Incidental Mutation 'IGL03350:Brat1'
ID419681
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? Possibly non essential (E-score: 0.268) question?
Stock #IGL03350
Quality Score
Status
Chromosome5
Chromosomal Location140705011-140719379 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 140705995 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 9 (L9P)
Ref Sequence ENSEMBL: ENSMUSP00000114216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041588] [ENSMUST00000041783] [ENSMUST00000077890] [ENSMUST00000100505] [ENSMUST00000110806] [ENSMUST00000135028] [ENSMUST00000142081] [ENSMUST00000153440]
Predicted Effect probably damaging
Transcript: ENSMUST00000041588
AA Change: L9P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036016
Gene: ENSMUSG00000000148
AA Change: L9P

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: ENSMUST00000041783
SMART Domains Protein: ENSMUSP00000045913
Gene: ENSMUSG00000036555

DomainStartEndE-ValueType
low complexity region 33 53 N/A INTRINSIC
low complexity region 128 139 N/A INTRINSIC
coiled coil region 157 190 N/A INTRINSIC
coiled coil region 212 266 N/A INTRINSIC
coiled coil region 287 323 N/A INTRINSIC
low complexity region 345 362 N/A INTRINSIC
coiled coil region 398 491 N/A INTRINSIC
IQ 552 574 1.36e-3 SMART
low complexity region 579 598 N/A INTRINSIC
IQ 614 636 1.63e-1 SMART
low complexity region 734 753 N/A INTRINSIC
low complexity region 754 766 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077890
SMART Domains Protein: ENSMUSP00000077050
Gene: ENSMUSG00000036555

DomainStartEndE-ValueType
low complexity region 33 53 N/A INTRINSIC
coiled coil region 112 145 N/A INTRINSIC
coiled coil region 167 221 N/A INTRINSIC
coiled coil region 242 278 N/A INTRINSIC
low complexity region 300 317 N/A INTRINSIC
coiled coil region 353 446 N/A INTRINSIC
IQ 507 529 1.36e-3 SMART
low complexity region 534 553 N/A INTRINSIC
IQ 569 591 1.63e-1 SMART
low complexity region 628 647 N/A INTRINSIC
low complexity region 717 736 N/A INTRINSIC
low complexity region 737 749 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100505
AA Change: L54P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098074
Gene: ENSMUSG00000000148
AA Change: L54P

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 damaging
Transcript: ENSMUST00000110806
AA Change: L9P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106429
Gene: ENSMUSG00000000148
AA Change: L9P

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: ENSMUST00000123683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131905
Predicted Effect probably benign
Transcript: ENSMUST00000135028
SMART Domains Protein: ENSMUSP00000143397
Gene: ENSMUSG00000036555

DomainStartEndE-ValueType
low complexity region 33 53 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139382
Predicted Effect probably benign
Transcript: ENSMUST00000142081
SMART Domains Protein: ENSMUSP00000120637
Gene: ENSMUSG00000036555

DomainStartEndE-ValueType
low complexity region 33 53 N/A INTRINSIC
low complexity region 128 139 N/A INTRINSIC
coiled coil region 157 185 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149674
Predicted Effect probably damaging
Transcript: ENSMUST00000153440
AA Change: L9P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114216
Gene: ENSMUSG00000000148
AA Change: L9P

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik C A 6: 129,331,023 V28L probably benign Het
Adam26a A T 8: 43,569,552 Y300* probably null Het
Adgre1 T A 17: 57,401,908 V33E probably benign Het
AI987944 A G 7: 41,393,237 probably benign Het
Atp4a T C 7: 30,720,867 L813P probably damaging Het
Blmh A G 11: 76,971,948 N396D probably damaging Het
Ccdc171 T C 4: 83,681,378 I810T possibly damaging Het
Cyp2a22 T C 7: 26,934,854 T292A possibly damaging Het
Ecm2 C T 13: 49,520,944 T280I probably benign Het
Fa2h C T 8: 111,349,296 V232I probably benign Het
Fbxw24 T C 9: 109,607,013 D317G probably damaging Het
Flt4 C A 11: 49,634,793 S722* probably null Het
Fryl T C 5: 73,133,306 Q85R probably damaging Het
Gm3239 A G 14: 4,667,115 R188G possibly damaging Het
Hspa13 A T 16: 75,757,829 S456R probably damaging Het
Htr1b T C 9: 81,632,122 Y144C probably damaging Het
Hydin A G 8: 110,312,224 H198R possibly damaging Het
Krt78 A T 15: 101,946,517 M953K probably benign Het
Lgr5 G T 10: 115,471,988 T255K probably damaging Het
Lrp2 T A 2: 69,438,453 D4162V probably damaging Het
Map3k2 A G 18: 32,212,148 D342G probably damaging Het
Miip A G 4: 147,862,522 V258A probably benign Het
Muc6 T C 7: 141,652,059 H52R probably damaging Het
Nfs1 T C 2: 156,127,740 E329G probably benign Het
Npsr1 T C 9: 24,098,309 V37A probably benign Het
Olfr1107 A C 2: 87,071,560 D191E probably damaging Het
Olfr23 A T 11: 73,940,838 L197F probably damaging Het
Olfr356 T C 2: 36,937,583 Y155H probably damaging Het
Pex16 T A 2: 92,377,497 M98K probably damaging Het
Pla2r1 C T 2: 60,455,173 C699Y probably damaging Het
Plcd4 A T 1: 74,549,301 D103V probably damaging Het
Pnpla1 A G 17: 28,876,992 D129G probably damaging Het
Rad23a T C 8: 84,837,479 E265G possibly damaging Het
Rbm11 C T 16: 75,600,808 P209S probably benign Het
Ribc2 T A 15: 85,135,502 W162R probably damaging Het
Rnf4 A G 5: 34,346,860 E32G possibly damaging Het
Rpe65 A T 3: 159,614,517 S269C possibly damaging Het
Slc7a14 T A 3: 31,237,409 Y240F probably benign Het
Sorbs2 C T 8: 45,805,807 P1047L probably damaging Het
Ttn T C 2: 76,749,822 I23576V probably damaging Het
Usp24 T G 4: 106,371,079 Y780* probably null Het
Wee2 T C 6: 40,449,731 S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 T126A probably benign Het
Zpld1 A G 16: 55,241,329 probably benign Het
Zufsp G A 10: 33,928,111 R456C probably benign 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
IGL02437:Brat1 APN 5 140712808 missense possibly damaging 0.91
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
R8247:Brat1 UTSW 5 140713138 missense possibly damaging 0.88
X0026:Brat1 UTSW 5 140714938 missense probably benign 0.00
Posted On2016-08-02