Incidental Mutation 'R1256:Brat1'
| ID |
151448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brat1
|
| Ensembl Gene |
ENSMUSG00000000148 |
| Gene Name |
BRCA1-associated ATM activator 1 |
| Synonyms |
Baat1 |
| MMRRC Submission |
039323-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.304)
|
| Stock # |
R1256 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
140690766-140705134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140695962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 66
(Q66R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041588]
[ENSMUST00000100505]
[ENSMUST00000110806]
[ENSMUST00000153440]
|
| AlphaFold |
Q8C3R1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041588
AA Change: Q66R
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000036016
Gene: ENSMUSG00000000148
AA Change: Q66R
| Domain | Start | End | E-Value | Type |
|---|
|
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: Q111R
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098074
Gene: ENSMUSG00000000148
AA Change: Q111R
| Domain | Start | End | E-Value | Type |
|---|
|
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: Q66R
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106429
Gene: ENSMUSG00000000148
AA Change: Q66R
| Domain | Start | End | E-Value | Type |
|---|
|
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: Q66R
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114216
Gene: ENSMUSG00000000148
AA Change: Q66R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
2 |
172 |
2e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,894,268 (GRCm39) |
Y456H |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,634,442 (GRCm39) |
N791S |
possibly damaging |
Het |
| Capn10 |
C |
T |
1: 92,874,668 (GRCm39) |
T633M |
probably damaging |
Het |
| Ccdc186 |
G |
T |
19: 56,786,053 (GRCm39) |
L661I |
probably benign |
Het |
| Cln3 |
A |
G |
7: 126,182,208 (GRCm39) |
S4P |
probably damaging |
Het |
| Cnot10 |
G |
T |
9: 114,439,749 (GRCm39) |
S520Y |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,129,978 (GRCm39) |
F1715I |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,518,789 (GRCm39) |
C545* |
probably null |
Het |
| Hivep1 |
C |
T |
13: 42,335,307 (GRCm39) |
S2282F |
probably damaging |
Het |
| Jag2 |
T |
C |
12: 112,878,039 (GRCm39) |
E564G |
possibly damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,916,262 (GRCm39) |
H308R |
probably damaging |
Het |
| Magi3 |
C |
T |
3: 103,935,126 (GRCm39) |
V936I |
probably benign |
Het |
| Mcu |
G |
T |
10: 59,290,790 (GRCm39) |
A279E |
probably damaging |
Het |
| Msln |
A |
G |
17: 25,973,157 (GRCm39) |
C13R |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,883,883 (GRCm39) |
D714G |
probably benign |
Het |
| Nif3l1 |
T |
A |
1: 58,494,808 (GRCm39) |
V259D |
probably damaging |
Het |
| Or4c127 |
A |
T |
2: 89,832,911 (GRCm39) |
M54L |
possibly damaging |
Het |
| Or5k14 |
A |
C |
16: 58,693,206 (GRCm39) |
Y102* |
probably null |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Pcdhb9 |
A |
G |
18: 37,536,169 (GRCm39) |
D721G |
possibly damaging |
Het |
| Pepd |
A |
C |
7: 34,620,917 (GRCm39) |
T61P |
possibly damaging |
Het |
| Pkd1l2 |
C |
T |
8: 117,746,282 (GRCm39) |
|
probably null |
Het |
| Poglut3 |
A |
C |
9: 53,299,762 (GRCm39) |
R90S |
possibly damaging |
Het |
| Psip1 |
A |
G |
4: 83,392,604 (GRCm39) |
S102P |
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,809,446 (GRCm39) |
E443G |
possibly damaging |
Het |
| Rnf20 |
A |
G |
4: 49,638,230 (GRCm39) |
D114G |
probably benign |
Het |
| Schip1 |
A |
T |
3: 68,402,375 (GRCm39) |
I151F |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,659,373 (GRCm39) |
I888V |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,802,310 (GRCm39) |
T263A |
probably damaging |
Het |
| Spn |
T |
C |
7: 126,735,445 (GRCm39) |
K354R |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,434,573 (GRCm39) |
A1022T |
probably damaging |
Het |
| Strn |
A |
C |
17: 78,972,046 (GRCm39) |
|
probably null |
Het |
| Tstd3 |
T |
C |
4: 21,759,627 (GRCm39) |
I79M |
probably damaging |
Het |
| Txnl4a |
A |
G |
18: 80,250,487 (GRCm39) |
I28V |
probably benign |
Het |
| Uty |
T |
C |
Y: 1,134,884 (GRCm39) |
D928G |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,313,225 (GRCm39) |
L22P |
probably damaging |
Het |
| Vsx2 |
T |
A |
12: 84,623,085 (GRCm39) |
L163Q |
probably damaging |
Het |
|
| Other mutations in Brat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGCCATTGTTGTACATACCCATCT -3'
(R):5'- ACAGACAAAGCATCAGGAGTGTCCTA -3'
Sequencing Primer
(F):5'- GTTGTACATACCCATCTTTCTTGGAC -3'
(R):5'- GTCCCTGGCAAATGTTTCTAAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation