Incidental Mutation 'IGL02649:Brd3'
| ID |
302071 |
| 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 # |
IGL02649
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
27335588-27397669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27344362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 456
(E456V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028282]
[ENSMUST00000077737]
[ENSMUST00000113941]
[ENSMUST00000138693]
[ENSMUST00000154316]
[ENSMUST00000164296]
|
| AlphaFold |
Q8K2F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028282
AA Change: E456V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028282
Gene: ENSMUSG00000026918
AA Change: E456V
| 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 |
probably damaging
Transcript: ENSMUST00000077737
AA Change: E456V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000076918
Gene: ENSMUSG00000026918
AA Change: E456V
| 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 |
probably damaging
Transcript: ENSMUST00000113941
AA Change: E456V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109574
Gene: ENSMUSG00000026918
AA Change: E456V
| 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: ENSMUST00000130932
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138693
AA Change: E456V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115755
Gene: ENSMUSG00000026918
AA Change: E456V
| 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 |
probably damaging
Transcript: ENSMUST00000154316
AA Change: E456V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114422
Gene: ENSMUSG00000026918
AA Change: E456V
| 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 |
probably damaging
Transcript: ENSMUST00000164296
AA Change: E456V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128812
Gene: ENSMUSG00000026918
AA Change: E456V
| 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 |
noncoding transcript
Transcript: ENSMUST00000183455
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
A |
T |
11: 116,486,472 (GRCm39) |
I4F |
probably benign |
Het |
| Adamts17 |
T |
G |
7: 66,499,626 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
A |
T |
11: 7,117,156 (GRCm39) |
M1008L |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Atrnl1 |
T |
G |
19: 57,638,873 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
A |
T |
10: 75,573,252 (GRCm39) |
L712H |
probably damaging |
Het |
| Ccna1 |
T |
A |
3: 54,961,807 (GRCm39) |
T38S |
probably damaging |
Het |
| Chadl |
T |
A |
15: 81,580,059 (GRCm39) |
I59F |
probably benign |
Het |
| Chmp3 |
T |
C |
6: 71,529,417 (GRCm39) |
M27T |
possibly damaging |
Het |
| Clcn1 |
C |
T |
6: 42,275,763 (GRCm39) |
T295I |
probably damaging |
Het |
| Col6a6 |
A |
G |
9: 105,604,369 (GRCm39) |
|
probably null |
Het |
| Dennd2a |
T |
A |
6: 39,447,290 (GRCm39) |
H776L |
probably benign |
Het |
| Dimt1 |
G |
A |
13: 107,085,219 (GRCm39) |
R55K |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,196,319 (GRCm39) |
D1626V |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,487,465 (GRCm39) |
S3487P |
possibly damaging |
Het |
| Hivep1 |
T |
C |
13: 42,310,787 (GRCm39) |
V1009A |
possibly damaging |
Het |
| Ifna12 |
A |
T |
4: 88,521,091 (GRCm39) |
V152E |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,930,974 (GRCm39) |
C903S |
possibly damaging |
Het |
| Ipo9 |
T |
C |
1: 135,313,672 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Isyna1 |
T |
C |
8: 71,048,904 (GRCm39) |
S328P |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,472,303 (GRCm39) |
|
probably benign |
Het |
| Lamc1 |
G |
A |
1: 153,122,788 (GRCm39) |
T764I |
possibly damaging |
Het |
| Lta4h |
T |
C |
10: 93,308,831 (GRCm39) |
V377A |
probably benign |
Het |
| Lyz2 |
C |
T |
10: 117,118,090 (GRCm39) |
V20I |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,328,418 (GRCm39) |
L329F |
probably benign |
Het |
| Nlgn2 |
T |
C |
11: 69,716,628 (GRCm39) |
T638A |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,035,753 (GRCm39) |
T10A |
probably damaging |
Het |
| Or14j8 |
A |
T |
17: 38,263,864 (GRCm39) |
F17Y |
probably damaging |
Het |
| Or5k1 |
T |
A |
16: 58,617,713 (GRCm39) |
R165S |
probably damaging |
Het |
| Pde10a |
A |
T |
17: 9,172,604 (GRCm39) |
N296I |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,519,912 (GRCm39) |
I1385M |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,141,378 (GRCm39) |
V647A |
probably damaging |
Het |
| Pnp |
T |
C |
14: 51,185,303 (GRCm39) |
|
probably benign |
Het |
| Ppl |
A |
T |
16: 4,905,327 (GRCm39) |
I1656K |
probably damaging |
Het |
| Rimbp3 |
G |
T |
16: 17,027,472 (GRCm39) |
E299* |
probably null |
Het |
| Sbsn |
C |
A |
7: 30,452,683 (GRCm39) |
A566D |
probably damaging |
Het |
| Sh3rf1 |
T |
A |
8: 61,816,225 (GRCm39) |
M494K |
probably damaging |
Het |
| Slc2a2 |
T |
A |
3: 28,772,885 (GRCm39) |
V226E |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,617,986 (GRCm39) |
I339N |
possibly damaging |
Het |
| Tenm2 |
G |
T |
11: 36,097,912 (GRCm39) |
S445R |
possibly damaging |
Het |
| Tlcd5 |
C |
A |
9: 43,022,783 (GRCm39) |
K190N |
probably benign |
Het |
| Tnip2 |
A |
T |
5: 34,671,075 (GRCm39) |
L56Q |
probably damaging |
Het |
| Trpv1 |
C |
T |
11: 73,141,612 (GRCm39) |
S485F |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,681,437 (GRCm39) |
M115T |
probably benign |
Het |
| Zbtb38 |
G |
A |
9: 96,568,672 (GRCm39) |
T804I |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,520,167 (GRCm39) |
S430P |
possibly damaging |
Het |
|
| Other mutations in Brd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01385:Brd3
|
APN |
2 |
27,354,101 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation