Incidental Mutation 'IGL01107:Brat1'
| ID |
51116 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Brat1
|
| Ensembl Gene |
ENSMUSG00000000148 |
| Gene Name |
BRCA1-associated ATM activator 1 |
| Synonyms |
Baat1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.365)
|
| Stock # |
IGL01107
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
140690766-140705134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140702932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 544
(S544L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041588]
[ENSMUST00000100505]
[ENSMUST00000110806]
[ENSMUST00000153440]
|
| AlphaFold |
Q8C3R1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041588
AA Change: S544L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036016
Gene: ENSMUSG00000000148
AA Change: S544L
| 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 |
probably damaging
Transcript: ENSMUST00000100505
AA Change: S589L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098074
Gene: ENSMUSG00000000148
AA Change: S589L
| 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 |
probably damaging
Transcript: ENSMUST00000110806
AA Change: S544L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106429
Gene: ENSMUSG00000000148
AA Change: S544L
| 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 |
probably benign
Transcript: ENSMUST00000153440
|
| SMART Domains |
Protein: ENSMUSP00000114216
Gene: ENSMUSG00000000148
| Domain | Start | End | E-Value | Type |
|---|
|
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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,687,948 (GRCm39) |
F215Y |
probably damaging |
Het |
| 2700049A03Rik |
T |
C |
12: 71,241,242 (GRCm39) |
|
probably null |
Het |
| Akip1 |
C |
T |
7: 109,311,045 (GRCm39) |
T195M |
probably damaging |
Het |
| Arhgef16 |
T |
C |
4: 154,364,701 (GRCm39) |
N631S |
probably benign |
Het |
| Cfap65 |
C |
T |
1: 74,958,342 (GRCm39) |
|
probably null |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Dnajc4 |
C |
T |
19: 6,966,869 (GRCm39) |
R153H |
probably benign |
Het |
| Dusp11 |
A |
G |
6: 85,929,352 (GRCm39) |
|
probably benign |
Het |
| E2f4 |
T |
A |
8: 106,030,809 (GRCm39) |
|
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,665,969 (GRCm39) |
L271Q |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,742,752 (GRCm39) |
D343G |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,945 (GRCm39) |
E412G |
probably damaging |
Het |
| Il4ra |
G |
T |
7: 125,175,086 (GRCm39) |
L431F |
possibly damaging |
Het |
| Ilrun |
A |
T |
17: 28,005,043 (GRCm39) |
|
probably null |
Het |
| Krt86 |
T |
A |
15: 101,373,306 (GRCm39) |
L200Q |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,642,947 (GRCm39) |
F126I |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,567,085 (GRCm39) |
T79A |
probably benign |
Het |
| Pramel13 |
A |
T |
4: 144,119,664 (GRCm39) |
I301N |
probably benign |
Het |
| Psg29 |
G |
T |
7: 16,938,850 (GRCm39) |
L41F |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,599,797 (GRCm39) |
|
probably benign |
Het |
| Reg3a |
A |
G |
6: 78,360,228 (GRCm39) |
D136G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 52,001,315 (GRCm39) |
T1590A |
probably benign |
Het |
| Rorb |
A |
T |
19: 18,934,692 (GRCm39) |
L300* |
probably null |
Het |
| Sin3b |
T |
C |
8: 73,457,733 (GRCm39) |
C150R |
possibly damaging |
Het |
| Smarcc1 |
C |
A |
9: 110,051,005 (GRCm39) |
H942N |
probably damaging |
Het |
| Tas2r105 |
A |
G |
6: 131,664,074 (GRCm39) |
V118A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,868,662 (GRCm39) |
S388G |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,844,809 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,859,325 (GRCm39) |
L498P |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,741,618 (GRCm39) |
Y110C |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,826,370 (GRCm39) |
Y800H |
probably damaging |
Het |
| Zdhhc20 |
T |
A |
14: 58,103,046 (GRCm39) |
E101V |
probably damaging |
Het |
|
| Other mutations in Brat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation