Incidental Mutation 'IGL02437:Brat1'
ID 293309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brat1
Ensembl Gene ENSMUSG00000000148
Gene Name BRCA1-associated ATM activator 1
Synonyms Baat1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # IGL02437
Quality Score
Status
Chromosome 5
Chromosomal Location 140690766-140705134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140698563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 245 (A245V)
Ref Sequence ENSEMBL: ENSMUSP00000114216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041588] [ENSMUST00000100505] [ENSMUST00000110806] [ENSMUST00000153440]
AlphaFold Q8C3R1
Predicted Effect possibly damaging
Transcript: ENSMUST00000041588
AA Change: A245V

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000036016
Gene: ENSMUSG00000000148
AA Change: A245V

DomainStartEndE-ValueType
low complexity region 90 105 N/A INTRINSIC
low complexity region 402 413 N/A INTRINSIC
low complexity region 443 454 N/A INTRINSIC
low complexity region 486 498 N/A INTRINSIC
Pfam:HEAT 501 531 3e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100505
AA Change: A290V

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098074
Gene: ENSMUSG00000000148
AA Change: A290V

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
low complexity region 135 150 N/A INTRINSIC
low complexity region 447 458 N/A INTRINSIC
low complexity region 488 499 N/A INTRINSIC
low complexity region 531 543 N/A INTRINSIC
Pfam:HEAT 546 576 4.4e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110806
AA Change: A245V

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000106429
Gene: ENSMUSG00000000148
AA Change: A245V

DomainStartEndE-ValueType
low complexity region 90 105 N/A INTRINSIC
low complexity region 402 413 N/A INTRINSIC
low complexity region 443 454 N/A INTRINSIC
low complexity region 486 498 N/A INTRINSIC
Pfam:HEAT 501 531 4.2e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131905
Predicted Effect possibly damaging
Transcript: ENSMUST00000153440
AA Change: A245V

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114216
Gene: ENSMUSG00000000148
AA Change: A245V

