Incidental Mutation 'IGL01385:Brd3'
| ID |
79019 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Brd3
|
| Ensembl Gene |
ENSMUSG00000026918 |
| Gene Name |
bromodomain containing 3 |
| Synonyms |
RINGL3, Fsrg2, ORFX, 2410084F24Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
IGL01385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
27335588-27397669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27354101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 4
(T4A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028282]
[ENSMUST00000077737]
[ENSMUST00000113941]
[ENSMUST00000138693]
[ENSMUST00000147736]
[ENSMUST00000164296]
[ENSMUST00000154316]
|
| AlphaFold |
Q8K2F0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028282
AA Change: T4A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028282
Gene: ENSMUSG00000026918
AA Change: T4A
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
31 |
141 |
4.16e-46 |
SMART |
|
low complexity region
|
148 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
269 |
N/A |
INTRINSIC |
|
BROMO
|
307 |
416 |
7.64e-45 |
SMART |
|
coiled coil region
|
455 |
525 |
N/A |
INTRINSIC |
|
PDB:2JNS|A
|
572 |
645 |
5e-37 |
PDB |
|
coiled coil region
|
649 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077737
AA Change: T4A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000076918
Gene: ENSMUSG00000026918
AA Change: T4A
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
31 |
141 |
4.16e-46 |
SMART |
|
low complexity region
|
148 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
269 |
N/A |
INTRINSIC |
|
BROMO
|
307 |
416 |
7.64e-45 |
SMART |
|
coiled coil region
|
455 |
525 |
N/A |
INTRINSIC |
|
PDB:2JNS|A
|
572 |
645 |
5e-37 |
PDB |
|
coiled coil region
|
649 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113941
AA Change: T4A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109574
Gene: ENSMUSG00000026918
AA Change: T4A
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
31 |
141 |
4.16e-46 |
SMART |
|
low complexity region
|
148 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
269 |
N/A |
INTRINSIC |
|
BROMO
|
307 |
416 |
7.64e-45 |
SMART |
|
low complexity region
|
435 |
459 |
N/A |
INTRINSIC |
|
coiled coil region
|
505 |
542 |
N/A |
INTRINSIC |
|
Pfam:BET
|
589 |
653 |
1.2e-35 |
PFAM |
|
coiled coil region
|
666 |
701 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
743 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138693
AA Change: T4A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115755
Gene: ENSMUSG00000026918
AA Change: T4A
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
31 |
141 |
4.16e-46 |
SMART |
|
low complexity region
|
148 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
269 |
N/A |
INTRINSIC |
|
BROMO
|
307 |
416 |
7.64e-45 |
SMART |
|
low complexity region
|
435 |
459 |
N/A |
INTRINSIC |
|
coiled coil region
|
505 |
542 |
N/A |
INTRINSIC |
|
PDB:2JNS|A
|
589 |
662 |
4e-37 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144758
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147736
AA Change: T4A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000122009
Gene: ENSMUSG00000026918
AA Change: T4A
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
31 |
90 |
3.19e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164296
AA Change: T4A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128812
Gene: ENSMUSG00000026918
AA Change: T4A
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
31 |
141 |
4.16e-46 |
SMART |
|
low complexity region
|
148 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
269 |
N/A |
INTRINSIC |
|
BROMO
|
307 |
416 |
7.64e-45 |
SMART |
|
coiled coil region
|
455 |
525 |
N/A |
INTRINSIC |
|
Pfam:BET
|
572 |
636 |
1.5e-35 |
PFAM |
|
coiled coil region
|
649 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
726 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154316
AA Change: T4A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114422
Gene: ENSMUSG00000026918
AA Change: T4A
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
31 |
141 |
4.16e-46 |
SMART |
|
low complexity region
|
148 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
269 |
N/A |
INTRINSIC |
|
BROMO
|
307 |
416 |
7.64e-45 |
SMART |
|
low complexity region
|
435 |
459 |
N/A |
INTRINSIC |
|
coiled coil region
|
505 |
542 |
N/A |
INTRINSIC |
|
PDB:2JNS|A
|
589 |
662 |
4e-37 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,057,346 (GRCm39) |
S292R |
probably damaging |
Het |
| Adamts19 |
A |
G |
18: 59,105,851 (GRCm39) |
T749A |
probably damaging |
Het |
| Agap2 |
A |
T |
10: 126,923,865 (GRCm39) |
I747F |
unknown |
Het |
| Arhgap35 |
T |
A |
7: 16,298,399 (GRCm39) |
N222I |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,125,256 (GRCm39) |
