Incidental Mutation 'IGL03036:Brpf3'
| ID |
408651 |
| 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: 0.424)
|
| Stock # |
IGL03036
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
29020088-29057763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29043022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1021
(L1021P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004985]
|
| AlphaFold |
B2KF05 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004985
AA Change: L1021P
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000004985
Gene: ENSMUSG00000063952
AA Change: L1021P
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17a |
A |
T |
10: 80,421,534 (GRCm39) |
Y145* |
probably null |
Het |
| Afdn |
T |
G |
17: 14,108,350 (GRCm39) |
I1291S |
probably benign |
Het |
| Arfgap3 |
T |
G |
15: 83,191,127 (GRCm39) |
I16L |
possibly damaging |
Het |
| Bbs12 |
T |
A |
3: 37,373,343 (GRCm39) |
H45Q |
possibly damaging |
Het |
| Cep170 |
A |
G |
1: 176,596,903 (GRCm39) |
S485P |
possibly damaging |
Het |
| Cgref1 |
A |
T |
5: 31,090,937 (GRCm39) |
N292K |
probably damaging |
Het |
| Chst3 |
A |
T |
10: 60,022,261 (GRCm39) |
Y195* |
probably null |
Het |
| Clmn |
T |
C |
12: 104,740,782 (GRCm39) |
Y125C |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,729,692 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
A |
T |
19: 37,002,348 (GRCm39) |
I688N |
probably damaging |
Het |
| Cpn2 |
A |
T |
16: 30,079,647 (GRCm39) |
L18H |
probably benign |
Het |
| Crybg3 |
T |
A |
16: 59,375,542 (GRCm39) |
H1904L |
possibly damaging |
Het |
| Csde1 |
C |
T |
3: 102,951,155 (GRCm39) |
P249S |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,721,339 (GRCm39) |
L377P |
probably damaging |
Het |
| Dmwd |
A |
T |
7: 18,815,054 (GRCm39) |
K568M |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,712,134 (GRCm39) |
I90T |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,680,281 (GRCm39) |
I426T |
probably damaging |
Het |
| Edc4 |
G |
A |
8: 106,613,943 (GRCm39) |
|
probably null |
Het |
| Elac1 |
G |
T |
18: 73,871,985 (GRCm39) |
Q337K |
probably benign |
Het |
| Exd2 |
G |
T |
12: 80,536,185 (GRCm39) |
A272S |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,435,853 (GRCm39) |
I220V |
possibly damaging |
Het |
| Fblim1 |
G |
T |
4: 141,310,435 (GRCm39) |
R276S |
possibly damaging |
Het |
| Fn1 |
A |
C |
1: 71,668,932 (GRCm39) |
L671R |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,877,576 (GRCm39) |
F1334I |
possibly damaging |
Het |
| H2-T23 |
T |
A |
17: 36,343,249 (GRCm39) |
I43F |
possibly damaging |
Het |
| Hp1bp3 |
G |
A |
4: 137,956,043 (GRCm39) |
G202D |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,536,675 (GRCm39) |
M632V |
probably damaging |
Het |
| Klra5 |
T |
A |
6: 129,885,830 (GRCm39) |
S20C |
probably damaging |
Het |
| Lancl1 |
A |
T |
1: 67,046,074 (GRCm39) |
C276S |
probably damaging |
Het |
| Lect2 |
A |
G |
13: 56,690,520 (GRCm39) |
*152Q |
probably null |
Het |
| Maff |
C |
A |
15: 79,241,658 (GRCm39) |
S25* |
probably null |
Het |
| Mtr |
A |
G |
13: 12,262,263 (GRCm39) |
L171P |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,202,855 (GRCm39) |
Y236* |
probably null |
Het |
| Neb |
A |
C |
2: 52,134,165 (GRCm39) |
Y3273D |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,673,333 (GRCm39) |
I66K |
probably benign |
Het |
| Or4c110 |
T |
C |
2: 88,832,459 (GRCm39) |
M58V |
possibly damaging |
Het |
| Psmd14 |
A |
G |
2: 61,614,205 (GRCm39) |
Y200C |
probably damaging |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Ptk2b |
T |
A |
14: 66,411,344 (GRCm39) |
|
probably benign |
Het |
| Pum3 |
G |
A |
19: 27,398,713 (GRCm39) |
T279M |
probably damaging |
Het |
| Rabl6 |
C |
T |
2: 25,474,868 (GRCm39) |
G614D |
probably benign |
Het |
| Ripk3 |
T |
C |
14: 56,024,796 (GRCm39) |
D128G |
probably benign |
Het |
| Serinc4 |
A |
T |
2: 121,270,039 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
T |
G |
6: 141,954,333 (GRCm39) |
I47L |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,235,902 (GRCm39) |
S322P |
probably benign |
Het |
| Spmap2l |
A |
C |
5: 77,164,197 (GRCm39) |
K67Q |
possibly damaging |
Het |
| Srebf1 |
A |
T |
11: 60,111,284 (GRCm39) |
I29N |
possibly damaging |
Het |
| Stk38l |
T |
C |
6: 146,670,372 (GRCm39) |
L238S |
probably damaging |
Het |
| Supt20 |
T |
A |
3: 54,616,723 (GRCm39) |
C298* |
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 54,054,389 (GRCm39) |
D459G |
probably damaging |
Het |
| Ulk2 |
A |
T |
11: 61,725,660 (GRCm39) |
L139M |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,235,249 (GRCm39) |
N3279S |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,596,818 (GRCm39) |
R3853G |
possibly damaging |
Het |
| Usp7 |
C |
T |
16: 8,556,078 (GRCm39) |
M24I |
probably benign |
Het |
| Vil1 |
A |
G |
1: 74,458,771 (GRCm39) |
T131A |
probably damaging |
Het |
| Vmn2r2 |
C |
T |
3: 64,024,321 (GRCm39) |
M753I |
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,601,900 (GRCm39) |
Y579* |
probably null |
Het |
| Zdhhc3 |
A |
T |
9: 122,929,582 (GRCm39) |
Y18N |
probably damaging |
Het |
| Zfp609 |
C |
T |
9: 65,609,927 (GRCm39) |
S1012N |
possibly damaging |
Het |
| Zfr2 |
A |
T |
10: 81,077,985 (GRCm39) |
M271L |
probably benign |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation