Incidental Mutation 'R5983:Abraxas1'
ID 481516
Institutional Source Beutler Lab
Gene Symbol Abraxas1
Ensembl Gene ENSMUSG00000035234
Gene Name BRCA1 A complex subunit
Synonyms 3830405G04Rik, Ccdc98, Fam175a, 5630400M01Rik
MMRRC Submission 044164-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R5983 (G1)
Quality Score 219.009
Status Validated
Chromosome 5
Chromosomal Location 100953058-100968831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100955777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 237 (V237A)
Ref Sequence ENSEMBL: ENSMUSP00000047692 (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
AA Change: V237A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000055245
SMART Domains Protein: ENSMUSP00000055895
Gene: ENSMUSG00000035234

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
SMART Domains Protein: ENSMUSP00000114050
Gene: ENSMUSG00000035234

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145429
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143477
Predicted Effect probably benign
Transcript: ENSMUST00000153302
Predicted Effect probably benign
Transcript: ENSMUST00000198453
Predicted Effect probably benign
Transcript: ENSMUST00000200657
SMART Domains Protein: ENSMUSP00000143465
Gene: ENSMUSG00000035234

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 100% (29/29)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T A 19: 43,807,942 (GRCm39) M861K probably benign Het
Abhd18 T A 3: 40,864,979 (GRCm39) F73L probably damaging Het
Adam26b T C 8: 43,974,378 (GRCm39) Y208C probably damaging Het
Aire A G 10: 77,878,903 (GRCm39) L48P probably damaging Het
Bach2 A T 4: 32,563,324 (GRCm39) E597V probably damaging Het
Ccdc170 A T 10: 4,470,851 (GRCm39) R232* probably null Het
Cfap100 A C 6: 90,396,373 (GRCm39) probably benign Het
Dppa2 G A 16: 48,136,204 (GRCm39) M185I probably benign Het
Ecsit C T 9: 21,989,443 (GRCm39) probably null Het
Fbxw26 A G 9: 109,547,033 (GRCm39) I464T possibly damaging Het
Grm8 T C 6: 27,760,220 (GRCm39) K370R probably benign Het
Ide C T 19: 37,249,549 (GRCm39) probably null Het
Katnip T A 7: 125,449,545 (GRCm39) W870R probably damaging Het
Morn3 T C 5: 123,175,851 (GRCm39) D179G possibly damaging Het
Nkapd1 A G 9: 50,519,142 (GRCm39) S157P probably damaging Het
Nvl A T 1: 180,964,471 (GRCm39) D102E probably benign Het
Or5an10 T A 19: 12,276,467 (GRCm39) I10F probably benign Het
Rbm5 G A 9: 107,622,141 (GRCm39) P611L probably damaging Het
Rsph9 A G 17: 46,440,406 (GRCm39) M230T probably benign Het
Sacs G A 14: 61,442,648 (GRCm39) V1565M probably damaging Het
Serpina3n T C 12: 104,375,288 (GRCm39) L120P probably damaging Het
Spsb2 A C 6: 124,786,711 (GRCm39) E148A probably benign Het
Tmc2 T A 2: 130,089,896 (GRCm39) M627K probably damaging Het
Tmem147 T C 7: 30,427,484 (GRCm39) D111G probably damaging Het
Ttn A G 2: 76,572,725 (GRCm39) V17729A possibly damaging Het
Vmn2r104 G A 17: 20,261,970 (GRCm39) P387S probably damaging Het
Zfp940 C T 7: 29,544,477 (GRCm39) V477M possibly damaging Het
Zw10 A G 9: 48,988,745 (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
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'- GCTCAGAGCAATCCCTTTCTTG -3'
(R):5'- CAAACTGGGAACAACGTCAG -3'

Sequencing Primer
(F):5'- GGGCATCCTCAGCGTTATTTTCAG -3'
(R):5'- TGGGAACAACGTCAGTATCTC -3'
Posted On 2017-06-26