Incidental Mutation 'R6439:Brd3'
| ID |
518925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brd3
|
| Ensembl Gene |
ENSMUSG00000026918 |
| Gene Name |
bromodomain containing 3 |
| Synonyms |
RINGL3, Fsrg2, ORFX, 2410084F24Rik |
| MMRRC Submission |
044577-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.393)
|
| Stock # |
R6439 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
27335588-27397669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27353938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 58
(F58S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114422
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028282]
[ENSMUST00000077737]
[ENSMUST00000113941]
[ENSMUST00000138693]
[ENSMUST00000147736]
[ENSMUST00000154316]
[ENSMUST00000164296]
|
| AlphaFold |
Q8K2F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028282
AA Change: F58S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028282
Gene: ENSMUSG00000026918
AA Change: F58S
| 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: F58S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076918
Gene: ENSMUSG00000026918
AA Change: F58S
| 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: F58S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109574
Gene: ENSMUSG00000026918
AA Change: F58S
| 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: F58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115755
Gene: ENSMUSG00000026918
AA Change: F58S
| 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 damaging
Transcript: ENSMUST00000147736
AA Change: F58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122009
Gene: ENSMUSG00000026918
AA Change: F58S
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
31 |
90 |
3.19e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154316
AA Change: F58S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114422
Gene: ENSMUSG00000026918
AA Change: F58S
| 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: F58S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128812
Gene: ENSMUSG00000026918
AA Change: F58S
| 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 |
0.9735 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (35/35) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
T |
C |
15: 57,895,444 (GRCm39) |
D18G |
probably null |
Het |
| A530064D06Rik |
A |
G |
17: 48,473,653 (GRCm39) |
V88A |
probably damaging |
Het |
| Abhd6 |
T |
C |
14: 8,055,589 (GRCm38) |
L272P |
probably damaging |
Het |
| Adam25 |
C |
T |
8: 41,207,627 (GRCm39) |
R298C |
possibly damaging |
Het |
| Adam34l |
T |
C |
8: 44,078,988 (GRCm39) |
N412S |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,916,818 (GRCm39) |
N219D |
possibly damaging |
Het |
| Ceacam3 |
G |
A |
7: 16,892,253 (GRCm39) |
R332H |
possibly damaging |
Het |
| Cfap57 |
C |
A |
4: 118,446,172 (GRCm39) |
|
probably null |
Het |
| Chd2 |
A |
G |
7: 73,130,154 (GRCm39) |
F834L |
probably damaging |
Het |
| Crocc2 |
A |
G |
1: 93,111,126 (GRCm39) |
K140E |
possibly damaging |
Het |
| Fam117b |
A |
G |
1: 60,020,731 (GRCm39) |
T534A |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,102,487 (GRCm39) |
V14I |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,359,257 (GRCm39) |
E291V |
probably damaging |
Het |
| Hbp1 |
A |
G |
12: 31,987,720 (GRCm39) |
L146S |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,799,276 (GRCm39) |
D616G |
possibly damaging |
Het |
| Igfbp5 |
A |
C |
1: 72,902,300 (GRCm39) |
|
probably null |
Het |
| Jak2 |
C |
T |
19: 29,287,022 (GRCm39) |
|
probably null |
Het |
| Mpl |
T |
C |
4: 118,305,750 (GRCm39) |
D425G |
probably damaging |
Het |
| Ms4a4c |
T |
C |
19: 11,398,676 (GRCm39) |
S165P |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,392,911 (GRCm39) |
S3217P |
probably benign |
Het |
| Nfatc3 |
T |
A |
8: 106,810,502 (GRCm39) |
L426* |
probably null |
Het |
| Or4f47 |
T |
C |
2: 111,972,509 (GRCm39) |
V73A |
probably benign |
Het |
| Or5ak24 |
T |
C |
2: 85,261,068 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,818 (GRCm39) |
Y260N |
probably damaging |
Het |
| Phf1 |
G |
T |
17: 27,155,586 (GRCm39) |
V384L |
probably benign |
Het |
| Rangap1 |
T |
C |
15: 81,596,336 (GRCm39) |
T259A |
probably benign |
Het |
| Rec8 |
A |
G |
14: 55,856,076 (GRCm39) |
N6S |
possibly damaging |
Het |
| Rmdn2 |
G |
A |
17: 79,934,971 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
C |
12: 40,118,945 (GRCm39) |
Y617C |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,400,221 (GRCm39) |
S744G |
probably benign |
Het |
| Ttc14 |
T |
C |
3: 33,862,968 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
T |
C |
1: 36,214,032 (GRCm39) |
E219G |
possibly damaging |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,704 (GRCm39) |
D169G |
possibly damaging |
Het |
| Vmn1r72 |
A |
T |
7: 11,413,064 (GRCm39) |
|
probably null |
Het |
| Zfp326 |
T |
G |
5: 106,036,584 (GRCm39) |
M76R |
probably null |
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 |
|
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'- CATGTGGTCTGAGGAGAGTC -3'
(R):5'- TAAGCTGCCAGAGGATGTCC -3'
Sequencing Primer
(F):5'- TGAGACCCGCTGCTCTAG -3'
(R):5'- TGCCAGAGGATGTCCACTACAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation