Incidental Mutation 'R7730:Brd3'
| ID |
595750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brd3
|
| Ensembl Gene |
ENSMUSG00000026918 |
| Gene Name |
bromodomain containing 3 |
| Synonyms |
RINGL3, Fsrg2, ORFX, 2410084F24Rik |
| MMRRC Submission |
045786-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R7730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
27335588-27397669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27346967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 389
(Y389C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076918
(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: Y389C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028282
Gene: ENSMUSG00000026918
AA Change: Y389C
| 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: Y389C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076918
Gene: ENSMUSG00000026918
AA Change: Y389C
| 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: Y389C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109574
Gene: ENSMUSG00000026918
AA Change: Y389C
| 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 |
probably damaging
Transcript: ENSMUST00000138693
AA Change: Y389C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115755
Gene: ENSMUSG00000026918
AA Change: Y389C
| 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: Y389C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114422
Gene: ENSMUSG00000026918
AA Change: Y389C
| 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: Y389C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128812
Gene: ENSMUSG00000026918
AA Change: Y389C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
A |
11: 48,838,703 (GRCm39) |
H628L |
probably benign |
Het |
| Adam6a |
T |
A |
12: 113,507,660 (GRCm39) |
V11E |
possibly damaging |
Het |
| Amotl1 |
T |
G |
9: 14,467,059 (GRCm39) |
K660T |
possibly damaging |
Het |
| Ap4m1 |
T |
C |
5: 138,171,077 (GRCm39) |
I59T |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Card11 |
C |
A |
5: 140,871,751 (GRCm39) |
R650L |
probably damaging |
Het |
| Cercam |
G |
A |
2: 29,762,574 (GRCm39) |
|
probably null |
Het |
| Cnst |
T |
C |
1: 179,452,650 (GRCm39) |
C673R |
probably damaging |
Het |
| Dld |
G |
T |
12: 31,390,864 (GRCm39) |
T194K |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,507,890 (GRCm39) |
W1714R |
probably damaging |
Het |
| Dsg1a |
T |
G |
18: 20,464,768 (GRCm39) |
V421G |
possibly damaging |
Het |
| Fer1l4 |
G |
T |
2: 155,890,854 (GRCm39) |
P188Q |
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,831,158 (GRCm39) |
S753P |
probably damaging |
Het |
| Hdc |
A |
T |
2: 126,436,002 (GRCm39) |
M623K |
possibly damaging |
Het |
| Herc1 |
CAACCCTGGTAAC |
CAAC |
9: 66,400,472 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,954,878 (GRCm39) |
F203I |
probably damaging |
Het |
| Jag2 |
A |
T |
12: 112,885,661 (GRCm39) |
I145N |
probably damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,446,686 (GRCm39) |
F694I |
probably benign |
Het |
| Lpl |
A |
T |
8: 69,340,100 (GRCm39) |
R32* |
probably null |
Het |
| Mcpt4 |
T |
A |
14: 56,297,428 (GRCm39) |
I243L |
probably benign |
Het |
| Mtf1 |
C |
A |
4: 124,732,412 (GRCm39) |
A490E |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,360,791 (GRCm39) |
M4497K |
probably damaging |
Het |
| Myog |
T |
C |
1: 134,218,914 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
C |
7: 49,222,145 (GRCm39) |
S1757P |
probably damaging |
Het |
| Or7g18 |
T |
G |
9: 18,786,709 (GRCm39) |
F26V |
probably benign |
Het |
| Osmr |
T |
A |
15: 6,853,963 (GRCm39) |
I583F |
probably damaging |
Het |
| Phf19 |
T |
A |
2: 34,785,816 (GRCm39) |
E551V |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,046,533 (GRCm39) |
M870T |
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,895,720 (GRCm39) |
F83L |
probably damaging |
Het |
| Reep1 |
T |
A |
6: 71,757,725 (GRCm39) |
V108D |
possibly damaging |
Het |
| Rorc |
A |
G |
3: 94,300,421 (GRCm39) |
T455A |
probably benign |
Het |
| Serinc5 |
T |
G |
13: 92,821,698 (GRCm39) |
I169S |
probably damaging |
Het |
| Serpinb6c |
T |
C |
13: 34,083,292 (GRCm39) |
M41V |
probably damaging |
Het |
| Sgsm3 |
A |
T |
15: 80,892,927 (GRCm39) |
N335Y |
probably damaging |
Het |
| Slamf7 |
C |
T |
1: 171,468,589 (GRCm39) |
R101H |
possibly damaging |
Het |
| Slc17a4 |
A |
T |
13: 24,084,503 (GRCm39) |
L427* |
probably null |
Het |
| Slc35a5 |
T |
C |
16: 44,964,246 (GRCm39) |
Q329R |
probably damaging |
Het |
| Slc45a1 |
C |
T |
4: 150,715,397 (GRCm39) |
C656Y |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,773,643 (GRCm39) |
I18T |
probably damaging |
Het |
| Syn3 |
T |
G |
10: 86,284,773 (GRCm39) |
H109P |
probably benign |
Het |
| Synj2 |
T |
C |
17: 6,066,562 (GRCm39) |
V580A |
probably benign |
Het |
| Tbc1d9b |
T |
C |
11: 50,026,742 (GRCm39) |
V70A |
possibly damaging |
Het |
| Tc2n |
A |
G |
12: 101,617,406 (GRCm39) |
Y402H |
probably damaging |
Het |
| Tmbim4 |
T |
C |
10: 120,059,767 (GRCm39) |
C164R |
possibly damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,117,470 (GRCm39) |
R262* |
probably null |
Het |
| Tnip1 |
T |
C |
11: 54,828,805 (GRCm39) |
K121E |
probably benign |
Het |
| Tut1 |
T |
C |
19: 8,941,740 (GRCm39) |
|
probably null |
Het |
| Uhrf2 |
T |
A |
19: 30,052,501 (GRCm39) |
C332S |
probably damaging |
Het |
| Vmn2r101 |
A |
G |
17: 19,831,950 (GRCm39) |
I649V |
possibly damaging |
Het |
| Vwa8 |
A |
G |
14: 79,232,589 (GRCm39) |
T644A |
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,304,357 (GRCm39) |
H1209R |
possibly damaging |
Het |
| Zfp384 |
A |
G |
6: 125,008,635 (GRCm39) |
I306V |
probably benign |
Het |
| Zfp964 |
A |
G |
8: 70,116,360 (GRCm39) |
E320G |
possibly damaging |
Het |
| Zmym2 |
A |
T |
14: 57,193,638 (GRCm39) |
Y1151F |
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 |
|
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 |
|
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'- GCAGGATCTCACACAGGTAG -3'
(R):5'- AATTGCCAGATGCCTGACTG -3'
Sequencing Primer
(F):5'- TGGAAGCAAGGCGCCTCAG -3'
(R):5'- CCTGACTGGCAGTTGGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation