Incidental Mutation 'R5903:Abraxas1'
ID456435
Institutional Source Beutler Lab
Gene Symbol Abraxas1
Ensembl Gene ENSMUSG00000035234
Gene NameBRCA1 A complex subunit
Synonyms3830405G04Rik, Fam175a, Ccdc98, 5630400M01Rik
MMRRC Submission 044101-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.170) question?
Stock #R5903 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location100805192-100820965 bp(-) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) T to C at 100817958 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044535] [ENSMUST00000055245] [ENSMUST00000117364] [ENSMUST00000117364] [ENSMUST00000129358] [ENSMUST00000153302] [ENSMUST00000200657]
Predicted Effect probably benign
Transcript: ENSMUST00000044535
Predicted Effect probably null
Transcript: ENSMUST00000055245
SMART Domains Protein: ENSMUSP00000055895
Gene: ENSMUSG00000035234

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000117364
SMART Domains Protein: ENSMUSP00000114050
Gene: ENSMUSG00000035234

DomainStartEndE-ValueType
coiled coil region 210 261 N/A INTRINSIC
Predicted Effect probably null
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: ENSMUST00000131857
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145707
Predicted Effect probably benign
Transcript: ENSMUST00000153302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199779
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: 92.8%
Validation Efficiency 98% (58/59)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 65,988,318 V150A unknown Het
Actl7a G T 4: 56,743,827 R118L probably damaging Het
Atg2b T C 12: 105,639,359 D1449G possibly damaging Het
Atg7 G A 6: 114,706,293 W439* probably null Het
Atp6v0a2 T A 5: 124,712,279 I370N probably damaging Het
B4galt1 T C 4: 40,807,760 D347G probably damaging Het
Baz2b C T 2: 59,959,889 C660Y probably damaging Het
Ccdc88c T C 12: 100,930,542 Y1390C probably damaging Het
Cdcp1 G A 9: 123,173,772 Q745* probably null Het
Cep97 G A 16: 55,919,526 S185L probably damaging Het
Clec4d A G 6: 123,267,061 H43R probably damaging Het
Cntn3 T A 6: 102,242,133 M509L probably benign Het
Cntrob A C 11: 69,309,375 S564R possibly damaging Het
Cyp2j8 T A 4: 96,507,277 N37I possibly damaging Het
Edc4 A G 8: 105,890,587 T1029A probably benign Het
Fam160b2 A T 14: 70,591,681 V64E probably damaging Het
Fmnl1 G T 11: 103,171,444 probably null Het
Fzd6 T A 15: 39,007,388 M1K probably null Het
Gle1 C A 2: 29,940,281 T283N probably benign Het
Hsd17b14 T C 7: 45,565,962 V161A probably damaging Het
Hsf2 T C 10: 57,504,723 S218P probably benign Het
Ipo7 T A 7: 110,050,813 C736S probably damaging Het
Itpkb G T 1: 180,413,975 V737L probably damaging Het
Itpr1 T C 6: 108,489,797 probably benign Het
Kcnh8 G T 17: 52,803,336 V192L possibly damaging Het
Kctd10 G A 5: 114,380,462 probably benign Het
Kdm3a C A 6: 71,632,250 probably benign Het
Kif5a T A 10: 127,230,578 M990L probably benign Het
Klf12 A G 14: 100,022,688 S202P probably damaging Het
Krt81 T G 15: 101,460,202 Q390P probably damaging Het
Lrig3 T C 10: 126,008,478 S604P probably damaging Het
Ms4a1 A T 19: 11,258,248 V48D probably damaging Het
Mta1 C T 12: 113,136,619 P688L probably damaging Het
Oas1h T C 5: 120,870,977 V250A probably damaging Het
Olfr618 G T 7: 103,597,921 G202* probably null Het
Olfr95 A T 17: 37,211,021 Y277* probably null Het
P2rx3 T C 2: 85,000,727 E265G possibly damaging Het
Pdzd8 A G 19: 59,345,286 I101T possibly damaging Het
Psme4 A T 11: 30,841,589 N1148I probably benign Het
Rnf213 T C 11: 119,421,369 L874P probably damaging Het
Sart3 T C 5: 113,751,239 Y508C probably damaging Het
Sez6l2 T C 7: 126,970,133 probably benign Het
Slc9b1 C T 3: 135,392,894 probably benign Het
Stmn3 T C 2: 181,308,780 K78E possibly damaging Het
Thsd4 T A 9: 60,394,106 N302I possibly damaging Het
Trdv5 A T 14: 54,148,785 H74Q probably benign Het
Tubb4b C T 2: 25,223,981 R77H probably benign Het
Ugt1a6a C T 1: 88,215,123 P113L probably damaging Het
Unc5a T A 13: 54,999,690 C438S possibly damaging Het
Zan C A 5: 137,442,134 C1946F unknown Het
Other mutations in Abraxas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0658:Abraxas1 UTSW 5 100817961 critical splice donor site probably null
R1591:Abraxas1 UTSW 5 100809639 missense probably benign 0.00
R1779:Abraxas1 UTSW 5 100817956 splice site probably benign
R2421:Abraxas1 UTSW 5 100812174 missense possibly damaging 0.82
R2904:Abraxas1 UTSW 5 100809807 missense probably benign 0.13
R4739:Abraxas1 UTSW 5 100812020 missense probably damaging 1.00
R5563:Abraxas1 UTSW 5 100812174 missense possibly damaging 0.82
R5596:Abraxas1 UTSW 5 100818537 missense probably damaging 1.00
R5631:Abraxas1 UTSW 5 100817974 missense probably damaging 1.00
R5983:Abraxas1 UTSW 5 100807911 missense probably benign
R7059:Abraxas1 UTSW 5 100806237 missense probably benign 0.06
R7818:Abraxas1 UTSW 5 100806310 missense probably benign 0.04
R7846:Abraxas1 UTSW 5 100806832 missense probably damaging 0.99
R7929:Abraxas1 UTSW 5 100806832 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTTGATGTGGACTAGTGTACC -3'
(R):5'- TTCTAGCCCTGCATGTCTGG -3'

Sequencing Primer
(F):5'- GATGTGGACTAGTGTACCTTAGATAC -3'
(R):5'- CTGCATGTCTGGGAGTCAC -3'
Posted On2017-02-15