Incidental Mutation 'IGL02073:Brpf3'
| ID |
185891 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Brpf3
|
| Ensembl Gene |
ENSMUSG00000063952 |
| Gene Name |
bromodomain and PHD finger containing, 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.459)
|
| Stock # |
IGL02073
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
29020088-29057763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29026370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 481
(Y481C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004985]
|
| AlphaFold |
B2KF05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004985
AA Change: Y481C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000004985
Gene: ENSMUSG00000063952
AA Change: Y481C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EPL1
|
48 |
194 |
8.4e-38 |
PFAM |
|
PHD
|
214 |
260 |
7.07e-5 |
SMART |
|
PHD
|
324 |
387 |
4.74e-6 |
SMART |
|
low complexity region
|
405 |
436 |
N/A |
INTRINSIC |
|
Blast:BROMO
|
491 |
534 |
7e-21 |
BLAST |
|
low complexity region
|
558 |
577 |
N/A |
INTRINSIC |
|
BROMO
|
586 |
694 |
4.93e-39 |
SMART |
|
low complexity region
|
777 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
823 |
N/A |
INTRINSIC |
|
PWWP
|
1073 |
1156 |
2.07e-38 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136233
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156029
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous knockout does not result in any obvious neurological, behavioral, developmental, histological, hematological, survival or reproductive phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930566N20Rik |
C |
A |
3: 156,914,039 (GRCm39) |
|
probably benign |
Het |
| 6330409D20Rik |
T |
G |
2: 32,630,698 (GRCm39) |
|
probably benign |
Het |
| Als2cl |
A |
G |
9: 110,723,407 (GRCm39) |
K659E |
probably benign |
Het |
| Bbx |
G |
A |
16: 50,022,854 (GRCm39) |
T702I |
probably damaging |
Het |
| Bcas3 |
A |
G |
11: 85,448,263 (GRCm39) |
D405G |
probably damaging |
Het |
| Csnk1g1 |
T |
A |
9: 65,909,533 (GRCm39) |
Y217N |
probably damaging |
Het |
| Cyp4f37 |
G |
T |
17: 32,846,825 (GRCm39) |
V171L |
possibly damaging |
Het |
| Dock8 |
G |
A |
19: 25,178,350 (GRCm39) |
|
probably null |
Het |
| Extl3 |
C |
A |
14: 65,313,788 (GRCm39) |
G465W |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,046,349 (GRCm39) |
I587T |
possibly damaging |
Het |
| Fstl5 |
A |
C |
3: 76,566,959 (GRCm39) |
|
probably benign |
Het |
| Gabbr2 |
T |
C |
4: 46,667,547 (GRCm39) |
N866S |
probably benign |
Het |
| Gm4871 |
T |
A |
5: 144,969,388 (GRCm39) |
K44* |
probably null |
Het |
| Hnrnpul1 |
T |
C |
7: 25,421,766 (GRCm39) |
|
probably benign |
Het |
| Jup |
A |
G |
11: 100,274,215 (GRCm39) |
|
probably benign |
Het |
| Mccc2 |
A |
T |
13: 100,136,783 (GRCm39) |
H57Q |
probably benign |
Het |
| Myo1a |
A |
T |
10: 127,546,094 (GRCm39) |
D239V |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,974,612 (GRCm39) |
S695T |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,249,743 (GRCm39) |
S1052T |
probably damaging |
Het |
| Or5k8 |
A |
G |
16: 58,644,169 (GRCm39) |
I301T |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,899,621 (GRCm39) |
N112K |
possibly damaging |
Het |
| Or8c10 |
C |
T |
9: 38,279,603 (GRCm39) |
H244Y |
probably damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,729,414 (GRCm39) |
I526K |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,621,102 (GRCm39) |
D974G |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,001 (GRCm39) |
E407G |
probably damaging |
Het |
| Polk |
A |
G |
13: 96,641,059 (GRCm39) |
V166A |
probably damaging |
Het |
| Prkar2a |
A |
G |
9: 108,610,322 (GRCm39) |
I184V |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 30,333,362 (GRCm39) |
S64P |
probably damaging |
Het |
| Rbsn |
A |
G |
6: 92,166,340 (GRCm39) |
L768P |
probably damaging |
Het |
| Ripk3 |
C |
T |
14: 56,023,482 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sar1b |
T |
C |
11: 51,680,020 (GRCm39) |
|
probably benign |
Het |
| Slx |
A |
T |
X: 26,489,755 (GRCm39) |
W89R |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Svep1 |
T |
C |
4: 58,070,104 (GRCm39) |
I2561V |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,624,721 (GRCm39) |
D1743G |
probably benign |
Het |
| Tm7sf3 |
A |
G |
6: 146,525,208 (GRCm39) |
L79P |
possibly damaging |
Het |
| Trub1 |
A |
T |
19: 57,441,379 (GRCm39) |
M1L |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,651,386 (GRCm39) |
D1577G |
possibly damaging |
Het |
| Vat1 |
A |
T |
11: 101,351,405 (GRCm39) |
M312K |
possibly damaging |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,787 (GRCm39) |
I193V |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,875,732 (GRCm39) |
I2706V |
possibly damaging |
Het |
| Wls |
T |
C |
3: 159,612,890 (GRCm39) |
|
probably null |
Het |
| Zfp955b |
A |
G |
17: 33,519,564 (GRCm39) |
T11A |
possibly damaging |
Het |
|
| Other mutations in Brpf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Brpf3
|
APN |
17 |
29,055,674 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01397:Brpf3
|
APN |
17 |
29,036,606 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01608:Brpf3
|
APN |
17 |
29,040,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02540:Brpf3
|
APN |
17 |
29,047,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02838:Brpf3
|
APN |
17 |
29,054,758 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02888:Brpf3
|
APN |
17 |
29,047,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02969:Brpf3
|
APN |
17 |
29,040,279 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03036:Brpf3
|
APN |
17 |
29,043,022 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03084:Brpf3
|
APN |
17 |
29,054,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0448:Brpf3
|
UTSW |
17 |
29,025,010 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0898:Brpf3
|
UTSW |
17 |
29,025,964 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1268:Brpf3
|
UTSW |
17 |
29,055,530 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1639:Brpf3
|
UTSW |
17 |
29,043,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1754:Brpf3
|
UTSW |
17 |
29,040,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1867:Brpf3
|
UTSW |
17 |
29,026,342 (GRCm39) |
missense |
probably benign |
|
|
R1954:Brpf3
|
UTSW |
17 |
29,025,533 (GRCm39) |
missense |
probably benign |
|
|
R2000:Brpf3
|
UTSW |
17 |
29,040,531 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2064:Brpf3
|
UTSW |
17 |
29,040,338 (GRCm39) |
missense |
probably benign |
|
|
R2209:Brpf3
|
UTSW |
17 |
29,047,394 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2413:Brpf3
|
UTSW |
17 |
29,024,924 (GRCm39) |
start gained |
probably benign |
|
|
R3977:Brpf3
|
UTSW |
17 |
29,026,016 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4067:Brpf3
|
UTSW |
17 |
29,040,233 (GRCm39) |
missense |
probably benign |
|
|
R4291:Brpf3
|
UTSW |
17 |
29,042,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4369:Brpf3
|
UTSW |
17 |
29,055,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4371:Brpf3
|
UTSW |
17 |
29,055,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4741:Brpf3
|
UTSW |
17 |
29,036,758 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4773:Brpf3
|
UTSW |
17 |
29,040,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4824:Brpf3
|
UTSW |
17 |
29,025,460 (GRCm39) |
missense |
probably benign |
|
|
R5360:Brpf3
|
UTSW |
17 |
29,029,536 (GRCm39) |
missense |
probably benign |
|
|
R5923:Brpf3
|
UTSW |
17 |
29,025,610 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6181:Brpf3
|
UTSW |
17 |
29,029,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6278:Brpf3
|
UTSW |
17 |
29,040,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6702:Brpf3
|
UTSW |
17 |
29,029,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6884:Brpf3
|
UTSW |
17 |
29,050,324 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6920:Brpf3
|
UTSW |
17 |
29,042,970 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6976:Brpf3
|
UTSW |
17 |
29,054,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7099:Brpf3
|
UTSW |
17 |
29,025,611 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7108:Brpf3
|
UTSW |
17 |
29,036,099 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7193:Brpf3
|
UTSW |
17 |
29,055,665 (GRCm39) |
makesense |
probably null |
|
|
R7316:Brpf3
|
UTSW |
17 |
29,033,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Brpf3
|
UTSW |
17 |
29,025,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7403:Brpf3
|
UTSW |
17 |
29,040,330 (GRCm39) |
missense |
probably benign |
|
|
R7666:Brpf3
|
UTSW |
17 |
29,029,546 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7686:Brpf3
|
UTSW |
17 |
29,025,908 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7691:Brpf3
|
UTSW |
17 |
29,025,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Brpf3
|
UTSW |
17 |
29,055,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8165:Brpf3
|
UTSW |
17 |
29,025,248 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8200:Brpf3
|
UTSW |
17 |
29,025,248 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8698:Brpf3
|
UTSW |
17 |
29,037,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8722:Brpf3
|
UTSW |
17 |
29,029,510 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8738:Brpf3
|
UTSW |
17 |
29,040,214 (GRCm39) |
missense |
probably benign |
|
|
R9044:Brpf3
|
UTSW |
17 |
29,025,871 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9250:Brpf3
|
UTSW |
17 |
29,054,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9349:Brpf3
|
UTSW |
17 |
29,040,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9496:Brpf3
|
UTSW |
17 |
29,040,453 (GRCm39) |
missense |
probably benign |
|
|
R9564:Brpf3
|
UTSW |
17 |
29,026,152 (GRCm39) |
missense |
probably benign |
|
|
R9649:Brpf3
|
UTSW |
17 |
29,037,597 (GRCm39) |
missense |
probably benign |
|
|
R9720:Brpf3
|
UTSW |
17 |
29,026,330 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1177:Brpf3
|
UTSW |
17 |
29,040,452 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation