Incidental Mutation 'R9720:Brpf3'
ID |
730756 |
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: 0.459)
|
Stock # |
R9720 (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 29026330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 468
(I468V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004985]
|
AlphaFold |
B2KF05 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004985
AA Change: I468V
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000004985 Gene: ENSMUSG00000063952 AA Change: I468V
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: 99.8%
- 20x: 99.3%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
G |
11: 84,154,183 (GRCm39) |
V968G |
probably damaging |
Het |
Adam33 |
A |
G |
2: 130,900,236 (GRCm39) |
V110A |
|
Het |
Adamts2 |
T |
C |
11: 50,666,954 (GRCm39) |
M417T |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,740,693 (GRCm39) |
I145T |
probably damaging |
Het |
Ampd3 |
C |
A |
7: 110,377,056 (GRCm39) |
H16N |
probably benign |
Het |
Ank3 |
A |
T |
10: 69,825,335 (GRCm39) |
S1335C |
|
Het |
Ankrd26 |
G |
A |
6: 118,498,902 (GRCm39) |
S1208L |
probably damaging |
Het |
Atmin |
G |
A |
8: 117,681,653 (GRCm39) |
|
probably null |
Het |
AU018091 |
T |
C |
7: 3,209,272 (GRCm39) |
T323A |
probably benign |
Het |
Barx2 |
A |
G |
9: 31,765,407 (GRCm39) |
|
probably null |
Het |
Bltp3b |
T |
A |
10: 89,641,219 (GRCm39) |
S797T |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,302,297 (GRCm39) |
H1985L |
probably benign |
Het |
Cass4 |
T |
C |
2: 172,269,568 (GRCm39) |
V550A |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,413,813 (GRCm39) |
S784G |
probably benign |
Het |
Cd300ld2 |
C |
T |
11: 114,903,118 (GRCm39) |
|
probably null |
Het |
Cgn |
G |
A |
3: 94,686,621 (GRCm39) |
A227V |
probably benign |
Het |
Clcn7 |
G |
T |
17: 25,374,471 (GRCm39) |
R524L |
probably damaging |
Het |
Cldn22 |
G |
A |
8: 48,277,786 (GRCm39) |
A75T |
probably benign |
Het |
Ddb1 |
A |
G |
19: 10,585,724 (GRCm39) |
D146G |
probably benign |
Het |
Dhx32 |
C |
A |
7: 133,324,857 (GRCm39) |
E607* |
probably null |
Het |
Egfem1 |
A |
G |
3: 29,716,580 (GRCm39) |
Y350C |
probably damaging |
Het |
Eri2 |
T |
A |
7: 119,386,976 (GRCm39) |
D181V |
probably damaging |
Het |
Gabrg2 |
T |
C |
11: 41,862,673 (GRCm39) |
N137S |
probably damaging |
Het |
Gar1 |
C |
T |
3: 129,620,497 (GRCm39) |
G197S |
unknown |
Het |
Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
Hap1 |
T |
A |
11: 100,246,696 (GRCm39) |
I70F |
probably benign |
Het |
Hars2 |
A |
G |
18: 36,920,607 (GRCm39) |
Y150C |
probably damaging |
Het |
Igsf9b |
G |
A |
9: 27,220,810 (GRCm39) |
V59I |
probably damaging |
Het |
Il15 |
T |
G |
8: 83,058,608 (GRCm39) |
K142Q |
probably damaging |
Het |
Klhl23 |
T |
C |
2: 69,654,804 (GRCm39) |
Y225H |
possibly damaging |
Het |
Krt6b |
T |
A |
15: 101,588,226 (GRCm39) |
I145F |
probably benign |
Het |
Lgals3bp |
T |
A |
11: 118,284,083 (GRCm39) |
