Incidental Mutation 'R9496:Brpf3'
| ID |
717247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brpf3
|
| Ensembl Gene |
ENSMUSG00000063952 |
| Gene Name |
bromodomain and PHD finger containing, 3 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.424)
|
| Stock # |
R9496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
29020088-29057763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29040453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 958
(D958G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004985]
|
| AlphaFold |
B2KF05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004985
AA Change: D958G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000004985
Gene: ENSMUSG00000063952
AA Change: D958G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2a |
A |
T |
19: 6,310,022 (GRCm39) |
Q1735L |
possibly damaging |
Het |
| Cacna1g |
A |
G |
11: 94,356,711 (GRCm39) |
F142L |
probably benign |
Het |
| Calcoco1 |
C |
T |
15: 102,619,876 (GRCm39) |
A303T |
probably benign |
Het |
| Chat |
C |
A |
14: 32,148,119 (GRCm39) |
C306F |
probably benign |
Het |
| Ciita |
T |
G |
16: 10,298,009 (GRCm39) |
M1R |
probably null |
Het |
| Ckap2l |
A |
C |
2: 129,112,595 (GRCm39) |
S638A |
probably benign |
Het |
| Coro1c |
C |
T |
5: 113,983,337 (GRCm39) |
G397D |
probably benign |
Het |
| Cyb5r2 |
A |
G |
7: 107,353,954 (GRCm39) |
V72A |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,271,164 (GRCm39) |
T314A |
probably benign |
Het |
| Dcun1d4 |
T |
G |
5: 73,668,272 (GRCm39) |
H37Q |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,857,464 (GRCm39) |
S725R |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,089,460 (GRCm39) |
Y744H |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,004,885 (GRCm39) |
N916S |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,855,853 (GRCm39) |
K1287E |
unknown |
Het |
| Epo |
C |
T |
5: 137,482,401 (GRCm39) |
V89I |
probably benign |
Het |
| Fbxw15 |
A |
T |
9: 109,397,291 (GRCm39) |
I3N |
probably benign |
Het |
| Fcgr3 |
A |
C |
1: 170,879,386 (GRCm39) |
Y219D |
possibly damaging |
Het |
| Fign |
A |
T |
2: 63,809,253 (GRCm39) |
C672* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,793,062 (GRCm39) |
R406S |
probably benign |
Het |
| Gli2 |
A |
G |
1: 118,764,425 (GRCm39) |
V1242A |
probably benign |
Het |
| Gm10577 |
C |
T |
4: 100,877,745 (GRCm39) |
C50Y |
unknown |
Het |
| Gm11568 |
GCTGCTGCCAGCCCTGCTGCCAGCCC |
GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC |
11: 99,749,044 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,291,571 (GRCm39) |
L826P |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,579,971 (GRCm39) |
D1922G |
probably benign |
Het |
| Itga2b |
C |
T |
11: 102,358,629 (GRCm39) |
C96Y |
probably damaging |
Het |
| Itih2 |
A |
T |
2: 10,106,984 (GRCm39) |
I670N |
probably benign |
Het |
| Lypla1 |
A |
T |
1: 4,898,813 (GRCm39) |
|
probably benign |
Het |
| Mettl16 |
T |
C |
11: 74,707,696 (GRCm39) |
S337P |
possibly damaging |
Het |
| Myh11 |
G |
A |
16: 14,048,616 (GRCm39) |
Q564* |
probably null |
Het |
| Myrf |
A |
G |
19: 10,193,840 (GRCm39) |
F529L |
probably benign |
Het |
| Nell2 |
T |
G |
15: 95,194,097 (GRCm39) |
I539L |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,685,502 (GRCm39) |
V646E |
possibly damaging |
Het |
| Nin |
T |
C |
12: 70,102,762 (GRCm39) |
T289A |
|
Het |
| Obsl1 |
C |
T |
1: 75,467,484 (GRCm39) |
C1430Y |
probably damaging |
Het |
| Otog |
T |
C |
7: 45,890,505 (GRCm39) |
L18P |
unknown |
Het |
| Pkd1l1 |
C |
A |
11: 8,783,773 (GRCm39) |
|
probably null |
Het |
| Pum1 |
T |
C |
4: 130,446,664 (GRCm39) |
|
probably null |
Het |
| Rhbdl1 |
A |
T |
17: 26,055,371 (GRCm39) |
|
probably null |
Het |
| Rmdn2 |
T |
A |
17: 79,975,425 (GRCm39) |
L305I |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,312,493 (GRCm39) |
|
probably null |
Het |
| Shtn1 |
G |
T |
19: 58,963,457 (GRCm39) |
S619R |
probably damaging |
Het |
| Smpd1 |
G |
A |
7: 105,205,202 (GRCm39) |
|
probably null |
Het |
| Tepsin |
A |
G |
11: 119,982,357 (GRCm39) |
L571S |
probably damaging |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tssk5 |
T |
C |
15: 76,258,856 (GRCm39) |
D10G |
probably benign |
Het |
| Usp39 |
A |
G |
6: 72,302,759 (GRCm39) |
Y432H |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,149,227 (GRCm39) |
V205D |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,258,122 (GRCm39) |
V757A |
probably benign |
Het |
| Zc2hc1b |
A |
T |
10: 13,044,540 (GRCm39) |
F41Y |
probably damaging |
Het |
| Zfp1007 |
A |
G |
5: 109,823,924 (GRCm39) |
S509P |
probably damaging |
Het |
| Zfp114 |
A |
T |
7: 23,880,463 (GRCm39) |
S271C |
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 |
|
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAATCAGCCCTGCAACTGG -3'
(R):5'- TCCCTGTCAAGGCAAAGCAG -3'
Sequencing Primer
(F):5'- CAATGCTTGCTTAGTGACAATGGC -3'
(R):5'- CTGTCAAGGCAAAGCAGCAAAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation