Incidental Mutation 'IGL02888:Brpf3'
ID |
363061 |
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 # |
IGL02888
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
29020088-29057763 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 29047365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 1043
(R1043H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004985]
|
AlphaFold |
B2KF05 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004985
AA Change: R1043H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000004985 Gene: ENSMUSG00000063952 AA Change: R1043H
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: ENSMUST00000127007
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140587
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140973
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144022
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,104,610 (GRCm39) |
H345R |
probably damaging |
Het |
Afap1l1 |
T |
A |
18: 61,881,879 (GRCm39) |
Y272F |
probably damaging |
Het |
AI661453 |
C |
A |
17: 47,778,329 (GRCm39) |
|
probably benign |
Het |
Ajap1 |
T |
G |
4: 153,516,718 (GRCm39) |
I208L |
probably benign |
Het |
Aldh3b2 |
G |
A |
19: 4,030,083 (GRCm39) |
V356M |
probably benign |
Het |
Angptl7 |
T |
A |
4: 148,580,788 (GRCm39) |
|
probably benign |
Het |
Atp2a3 |
G |
A |
11: 72,867,954 (GRCm39) |
|
probably benign |
Het |
Birc2 |
T |
C |
9: 7,819,559 (GRCm39) |
D451G |
probably benign |
Het |
Cd177 |
A |
G |
7: 24,457,862 (GRCm39) |
L132P |
probably damaging |
Het |
Chsy3 |
A |
G |
18: 59,543,067 (GRCm39) |
D735G |
probably benign |
Het |
Cldn8 |
A |
T |
16: 88,359,271 (GRCm39) |
I218K |
probably benign |
Het |
Cltc |
T |
C |
11: 86,648,123 (GRCm39) |
|
probably benign |
Het |
Col22a1 |
T |
C |
15: 71,718,068 (GRCm39) |
H619R |
unknown |
Het |
Crxos |
G |
A |
7: 15,636,855 (GRCm39) |
E143K |
possibly damaging |
Het |
Dcp1b |
A |
G |
6: 119,197,048 (GRCm39) |
|
probably benign |
Het |
Ddc |
A |
G |
11: 11,772,297 (GRCm39) |
|
probably benign |
Het |
Dnajc13 |
A |
T |
9: 104,057,261 (GRCm39) |
|
probably benign |
Het |
Dnajc27 |
C |
T |
12: 4,139,186 (GRCm39) |
H75Y |
possibly damaging |
Het |
Fgd3 |
C |
T |
13: 49,435,292 (GRCm39) |
|
probably null |
Het |
Gcc2 |
A |
G |
10: 58,130,650 (GRCm39) |
D1414G |
probably damaging |
Het |
Gtf3c2 |
G |
A |
5: 31,331,169 (GRCm39) |
P169L |
probably damaging |
Het |
Ighv1-76 |
T |
A |
12: 115,811,566 (GRCm39) |
S96C |
probably damaging |
Het |
Lmbrd1 |
T |
A |
1: 24,754,053 (GRCm39) |
I206K |
possibly damaging |
Het |
Lypd5 |
A |
G |
7: 24,052,044 (GRCm39) |
S120G |
probably damaging |
Het |
Mgat4b |
T |
A |
11: 50,123,159 (GRCm39) |
Y249N |
probably damaging |
Het |
Msh4 |
A |
T |
3: 153,602,550 (GRCm39) |
L32* |
probably null |
Het |
Muc4 |
A |
G |
16: 32,575,656 (GRCm39) |
|
probably benign |
Het |
Myo6 |
A |
G |
9: 80,177,013 (GRCm39) |
|
probably benign |
Het |
Nenf |
T |
C |
1: 191,042,118 (GRCm39) |
T113A |
probably benign |
Het |
Nup85 |
A |
G |
11: 115,469,626 (GRCm39) |
D75G |
possibly damaging |
Het |
Nutm1 |
A |
T |
2: 112,080,980 (GRCm39) |
L438Q |
probably damaging |
Het |
Oas1h |
A |
T |
5: 120,999,610 (GRCm39) |
I32F |
probably benign |
Het |
Oasl1 |
G |
A |
5: 115,075,241 (GRCm39) |
V434M |
probably damaging |
Het |
Or2a5 |
A |
G |
6: 42,874,263 (GRCm39) |
N293D |
probably damaging |
Het |
Or9s27 |
T |
C |
1: 92,516,925 (GRCm39) |
L291P |
probably damaging |
Het |
Pde2a |
C |
A |
7: 101,154,276 (GRCm39) |
H549Q |
probably damaging |
Het |
Phkb |
G |
T |
8: 86,662,101 (GRCm39) |
|
probably null |
Het |
Pigm |
T |
C |
1: 172,205,214 (GRCm39) |
C317R |
probably damaging |
Het |
Ppl |
A |
T |
16: 4,918,271 (GRCm39) |
S470R |
possibly damaging |
Het |
Pramel14 |
G |
A |
4: 143,720,669 (GRCm39) |
R91W |
probably benign |
Het |
Slc13a4 |
A |
T |
6: 35,245,775 (GRCm39) |
D623E |
probably benign |
Het |
Stx11 |
A |
G |
10: 12,817,359 (GRCm39) |
S122P |
possibly damaging |
Het |
Sytl3 |
A |
G |
17: 7,000,483 (GRCm39) |
T218A |
probably benign |
Het |
Tango6 |
A |
G |
8: 107,447,297 (GRCm39) |
D565G |
probably damaging |
Het |
Tex14 |
T |
C |
11: 87,418,738 (GRCm39) |
|
probably null |
Het |
Tinag |
T |
C |
9: 76,938,995 (GRCm39) |
D161G |
probably benign |
Het |
Vcpip1 |
T |
C |
1: 9,795,011 (GRCm39) |
D1120G |
probably damaging |
Het |
Zfp446 |
G |
A |
7: 12,713,255 (GRCm39) |
A98T |
probably 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 |
IGL02073:Brpf3
|
APN |
17 |
29,026,370 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
2015-12-18 |