Incidental Mutation 'R7059:Abraxas1'
ID 548118
Institutional Source Beutler Lab
Gene Symbol Abraxas1
Ensembl Gene ENSMUSG00000035234
Gene Name BRCA1 A complex subunit
Synonyms 3830405G04Rik, Ccdc98, Fam175a, 5630400M01Rik
MMRRC Submission 045156-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R7059 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 100953058-100968831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100954103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 349 (D349G)
Ref Sequence ENSEMBL: ENSMUSP00000143465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016977] [ENSMUST00000044535] [ENSMUST00000055245] [ENSMUST00000112898] [ENSMUST00000112901] [ENSMUST00000117364] [ENSMUST00000129358] [ENSMUST00000153302] [ENSMUST00000198453] [ENSMUST00000200657]
AlphaFold Q8BPZ8
Predicted Effect probably benign
Transcript: ENSMUST00000016977
SMART Domains Protein: ENSMUSP00000016977
Gene: ENSMUSG00000016833

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 70 121 1.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044535
Predicted Effect probably benign
Transcript: ENSMUST00000055245
AA Change: D349G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000055895
Gene: ENSMUSG00000035234
AA Change: D349G

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112898
Predicted Effect probably benign
Transcript: ENSMUST00000112901
SMART Domains Protein: ENSMUSP00000108522
Gene: ENSMUSG00000016833

DomainStartEndE-ValueType
Pfam:Ribosomal_S18 67 119 9.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117364
AA Change: D349G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000114050
Gene: ENSMUSG00000035234
AA Change: D349G

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129358
Predicted Effect probably benign
Transcript: ENSMUST00000153302
Predicted Effect probably benign
Transcript: ENSMUST00000198453
Predicted Effect probably benign
Transcript: ENSMUST00000200657
AA Change: D349G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000143465
Gene: ENSMUSG00000035234
AA Change: D349G

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,509 (GRCm39) probably benign Het
Abca16 A G 7: 120,020,971 (GRCm39) T5A probably benign Het
Adcyap1r1 T A 6: 55,468,295 (GRCm39) L405Q probably damaging Het
Aqp5 A T 15: 99,492,127 (GRCm39) T125S probably benign Het
Asah1 A T 8: 41,800,106 (GRCm39) N169K probably damaging Het
Atl3 A G 19: 7,511,333 (GRCm39) N515D probably benign Het
Atl3 A C 19: 7,511,334 (GRCm39) N520T probably benign Het
Atp6v1c2 C A 12: 17,339,005 (GRCm39) E249* probably null Het
Bcl2a1b T A 9: 89,081,813 (GRCm39) I134K probably damaging Het
Brd10 T A 19: 29,696,945 (GRCm39) E849D probably benign Het
Btbd10 C T 7: 112,929,129 (GRCm39) R159H probably damaging Het
Chmp6 T C 11: 119,806,866 (GRCm39) F7L probably damaging Het
Colq C A 14: 31,247,991 (GRCm39) C409F probably damaging Het
Cpox T A 16: 58,491,290 (GRCm39) V167E probably damaging Het
Cul3 T C 1: 80,254,141 (GRCm39) Y545C probably benign Het
Dqx1 C T 6: 83,041,790 (GRCm39) A544V probably benign Het
Dzip3 A G 16: 48,801,305 (GRCm39) I73T probably benign Het
Epha3 T A 16: 63,388,818 (GRCm39) Y810F probably damaging Het
Esp36 A T 17: 38,727,942 (GRCm39) I113N unknown Het
Fbxw17 T A 13: 50,586,584 (GRCm39) W429R probably damaging Het
Fcrl2 A T 3: 87,164,647 (GRCm39) I293N possibly damaging Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Gm8126 T A 14: 43,118,975 (GRCm39) L148H probably benign Het
Gpr39 C A 1: 125,605,696 (GRCm39) S208Y probably damaging Het
Heatr5a T C 12: 51,935,017 (GRCm39) E1662G probably damaging Het
Hgfac T A 5: 35,201,773 (GRCm39) L302Q possibly damaging Het
Itih1 G A 14: 30,653,266 (GRCm39) H721Y possibly damaging Het
Kat8 A G 7: 127,524,075 (GRCm39) I372V probably benign Het
Kcnk1 T A 8: 126,756,466 (GRCm39) Y329* probably null Het
Kcns2 A T 15: 34,838,981 (GRCm39) I115F probably damaging Het
Kif1a C T 1: 92,974,551 (GRCm39) probably benign Het
Lcn2 T A 2: 32,277,608 (GRCm39) D127V possibly damaging Het
Lrfn1 T C 7: 28,166,355 (GRCm39) V583A possibly damaging Het
Map3k1 T C 13: 111,909,312 (GRCm39) I55V probably benign Het
Mapk9 T C 11: 49,757,874 (GRCm39) probably null Het
Mrpl18 A G 17: 13,132,668 (GRCm39) S154P possibly damaging Het
Mst1 C A 9: 107,961,263 (GRCm39) H524Q probably benign Het
Mtpap T C 18: 4,396,202 (GRCm39) L498P probably damaging Het
Myl3 C T 9: 110,571,105 (GRCm39) probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Mzf1 G T 7: 12,786,985 (GRCm39) S28R probably damaging Het
Olfm1 T C 2: 28,112,628 (GRCm39) S205P probably damaging Het
Or52e8 A T 7: 104,625,224 (GRCm39) probably null Het
Prrc2a G A 17: 35,376,364 (GRCm39) P809S probably damaging Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rbm48 A T 5: 3,640,625 (GRCm39) C251* probably null Het
Rxfp1 A T 3: 79,559,576 (GRCm39) V415E probably damaging Het
Slc12a6 T A 2: 112,183,257 (GRCm39) L748Q probably damaging Het
Slc19a3 T A 1: 83,000,090 (GRCm39) Y309F probably damaging Het
Slc36a1 A G 11: 55,114,498 (GRCm39) D192G probably damaging Het
Slc38a4 G T 15: 96,906,895 (GRCm39) S281* probably null Het
Syne1 A T 10: 5,296,859 (GRCm39) S1201T probably damaging Het
Tex15 C A 8: 34,064,758 (GRCm39) T1396K possibly damaging Het
Zswim8 G T 14: 20,764,641 (GRCm39) probably null Het
Other mutations in Abraxas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0658:Abraxas1 UTSW 5 100,965,827 (GRCm39) critical splice donor site probably null
R1591:Abraxas1 UTSW 5 100,957,505 (GRCm39) missense probably benign 0.00
R1779:Abraxas1 UTSW 5 100,965,822 (GRCm39) splice site probably benign
R2421:Abraxas1 UTSW 5 100,960,040 (GRCm39) missense possibly damaging 0.82
R2904:Abraxas1 UTSW 5 100,957,673 (GRCm39) missense probably benign 0.13
R4739:Abraxas1 UTSW 5 100,959,886 (GRCm39) missense probably damaging 1.00
R5563:Abraxas1 UTSW 5 100,960,040 (GRCm39) missense possibly damaging 0.82
R5596:Abraxas1 UTSW 5 100,966,403 (GRCm39) missense probably damaging 1.00
R5631:Abraxas1 UTSW 5 100,965,840 (GRCm39) missense probably damaging 1.00
R5903:Abraxas1 UTSW 5 100,965,824 (GRCm39) splice site probably null
R5983:Abraxas1 UTSW 5 100,955,777 (GRCm39) missense probably benign
R7818:Abraxas1 UTSW 5 100,954,176 (GRCm39) missense probably benign 0.04
R7846:Abraxas1 UTSW 5 100,954,698 (GRCm39) missense probably damaging 0.99
R9333:Abraxas1 UTSW 5 100,959,939 (GRCm39) missense probably damaging 1.00
R9382:Abraxas1 UTSW 5 100,957,649 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCCCGAAACCTCAGTCTAG -3'
(R):5'- CAGAGTCTGAAGTTCTTCATTCTTGC -3'

Sequencing Primer
(F):5'- CCTCAGTCTAGTAAGAAATGTCGTC -3'
(R):5'- GAAGTTCTTCATTCTTGCGTTATTTC -3'
Posted On 2019-05-13