Incidental Mutation 'R7099:Brpf3'
| ID |
550730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brpf3
|
| Ensembl Gene |
ENSMUSG00000063952 |
| Gene Name |
bromodomain and PHD finger containing, 3 |
| Synonyms |
|
| MMRRC Submission |
045191-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.459)
|
| Stock # |
R7099 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
29020088-29057763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29025611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 228
(V228A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004985]
|
| AlphaFold |
B2KF05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004985
AA Change: V228A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000004985
Gene: ENSMUSG00000063952
AA Change: V228A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (65/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
C |
T |
16: 64,591,151 (GRCm39) |
A26T |
probably benign |
Het |
| Acly |
T |
C |
11: 100,383,117 (GRCm39) |
|
probably null |
Het |
| Adam29 |
A |
C |
8: 56,324,439 (GRCm39) |
L672V |
probably benign |
Het |
| Adgrf1 |
T |
C |
17: 43,621,493 (GRCm39) |
S577P |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,682,452 (GRCm39) |
K1371R |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,934,009 (GRCm39) |
D631G |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,513,276 (GRCm39) |
D1457G |
probably benign |
Het |
| Calr4 |
A |
T |
4: 109,099,426 (GRCm39) |
N143I |
probably benign |
Het |
| Catsperd |
T |
G |
17: 56,935,811 (GRCm39) |
|
probably null |
Het |
| Cobl |
T |
A |
11: 12,246,540 (GRCm39) |
H154L |
|
Het |
| Cryzl2 |
G |
A |
1: 157,316,154 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
A |
G |
17: 57,374,915 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,923,698 (GRCm39) |
D1222V |
possibly damaging |
Het |
| Errfi1 |
T |
C |
4: 150,951,225 (GRCm39) |
S218P |
probably benign |
Het |
| Fbxw27 |
G |
T |
9: 109,599,223 (GRCm39) |
T398N |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,223,219 (GRCm39) |
D855G |
probably benign |
Het |
| Flii |
A |
G |
11: 60,611,481 (GRCm39) |
V410A |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,817,968 (GRCm39) |
P4567Q |
probably benign |
Het |
| Fxyd1 |
T |
G |
7: 30,752,458 (GRCm39) |
Q66H |
probably damaging |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gramd2b |
C |
T |
18: 56,625,017 (GRCm39) |
T370I |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,104,993 (GRCm39) |
V1079A |
probably damaging |
Het |
| Lmx1a |
G |
A |
1: 167,658,115 (GRCm39) |
G166D |
probably damaging |
Het |
| Lrrfip2 |
A |
G |
9: 111,002,176 (GRCm39) |
R92G |
probably benign |
Het |
| Map1a |
T |
A |
2: 121,130,998 (GRCm39) |
S605T |
probably benign |
Het |
| Megf8 |
A |
T |
7: 25,045,945 (GRCm39) |
D1496V |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,638,650 (GRCm39) |
V461A |
probably benign |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Nav3 |
T |
C |
10: 109,539,195 (GRCm39) |
T2069A |
probably benign |
Het |
| Nbeal2 |
A |
T |
9: 110,474,506 (GRCm39) |
|
probably null |
Het |
| Ndst1 |
A |
G |
18: 60,828,572 (GRCm39) |
F661L |
possibly damaging |
Het |
| Neu3 |
G |
A |
7: 99,463,027 (GRCm39) |
T232M |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,461,156 (GRCm39) |
S741P |
probably benign |
Het |
| Nr5a1 |
G |
T |
2: 38,584,148 (GRCm39) |
L424M |
probably damaging |
Het |
| Nuf2 |
G |
A |
1: 169,333,641 (GRCm39) |
T345M |
probably benign |
Het |
| Or4d10c |
A |
G |
19: 12,065,530 (GRCm39) |
F209L |
possibly damaging |
Het |
| Or4k51 |
A |
T |
2: 111,585,421 (GRCm39) |
T276S |
probably benign |
Het |
| Or6d12 |
T |
A |
6: 116,493,721 (GRCm39) |
*328R |
probably null |
Het |
| Or8g33 |
G |
A |
9: 39,337,599 (GRCm39) |
T256I |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,407,203 (GRCm39) |
E502G |
possibly damaging |
Het |
| Otulin |
A |
G |
15: 27,608,832 (GRCm39) |
L237S |
probably damaging |
Het |
| Pias1 |
A |
G |
9: 62,788,427 (GRCm39) |
M79T |
|
Het |
| Prom2 |
T |
C |
2: 127,381,698 (GRCm39) |
E206G |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,381,414 (GRCm39) |
N43K |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,441,832 (GRCm39) |
V365A |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,725,731 (GRCm39) |
T1173A |
probably damaging |
Het |
| Sidt1 |
A |
G |
16: 44,063,860 (GRCm39) |
S803P |
probably damaging |
Het |
| Slc45a1 |
A |
T |
4: 150,714,030 (GRCm39) |
D738E |
probably benign |
Het |
| Slc4a7 |
T |
A |
14: 14,733,750 (GRCm38) |
H53Q |
probably damaging |
Het |
| Spata22 |
T |
C |
11: 73,231,225 (GRCm39) |
F160L |
probably benign |
Het |
| Stag1 |
G |
A |
9: 100,826,879 (GRCm39) |
V949I |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,073,744 (GRCm39) |
S1200G |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,981,520 (GRCm39) |
E729G |
probably damaging |
Het |
| Tcaf2 |
C |
T |
6: 42,607,275 (GRCm39) |
M226I |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,081,944 (GRCm39) |
|
probably null |
Het |
| Tigd2 |
C |
A |
6: 59,187,166 (GRCm39) |
T11K |
probably damaging |
Het |
| Trappc9 |
A |
G |
15: 72,565,468 (GRCm39) |
V941A |
probably benign |
Het |
| Ugt2b37 |
A |
G |
5: 87,388,848 (GRCm39) |
M455T |
probably benign |
Het |
| Usp42 |
A |
T |
5: 143,712,400 (GRCm39) |
S95T |
probably damaging |
Het |
| Usp44 |
T |
C |
10: 93,686,049 (GRCm39) |
I488T |
possibly damaging |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,320 (GRCm39) |
I46T |
probably damaging |
Het |
| Vmn2r34 |
A |
T |
7: 7,675,540 (GRCm39) |
I616N |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,113,117 (GRCm39) |
K419R |
probably benign |
Het |
| Zfp595 |
T |
A |
13: 67,465,711 (GRCm39) |
H187L |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,822,161 (GRCm39) |
S301T |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,763,475 (GRCm39) |
V1374A |
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 |
|
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'- ATTGCCTGGCTAGACATGGTC -3'
(R):5'- ATCCAGATGGCGCAGACTAC -3'
Sequencing Primer
(F):5'- CCTGGCTAGACATGGTCAACGAG -3'
(R):5'- AGACTACGTGGGCCCAGTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation