T	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dsg4	T	A	18: 20,582,847 (GRCm39)	Y162N	probably damaging	Het
Enpp1	T	C	10: 24,517,780 (GRCm39)	Y882C	probably damaging	Het
Fbxw7	T	A	3: 84,883,630 (GRCm39)	N520K	probably damaging	Het
Galc	C	T	12: 98,225,549 (GRCm39)	A14T	possibly damaging	Het
Grm7	G	A	6: 111,335,626 (GRCm39)	R679Q	probably damaging	Het
Hnrnpdl	T	C	5: 100,186,517 (GRCm39)		probably benign	Het
Il12a	A	T	3: 68,601,511 (GRCm39)	K77N	possibly damaging	Het
Il17rd	C	T	14: 26,817,899 (GRCm39)	S196L	possibly damaging	Het
Kcnv2	T	C	19: 27,301,237 (GRCm39)	F363L	probably benign	Het
Lair1	A	G	7: 4,013,727 (GRCm39)		probably null	Het
Lrit3	G	A	3: 129,594,109 (GRCm39)	T156I	probably damaging	Het
Me2	T	A	18: 73,924,915 (GRCm39)	R267S	probably benign	Het
Mga	T	C	2: 119,778,179 (GRCm39)	V1908A	probably benign	Het
Mylk3	T	A	8: 86,077,048 (GRCm39)	I463F	probably damaging	Het
Neb	G	A	2: 52,141,775 (GRCm39)	R75*	probably null	Het
Niban1	T	C	1: 151,571,469 (GRCm39)	L248P	probably damaging	Het
Or10a3b	C	T	7: 108,444,761 (GRCm39)	G152D	possibly damaging	Het
Or1j11	T	A	2: 36,311,634 (GRCm39)	S75T	probably damaging	Het
Or5p50	T	G	7: 107,421,864 (GRCm39)	T271P	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b36	TG	TGGTGTTGG	9: 37,937,838 (GRCm39)		probably null	Het
Or8k33	A	G	2: 86,383,839 (GRCm39)	S210P	possibly damaging	Het
Pfas	A	G	11: 68,892,023 (GRCm39)	S162P	possibly damaging	Het
Pip5k1c	T	A	10: 81,151,768 (GRCm39)	V654E	probably benign	Het
Plxdc1	C	A	11: 97,829,416 (GRCm39)	C318F	probably damaging	Het
Qrfprl	A	T	6: 65,431,975 (GRCm39)	M293L	probably benign	Het
Rbm8a2	T	C	1: 175,806,312 (GRCm39)	D55G	probably benign	Het
Rexo5	A	T	7: 119,427,348 (GRCm39)	K419N	probably damaging	Het
Septin4	C	T	11: 87,458,145 (GRCm39)	T173M	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc24a4	C	A	12: 102,188,360 (GRCm39)	T151K	possibly damaging	Het
Slc6a15	A	T	10: 103,225,031 (GRCm39)	I40F	probably benign	Het
Slc6a21	T	C	7: 44,930,028 (GRCm39)	V172A	possibly damaging	Het
Thrap3	A	G	4: 126,074,600 (GRCm39)		probably benign	Het
Tm9sf3	A	G	19: 41,233,881 (GRCm39)		probably null	Het
Trp53	A	T	11: 69,479,533 (GRCm39)	H211L	probably damaging	Het
Ttc21b	A	T	2: 66,018,614 (GRCm39)	N1264K	probably damaging	Het
Vmn1r120	A	T	7: 20,787,531 (GRCm39)	V60E	possibly damaging	Het
Ylpm1	A	G	12: 85,077,319 (GRCm39)	E890G	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp934	T	C	13: 62,666,370 (GRCm39)	Y102C	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
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
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'- GAGCTCTTAATACTTTGCTGTCG -3'
(R):5'- GCAAATTAAGTGTCCACCGATAAG -3'

Sequencing Primer
(F):5'- CTTAATACTTTGCTGTCGTCTGG -3'
(R):5'- TTTGATTGGCAAGCAAACCCCTG -3'

Posted On

2018-04-02