E1074G |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,660,865 (GRCm39) |
S415P |
probably damaging |
Het |
| Dennd2a |
A |
G |
6: 39,500,070 (GRCm39) |
V165A |
probably damaging |
Het |
| Dnm1l |
T |
A |
16: 16,159,317 (GRCm39) |
E95V |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,817,995 (GRCm39) |
Y1609H |
possibly damaging |
Het |
| Esm1 |
A |
C |
13: 113,353,216 (GRCm39) |
E166A |
possibly damaging |
Het |
| F2rl2 |
A |
C |
13: 95,837,836 (GRCm39) |
I294L |
probably benign |
Het |
| Gstt3 |
A |
G |
10: 75,610,822 (GRCm39) |
S187P |
probably benign |
Het |
| Katna1 |
T |
C |
10: 7,628,574 (GRCm39) |
C268R |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,140,233 (GRCm39) |
C66S |
possibly damaging |
Het |
| Naa35 |
G |
A |
13: 59,748,880 (GRCm39) |
E167K |
probably damaging |
Het |
| Or10ak16 |
T |
C |
4: 118,750,748 (GRCm39) |
L156S |
probably benign |
Het |
| Osbpl2 |
A |
G |
2: 179,778,873 (GRCm39) |
N2S |
probably benign |
Het |
| Parp6 |
T |
C |
9: 59,537,895 (GRCm39) |
|
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,267 (GRCm39) |
V549E |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,620,520 (GRCm39) |
L780P |
probably damaging |
Het |
| Plcb3 |
A |
T |
19: 6,935,276 (GRCm39) |
D851E |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,749,560 (GRCm39) |
S1149G |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,869,178 (GRCm39) |
V469A |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,756,410 (GRCm39) |
V3468D |
probably damaging |
Het |
| Spmip3 |
G |
A |
1: 177,568,640 (GRCm39) |
G46R |
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,431,074 (GRCm39) |
V412A |
possibly damaging |
Het |
| Vmn1r238 |
G |
T |
18: 3,122,770 (GRCm39) |
Q215K |
possibly damaging |
Het |
| Wdr11 |
A |
G |
7: 129,209,637 (GRCm39) |
M482V |
probably benign |
Het |
| Wdr72 |
T |
C |
9: 74,086,788 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,340,021 (GRCm39) |
L754P |
probably damaging |
Het |
| Zmym6 |
G |
A |
4: 127,017,899 (GRCm39) |
G1135S |
probably benign |
Het |
|
| Other mutations in Brd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01685:Brd3
|
APN |
2 |
27,349,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01911:Brd3
|
APN |
2 |
27,349,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02105:Brd3
|
APN |
2 |
27,349,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02649:Brd3
|
APN |
2 |
27,344,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02715:Brd3
|
APN |
2 |
27,344,495 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02825:Brd3
|
APN |
2 |
27,339,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02898:Brd3
|
APN |
2 |
27,349,753 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
H8562:Brd3
|
UTSW |
2 |
27,340,545 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1263:Brd3
|
UTSW |
2 |
27,352,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1449:Brd3
|
UTSW |
2 |
27,347,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1449:Brd3
|
UTSW |
2 |
27,340,263 (GRCm39) |
splice site |
probably null |
|
|
R4351:Brd3
|
UTSW |
2 |
27,347,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Brd3
|
UTSW |
2 |
27,339,251 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5049:Brd3
|
UTSW |
2 |
27,340,589 (GRCm39) |
intron |
probably benign |
|
|
R5131:Brd3
|
UTSW |
2 |
27,343,427 (GRCm39) |
missense |
probably benign |
|
|
R5185:Brd3
|
UTSW |
2 |
27,352,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5213:Brd3
|
UTSW |
2 |
27,353,960 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5261:Brd3
|
UTSW |
2 |
27,353,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5326:Brd3
|
UTSW |
2 |
27,340,556 (GRCm39) |
missense |
probably benign |
|
|
R5661:Brd3
|
UTSW |
2 |
27,351,584 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6439:Brd3
|
UTSW |
2 |
27,353,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6952:Brd3
|
UTSW |
2 |
27,344,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7039:Brd3
|
UTSW |
2 |
27,346,929 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7103:Brd3
|
UTSW |
2 |
27,340,406 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7168:Brd3
|
UTSW |
2 |
27,344,411 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7730:Brd3
|
UTSW |
2 |
27,346,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:Brd3
|
UTSW |
2 |
27,342,945 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8272:Brd3
|
UTSW |
2 |
27,351,725 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8695:Brd3
|
UTSW |
2 |
27,352,558 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8959:Brd3
|
UTSW |
2 |
27,354,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9515:Brd3
|
UTSW |
2 |
27,349,815 (GRCm39) |
missense |
|
|
|
R9594:Brd3
|
UTSW |
2 |
27,340,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-11-05 |
Incidental Mutation