Incidental Mutation 'R5923:Brpf3'
| ID |
461697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brpf3
|
| Ensembl Gene |
ENSMUSG00000063952 |
| Gene Name |
bromodomain and PHD finger containing, 3 |
| Synonyms |
|
| MMRRC Submission |
043241-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.459)
|
| Stock # |
R5923 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
29020088-29057763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 29025610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 228
(V228I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004985]
|
| AlphaFold |
B2KF05 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004985
AA Change: V228I
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000004985
Gene: ENSMUSG00000063952
AA Change: V228I
| 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 |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.6%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513I03Rik |
T |
G |
10: 120,614,675 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
A |
G |
11: 110,051,378 (GRCm39) |
V106A |
probably benign |
Het |
| Arnt2 |
G |
T |
7: 83,911,741 (GRCm39) |
T577K |
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,974,762 (GRCm39) |
T2184I |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,833,105 (GRCm39) |
N890S |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,004,560 (GRCm39) |
M120K |
possibly damaging |
Het |
| Cdr2 |
A |
G |
7: 120,581,224 (GRCm39) |
Y18H |
probably damaging |
Het |
| Cilp2 |
A |
G |
8: 70,335,525 (GRCm39) |
F491S |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,490,889 (GRCm39) |
S185T |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,220,840 (GRCm39) |
S2215P |
probably benign |
Het |
| Echdc3 |
A |
G |
2: 6,194,383 (GRCm39) |
V224A |
possibly damaging |
Het |
| Hivep3 |
G |
T |
4: 119,953,490 (GRCm39) |
S602I |
possibly damaging |
Het |
| Itga2 |
T |
C |
13: 115,021,055 (GRCm39) |
S99G |
probably benign |
Het |
| Kat6a |
A |
G |
8: 23,429,495 (GRCm39) |
T1617A |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,569,661 (GRCm39) |
E1020G |
unknown |
Het |
| Nbeal1 |
T |
C |
1: 60,287,554 (GRCm39) |
F933L |
probably damaging |
Het |
| Ntrk3 |
A |
T |
7: 78,101,676 (GRCm39) |
I419N |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,194,102 (GRCm39) |
I136V |
probably benign |
Het |
| Or8b38 |
T |
A |
9: 37,973,154 (GRCm39) |
D179E |
probably benign |
Het |
| Plcb4 |
A |
T |
2: 135,803,734 (GRCm39) |
K536* |
probably null |
Het |
| Polk |
A |
T |
13: 96,631,923 (GRCm39) |
I270N |
probably damaging |
Het |
| Prl6a1 |
A |
T |
13: 27,500,346 (GRCm39) |
M106L |
probably benign |
Het |
| Scap |
G |
T |
9: 110,212,648 (GRCm39) |
D1027Y |
probably damaging |
Het |
| Spg11 |
A |
T |
2: 121,923,959 (GRCm39) |
H787Q |
probably damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,781,507 (GRCm39) |
D215G |
probably damaging |
Het |
| Tbcd |
G |
A |
11: 121,470,978 (GRCm39) |
C665Y |
probably benign |
Het |
| Tmc8 |
C |
T |
11: 117,674,638 (GRCm39) |
R118C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,642,901 (GRCm39) |
H13245L |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,078,727 (GRCm39) |
S1631P |
probably damaging |
Het |
| Vmn1r12 |
G |
A |
6: 57,136,020 (GRCm39) |
G39D |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,792,751 (GRCm39) |
S693G |
probably damaging |
Het |
| Zc3h3 |
G |
T |
15: 75,657,413 (GRCm39) |
R593S |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,896,523 (GRCm39) |
L200P |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATTGCCTGGCTAGACATGG -3'
(R):5'- ATCCAGATGGCGCAGACTAC -3'
Sequencing Primer
(F):5'- TTGCCTGGCTAGACATGGTCAAC -3'
(R):5'- AGACTACGTGGGCCCAGTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation