Incidental Mutation 'R6181:Brpf3'
ID |
488116 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Brpf3
|
Ensembl Gene |
ENSMUSG00000063952 |
Gene Name |
bromodomain and PHD finger containing, 3 |
Synonyms |
|
MMRRC Submission |
044323-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.424)
|
Stock # |
R6181 (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 29029555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 505
(Y505C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004985
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004985]
|
AlphaFold |
B2KF05 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004985
AA Change: Y505C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000004985 Gene: ENSMUSG00000063952 AA Change: Y505C
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: ENSMUST00000123942
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136233
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156029
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1b7 |
A |
G |
6: 34,392,313 (GRCm39) |
H42R |
possibly damaging |
Het |
Ankrd26 |
T |
A |
6: 118,525,838 (GRCm39) |
H369L |
probably benign |
Het |
Ano7 |
T |
C |
1: 93,323,081 (GRCm39) |
S474P |
probably damaging |
Het |
Aox3 |
T |
C |
1: 58,198,105 (GRCm39) |
V639A |
probably benign |
Het |
Arhgef2 |
T |
A |
3: 88,542,927 (GRCm39) |
V358E |
probably damaging |
Het |
Casd1 |
A |
G |
6: 4,619,331 (GRCm39) |
T120A |
probably damaging |
Het |
Ccdc121 |
A |
G |
5: 31,645,399 (GRCm39) |
E384G |
probably damaging |
Het |
Cd200l1 |
A |
G |
16: 45,238,260 (GRCm39) |
S185P |
probably benign |
Het |
Clasp1 |
T |
G |
1: 118,347,547 (GRCm39) |
S32A |
probably benign |
Het |
Clca3a2 |
A |
T |
3: 144,796,469 (GRCm39) |
L246* |
probably null |
Het |
Clcn7 |
A |
G |
17: 25,370,702 (GRCm39) |
I353V |
possibly damaging |
Het |
Cluap1 |
T |
A |
16: 3,751,608 (GRCm39) |
D322E |
probably benign |
Het |
Cmtm4 |
A |
C |
8: 105,082,997 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
C |
T |
6: 46,736,742 (GRCm39) |
P723S |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,744,096 (GRCm39) |
T84S |
possibly damaging |
Het |
Corin |
A |
G |
5: 72,529,439 (GRCm39) |
|
probably null |
Het |
Cubn |
G |
A |
2: 13,354,687 (GRCm39) |
T1903I |
probably benign |
Het |
Cyp27b1 |
A |
C |
10: 126,886,279 (GRCm39) |
D320A |
probably damaging |
Het |
Cyp2j6 |
G |
C |
4: 96,424,323 (GRCm39) |
L145V |
probably damaging |
Het |
Dennd2a |
T |
C |
6: 39,462,554 (GRCm39) |
K652R |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dock1 |
T |
A |
7: 134,760,251 (GRCm39) |
M1638K |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,722,159 (GRCm39) |
S1924P |
probably benign |
Het |
Eya1 |
T |
C |
1: 14,373,096 (GRCm39) |
S8G |
probably damaging |
Het |
Fam193a |
T |
A |
5: 34,600,884 (GRCm39) |
|
probably null |
Het |
Fbxw11 |
T |
A |
11: 32,692,575 (GRCm39) |
N515K |
probably benign |
Het |
Gm6408 |
T |
C |
5: 146,420,582 (GRCm39) |
V154A |
possibly damaging |
Het |
Guf1 |
A |
G |
5: 69,719,059 (GRCm39) |
Y235C |
probably damaging |
Het |
Hnrnpul2 |
C |
T |
19: 8,800,596 (GRCm39) |
S224L |
possibly damaging |
Het |
Igkv8-19 |
T |
A |
6: 70,317,968 (GRCm39) |
D86V |
probably damaging |
Het |
Iqcf1 |
A |
T |
9: 106,379,174 (GRCm39) |
D61V |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,678,427 (GRCm39) |
D476G |
probably damaging |
Het |
Luzp1 |
A |
G |
