Incidental Mutation 'R6976:Brpf3'
ID |
542480 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brpf3
|
Ensembl Gene |
ENSMUSG00000063952 |
Gene Name |
bromodomain and PHD finger containing, 3 |
Synonyms |
|
MMRRC Submission |
045382-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.459)
|
Stock # |
R6976 (G1)
|
Quality Score |
208.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
29020088-29057763 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29054751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 1098
(M1098V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004985]
|
AlphaFold |
B2KF05 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004985
AA Change: M1098V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000004985 Gene: ENSMUSG00000063952 AA Change: M1098V
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: ENSMUST00000127007
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140587
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140973
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156029
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (50/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
T |
A |
2: 155,397,929 (GRCm39) |
|
probably null |
Het |
Adamts4 |
G |
T |
1: 171,079,877 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
T |
A |
13: 81,669,116 (GRCm39) |
K2480M |
probably damaging |
Het |
Ankhd1 |
A |
C |
18: 36,781,307 (GRCm39) |
S2120R |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,888,964 (GRCm39) |
V281E |
possibly damaging |
Het |
Bdh1 |
G |
A |
16: 31,256,847 (GRCm39) |
A35T |
probably benign |
Het |
Cel |
G |
A |
2: 28,446,854 (GRCm39) |
S439F |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,162,378 (GRCm39) |
S64G |
probably benign |
Het |
Dpp7 |
T |
C |
2: 25,244,836 (GRCm39) |
|
probably null |
Het |
Fam83c |
T |
A |
2: 155,672,157 (GRCm39) |
Y426F |
possibly damaging |
Het |
Fasn |
A |
G |
11: 120,710,693 (GRCm39) |
I322T |
probably damaging |
Het |
Glod4 |
A |
G |
11: 76,134,406 (GRCm39) |
F22S |
probably damaging |
Het |
Gm3127 |
A |
G |
14: 15,432,190 (GRCm39) |
T231A |
possibly damaging |
Het |
Gm49383 |
A |
G |
12: 69,243,730 (GRCm39) |
S444P |
possibly damaging |
Het |
Gnaz |
T |
C |
10: 74,827,268 (GRCm39) |
S7P |
possibly damaging |
Het |
Grin2b |
C |
T |
6: 135,757,198 (GRCm39) |
S421N |
probably benign |
Het |
Grm1 |
T |
C |
10: 10,564,924 (GRCm39) |
D1128G |
probably benign |
Het |
Hoxb13 |
A |
G |
11: 96,087,044 (GRCm39) |
T284A |
probably benign |
Het |
Il9r |
G |
A |
11: 32,143,177 (GRCm39) |
Q260* |
probably null |
Het |
Lrrfip1 |
T |
A |
1: 91,042,737 (GRCm39) |
C381S |
probably benign |
Het |
Mitd1 |
A |
T |
1: 37,921,778 (GRCm39) |
D85E |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,582,892 (GRCm39) |
D2556N |
possibly damaging |
Het |
Nlrc4 |
A |
G |
17: 74,752,934 (GRCm39) |
I483T |
probably damaging |
Het |
Or13e8 |
A |
G |
4: 43,697,170 (GRCm39) |
M1T |
probably null |
Het |
Or2ag17 |
A |
T |
7: 106,389,434 (GRCm39) |
M258K |
probably damaging |
Het |
Or8g4 |
A |
G |
9: 39,662,540 (GRCm39) |
N286S |
probably damaging |
Het |
Pcdhb7 |
C |
A |
18: 37,476,631 (GRCm39) |
A589E |
probably benign |
Het |
Pcdhgb5 |
G |
A |
18: 37,864,321 (GRCm39) |
E39K |
probably damaging |
Het |
Pja2 |
T |
C |
17: 64,615,954 (GRCm39) |
K314E |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,104,159 (GRCm39) |
E276G |
possibly damaging |
Het |
Ppp2r5c |
A |
G |
12: 110,510,579 (GRCm39) |
E122G |
probably damaging |
Het |
Prrc2c |
A |
T |
1: 162,520,413 (GRCm39) |
N732K |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,333,126 (GRCm39) |
D1348E |
probably benign |
Het |
Sh3rf1 |
G |
T |
8: 61,814,766 (GRCm39) |
E442* |
probably null |
Het |
Snapc1 |
A |
G |
12: 74,016,974 (GRCm39) |
D204G |
probably damaging |
Het |
Sry |
C |
T |
Y: 2,662,938 (GRCm39) |
D241N |
unknown |
Het |
Strn4 |
T |
A |
7: 16,564,279 (GRCm39) |
M303K |
probably benign |
Het |
Tas2r118 |
A |
G |
6: 23,969,470 (GRCm39) |
I197T |
probably benign |
Het |
Tnni3k |
A |
G |
3: 154,498,413 (GRCm39) |
Y809H |
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,572,594 (GRCm39) |
C419* |
probably null |
Het |
Trpm6 |
T |
C |
19: 18,760,527 (GRCm39) |
S143P |
probably benign |
Het |
Ttc23l |
A |
T |
15: 10,537,666 (GRCm39) |
C201* |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,120,388 (GRCm39) |
N271S |
probably damaging |
Het |
Vmn1r70 |
T |
C |
7: 10,367,971 (GRCm39) |
M134T |
probably benign |
Het |
Vmn2r27 |
C |
T |
6: 124,201,312 (GRCm39) |
W215* |
probably null |
Het |
Xirp1 |
A |
T |
9: 119,846,984 (GRCm39) |
M633K |
probably damaging |
Het |
Zfp174 |
T |
C |
16: 3,665,804 (GRCm39) |
I23T |
possibly damaging |
Het |
Zfp536 |
T |
A |
7: 37,179,828 (GRCm39) |
S926C |
probably damaging |
Het |
Zfp943 |
T |
C |
17: 22,209,922 (GRCm39) |
S65P |
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 |
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'- AAGGATTGATTGCACAAGGCTG -3'
(R):5'- TCTTTAGGGGCAGCCACAAG -3'
Sequencing Primer
(F):5'- TTGCACAAGGCTGGGAGG -3'
(R):5'- TGACCCTGCACCTTGGC -3'
|
Posted On |
2018-11-28 |