Incidental Mutation 'IGL01965:Brat1'
ID182503
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: 0.217) question?
Stock #IGL01965
Quality Score
Status
Chromosome5
Chromosomal Location140705011-140719379 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 140718056 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 688 (V688A)
Ref Sequence ENSEMBL: ENSMUSP00000098074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041588] [ENSMUST00000100505] [ENSMUST00000110806] [ENSMUST00000153440]
Predicted Effect probably benign
Transcript: ENSMUST00000041588
AA Change: V643A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000036016
Gene: ENSMUSG00000000148
AA Change: V643A

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 probably benign
Transcript: ENSMUST00000100505
AA Change: V688A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000098074
Gene: ENSMUSG00000000148
AA Change: V688A

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 probably benign
Transcript: ENSMUST00000110806
SMART Domains Protein: ENSMUSP00000106429
Gene: ENSMUSG00000000148

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 probably benign
Transcript: ENSMUST00000153440
SMART Domains Protein: ENSMUSP00000114216
Gene: ENSMUSG00000000148

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik T A 10: 51,756,982 noncoding transcript Het
Adm C T 7: 110,628,625 L67F probably benign Het
Bcl10 C T 3: 145,933,184 R194* probably null Het
Cep57 T A 9: 13,821,520 probably benign Het
Dhx57 G A 17: 80,268,850 R604W probably damaging Het
Fndc3a A G 14: 72,540,402 I1121T probably benign Het
Fry A G 5: 150,381,621 E597G probably damaging Het
Gabra2 A G 5: 71,008,075 probably benign Het
Golgb1 A G 16: 36,917,920 D2207G probably damaging Het
Htr4 T A 18: 62,437,669 M265K probably damaging Het
Igf2r C T 17: 12,704,338 V1195M probably benign Het
Itga2 C A 13: 114,848,064 probably benign Het
Itih3 T C 14: 30,915,720 H494R probably damaging Het
Itpkb C A 1: 180,332,405 T32K probably damaging Het
Kif16b A T 2: 142,848,405 D252E probably damaging Het
Klhl33 A G 14: 50,891,730 Y681H probably damaging Het
Lats1 T A 10: 7,701,706 V198E probably benign Het
Me3 A G 7: 89,851,743 D554G probably benign Het
Mindy4 C T 6: 55,260,532 probably benign Het
Nipa2 G A 7: 55,944,623 probably benign Het
Olfr1162 A G 2: 88,050,436 F63L probably benign Het
Olfr1221 G A 2: 89,112,191 T107I probably benign Het
Olfr569 T C 7: 102,887,607 E182G probably damaging Het
Olfr916 A T 9: 38,657,622 F257I probably benign Het
Ptgis A T 2: 167,208,253 W319R probably benign Het
Pygl C T 12: 70,191,114 A717T probably benign Het
Rbbp8 A T 18: 11,722,260 K514I probably benign Het
Scn9a A T 2: 66,484,433 L1636H probably damaging Het
Serpina3j A G 12: 104,314,804 T79A probably benign Het
Sfxn4 A G 19: 60,858,744 probably benign Het
Shc2 T A 10: 79,627,189 probably benign Het
Sim2 A T 16: 94,121,178 Y294F probably benign Het
Tep1 A G 14: 50,863,495 probably benign Het
Ubr1 A G 2: 120,875,398 L1528P probably damaging Het
Usp53 A G 3: 122,961,153 probably null Het
Vmn2r87 G T 10: 130,479,055 L221I possibly 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
IGL02437:Brat1 APN 5 140712808 missense possibly damaging 0.91
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 On2014-05-07