DomainStartEndE-ValueType
SCOP:d1gw5a_ 2 172 2e-3 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: A similar gene in human encodes a Breast Cancer 1 (BRCA1) interacting protein that is involved in cell cycle checkpoint signaling. The similar human protein is localized to DNA double strand breaks caused by ionizing radiation, and regulates cellular DNA damage response through interactions with Ataxia Telangiectasia Mutated (ATM) and DNA-dependent Protein Kinase. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abca16 T G 7: 120,132,952 (GRCm39) C1294G probably benign Het
Abca7 T A 10: 79,844,223 (GRCm39) S1410T probably damaging Het
Abhd12 T C 2: 150,676,289 (GRCm39) D356G probably benign Het
BC004004 T C 17: 29,517,671 (GRCm39) L295P probably damaging Het
Bpifc T C 10: 85,824,595 (GRCm39) S215G probably damaging Het
Bptf C T 11: 106,965,521 (GRCm39) M1109I probably benign Het
Cask G A X: 13,403,860 (GRCm39) T16I probably damaging Het
Cemip2 T C 19: 21,789,342 (GRCm39) probably null Het
Cibar2 T C 8: 120,901,525 (GRCm39) E60G probably damaging Het
Clic6 A T 16: 92,327,817 (GRCm39) I541F probably damaging Het
Clnk C T 5: 38,931,909 (GRCm39) probably null Het
Cntnap1 T A 11: 101,077,677 (GRCm39) I1113N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp26a1 T C 19: 37,686,943 (GRCm39) S132P probably benign Het
Cyp4f13 G T 17: 33,149,582 (GRCm39) H85N probably benign Het
Dcaf15 C T 8: 84,828,445 (GRCm39) G215D probably damaging Het
Dip2a T C 10: 76,134,101 (GRCm39) T500A probably benign Het
Gbe1 T A 16: 70,231,546 (GRCm39) probably benign Het
Gli2 T A 1: 118,763,733 (GRCm39) I1473F probably damaging Het
Gm5129 A T 5: 29,940,861 (GRCm39) probably benign Het
Hdgf C T 3: 87,821,792 (GRCm39) R168C probably damaging Het
Heph A G X: 95,516,633 (GRCm39) T342A probably benign Het
Kdelr3 T C 15: 79,409,988 (GRCm39) Y158H probably damaging Het
Lamb3 C T 1: 193,010,253 (GRCm39) R289C probably damaging Het
Leng8 C T 7: 4,145,092 (GRCm39) A164V probably damaging Het
Ltn1 T C 16: 87,194,889 (GRCm39) T1337A probably benign Het
Mast3 C A 8: 71,233,202 (GRCm39) R316L possibly damaging Het
Nampt A G 12: 32,880,215 (GRCm39) Y36C probably damaging Het
Ncapd3 T A 9: 26,975,264 (GRCm39) probably benign Het
Nipbl T C 15: 8,388,558 (GRCm39) D354G probably damaging Het
Nsd1 A T 13: 55,461,254 (GRCm39) R2494W probably damaging Het
Nt5c1a A G 4: 123,108,034 (GRCm39) N239S probably benign Het
Ogfr A G 2: 180,231,329 (GRCm39) E19G possibly damaging Het
Or11h4b A T 14: 50,918,657 (GRCm39) S145T probably benign Het
Or4c58 A G 2: 89,675,128 (GRCm39) L63P probably damaging Het
Pcna A T 2: 132,093,155 (GRCm39) probably benign Het
Pdia3 T A 2: 121,264,129 (GRCm39) V326E probably damaging Het
Phf8 T A X: 150,414,356 (GRCm39) L1002Q possibly damaging Het
Rhobtb2 T C 14: 70,033,365 (GRCm39) E535G probably damaging Het
Rusc2 G T 4: 43,415,545 (GRCm39) D284Y probably damaging Het
Samd8 A G 14: 21,825,491 (GRCm39) Y212C probably benign Het
Sash3 C A X: 47,247,672 (GRCm39) Q169K probably benign Het
Scyl1 C T 19: 5,816,224 (GRCm39) G324S probably damaging Het
Sec62 G A 3: 30,872,996 (GRCm39) G360R unknown Het
Sis T C 3: 72,826,947 (GRCm39) probably null Het
Slc6a1 T A 6: 114,285,578 (GRCm39) I338N probably damaging Het
Snrnp200 A G 2: 127,058,030 (GRCm39) D264G probably damaging Het
Tgm3 G T 2: 129,871,961 (GRCm39) probably null Het
Tnrc6b T G 15: 80,764,658 (GRCm39) L720R probably damaging Het
Tspyl4 A T 10: 34,174,228 (GRCm39) Q240L probably damaging Het
Tube1 G A 10: 39,016,846 (GRCm39) V80I probably damaging Het
Uap1l1 C T 2: 25,253,945 (GRCm39) V304M probably damaging Het
Wtap T C 17: 13,186,620 (GRCm39) N309S probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfyve26 T C 12: 79,315,621 (GRCm39) D1285G probably benign Het
Zscan20 G A 4: 128,482,210 (GRCm39) T484I probably damaging Het
Other mutations in Brat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Brat1 APN 5 140,702,932 (GRCm39) missense probably damaging 1.00
IGL01327:Brat1 APN 5 140,703,963 (GRCm39) nonsense probably null
IGL01897:Brat1 APN 5 140,703,670 (GRCm39) missense probably benign 0.00
IGL01965:Brat1 APN 5 140,703,811 (GRCm39) missense probably benign 0.01
IGL03350:Brat1 APN 5 140,691,750 (GRCm39) missense probably damaging 1.00
R0394:Brat1 UTSW 5 140,704,141 (GRCm39) missense probably damaging 1.00
R1256:Brat1 UTSW 5 140,695,962 (GRCm39) missense possibly damaging 0.87
R1426:Brat1 UTSW 5 140,703,768 (GRCm39) missense probably benign 0.00
R1474:Brat1 UTSW 5 140,698,382 (GRCm39) missense probably benign
R1848:Brat1 UTSW 5 140,704,264 (GRCm39) missense possibly damaging 0.94
R2205:Brat1 UTSW 5 140,690,888 (GRCm39) intron probably benign
R3901:Brat1 UTSW 5 140,703,751 (GRCm39) missense possibly damaging 0.77
R3902:Brat1 UTSW 5 140,703,751 (GRCm39) missense possibly damaging 0.77
R4467:Brat1 UTSW 5 140,690,826 (GRCm39) utr 5 prime probably benign
R4751:Brat1 UTSW 5 140,704,051 (GRCm39) missense probably damaging 1.00
R5795:Brat1 UTSW 5 140,698,827 (GRCm39) missense probably benign 0.01
R6151:Brat1 UTSW 5 140,691,716 (GRCm39) missense probably benign 0.00
R7162:Brat1 UTSW 5 140,696,004 (GRCm39) missense probably benign 0.00
R8247:Brat1 UTSW 5 140,698,893 (GRCm39) missense possibly damaging 0.88
R8901:Brat1 UTSW 5 140,698,608 (GRCm39) missense probably benign 0.17
R8934:Brat1 UTSW 5 140,696,004 (GRCm39) missense probably benign 0.00
R9742:Brat1 UTSW 5 140,703,912 (GRCm39) missense probably benign 0.00
R9797:Brat1 UTSW 5 140,704,273 (GRCm39) missense probably damaging 1.00
X0026:Brat1 UTSW 5 140,700,693 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16