Incidental Mutation 'R5261:Brd3'
| ID |
401416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brd3
|
| Ensembl Gene |
ENSMUSG00000026918 |
| Gene Name |
bromodomain containing 3 |
| Synonyms |
RINGL3, Fsrg2, ORFX, 2410084F24Rik |
| MMRRC Submission |
042830-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.478)
|
| Stock # |
R5261 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
27335588-27397669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 27353931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 60
(Q60H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028282]
[ENSMUST00000077737]
[ENSMUST00000113941]
[ENSMUST00000138693]
[ENSMUST00000147736]
[ENSMUST00000154316]
[ENSMUST00000164296]
|
| AlphaFold |
Q8K2F0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028282
AA Change: Q60H
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028282
Gene: ENSMUSG00000026918
AA Change: Q60H
| 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: Q60H
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000076918
Gene: ENSMUSG00000026918
AA Change: Q60H
| 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: Q60H
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109574
Gene: ENSMUSG00000026918
AA Change: Q60H
| 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 damaging
Transcript: ENSMUST00000138693
AA Change: Q60H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115755
Gene: ENSMUSG00000026918
AA Change: Q60H
| 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 |
probably benign
Transcript: ENSMUST00000147736
AA Change: Q60H
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000122009
Gene: ENSMUSG00000026918
AA Change: Q60H
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
31 |
90 |
3.19e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154316
AA Change: Q60H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114422
Gene: ENSMUSG00000026918
AA Change: Q60H
| 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 |
possibly damaging
Transcript: ENSMUST00000164296
AA Change: Q60H
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128812
Gene: ENSMUSG00000026918
AA Change: Q60H
| 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 |
|
| Meta Mutation Damage Score |
0.2430 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
96% (64/67) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
C |
G |
2: 152,282,777 (GRCm39) |
P211A |
probably damaging |
Het |
| Ambra1 |
G |
A |
2: 91,715,951 (GRCm39) |
V761M |
probably damaging |
Het |
| Amfr |
T |
A |
8: 94,702,798 (GRCm39) |
|
probably null |
Het |
| Asphd1 |
C |
A |
7: 126,545,287 (GRCm39) |
A357S |
probably benign |
Het |
| Cd96 |
T |
A |
16: 45,890,016 (GRCm39) |
M336L |
probably benign |
Het |
| Cep152 |
T |
A |
2: 125,406,125 (GRCm39) |
H1469L |
probably benign |
Het |
| Coro1a |
G |
T |
7: 126,299,816 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,171,555 (GRCm39) |
L871Q |
probably benign |
Het |
| Depdc5 |
C |
T |
5: 33,095,635 (GRCm39) |
P824L |
probably damaging |
Het |
| Enpep |
T |
G |
3: 129,099,075 (GRCm39) |
D467A |
probably damaging |
Het |
| Extl2 |
G |
A |
3: 115,821,013 (GRCm39) |
A273T |
probably benign |
Het |
| Foxi3 |
T |
A |
6: 70,937,500 (GRCm39) |
F218Y |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,194,166 (GRCm39) |
M521V |
probably benign |
Het |
| Gpr142 |
T |
A |
11: 114,695,168 (GRCm39) |
N44K |
