Incidental Mutation 'R8200:Brpf3'
| ID |
635649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brpf3
|
| Ensembl Gene |
ENSMUSG00000063952 |
| Gene Name |
bromodomain and PHD finger containing, 3 |
| Synonyms |
|
| MMRRC Submission |
067623-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.424)
|
| Stock # |
R8200 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
29020088-29057763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 29025248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 107
(A107V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004985]
|
| AlphaFold |
B2KF05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004985
AA Change: A107V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000004985
Gene: ENSMUSG00000063952
AA Change: A107V
| 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 |
|
| Meta Mutation Damage Score |
0.0936 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.3%
|
| Validation Efficiency |
100% (38/38) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930555G01Rik |
T |
A |
14: 5,052,797 (GRCm38) |
M132K |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,531,162 (GRCm39) |
I431V |
probably benign |
Het |
| Ache |
A |
G |
5: 137,292,457 (GRCm39) |
Q601R |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,558,766 (GRCm39) |
C279* |
probably null |
Het |
| Brms1l |
T |
C |
12: 55,891,183 (GRCm39) |
L79P |
probably damaging |
Het |
| Catsperd |
T |
C |
17: 56,939,368 (GRCm39) |
|
probably null |
Het |
| Ccnb1ip1 |
C |
T |
14: 51,029,750 (GRCm39) |
R104H |
probably benign |
Het |
| Ces1g |
T |
A |
8: 94,055,085 (GRCm39) |
N204I |
probably damaging |
Het |
| Cmbl |
T |
C |
15: 31,585,539 (GRCm39) |
V141A |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,387,630 (GRCm39) |
H69Q |
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,905,524 (GRCm39) |
L4113P |
probably damaging |
Het |
| Fam120a |
T |
C |
13: 49,102,595 (GRCm39) |
H220R |
probably damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Gm43218 |
C |
T |
6: 70,217,528 (GRCm39) |
G76E |
probably damaging |
Het |
| Gypa |
A |
T |
8: 81,220,695 (GRCm39) |
T5S |
unknown |
Het |
| Hyal6 |
A |
G |
6: 24,734,565 (GRCm39) |
D166G |
probably benign |
Het |
| Immt |
T |
A |
6: 71,848,421 (GRCm39) |
V470D |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,371,826 (GRCm39) |
S1167G |
probably benign |
Het |
| Ndufs1 |
A |
T |
1: 63,209,331 (GRCm39) |
|
probably null |
Het |
| Nr1i3 |
C |
A |
1: 171,045,266 (GRCm39) |
H305N |
probably benign |
Het |
| Nucb2 |
T |
C |
7: 116,132,398 (GRCm39) |
|
probably null |
Het |
| Plau |
A |
C |
14: 20,889,181 (GRCm39) |
K130T |
possibly damaging |
Het |
| Ppef2 |
A |
T |
5: 92,393,251 (GRCm39) |
V246E |
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,102,337 (GRCm39) |
V2499I |
probably benign |
Het |
| Rnf207 |
C |
T |
4: 152,398,492 (GRCm39) |
|
probably null |
Het |
| Septin9 |
A |
G |
11: 117,123,542 (GRCm39) |
T7A |
probably benign |
Het |
| Sh3bp5l |
T |
C |
11: 58,222,685 (GRCm39) |
I60T |
probably damaging |
Het |
| Taar9 |
A |
G |
10: 23,985,317 (GRCm39) |
L39P |
probably damaging |
Het |
| Tcl1b5 |
A |
T |
12: 105,145,212 (GRCm39) |
M59L |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Thap2 |
A |
T |
10: 115,212,392 (GRCm39) |
F44L |
|
Het |
| Trp53bp1 |
A |
G |
2: 121,066,657 (GRCm39) |
S690P |
probably benign |
Het |
| Ttc9 |
T |
C |
12: 81,707,435 (GRCm39) |
Y165H |
probably damaging |
Het |
| Ttll11 |
A |
G |
2: 35,834,940 (GRCm39) |
I162T |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
| Tuft1 |
A |
T |
3: 94,523,977 (GRCm39) |
D292E |
probably damaging |
Het |
| Ubap2l |
T |
C |
3: 89,930,933 (GRCm39) |
S365G |
probably benign |
Het |
| Ugt2b37 |
G |
A |
5: 87,388,750 (GRCm39) |
Q488* |
probably null |
Het |
| Vmo1 |
A |
G |
11: 70,405,325 (GRCm39) |
V35A |
possibly damaging |
Het |
| Wdr36 |
A |
G |
18: 32,998,979 (GRCm39) |
K875R |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCCAGAGGATTGTTGAG -3'
(R):5'- TCTCGTTGACCATGTCTAGC -3'
Sequencing Primer
(F):5'- CCCAGAGGATTGTTGAGGTCGAC -3'
(R):5'- ATGTCTAGCCAGGCAATGTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation