Incidental Mutation 'R4067:Brpf3'
| ID |
316190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brpf3
|
| Ensembl Gene |
ENSMUSG00000063952 |
| Gene Name |
bromodomain and PHD finger containing, 3 |
| Synonyms |
|
| MMRRC Submission |
040853-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.424)
|
| Stock # |
R4067 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
29020088-29057763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29040233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 885
(S885P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004985]
|
| AlphaFold |
B2KF05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004985
AA Change: S885P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000004985
Gene: ENSMUSG00000063952
AA Change: S885P
| 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: ENSMUST00000140587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156029
|
| Meta Mutation Damage Score |
0.0705 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
98% (61/62) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
T |
A |
1: 151,769,150 (GRCm39) |
T121S |
possibly damaging |
Het |
| 4930503E14Rik |
T |
C |
14: 44,406,641 (GRCm39) |
E136G |
probably damaging |
Het |
| Adgrg4 |
A |
G |
X: 56,005,320 (GRCm39) |
N2527S |
probably damaging |
Het |
| Ak1 |
G |
A |
2: 32,519,593 (GRCm39) |
S7N |
probably benign |
Het |
| Aktip |
A |
C |
8: 91,852,466 (GRCm39) |
I230R |
possibly damaging |
Het |
| Alms1 |
A |
G |
6: 85,598,271 (GRCm39) |
I1032M |
probably damaging |
Het |
| Asb4 |
T |
A |
6: 5,423,651 (GRCm39) |
V266E |
probably damaging |
Het |
| Bace1 |
G |
A |
9: 45,765,962 (GRCm39) |
V130M |
probably damaging |
Het |
| Bglap |
A |
T |
3: 88,291,744 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,750,202 (GRCm39) |
I1742F |
possibly damaging |
Het |
| Col9a2 |
T |
A |
4: 120,909,586 (GRCm39) |
I415N |
probably damaging |
Het |
| Cybc1 |
A |
T |
11: 121,115,528 (GRCm39) |
|
probably null |
Het |
| Dnajc7 |
T |
C |
11: 100,492,607 (GRCm39) |
Y38C |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,922,820 (GRCm39) |
L309P |
probably benign |
Het |
| Enam |
A |
G |
5: 88,651,236 (GRCm39) |
Y840C |
probably damaging |
Het |
| Etnppl |
T |
A |
3: 130,425,442 (GRCm39) |
C416S |
probably damaging |
Het |
| Fgf20 |
A |
T |
8: 40,732,896 (GRCm39) |
S181T |
probably benign |
Het |
| Fut8 |
T |
A |
12: 77,510,835 (GRCm39) |
Y421N |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,737,147 (GRCm39) |
L1295R |
probably damaging |
Het |
| Gm11437 |
A |
G |
11: 84,055,337 (GRCm39) |
V93A |
probably benign |
Het |
| Gm9989 |
T |
C |
3: 81,829,549 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdmc4 |
A |
T |
15: 63,765,736 (GRCm39) |
|
probably null |
Het |
| Gvin3 |
T |
A |
7: 106,198,772 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv10-1 |
A |
T |
12: 114,442,643 (GRCm39) |
M114K |
probably benign |
Het |
| Il22b |
T |
C |
10: 118,126,115 (GRCm39) |
I161V |
probably damaging |
Het |
| Itfg2 |
T |
A |
6: 128,387,413 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
G |
A |
3: 86,995,774 (GRCm39) |
Q387* |
probably null |
Het |
| Klk1 |
C |
T |
7: 43,876,968 (GRCm39) |
R24* |
probably null |
Het |
| Klra7 |
T |
C |
6: 130,208,612 (GRCm39) |
|
probably null |
Het |
| Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mrps2 |
A |
G |
2: 28,359,782 (GRCm39) |
N213S |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,167,185 (GRCm39) |
Y102F |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,431 (GRCm39) |
C110* |
probably null |
Het |
| Otof |
C |
T |
5: 30,556,635 (GRCm39) |
G282D |
probably damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,430,367 (GRCm39) |
|
probably null |
Het |
| Pign |
A |
T |
1: 105,515,703 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
G |
A |
1: 133,222,416 (GRCm39) |
E1001K |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Ppm1d |
A |
G |
11: 85,236,678 (GRCm39) |
T486A |
probably benign |
Het |
| Pudp |
A |
G |
18: 50,701,329 (GRCm39) |
F135L |
probably benign |
Het |
| Rd3l |
T |
G |
12: 111,945,945 (GRCm39) |
N178T |
probably benign |
Het |
| Rel |
A |
C |
11: 23,703,215 (GRCm39) |
|
probably null |
Het |
| Sf3a1 |
T |
A |
11: 4,117,824 (GRCm39) |
F195L |
probably damaging |
Het |
| Slc30a1 |
G |
C |
1: 191,639,401 (GRCm39) |
A95P |
probably damaging |
Het |
| Slc47a2 |
T |
C |
11: 61,194,773 (GRCm39) |
T469A |
probably benign |
Het |
| Slc4a10 |
A |
T |
2: 61,876,989 (GRCm39) |
M1L |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,955,703 (GRCm39) |
D445V |
probably damaging |
Het |
| Slc9a7 |
C |
T |
X: 20,071,793 (GRCm39) |
G113R |
probably damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,712 (GRCm39) |
D440V |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,511,545 (GRCm39) |
H237R |
possibly damaging |
Het |
| Stk26 |
A |
G |
X: 49,977,910 (GRCm39) |
E317G |
probably benign |
Het |
| Tex10 |
A |
T |
4: 48,459,355 (GRCm39) |
Y506* |
probably null |
Het |
| Trhde |
T |
A |
10: 114,280,585 (GRCm39) |
R848* |
probably null |
Het |
| Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
| Usp24 |
C |
T |
4: 106,216,286 (GRCm39) |
T379M |
possibly damaging |
Het |
| Zfp783 |
A |
T |
6: 47,922,499 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
|
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'- TGACTGGTAGGAGCAGACTG -3'
(R):5'- GGACCCCTCTGTAGCTTAAC -3'
Sequencing Primer
(F):5'- CTAGAATGTTCAAGCAGGTTCTC -3'
(R):5'- ACTCCATTCTTGGCCTTCTTGAAGAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation