Mutagenetix > Incidental Mutation

Incidental Mutation 'R6312:Abraxas2'

509820

Institutional Source

Beutler Lab

Gene Symbol

Abraxas2

Ensembl Gene

ENSMUSG00000030965

Gene Name

BRISC complex subunit

Synonyms

KIAA0157, Fam175b, C430003P19Rik

MMRRC Submission

044415-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6312 (G1)

Quality Score

225.009

Status

Not 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: 99.4%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,936,541 (GRCm39)	S472P	possibly damaging	Het
Aadacl4fm1	A	T	4: 144,255,072 (GRCm39)	H164L	probably benign	Het
AC153874.1	T	A	10: 77,682,961 (GRCm39)		probably benign	Het
Acadvl	T	A	11: 69,902,593 (GRCm39)	M375L	probably damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arl4d	T	C	11: 101,558,079 (GRCm39)	*202R	probably null	Het
B3gat2	G	T	1: 23,854,548 (GRCm39)	E83*	probably null	Het
Bmper	C	A	9: 23,318,087 (GRCm39)	Q569K	possibly damaging	Het
C2cd4d	C	A	3: 94,271,742 (GRCm39)	P336H	probably damaging	Het
Cct2	A	T	10: 116,891,960 (GRCm39)	S363T	probably benign	Het
Cers5	A	G	15: 99,644,996 (GRCm39)	V119A	probably benign	Het
Cfhr2	C	T	1: 139,758,817 (GRCm39)	V78I	possibly damaging	Het
Crocc2	A	T	1: 93,143,432 (GRCm39)	K1345*	probably null	Het
Cyp4f39	T	C	17: 32,702,268 (GRCm39)	M255T	probably benign	Het
Dpp6	A	T	5: 27,930,669 (GRCm39)	I834F	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,671 (GRCm39)	K205*	probably null	Het
Epg5	T	A	18: 78,022,426 (GRCm39)	D1056E	possibly damaging	Het
Fam20a	A	C	11: 109,565,456 (GRCm39)	C452G	probably damaging	Het
Gnai2	A	T	9: 107,512,316 (GRCm39)	V34E	probably damaging	Het
Gng3	A	G	19: 8,815,997 (GRCm39)	V7A	probably benign	Het
Hdc	A	G	2: 126,449,326 (GRCm39)	V77A	possibly damaging	Het
Hint1	G	A	11: 54,760,816 (GRCm39)	C85Y	probably benign	Het
Kif17	C	T	4: 138,015,504 (GRCm39)	S551L	probably benign	Het
Lgr5	A	G	10: 115,288,829 (GRCm39)	L581P	probably damaging	Het
Lig4	G	T	8: 10,021,739 (GRCm39)	N680K	probably benign	Het
Lipi	T	A	16: 75,370,803 (GRCm39)	Y138F	probably damaging	Het
Lrp2	C	T	2: 69,267,025 (GRCm39)	G4294E	probably damaging	Het
Lrrc7	A	G	3: 157,866,246 (GRCm39)	M1165T	probably benign	Het
Mtpap	T	C	18: 4,396,175 (GRCm39)	I489T	possibly damaging	Het
Nlrp1b	T	A	11: 71,119,223 (GRCm39)	N24I	probably benign	Het
Nlrp4a	A	G	7: 26,148,821 (GRCm39)	T143A	probably benign	Het
Nudt2	A	G	4: 41,480,386 (GRCm39)	T90A	probably benign	Het
Or1j20	A	T	2: 36,760,477 (GRCm39)	I300L	probably benign	Het
Or52n20	T	A	7: 104,320,796 (GRCm39)	Y296N	probably damaging	Het
Or8b36	GTTT	GTTTGCTGTTTT	9: 37,937,842 (GRCm39)		probably null	Het
Or8b36	TTT	TTTGCTGATT	9: 37,937,843 (GRCm39)		probably null	Het
Or8b36	T	TGCTGTTC	9: 37,937,845 (GRCm39)		probably null	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Or8k53	A	T	2: 86,177,925 (GRCm39)	F62I	probably damaging	Het
Osmr	A	G	15: 6,853,119 (GRCm39)	V592A	probably damaging	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rusf1	T	C	7: 127,872,715 (GRCm39)	K411R	probably benign	Het
Slc6a7	A	G	18: 61,135,457 (GRCm39)	S381P	probably benign	Het
Slitrk6	A	G	14: 110,987,679 (GRCm39)	L676P	probably benign	Het
Sspo	T	C	6: 48,434,300 (GRCm39)		probably null	Het
Tectb	CT	C	19: 55,181,094 (GRCm39)		probably null	Homo
Tma16	T	C	8: 66,934,118 (GRCm39)	E79G	probably damaging	Het
Trim14	G	T	4: 46,507,257 (GRCm39)	H320N	probably damaging	Het
Trim63	A	G	4: 134,053,008 (GRCm39)	D323G	probably damaging	Het
Vash2	C	A	1: 190,690,880 (GRCm39)	R309L	probably benign	Het
Vmn1r62	G	A	7: 5,679,083 (GRCm39)	V255M	possibly damaging	Het
Vmn2r53	T	A	7: 12,332,566 (GRCm39)		probably null	Het
Zfp382	G	A	7: 29,833,963 (GRCm39)	R538H	probably damaging	Het
Zfp592	T	A	7: 80,673,184 (GRCm39)	D49E	probably benign	Het
Zfp60	T	C	7: 27,448,201 (GRCm39)	C290R	probably damaging	Het
Zfp69	G	A	4: 120,806,714 (GRCm39)		probably benign	Het
Zfp790	G	T	7: 29,527,647 (GRCm39)	G111W	probably damaging	Het
Zfp948	T	C	17: 21,807,429 (GRCm39)	I207T	possibly 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
R6305: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'- TGAGCTCTTAATACTTTGCTGTCG -3'
(R):5'- GCAAATTAAGTGTCCACCGATAAG -3'

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

Posted On

2018-04-02