Incidental Mutation 'R6217:Abraxas2'
ID503781
Institutional Source Beutler Lab
Gene Symbol Abraxas2
Ensembl Gene ENSMUSG00000030965
Gene NameBRISC complex subunit
SynonymsC430003P19Rik, Fam175b, KIAA0157
MMRRC Submission 044350-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6217 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location132859225-132885111 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 132874965 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
coiled coil region 221 271 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 97% (59/61)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700074P13Rik G A 6: 40,926,085 P118S possibly damaging Het
Adamts20 T C 15: 94,338,715 D808G probably benign Het
Ankdd1a C T 9: 65,508,061 A227T possibly damaging Het
Arsk T A 13: 76,091,816 Q46L unknown Het
Asnsd1 A G 1: 53,348,028 F147L probably benign Het
Atp5a1 T A 18: 77,781,356 S427T probably benign Het
Atp6v1b2 A C 8: 69,109,878 probably null Het
AU021092 T A 16: 5,212,186 T322S possibly damaging Het
Bcl7c A T 7: 127,708,526 M1K probably null Het
Cacna1i T C 15: 80,389,132 V1673A probably damaging Het
Ccdc146 A T 5: 21,317,902 probably null Het
Cdc7 A G 5: 106,972,794 D122G probably damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,638,900 probably benign Het
Chd3 T A 11: 69,345,535 Q1950L probably damaging Het
Cutc T C 19: 43,759,997 L111S probably damaging Het
Cyp2j6 A G 4: 96,518,161 F458L probably damaging Het
Ddhd1 T C 14: 45,619,514 probably null Het
Dstyk T C 1: 132,459,939 S804P probably damaging Het
Ech1 A G 7: 28,831,836 D283G possibly damaging Het
Exosc10 A G 4: 148,582,311 probably null Het
Fam160b2 T C 14: 70,591,758 probably null Het
Fancg A C 4: 43,010,084 V5G probably benign Het
Fbxo11 A G 17: 88,008,904 V394A probably benign Het
Fcmr C T 1: 130,878,323 R339W probably damaging Het
Fsip2 T A 2: 82,988,418 L4832M possibly damaging Het
Gab1 A G 8: 80,791,608 V125A possibly damaging Het
Gabrr1 A T 4: 33,149,026 probably null Het
Gon4l T C 3: 88,892,661 V871A possibly damaging Het
Hspg2 A G 4: 137,540,248 T2056A probably damaging Het
Lrrc3 T A 10: 77,901,009 T198S probably benign Het
Lsamp A T 16: 42,134,312 E174V possibly damaging Het
Ltbr C T 6: 125,307,454 V342M probably damaging Het
Muc16 A T 9: 18,655,446 S1926T unknown Het
Ntn1 C A 11: 68,213,332 V497F possibly damaging Het
Olfr181 T C 16: 58,926,514 D19G probably benign Het
Olfr700 A T 7: 106,806,072 L130Q probably damaging Het
Olfr936 A T 9: 39,046,743 *270R probably null Het
Osmr T C 15: 6,823,566 Y615C probably damaging Het
Pcdhgb2 T C 18: 37,690,001 V15A possibly damaging Het
Pkd2l2 A G 18: 34,414,680 N162S probably benign Het
Ppp1r12a G A 10: 108,240,184 probably null Het
Prtg C T 9: 72,904,794 P899S probably damaging Het
Ptprn A T 1: 75,248,166 S912R probably damaging Het
Rex2 A G 4: 147,057,474 T140A possibly damaging Het
Ryr2 T G 13: 11,834,078 D339A probably damaging Het
Sf3b1 C T 1: 55,007,518 R289H probably damaging Het
Slc17a9 A G 2: 180,737,662 D309G probably benign Het
Slc4a10 A G 2: 62,303,951 R1004G probably benign Het
Sprr2f A T 3: 92,366,059 Q55L unknown Het
Syne1 C T 10: 5,293,761 G2801D probably benign Het
Tenm3 A T 8: 48,293,665 V1026D probably damaging Het
Ticam1 A T 17: 56,270,730 I455N probably damaging Het
Tmem161b A G 13: 84,251,244 I6M possibly damaging Het
Ubn1 A G 16: 5,077,232 E714G probably damaging Het
Ush2a T G 1: 188,743,454 probably null Het
Usp19 G A 9: 108,500,144 V874M probably damaging Het
Vmn2r106 T C 17: 20,268,239 T633A probably benign Het
Vmn2r75 A T 7: 86,166,167 probably benign Het
Zfyve27 T C 19: 42,189,577 V386A probably damaging Het
Zscan20 A T 4: 128,604,534 W24R probably damaging Het
Other mutations in Abraxas2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Abraxas2 APN 7 132883428 missense probably benign 0.00
R0123:Abraxas2 UTSW 7 132874855 missense probably damaging 1.00
R0225:Abraxas2 UTSW 7 132874855 missense probably damaging 1.00
R0670:Abraxas2 UTSW 7 132869031 critical splice acceptor site probably null
R2145:Abraxas2 UTSW 7 132883061 missense probably benign 0.27
R2244:Abraxas2 UTSW 7 132883211 missense probably benign 0.00
R3839:Abraxas2 UTSW 7 132883138 missense probably benign 0.03
R5133:Abraxas2 UTSW 7 132883146 missense probably benign 0.01
R5260:Abraxas2 UTSW 7 132859274 missense probably damaging 1.00
R6305:Abraxas2 UTSW 7 132874965 missense probably damaging 1.00
R6312:Abraxas2 UTSW 7 132874965 missense probably damaging 1.00
R6313:Abraxas2 UTSW 7 132874965 missense probably damaging 1.00
R6793:Abraxas2 UTSW 7 132874834 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGCTCTTAATACTTTGCTGTCG -3'
(R):5'- AAGCAAATTAAGTGTCCACCG -3'

Sequencing Primer
(F):5'- CTTAATACTTTGCTGTCGTCTGG -3'
(R):5'- TTTGATTGGCAAGCAAACCCCTG -3'
Posted On2018-02-27