T499S |
probably benign |
Het |
Lrriq4 |
A |
G |
3: 30,714,077 (GRCm39) |
N490S |
probably damaging |
Het |
Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
Mical3 |
A |
G |
6: 120,935,238 (GRCm39) |
S1763P |
probably damaging |
Het |
Ncoa6 |
A |
G |
2: 155,250,304 (GRCm39) |
V1000A |
probably damaging |
Het |
Nefm |
A |
G |
14: 68,358,793 (GRCm39) |
S414P |
probably benign |
Het |
Nphs1 |
T |
C |
7: 30,165,499 (GRCm39) |
V622A |
possibly damaging |
Het |
Or6c76 |
T |
C |
10: 129,612,581 (GRCm39) |
V281A |
probably benign |
Het |
Or6d14 |
T |
C |
6: 116,534,016 (GRCm39) |
V210A |
possibly damaging |
Het |
Pde4dip |
T |
C |
3: 97,603,287 (GRCm39) |
D2234G |
probably damaging |
Het |
Pde6c |
A |
T |
19: 38,157,887 (GRCm39) |
Y637F |
probably benign |
Het |
Pigg |
T |
A |
5: 108,467,800 (GRCm39) |
C266* |
probably null |
Het |
Pkdrej |
A |
T |
15: 85,702,497 (GRCm39) |
D1146E |
possibly damaging |
Het |
Pkp2 |
T |
C |
16: 16,087,584 (GRCm39) |
V756A |
probably benign |
Het |
Pole |
C |
T |
5: 110,484,909 (GRCm39) |
T2245I |
probably benign |
Het |
Ppm1g |
A |
C |
5: 31,360,914 (GRCm39) |
|
probably null |
Het |
Ppp1r36 |
A |
G |
12: 76,485,298 (GRCm39) |
I340M |
possibly damaging |
Het |
Pvr |
G |
A |
7: 19,643,121 (GRCm39) |
R371* |
probably null |
Het |
Rassf9 |
G |
A |
10: 102,348,369 (GRCm39) |
|
probably benign |
Het |
Rtl1 |
A |
C |
12: 109,559,882 (GRCm39) |
N652K |
possibly damaging |
Het |
Sall4 |
G |
C |
2: 168,592,160 (GRCm39) |
S998C |
probably damaging |
Het |
Sdk1 |
T |
C |
5: 142,197,796 (GRCm39) |
Y2150H |
probably damaging |
Het |
Serpinb3b |
A |
T |
1: 107,083,669 (GRCm39) |
I170K |
probably benign |
Het |
Shank2 |
A |
T |
7: 143,682,137 (GRCm39) |
D390V |
probably damaging |
Het |
Slc39a4 |
A |
G |
15: 76,500,930 (GRCm39) |
V11A |
probably benign |
Het |
Synj2 |
C |
T |
17: 6,040,584 (GRCm39) |
T220I |
probably benign |
Het |
Taar7a |
A |
G |
10: 23,868,733 (GRCm39) |
I216T |
probably benign |
Het |
Tas2r122 |
G |
T |
6: 132,688,634 (GRCm39) |
D86E |
probably benign |
Het |
Tbxa2r |
T |
A |
10: 81,169,018 (GRCm39) |
C236S |
probably benign |
Het |
Trav13d-4 |
C |
A |
14: 53,995,286 (GRCm39) |
T80K |
probably benign |
Het |
Trav6d-5 |
T |
A |
14: 53,033,077 (GRCm39) |
C109S |
probably damaging |
Het |
Trio |
A |
G |
15: 27,847,495 (GRCm39) |
M982T |
probably benign |
Het |
Unc80 |
A |
T |
1: 66,683,485 (GRCm39) |
T2176S |
possibly damaging |
Het |
Ypel1 |
T |
C |
16: 16,910,890 (GRCm39) |
T259A |
probably damaging |
Het |
Zfp120 |
A |
T |
2: 149,959,197 (GRCm39) |
I397K |
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 |
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 |
|
Z1177:Brpf3
|
UTSW |
17 |
29,040,452 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGGAGCCTCAGTGAAGTCG -3'
(R):5'- ACACATTACTCTGAAGGCAGG -3'
Sequencing Primer
(F):5'- CCTCAGTGAAGTCGGGGATG -3'
(R):5'- TCTGAAGGCAGGGACAAAACC -3'
|
Posted On |
2022-10-06 |