Incidental Mutation 'R6920:Brpf3'
ID |
539611 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brpf3
|
Ensembl Gene |
ENSMUSG00000063952 |
Gene Name |
bromodomain and PHD finger containing, 3 |
Synonyms |
|
MMRRC Submission |
045040-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.459)
|
Stock # |
R6920 (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 A
at 29042970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 1004
(H1004N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004985]
|
AlphaFold |
B2KF05 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004985
AA Change: H1004N
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000004985 Gene: ENSMUSG00000063952 AA Change: H1004N
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: 99.1%
- 20x: 97.2%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
T |
3: 137,773,811 (GRCm39) |
Y1000F |
probably damaging |
Het |
1700018B08Rik |
A |
G |
8: 122,262,160 (GRCm39) |
|
probably null |
Het |
Aadat |
T |
C |
8: 60,982,467 (GRCm39) |
F245L |
probably damaging |
Het |
Adcy10 |
T |
G |
1: 165,403,227 (GRCm39) |
L1575W |
probably damaging |
Het |
Anks4b |
A |
T |
7: 119,782,231 (GRCm39) |
T421S |
probably damaging |
Het |
Anpep |
A |
T |
7: 79,475,097 (GRCm39) |
I155N |
probably damaging |
Het |
Arnt |
T |
C |
3: 95,397,932 (GRCm39) |
F572L |
probably damaging |
Het |
Brip1 |
G |
A |
11: 86,039,362 (GRCm39) |
Q391* |
probably null |
Het |
Cand2 |
T |
A |
6: 115,768,250 (GRCm39) |
V465D |
possibly damaging |
Het |
Card10 |
G |
T |
15: 78,686,609 (GRCm39) |
Y69* |
probably null |
Het |
Catsperd |
A |
T |
17: 56,962,175 (GRCm39) |
K450* |
probably null |
Het |
Ccdc137 |
T |
C |
11: 120,351,009 (GRCm39) |
L137P |
probably damaging |
Het |
Cic |
T |
C |
7: 24,990,107 (GRCm39) |
S1905P |
probably damaging |
Het |
Csmd3 |
C |
T |
15: 47,507,601 (GRCm39) |
G2971S |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,379,496 (GRCm39) |
Y183H |
probably damaging |
Het |
Drosha |
T |
C |
15: 12,834,396 (GRCm39) |
Y167H |
unknown |
Het |
E330034G19Rik |
A |
G |
14: 24,358,310 (GRCm39) |
K214R |
unknown |
Het |
Fam180a |
T |
G |
6: 35,290,765 (GRCm39) |
I73L |
possibly damaging |
Het |
Fbxo28 |
G |
T |
1: 182,168,986 (GRCm39) |
H51N |
probably benign |
Het |
Gm12728 |
T |
G |
4: 105,647,533 (GRCm39) |
|
probably null |
Het |
Gm973 |
T |
C |
1: 59,591,620 (GRCm39) |
C335R |
possibly damaging |
Het |
Gpx8 |
A |
G |
13: 113,179,770 (GRCm39) |
V177A |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,340,083 (GRCm39) |
|
probably null |
Het |
Htt |
T |
G |
5: 35,034,444 (GRCm39) |
Y1972D |
probably null |
Het |
Igkv6-14 |
T |
C |
6: 70,412,116 (GRCm39) |
Y56C |
possibly damaging |
Het |
Kcnma1 |
A |
G |
14: 23,576,602 (GRCm39) |
|
probably null |
Het |
Klc1 |
T |
C |
12: 111,754,019 (GRCm39) |
S105P |
probably damaging |
Het |
Klhl20 |
T |
C |
1: 160,921,266 (GRCm39) |
D63G |
possibly damaging |
Het |
Lamc3 |
A |
G |
2: 31,798,701 (GRCm39) |
D469G |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Mboat4 |
G |
A |
8: 34,591,865 (GRCm39) |
R434H |
probably benign |
Het |
Mttp |
T |
C |
3: 137,821,043 (GRCm39) |
K270E |
possibly damaging |
Het |
Muc5ac |
G |
A |
7: 141,347,035 (GRCm39) |
C337Y |
possibly damaging |
Het |
Nars1 |
A |
G |
18: 64,634,471 (GRCm39) |
V484A |
probably damaging |
Het |
Noxa1 |
G |
T |
2: 24,981,844 (GRCm39) |
|
probably null |
Het |
Or14c45 |
A |
G |
7: 86,176,522 (GRCm39) |
T186A |
probably benign |
Het |
Or7g18 |
T |
A |
9: 18,786,821 (GRCm39) |
L63H |
probably damaging |
Het |
Osbpl7 |
G |
A |
11: 96,941,584 (GRCm39) |
G36S |
probably damaging |
Het |
P4htm |
C |
T |
9: 108,460,812 (GRCm39) |
G220D |
probably benign |
Het |
Pcdhga7 |
A |
G |
18: 37,848,199 (GRCm39) |
I69V |
probably benign |
Het |
Pla2g4e |
C |
T |
2: 120,015,795 (GRCm39) |
E250K |
possibly damaging |
Het |
Plcd4 |
A |
G |
1: 74,604,994 (GRCm39) |
|
probably benign |
Het |
Ppfia3 |
C |
A |
7: 45,008,231 (GRCm39) |
G213V |
possibly damaging |
Het |
Ppp1r1a |
A |
G |
15: 103,441,513 (GRCm39) |
S67P |
probably damaging |
Het |
Prss43 |
T |
C |
9: 110,657,680 (GRCm39) |
F193S |
probably benign |
Het |
Rfx1 |
A |
G |
8: 84,822,117 (GRCm39) |
Y872C |
probably damaging |
Het |
Rhot1 |
T |
A |
11: 80,132,921 (GRCm39) |
N218K |
probably benign |
Het |
Sall1 |
A |
G |
8: 89,757,021 (GRCm39) |
F1028L |
probably damaging |
Het |
Siglec1 |
G |
A |
2: 130,919,997 (GRCm39) |
Q845* |
probably null |
Het |
Slc38a9 |
C |
T |
13: 112,838,060 (GRCm39) |
T275I |
possibly damaging |
Het |
Slc39a4 |
A |
T |
15: 76,497,470 (GRCm39) |
S481T |
probably damaging |
Het |
Ssr1 |
A |
T |
13: 38,169,998 (GRCm39) |
N191K |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,544,757 (GRCm39) |
S2258C |
probably damaging |
Het |
Tm7sf3 |
T |
G |
6: 146,507,645 (GRCm39) |
R472S |
possibly damaging |
Het |
Tmprss11a |
G |
A |
5: 86,576,494 (GRCm39) |
T119M |
probably benign |
Het |
Traip |
C |
T |
9: 107,838,240 (GRCm39) |
R142* |
probably null |
Het |
Utrn |
T |
C |
10: 12,626,214 (GRCm39) |
N100D |
probably damaging |
Het |
Vmn1r74 |
T |
C |
7: 11,581,575 (GRCm39) |
S292P |
probably benign |
Het |
Vmn2r71 |
A |
T |
7: 85,273,108 (GRCm39) |
I641F |
probably damaging |
Het |
Vmn2r9 |
T |
A |
5: 108,996,912 (GRCm39) |
Y119F |
possibly damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,285,510 (GRCm39) |
N110S |
probably damaging |
Het |
Vwce |
A |
G |
19: 10,642,057 (GRCm39) |
T928A |
probably benign |
Het |
Zfp608 |
T |
A |
18: 55,121,337 (GRCm39) |
K83N |
probably damaging |
Het |
Zfp808 |
A |
G |
13: 62,320,982 (GRCm39) |
H737R |
probably benign |
Het |
Zswim4 |
T |
C |
8: 84,940,714 (GRCm39) |
N795S |
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 |
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'- GTCTCTGTGAGAGTCCTTCTGC -3'
(R):5'- GATCTGAGAAATCAAGGGCCAATC -3'
Sequencing Primer
(F):5'- GAGAGTCCTTCTGCCACCTGTG -3'
(R):5'- AATCCCTTTCCCTCGGGG -3'
|
Posted On |
2018-11-06 |