Incidental Mutation 'IGL02715:Brd3'
ID |
304704 |
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 # |
IGL02715
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
27335588-27397669 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 27344495 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 412
(A412S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128812
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028282]
[ENSMUST00000077737]
[ENSMUST00000113941]
[ENSMUST00000138693]
[ENSMUST00000154316]
[ENSMUST00000164296]
|
AlphaFold |
Q8K2F0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028282
AA Change: A412S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000028282 Gene: ENSMUSG00000026918 AA Change: A412S
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: A412S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000076918 Gene: ENSMUSG00000026918 AA Change: A412S
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: A412S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109574 Gene: ENSMUSG00000026918 AA Change: A412S
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 benign
Transcript: ENSMUST00000138693
AA Change: A412S
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000115755 Gene: ENSMUSG00000026918 AA Change: A412S
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 benign
Transcript: ENSMUST00000154316
AA Change: A412S
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000114422 Gene: ENSMUSG00000026918 AA Change: A412S
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: A412S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000128812 Gene: ENSMUSG00000026918 AA Change: A412S
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
T |
C |
11: 72,089,714 (GRCm39) |
I57V |
probably damaging |
Het |
Abce1 |
T |
A |
8: 80,416,990 (GRCm39) |
E340D |
probably damaging |
Het |
Agbl2 |
C |
T |
2: 90,636,212 (GRCm39) |
R583W |
probably damaging |
Het |
Aig1 |
A |
G |
10: 13,744,360 (GRCm39) |
|
probably null |
Het |
Atpsckmt |
A |
G |
15: 31,606,149 (GRCm39) |
T36A |
probably benign |
Het |
C3 |
A |
G |
17: 57,511,158 (GRCm39) |
|
probably benign |
Het |
Ccdc127 |
A |
G |
13: 74,504,893 (GRCm39) |
E147G |
probably benign |
Het |
Chrna4 |
A |
G |
2: 180,671,374 (GRCm39) |
|
probably benign |
Het |
Cnn2 |
T |
C |
10: 79,829,323 (GRCm39) |
L151P |
probably damaging |
Het |
Col11a1 |
G |
T |
3: 113,923,058 (GRCm39) |
M7I |
probably benign |
Het |
Cstdc4 |
T |
C |
16: 36,008,315 (GRCm39) |
I67T |
possibly damaging |
Het |
Fastkd1 |
A |
G |
2: 69,542,469 (GRCm39) |
|
probably null |
Het |
Fcho2 |
A |
G |
13: 98,932,843 (GRCm39) |
M53T |
probably damaging |
Het |
Fmnl2 |
T |
C |
2: 52,962,222 (GRCm39) |
Y236H |
possibly damaging |
Het |
G6bos |
A |
G |
17: 35,284,537 (GRCm39) |
|
probably null |
Het |
Gramd1a |
C |
T |
7: 30,835,279 (GRCm39) |
G436D |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,007,131 (GRCm39) |
Y1243C |
probably benign |
Het |
Lrit2 |
A |
G |
14: 36,794,505 (GRCm39) |
D523G |
probably benign |
Het |
Lrrc2 |
A |
C |
9: 110,799,182 (GRCm39) |
D177A |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,848,905 (GRCm39) |
|
probably null |
Het |
Mrgpra6 |
A |
T |
7: 46,838,396 (GRCm39) |
|
probably benign |
Het |
Myh6 |
T |
C |
14: 55,184,365 (GRCm39) |
|
probably benign |
Het |
Myzap |
C |
A |
9: 71,422,397 (GRCm39) |
E392* |
probably null |
Het |
Ndst3 |
G |
A |
3: 123,340,410 (GRCm39) |
|
probably benign |
Het |
Nlrc5 |
C |
A |
8: 95,201,296 (GRCm39) |
P130H |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,971,137 (GRCm39) |
T2526A |
probably benign |
Het |
Or1e26 |
T |
A |
11: 73,479,947 (GRCm39) |
I206F |
probably benign |
Het |
Pcnt |
C |
A |
10: 76,204,556 (GRCm39) |
|
probably benign |
Het |
Pfpl |
T |
A |
19: 12,407,145 (GRCm39) |
C465* |
probably null |
Het |
Pkd1l3 |
T |
A |
8: 110,353,458 (GRCm39) |
C680S |
probably damaging |
Het |
Ppp1r10 |
G |
T |
17: 36,241,604 (GRCm39) |
G793V |
unknown |
Het |
Prss27 |
A |
T |
17: 24,263,953 (GRCm39) |
D213V |
possibly damaging |
Het |
Sh2d5 |
T |
C |
4: 137,984,018 (GRCm39) |
|
probably benign |
Het |
Spata31d1a |
T |
C |
13: 59,851,549 (GRCm39) |
D193G |
probably benign |
Het |
Sptan1 |
T |
C |
2: 29,868,588 (GRCm39) |
V66A |
probably benign |
Het |
Synpr |
T |
C |
14: 13,608,618 (GRCm38) |
S133P |
probably damaging |
Het |
Tagln3 |
T |
C |
16: 45,544,588 (GRCm39) |
N28D |
probably benign |
Het |
Tfrc |
A |
G |
16: 32,443,189 (GRCm39) |
T494A |
probably benign |
Het |
Tmem38a |
T |
C |
8: 73,333,512 (GRCm39) |
I77T |
possibly damaging |
Het |
Tmem42 |
C |
A |
9: 122,851,295 (GRCm39) |
T86N |
probably damaging |
Het |
Ttc8 |
T |
A |
12: 98,910,179 (GRCm39) |
|
probably benign |
Het |
Tub |
G |
A |
7: 108,628,517 (GRCm39) |
V342I |
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,014,218 (GRCm39) |
I337F |
probably damaging |
Het |
Xkr7 |
A |
G |
2: 152,896,277 (GRCm39) |
E377G |
probably damaging |
Het |
Zfp292 |
C |
T |
4: 34,819,542 (GRCm39) |
G260D |
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 |
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 |