4: 136,270,578 (GRCm39) |
T934A |
probably benign |
Het |
Mboat7 |
A |
T |
7: 3,686,884 (GRCm39) |
Y319N |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,715,953 (GRCm39) |
E2045G |
probably damaging |
Het |
Mfsd14b |
T |
C |
13: 65,260,398 (GRCm39) |
R12G |
probably benign |
Het |
Micall2 |
T |
A |
5: 139,702,506 (GRCm39) |
T246S |
probably benign |
Het |
Npepps |
A |
G |
11: 97,132,830 (GRCm39) |
V299A |
probably damaging |
Het |
Or2y11 |
T |
A |
11: 49,443,120 (GRCm39) |
V182D |
probably damaging |
Het |
P2ry13 |
A |
G |
3: 59,117,328 (GRCm39) |
V150A |
probably benign |
Het |
Pdc |
T |
C |
1: 150,209,021 (GRCm39) |
I168T |
probably damaging |
Het |
Pde8b |
C |
T |
13: 95,223,316 (GRCm39) |
E313K |
probably benign |
Het |
Pgap1 |
C |
T |
1: 54,551,936 (GRCm39) |
G499R |
probably benign |
Het |
Ppp1r15b |
T |
A |
1: 133,060,261 (GRCm39) |
C259* |
probably null |
Het |
Pramel21 |
T |
A |
4: 143,342,828 (GRCm39) |
|
probably null |
Het |
Ptgs1 |
A |
G |
2: 36,141,131 (GRCm39) |
E526G |
probably damaging |
Het |
Ptpn21 |
A |
G |
12: 98,666,258 (GRCm39) |
L271P |
probably damaging |
Het |
Rbm47 |
T |
C |
5: 66,183,833 (GRCm39) |
T257A |
possibly damaging |
Het |
Rfc3 |
C |
T |
5: 151,570,985 (GRCm39) |
D104N |
probably damaging |
Het |
Rhobtb3 |
A |
G |
13: 76,058,808 (GRCm39) |
I330T |
probably benign |
Het |
Rnf207 |
T |
C |
4: 152,393,305 (GRCm39) |
T570A |
probably benign |
Het |
Rusf1 |
A |
G |
7: 127,896,632 (GRCm39) |
|
probably null |
Het |
Sbpl |
T |
C |
17: 24,172,466 (GRCm39) |
H151R |
probably damaging |
Het |
Sstr3 |
T |
C |
15: 78,423,661 (GRCm39) |
D362G |
probably benign |
Het |
St7 |
T |
C |
6: 17,694,363 (GRCm39) |
|
probably null |
Het |
Tasor |
T |
A |
14: 27,194,235 (GRCm39) |
M1145K |
probably benign |
Het |
Tdrd6 |
A |
G |
17: 43,939,788 (GRCm39) |
V420A |
probably damaging |
Het |
Tet2 |
C |
A |
3: 133,193,520 (GRCm39) |
E305* |
probably null |
Het |
Tmem209 |
A |
T |
6: 30,505,970 (GRCm39) |
V68E |
probably damaging |
Het |
Tmod4 |
A |
T |
3: 95,035,118 (GRCm39) |
I208F |
probably damaging |
Het |
Tpo |
G |
A |
12: 30,181,884 (GRCm39) |
L4F |
probably benign |
Het |
Urb1 |
T |
C |
16: 90,575,982 (GRCm39) |
H858R |
probably benign |
Het |
Utrn |
A |
G |
10: 12,615,200 (GRCm39) |
W324R |
probably damaging |
Het |
V1rd19 |
T |
A |
7: 23,702,640 (GRCm39) |
F35L |
possibly damaging |
Het |
Vmn1r170 |
C |
A |
7: 23,305,692 (GRCm39) |
N31K |
probably damaging |
Het |
Vmn1r192 |
T |
A |
13: 22,371,452 (GRCm39) |
Y256F |
probably damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,294,019 (GRCm39) |
I702T |
possibly damaging |
Het |
Vmn2r96 |
G |
A |
17: 18,804,126 (GRCm39) |
A459T |
probably benign |
Het |
Vwf |
G |
T |
6: 125,543,109 (GRCm39) |
A132S |
probably damaging |
Het |
Zfp202 |
G |
A |
9: 40,118,638 (GRCm39) |
G17E |
probably damaging |
Het |
Zfp608 |
A |
G |
18: 55,028,700 (GRCm39) |
S1238P |
possibly damaging |
Het |
Zfp804a |
G |
T |
2: 82,087,486 (GRCm39) |
M438I |
probably damaging |
Het |
Zgrf1 |
G |
A |
3: 127,381,590 (GRCm39) |
G246S |
probably damaging |
Het |
Zwint |
T |
C |
10: 72,492,431 (GRCm39) |
V115A |
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 |
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'- CCCCAAGCTGAGACATTTGG -3'
(R):5'- ATTGGCAAAGGCTTCCTGGG -3'
Sequencing Primer
(F):5'- TTCCTCTGTAAGGTTGAGAAATGAAC -3'
(R):5'- AAAGGCTTCCTGGGAGGCG -3'
|
Posted On |
2017-10-10 |