Incidental Mutation 'R2904:Abraxas1'
ID 261573
Institutional Source Beutler Lab
Gene Symbol Abraxas1
Ensembl Gene ENSMUSG00000035234
Gene Name BRCA1 A complex subunit
Synonyms 3830405G04Rik, Ccdc98, Fam175a, 5630400M01Rik
MMRRC Submission 040491-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R2904 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 100953058-100968831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100957673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 182 (E182G)
Ref Sequence ENSEMBL: ENSMUSP00000143465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044535] [ENSMUST00000055245] [ENSMUST00000117364] [ENSMUST00000129358] [ENSMUST00000153302] [ENSMUST00000200657]
AlphaFold Q8BPZ8
Predicted Effect probably benign
Transcript: ENSMUST00000044535
AA Change: E182G

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000055245
AA Change: E182G

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000055895
Gene: ENSMUSG00000035234
AA Change: E182G

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117364
AA Change: E182G

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114050
Gene: ENSMUSG00000035234
AA Change: E182G

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145429
Predicted Effect probably benign
Transcript: ENSMUST00000153302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199779
Predicted Effect probably benign
Transcript: ENSMUST00000200657
AA Change: E182G

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143465
Gene: ENSMUSG00000035234
AA Change: E182G

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (30/31)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 C G 12: 84,090,377 (GRCm39) T358S probably benign Het
Ap2a2 A G 7: 141,199,391 (GRCm39) K433E probably damaging Het
Card11 T A 5: 140,874,888 (GRCm39) D592V probably benign Het
Col12a1 G T 9: 79,559,307 (GRCm39) S1860R probably damaging Het
Crisp1 C T 17: 40,623,895 (GRCm39) probably null Het
Dzip1l A G 9: 99,545,722 (GRCm39) E657G probably damaging Het
Gak T C 5: 108,772,080 (GRCm39) N79S possibly damaging Het
Gm9791 T C 3: 34,059,336 (GRCm39) noncoding transcript Het
Gmpr2 T C 14: 55,910,215 (GRCm39) V15A probably damaging Het
Hectd4 T C 5: 121,430,787 (GRCm39) probably benign Het
Ift56 T C 6: 38,378,037 (GRCm39) V283A possibly damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kdm4b G A 17: 56,662,884 (GRCm39) G152S probably benign Het
Kdm6b G A 11: 69,296,611 (GRCm39) T552I possibly damaging Het
Kdr T C 5: 76,127,069 (GRCm39) Y307C probably damaging Het
Kif11 T C 19: 37,392,103 (GRCm39) probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Madd C T 2: 91,006,017 (GRCm39) V20M probably damaging Het
Mkrn3 C A 7: 62,068,207 (GRCm39) R528L probably benign Het
Myom2 T C 8: 15,148,348 (GRCm39) V508A probably benign Het
Nav1 T C 1: 135,512,976 (GRCm39) D28G probably benign Het
Nlrp4b T A 7: 10,448,294 (GRCm39) W166R probably damaging Het
Or14j2 A T 17: 37,885,705 (GRCm39) L203Q possibly damaging Het
Or5p59 T C 7: 107,702,806 (GRCm39) Y97H probably benign Het
Rassf10 A T 7: 112,553,756 (GRCm39) D119V possibly damaging Het
Smarcc1 A G 9: 110,003,043 (GRCm39) N378D possibly damaging Het
Tas2r118 A G 6: 23,969,801 (GRCm39) F87L possibly damaging Het
Tasor2 T C 13: 3,632,185 (GRCm39) N772S possibly damaging Het
Trim21 A G 7: 102,209,178 (GRCm39) W282R probably benign Het
Uggt2 T A 14: 119,296,521 (GRCm39) Y447F possibly damaging Het
Zfp160 G A 17: 21,245,911 (GRCm39) V154I probably benign 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
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
R7059:Abraxas1 UTSW 5 100,954,103 (GRCm39) missense probably benign 0.06
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'- CTTCTTGTACAGCAGCATACATTTC -3'
(R):5'- GCTCATCTGGGATGATTCTTGC -3'

Sequencing Primer
(F):5'- TCCATCTTCATTAAAGAACTGAGAAC -3'
(R):5'- GGGATGATTCTTGCTAAATAATGAGG -3'
Posted On 2015-01-23