Incidental Mutation 'R5563:Abraxas1'
ID 436698
Institutional Source Beutler Lab
Gene Symbol Abraxas1
Ensembl Gene ENSMUSG00000035234
Gene Name BRCA1 A complex subunit
Synonyms 3830405G04Rik, Ccdc98, Fam175a, 5630400M01Rik
MMRRC Submission 043120-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R5563 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 100953058-100968831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100960040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 104 (R104H)
Ref Sequence ENSEMBL: ENSMUSP00000143465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044535] [ENSMUST00000055245] [ENSMUST00000117364] [ENSMUST00000129358] [ENSMUST00000153302] [ENSMUST00000200657]
AlphaFold Q8BPZ8
Predicted Effect possibly damaging
Transcript: ENSMUST00000044535
AA Change: R104H

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000055245
AA Change: R104H

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000055895
Gene: ENSMUSG00000035234
AA Change: R104H

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000117364
AA Change: R104H

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114050
Gene: ENSMUSG00000035234
AA Change: R104H

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 possibly damaging
Transcript: ENSMUST00000200657
AA Change: R104H

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143465
Gene: ENSMUSG00000035234
AA Change: R104H

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
Meta Mutation Damage Score 0.1638 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 T C 19: 4,922,344 (GRCm39) H101R probably damaging Het
Akp3 T C 1: 87,053,646 (GRCm39) S174P probably damaging Het
Aldh5a1 C A 13: 25,102,609 (GRCm39) A285S possibly damaging Het
Atp7b G A 8: 22,518,730 (GRCm39) P36L possibly damaging Het
Cdh20 C T 1: 104,875,082 (GRCm39) P288L probably benign Het
Fktn T A 4: 53,761,327 (GRCm39) N481K probably damaging Het
Fmo5 C A 3: 97,546,207 (GRCm39) H173Q probably damaging Het
Fnip1 A G 11: 54,395,688 (GRCm39) R1021G probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Grin2a A G 16: 9,525,581 (GRCm39) F337L probably benign Het
Ighv3-1 T A 12: 113,928,206 (GRCm39) Y51F probably benign Het
Jcad A G 18: 4,673,944 (GRCm39) K569E possibly damaging Het
Mars1 T C 10: 127,144,530 (GRCm39) Q170R probably benign Het
Mfsd4b2 C T 10: 39,798,038 (GRCm39) E106K probably benign Het
Mical2 A G 7: 111,914,185 (GRCm39) D285G probably damaging Het
Mpp4 A G 1: 59,163,788 (GRCm39) probably null Het
Npat A G 9: 53,474,427 (GRCm39) I740V probably damaging Het
Parp6 G A 9: 59,535,956 (GRCm39) probably null Het
Plin2 T C 4: 86,580,341 (GRCm39) K140R probably benign Het
Prdm2 T C 4: 142,861,200 (GRCm39) T697A probably benign Het
Prkaa1 A G 15: 5,199,437 (GRCm39) E179G probably damaging Het
Prtg G A 9: 72,764,180 (GRCm39) R551H probably damaging Het
Psd4 A G 2: 24,284,897 (GRCm39) R254G probably benign Het
Rhpn2 T A 7: 35,070,652 (GRCm39) L194H probably damaging Het
Sp7 T C 15: 102,267,755 (GRCm39) D17G possibly damaging Het
Topbp1 T C 9: 103,188,712 (GRCm39) V128A possibly damaging Het
Uba5 G T 9: 103,926,446 (GRCm39) T372K probably benign Het
Vmn2r13 T A 5: 109,321,846 (GRCm39) I284L probably benign Het
Vmn2r68 T C 7: 84,871,283 (GRCm39) T667A probably damaging 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
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'- ACTGTATGAAGACACTTGGAGC -3'
(R):5'- AGCGCCATTTTAAGACAGGTAG -3'

Sequencing Primer
(F):5'- AGTCTACTTAAAATAGCCAGGACC -3'
(R):5'- AGTTTGAAGCCAGCCTGGTCTAC -3'
Posted On 2016-10-24