Incidental Mutation 'R4751:Brat1'
ID 357580
Institutional Source Beutler Lab
Gene Symbol Brat1
Ensembl Gene ENSMUSG00000000148
Gene Name BRCA1-associated ATM activator 1
Synonyms Baat1
MMRRC Submission 041970-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.365) question?
Stock # R4751 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 140690766-140705134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 140704051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 768 (L768R)
Ref Sequence ENSEMBL: ENSMUSP00000098074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041588] [ENSMUST00000100505] [ENSMUST00000110806] [ENSMUST00000153440]
AlphaFold Q8C3R1
Predicted Effect probably damaging
Transcript: ENSMUST00000041588
AA Change: L723R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036016
Gene: ENSMUSG00000000148
AA Change: L723R

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 damaging
Transcript: ENSMUST00000100505
AA Change: L768R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098074
Gene: ENSMUSG00000000148
AA Change: L768R

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
Meta Mutation Damage Score 0.7319 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 95% (124/131)
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: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A T 7: 127,836,258 (GRCm39) C112S probably benign Het
Abca13 G A 11: 9,227,973 (GRCm39) probably null Het
Abca14 A G 7: 119,911,400 (GRCm39) E1328G probably benign Het
Abca9 T A 11: 110,021,396 (GRCm39) I1105F probably benign Het
Abr T C 11: 76,347,434 (GRCm39) N396D possibly damaging Het
Aftph A C 11: 20,677,074 (GRCm39) C178W probably damaging Het
Akr1c14 T C 13: 4,115,338 (GRCm39) F89S possibly damaging Het
Ank3 C T 10: 69,822,036 (GRCm39) A1518V probably benign Het
Arfgap2 T G 2: 91,097,713 (GRCm39) S143R probably benign Het
Aspdh T A 7: 44,116,629 (GRCm39) C107* probably null Het
Asphd2 C A 5: 112,539,612 (GRCm39) G74W probably damaging Het
AU040320 G A 4: 126,748,259 (GRCm39) probably null Het
B3glct T A 5: 149,648,867 (GRCm39) probably null Het
Bcl9l A G 9: 44,418,100 (GRCm39) K646R probably damaging Het
Btbd18 T A 2: 84,498,265 (GRCm39) Y634* probably null Het
Bub1 T A 2: 127,665,858 (GRCm39) probably benign Het
Carns1 A T 19: 4,216,417 (GRCm39) D588E probably damaging Het
Cast T C 13: 74,894,166 (GRCm39) K141E probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Chsy3 T C 18: 59,308,872 (GRCm39) S42P possibly damaging Het
Clca3a1 A T 3: 144,710,609 (GRCm39) F865I possibly damaging Het
Clec4f T A 6: 83,622,264 (GRCm39) M526L possibly damaging Het
Clnk T C 5: 38,878,256 (GRCm39) E301G probably benign Het
Colgalt2 T A 1: 152,365,627 (GRCm39) I309N probably benign Het
Cyp2e1 A T 7: 140,354,629 (GRCm39) K326* probably null Het
Dagla T A 19: 10,227,758 (GRCm39) T717S probably benign Het
Dnajc11 G A 4: 152,052,999 (GRCm39) R141H probably benign Het
Dst A G 1: 34,230,965 (GRCm39) K2853E probably benign Het
Eif4g1 A G 16: 20,505,265 (GRCm39) K1208E possibly damaging Het
Elane A G 10: 79,722,625 (GRCm39) R48G probably benign Het
Fbxo30 T A 10: 11,165,939 (GRCm39) N220K probably benign Het
Fbxo33 A T 12: 59,247,714 (GRCm39) probably benign Het
Fetub G A 16: 22,756,645 (GRCm39) V169I probably benign Het
Gpx6 A C 13: 21,501,234 (GRCm39) Q107H probably damaging Het
H2bc18 A T 3: 96,176,467 (GRCm39) probably benign Het
Homer3 A T 8: 70,738,084 (GRCm39) I19F probably damaging Het
Hspa4 C T 11: 53,175,026 (GRCm39) V144I probably benign Het
Icos C T 1: 61,032,876 (GRCm39) S25L probably benign Het
Ifna4 A G 4: 88,760,185 (GRCm39) T30A probably benign Het
Ino80b C T 6: 83,101,731 (GRCm39) G46D probably damaging Het
Kpna2 T G 11: 106,883,490 (GRCm39) I100L possibly damaging Het
Krt71 C T 15: 101,643,901 (GRCm39) G446R probably damaging Het
Krtap31-2 A G 11: 99,827,402 (GRCm39) N78S possibly damaging Het
Lman1 A G 18: 66,131,505 (GRCm39) S132P probably benign Het
Lmna T C 3: 88,393,840 (GRCm39) Q246R possibly damaging Het
Lrp10 T A 14: 54,706,049 (GRCm39) V413E probably damaging Het
Macf1 A C 4: 123,365,443 (GRCm39) I1541S probably benign Het
Med24 A G 11: 98,597,258 (GRCm39) L874P probably damaging Het
Mgll T A 6: 88,702,093 (GRCm39) probably benign Het
Mrpl37 A T 4: 106,914,672 (GRCm39) L364Q probably damaging Het
Mrpl47 C T 3: 32,782,590 (GRCm39) R209H probably benign Het
Muc5ac T C 7: 141,371,338 (GRCm39) F3285L probably benign Het
Mylk A G 16: 34,699,539 (GRCm39) R301G probably benign Het
Nacad A G 11: 6,555,726 (GRCm39) L8P unknown Het
Ncf1 T A 5: 134,258,399 (GRCm39) H8L probably damaging Het
Ncoa3 T A 2: 165,911,823 (GRCm39) M1383K possibly damaging Het
Necab2 C T 8: 120,194,337 (GRCm39) S271L probably benign Het
Nme8 A T 13: 19,859,808 (GRCm39) probably null Het
Nsrp1 T G 11: 76,967,545 (GRCm39) T16P possibly damaging Het
Obox3 A T 7: 15,359,617 (GRCm39) probably null Het
Or1l8 T C 2: 36,817,595 (GRCm39) H177R probably damaging Het
Or4c108 A G 2: 88,803,477 (GRCm39) C253R probably damaging Het
Or4c15 T A 2: 88,760,258 (GRCm39) I134F probably damaging Het
Or4d6 T A 19: 12,086,541 (GRCm39) Y123F probably damaging Het
Or52n2b A T 7: 104,565,617 (GRCm39) Y295* probably null Het
Or6b2 C A 1: 92,407,705 (GRCm39) A213S probably benign Het
Osbpl3 C G 6: 50,277,977 (GRCm39) E790Q possibly damaging Het
Osmr A T 15: 6,872,333 (GRCm39) W254R probably damaging Het
Otoa T C 7: 120,732,147 (GRCm39) probably benign Het
Pagr1a A T 7: 126,614,551 (GRCm39) L218H probably damaging Het
Pcdha11 G A 18: 37,139,997 (GRCm39) G542D probably damaging Het
Pck2 T A 14: 55,780,018 (GRCm39) I54N probably damaging Het
Ppif T C 14: 25,699,923 (GRCm39) V173A probably damaging Het
Ptgs2 T A 1: 149,979,771 (GRCm39) L292H probably damaging Het
Ptpru A G 4: 131,529,897 (GRCm39) S604P probably damaging Het
Qrfpr T C 3: 36,236,771 (GRCm39) H210R possibly damaging Het
Rasgrf1 A G 9: 89,792,171 (GRCm39) T41A probably damaging Het
Rasgrf1 A G 9: 89,894,919 (GRCm39) H1113R probably damaging Het
Rhoc T A 3: 104,699,963 (GRCm39) I80N probably damaging Het
Riok3 A G 18: 12,287,040 (GRCm39) N472S probably benign Het
Rnf213 A G 11: 119,336,571 (GRCm39) Y3314C probably benign Het
Shank2 C T 7: 143,963,205 (GRCm39) T264I probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sipa1l1 A G 12: 82,387,968 (GRCm39) I65V probably benign Het
Slc22a19 T C 19: 7,668,510 (GRCm39) K291R possibly damaging Het
Slc22a20 T C 19: 6,030,488 (GRCm39) I315V probably benign Het
Slc44a1 A T 4: 53,560,973 (GRCm39) D563V probably damaging Het
Smchd1 A T 17: 71,698,463 (GRCm39) H1104Q probably benign Het
Spcs2 A T 7: 99,493,976 (GRCm39) probably null Het
Speer1e T A 5: 11,236,458 (GRCm39) Y138N probably damaging Het
Sptb T C 12: 76,673,884 (GRCm39) E301G probably benign Het
Stum T C 1: 180,270,234 (GRCm39) D86G probably damaging Het
Sufu A T 19: 46,472,088 (GRCm39) D449V probably benign Het
Sun5 T C 2: 153,707,936 (GRCm39) probably null Het
Tbc1d15 T A 10: 115,038,492 (GRCm39) I574F probably damaging Het
Tert G A 13: 73,776,182 (GRCm39) S311N possibly damaging Het
Tiparp T C 3: 65,460,225 (GRCm39) Y507H probably damaging Het
Tnk2 T C 16: 32,498,675 (GRCm39) C158R probably damaging Het
Tpgs1 T C 10: 79,511,454 (GRCm39) S199P possibly damaging Het
Trdmt1 G T 2: 13,549,464 (GRCm39) probably benign Het
Trp53bp1 T A 2: 121,058,290 (GRCm39) D944V probably damaging Het
Tsc1 T A 2: 28,569,093 (GRCm39) I720N probably damaging Het
Ttn T C 2: 76,539,949 (GRCm39) T34346A probably benign Het
Ttn T C 2: 76,727,925 (GRCm39) probably benign Het
Uba7 T A 9: 107,857,004 (GRCm39) C686S possibly damaging Het
Ush2a T A 1: 188,582,284 (GRCm39) F3782L probably damaging Het
Vars2 A T 17: 35,970,235 (GRCm39) H745Q possibly damaging Het
Vgf T A 5: 137,061,255 (GRCm39) D472E probably damaging Het
Vmn2r15 T C 5: 109,434,620 (GRCm39) M695V probably benign Het
Vps41 A T 13: 18,995,792 (GRCm39) D208V probably damaging Het
Vta1 C T 10: 14,531,560 (GRCm39) A272T probably benign Het
Wnk4 G A 11: 101,167,188 (GRCm39) probably benign Het
Zfp507 T C 7: 35,493,807 (GRCm39) K412R probably damaging Het
Zfp768 A G 7: 126,943,934 (GRCm39) F65L possibly damaging Het
Zfp956 T C 6: 47,940,510 (GRCm39) S290P probably benign 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
IGL02437:Brat1 APN 5 140,698,563 (GRCm39) missense possibly damaging 0.91
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
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
Predicted Primers PCR Primer
(F):5'- ACTGTTCTCCAGGCAGTGAG -3'
(R):5'- GACACGCCTTAGTAGCAGTCAG -3'

Sequencing Primer
(F):5'- GTGTTCCTCACCCAGGCAC -3'
(R):5'- GTGGGCTCTTCTCCACATGG -3'
Posted On 2015-11-11