probably damaging |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,061 (GRCm39) |
I440V |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,642,028 (GRCm39) |
K698I |
probably damaging |
Het |
| Hspa1b |
T |
C |
17: 35,177,983 (GRCm39) |
M1V |
probably null |
Het |
| Ints9 |
T |
A |
14: 65,245,521 (GRCm39) |
Y260N |
probably benign |
Het |
| Khdc3 |
T |
G |
9: 73,010,768 (GRCm39) |
V182G |
possibly damaging |
Het |
| Ky |
A |
G |
9: 102,414,798 (GRCm39) |
|
probably null |
Het |
| Map2k1 |
T |
A |
9: 64,098,843 (GRCm39) |
I263F |
probably damaging |
Het |
| Or13a18 |
A |
C |
7: 140,190,576 (GRCm39) |
I166L |
probably benign |
Het |
| Or2t47 |
T |
C |
11: 58,442,877 (GRCm39) |
S63G |
probably benign |
Het |
| Or5ak25 |
A |
G |
2: 85,269,241 (GRCm39) |
V87A |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,613,453 (GRCm39) |
H2004L |
probably benign |
Het |
| Palmd |
T |
C |
3: 116,717,009 (GRCm39) |
H496R |
probably benign |
Het |
| Papolb |
C |
G |
5: 142,515,409 (GRCm39) |
R78P |
possibly damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,336,247 (GRCm39) |
G854R |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,101,976 (GRCm39) |
I1054V |
probably benign |
Het |
| Pik3ap1 |
A |
T |
19: 41,364,545 (GRCm39) |
L58Q |
probably damaging |
Het |
| Ppp2ca |
A |
G |
11: 51,989,937 (GRCm39) |
K21R |
probably benign |
Het |
| Prmt5 |
A |
C |
14: 54,745,373 (GRCm39) |
I598S |
probably damaging |
Het |
| Pycr1 |
T |
A |
11: 120,532,050 (GRCm39) |
I239F |
probably damaging |
Het |
| R3hdm2 |
C |
T |
10: 127,334,285 (GRCm39) |
R896C |
probably damaging |
Het |
| Rev3l |
C |
T |
10: 39,722,725 (GRCm39) |
P699S |
probably damaging |
Het |
| Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
| Sel1l |
A |
T |
12: 91,791,658 (GRCm39) |
M351K |
possibly damaging |
Het |
| Sesn2 |
A |
G |
4: 132,226,617 (GRCm39) |
L159P |
probably damaging |
Het |
| Slc35f4 |
T |
A |
14: 49,540,946 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
C |
A |
17: 85,359,403 (GRCm39) |
N409K |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,492,502 (GRCm39) |
F246S |
probably damaging |
Het |
| Socs2 |
T |
G |
10: 95,228,681 (GRCm39) |
I190L |
unknown |
Het |
| Srsf1 |
T |
A |
11: 87,938,684 (GRCm39) |
I7N |
possibly damaging |
Het |
| Stox1 |
T |
A |
10: 62,503,620 (GRCm39) |
H145L |
probably damaging |
Het |
| Trap1 |
A |
T |
16: 3,874,286 (GRCm39) |
I243N |
probably damaging |
Het |
| Trav7-3 |
T |
C |
14: 53,681,207 (GRCm39) |
I83T |
probably benign |
Het |
| Trmt9b |
T |
C |
8: 36,979,078 (GRCm39) |
I227T |
probably benign |
Het |
| Tuft1 |
A |
T |
3: 94,546,712 (GRCm39) |
I42K |
possibly damaging |
Het |
| Umps |
A |
G |
16: 33,787,344 (GRCm39) |
V3A |
probably benign |
Het |
| Vim |
A |
C |
2: 13,579,643 (GRCm39) |
E134A |
probably null |
Het |
| Vmn1r28 |
C |
A |
6: 58,242,524 (GRCm39) |
H122Q |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Vsig10l |
T |
A |
7: 43,120,274 (GRCm39) |
V760D |
probably damaging |
Het |
| Xrn1 |
A |
G |
9: 95,927,596 (GRCm39) |
D1460G |
probably benign |
Het |
| Zfp282 |
A |
G |
6: 47,874,824 (GRCm39) |
D343G |
probably damaging |
Het |
| Zfp35 |
A |
G |
18: 24,136,778 (GRCm39) |
H374R |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTGGTCTGAGGAGAGTCTC -3'
(R):5'- ACTAAGCTGCCAGAGGATGTCC -3'
Sequencing Primer
(F):5'- TGAGACCCGCTGCTCTAG -3'
(R):5'- TGCCAGAGGATGTCCACTACAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation