Incidental Mutation 'IGL02437:Brat1'
ID293309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brat1
Ensembl Gene ENSMUSG00000000148
Gene NameBRCA1-associated ATM activator 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.173) question?
Stock #IGL02437
Quality Score
Status
Chromosome5
Chromosomal Location140705011-140719379 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 140712808 bp
ZygosityHeterozygous
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]
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: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abca16 T G 7: 120,533,729 C1294G probably benign Het
Abca7 T A 10: 80,008,389 S1410T probably damaging Het
Abhd12 T C 2: 150,834,369 D356G probably benign Het
BC004004 T C 17: 29,298,697 L295P probably damaging Het
Bpifc T C 10: 85,988,731 S215G probably damaging Het
Bptf C T 11: 107,074,695 M1109I probably benign Het
Cask G A X: 13,537,621 T16I probably damaging Het
Clic6 A T 16: 92,530,929 I541F probably damaging Het
Clnk C T 5: 38,774,566 probably null Het
Cntnap1 T A 11: 101,186,851 I1113N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26a1 T C 19: 37,698,495 S132P probably benign Het
Cyp4f13 G T 17: 32,930,608 H85N probably benign Het
Dcaf15 C T 8: 84,101,816 G215D probably damaging Het
Dip2a T C 10: 76,298,267 T500A probably benign Het
Fam92b T C 8: 120,174,786 E60G probably damaging Het
Gbe1 T A 16: 70,434,658 probably benign Het
Gli2 T A 1: 118,836,003 I1473F probably damaging Het
Gm5129 A T 5: 29,735,863 probably benign Het
Hdgf C T 3: 87,914,485 R168C probably damaging Het
Heph A G X: 96,473,027 T342A probably benign Het
Kdelr3 T C 15: 79,525,787 Y158H probably damaging Het
Lamb3 C T 1: 193,327,945 R289C probably damaging Het
Leng8 C T 7: 4,142,093 A164V probably damaging Het
Ltn1 T C 16: 87,398,001 T1337A probably benign Het
Mast3 C A 8: 70,780,558 R316L possibly damaging Het
Nampt A G 12: 32,830,216 Y36C probably damaging Het
Ncapd3 T A 9: 27,063,968 probably benign Het
Nipbl T C 15: 8,359,074 D354G probably damaging Het
Nsd1 A T 13: 55,313,441 R2494W probably damaging Het
Nt5c1a A G 4: 123,214,241 N239S probably benign Het
Ogfr A G 2: 180,589,536 E19G possibly damaging Het
Olfr48 A G 2: 89,844,784 L63P probably damaging Het
Olfr747 A T 14: 50,681,200 S145T probably benign Het
Pcna A T 2: 132,251,235 probably benign Het
Pdia3 T A 2: 121,433,648 V326E probably damaging Het
Phf8 T A X: 151,631,360 L1002Q possibly damaging Het
Rhobtb2 T C 14: 69,795,916 E535G probably damaging Het
Rusc2 G T 4: 43,415,545 D284Y probably damaging Het
Samd8 A G 14: 21,775,423 Y212C probably benign Het
Sash3 C A X: 48,158,795 Q169K probably benign Het
Scyl1 C T 19: 5,766,196 G324S probably damaging Het
Sec62 G A 3: 30,818,847 G360R unknown Het
Sis T C 3: 72,919,614 probably null Het
Slc6a1 T A 6: 114,308,617 I338N probably damaging Het
Snrnp200 A G 2: 127,216,110 D264G probably damaging Het
Tgm3 G T 2: 130,030,041 probably null Het
Tmem2 T C 19: 21,811,978 probably null Het
Tnrc6b T G 15: 80,880,457 L720R probably damaging Het
Tspyl4 A T 10: 34,298,232 Q240L probably damaging Het
Tube1 G A 10: 39,140,850 V80I probably damaging Het
Uap1l1 C T 2: 25,363,933 V304M probably damaging Het
Wtap T C 17: 12,967,733 N309S probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfyve26 T C 12: 79,268,847 D1285G probably benign Het
Zscan20 G A 4: 128,588,417 T484I probably damaging Het
Other mutations in Brat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Brat1 APN 5 140717177 missense probably damaging 1.00
IGL01327:Brat1 APN 5 140718208 nonsense probably null
IGL01897:Brat1 APN 5 140717915 missense probably benign 0.00
IGL01965:Brat1 APN 5 140718056 missense probably benign 0.01
IGL03350:Brat1 APN 5 140705995 missense probably damaging 1.00
R0394:Brat1 UTSW 5 140718386 missense probably damaging 1.00
R1256:Brat1 UTSW 5 140710207 missense possibly damaging 0.87
R1426:Brat1 UTSW 5 140718013 missense probably benign 0.00
R1474:Brat1 UTSW 5 140712627 missense probably benign
R1848:Brat1 UTSW 5 140718509 missense possibly damaging 0.94
R2205:Brat1 UTSW 5 140705133 intron probably benign
R3901:Brat1 UTSW 5 140717996 missense possibly damaging 0.77
R3902:Brat1 UTSW 5 140717996 missense possibly damaging 0.77
R4467:Brat1 UTSW 5 140705071 utr 5 prime probably benign
R4751:Brat1 UTSW 5 140718296 missense probably damaging 1.00
R5795:Brat1 UTSW 5 140713072 missense probably benign 0.01
R6151:Brat1 UTSW 5 140705961 missense probably benign 0.00
R7162:Brat1 UTSW 5 140710249 missense probably benign 0.00
X0026:Brat1 UTSW 5 140714938 missense probably benign 0.00
Posted On2015-04-16