Incidental Mutation 'R9518:Brpf1'
| ID |
718707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brpf1
|
| Ensembl Gene |
ENSMUSG00000001632 |
| Gene Name |
bromodomain and PHD finger containing, 1 |
| Synonyms |
4833438B11Rik, 4930540D11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R9518 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113284098-113301821 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113286795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 8
(K8E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041203]
[ENSMUST00000113117]
[ENSMUST00000113119]
[ENSMUST00000113121]
[ENSMUST00000113122]
[ENSMUST00000203577]
[ENSMUST00000204198]
[ENSMUST00000204626]
|
| AlphaFold |
B2RRD7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041203
|
| SMART Domains |
Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
14 |
122 |
2.12e-10 |
SMART |
|
C2
|
143 |
257 |
5.15e-9 |
SMART |
|
VWA
|
297 |
495 |
4.4e-10 |
SMART |
|
low complexity region
|
536 |
553 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113117
AA Change: K8E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108742
Gene: ENSMUSG00000001632
AA Change: K8E
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
2.63e0 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
105 |
254 |
1e-35 |
PFAM |
|
PHD
|
274 |
320 |
7.63e-10 |
SMART |
|
PHD
|
384 |
447 |
1.05e-7 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
733 |
1.58e-37 |
SMART |
|
low complexity region
|
762 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
869 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
940 |
964 |
N/A |
INTRINSIC |
|
low complexity region
|
993 |
1019 |
N/A |
INTRINSIC |
|
low complexity region
|
1078 |
1090 |
N/A |
INTRINSIC |
|
PWWP
|
1115 |
1198 |
4.1e-42 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113119
AA Change: K8E
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108744
Gene: ENSMUSG00000001632
AA Change: K8E
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
2.63e0 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
106 |
254 |
8.5e-39 |
PFAM |
|
PHD
|
274 |
320 |
7.63e-10 |
SMART |
|
PHD
|
384 |
447 |
1.05e-7 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
733 |
1.58e-37 |
SMART |
|
low complexity region
|
856 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
912 |
N/A |
INTRINSIC |
|
low complexity region
|
941 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
994 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1079 |
1091 |
N/A |
INTRINSIC |
|
PWWP
|
1116 |
1199 |
4.1e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113121
AA Change: K8E
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000108746
Gene: ENSMUSG00000001632
AA Change: K8E
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
2.63e0 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
105 |
254 |
5.5e-36 |
PFAM |
|
PHD
|
274 |
320 |
7.63e-10 |
SMART |
|
PHD
|
384 |
447 |
1.05e-7 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
733 |
1.58e-37 |
SMART |
|
low complexity region
|
856 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
912 |
N/A |
INTRINSIC |
|
low complexity region
|
941 |
965 |
N/A |
INTRINSIC |
|
low complexity region
|
994 |
1020 |
N/A |
INTRINSIC |
|
PWWP
|
1082 |
1165 |
4.1e-42 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113122
AA Change: K8E
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108747
Gene: ENSMUSG00000001632
AA Change: K8E
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
2.63e0 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
105 |
254 |
5.5e-36 |
PFAM |
|
PHD
|
274 |
320 |
7.63e-10 |
SMART |
|
PHD
|
384 |
447 |
1.05e-7 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
733 |
1.58e-37 |
SMART |
|
low complexity region
|
762 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
855 |
869 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
940 |
964 |
N/A |
INTRINSIC |
|
low complexity region
|
993 |
1019 |
N/A |
INTRINSIC |
|
PWWP
|
1081 |
1164 |
4.1e-42 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203577
AA Change: K8E
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144820
Gene: ENSMUSG00000001632
AA Change: K8E
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
1.2e-2 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
106 |
254 |
5.1e-36 |
PFAM |
|
PHD
|
274 |
320 |
4.9e-12 |
SMART |
|
PHD
|
384 |
447 |
6.8e-10 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
739 |
1.3e-34 |
SMART |
|
low complexity region
|
768 |
779 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
946 |
970 |
N/A |
INTRINSIC |
|
low complexity region
|
999 |
1025 |
N/A |
INTRINSIC |
|
low complexity region
|
1084 |
1096 |
N/A |
INTRINSIC |
|
PWWP
|
1121 |
1204 |
2.6e-44 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204198
AA Change: K8E
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144804
Gene: ENSMUSG00000001632
AA Change: K8E
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
1.2e-2 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
106 |
254 |
4.4e-36 |
PFAM |
|
PHD
|
274 |
320 |
4.9e-12 |
SMART |
|
PHD
|
384 |
447 |
6.8e-10 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
733 |
1e-39 |
SMART |
|
low complexity region
|
856 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
925 |
N/A |
INTRINSIC |
|
PWWP
|
987 |
1070 |
2.6e-44 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204626
AA Change: K8E
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000145093
Gene: ENSMUSG00000001632
AA Change: K8E
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
21 |
47 |
1.2e-2 |
SMART |
|
low complexity region
|
74 |
85 |
N/A |
INTRINSIC |
|
Pfam:EPL1
|
106 |
254 |
4.9e-36 |
PFAM |
|
PHD
|
274 |
320 |
4.9e-12 |
SMART |
|
PHD
|
384 |
447 |
6.8e-10 |
SMART |
|
low complexity region
|
461 |
498 |
N/A |
INTRINSIC |
|
BROMO
|
625 |
739 |
1.3e-34 |
SMART |
|
low complexity region
|
768 |
779 |
N/A |
INTRINSIC |
|
low complexity region
|
861 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
946 |
970 |
N/A |
INTRINSIC |
|
low complexity region
|
999 |
1025 |
N/A |
INTRINSIC |
|
PWWP
|
1087 |
1170 |
2.6e-44 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous disruption of this gene leads to embryonic lethality around E9.5 and disrupts histone acetylation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
C |
5: 24,771,560 (GRCm39) |
T556A |
possibly damaging |
Het |
| B230104I21Rik |
G |
T |
4: 154,434,004 (GRCm39) |
E63* |
probably null |
Het |
| Brd10 |
A |
T |
19: 29,731,541 (GRCm39) |
H490Q |
possibly damaging |
Het |
| Cacna1i |
G |
A |
15: 80,271,978 (GRCm39) |
G1582D |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,465,572 (GRCm39) |
D1428V |
probably damaging |
Het |
| Ccdc178 |
G |
A |
18: 22,278,516 (GRCm39) |
T69I |
possibly damaging |
Het |
| Ccdc62 |
T |
A |
5: 124,089,288 (GRCm39) |
L309I |
possibly damaging |
Het |
| Ces5a |
T |
C |
8: 94,257,430 (GRCm39) |
N125S |
probably damaging |
Het |
| Cps1 |
G |
T |
1: 67,259,662 (GRCm39) |
V1335L |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,015,492 (GRCm39) |
N4S |
probably benign |
Het |
| Dlx6 |
C |
A |
6: 6,863,406 (GRCm39) |
D9E |
probably damaging |
Het |
| Dnah12 |
A |
C |
14: 26,495,713 (GRCm39) |
D198A |
probably damaging |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
T |
C |
9: 64,981,866 (GRCm39) |
M716T |
possibly damaging |
Het |
| Dvl3 |
T |
A |
16: 20,335,961 (GRCm39) |
I6N |
possibly damaging |
Het |
| Egflam |
A |
G |
15: 7,319,263 (GRCm39) |
|
probably null |
Het |
| Eprs1 |
A |
T |
1: 185,111,763 (GRCm39) |
M258L |
probably benign |
Het |
| Etnk1 |
A |
T |
6: 143,149,144 (GRCm39) |
M352L |
probably benign |
Het |
| Fam124a |
A |
C |
14: 62,824,947 (GRCm39) |
D147A |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,056,647 (GRCm39) |
D468G |
possibly damaging |
Het |
| Grm8 |
T |
A |
6: 27,429,469 (GRCm39) |
Q475L |
probably benign |
Het |
| Kel |
T |
C |
6: 41,679,334 (GRCm39) |
E143G |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,840,676 (GRCm39) |
Y1147H |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,519,827 (GRCm39) |
K1729E |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,693,496 (GRCm39) |
R433H |
probably benign |
Het |
| Mettl14 |
T |
C |
3: 123,167,687 (GRCm39) |
I224V |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,869,299 (GRCm39) |
N614S |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,313,004 (GRCm39) |
V1061I |
probably benign |
Het |
| Mtcl3 |
T |
A |
10: 29,022,748 (GRCm39) |
C32S |
probably benign |
Het |
| Myo1h |
T |
C |
5: 114,497,588 (GRCm39) |
V27A |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,358,367 (GRCm39) |
H956Q |
probably benign |
Het |
| Or11h7 |
A |
T |
14: 50,891,101 (GRCm39) |
M136L |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,120 (GRCm39) |
N172S |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 58,070,513 (GRCm39) |
T1064S |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,280 (GRCm39) |
E314G |
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pgr |
A |
T |
9: 8,922,645 (GRCm39) |
D605V |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,860,579 (GRCm39) |
S904G |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,394,486 (GRCm39) |
I1807T |
possibly damaging |
Het |
| Serpinb3c |
T |
A |
1: 107,200,468 (GRCm39) |
Q225L |
probably damaging |
Het |
| Strn3 |
A |
C |
12: 51,696,956 (GRCm39) |
D258E |
probably damaging |
Het |
| Tent2 |
A |
G |
13: 93,320,612 (GRCm39) |
I147T |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,985,049 (GRCm39) |
R19H |
probably benign |
Het |
| Themis |
T |
A |
10: 28,544,748 (GRCm39) |
|
probably null |
Het |
| Trim28 |
C |
T |
7: 12,764,445 (GRCm39) |
P753S |
probably damaging |
Het |
| Vac14 |
C |
T |
8: 111,442,070 (GRCm39) |
Q683* |
probably null |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Zfp541 |
T |
C |
7: 15,813,036 (GRCm39) |
I563T |
possibly damaging |
Het |
|
| Other mutations in Brpf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Brpf1
|
APN |
6 |
113,293,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00697:Brpf1
|
APN |
6 |
113,291,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00823:Brpf1
|
APN |
6 |
113,298,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00951:Brpf1
|
APN |
6 |
113,299,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01335:Brpf1
|
APN |
6 |
113,296,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01565:Brpf1
|
APN |
6 |
113,293,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02237:Brpf1
|
APN |
6 |
113,287,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Brpf1
|
UTSW |
6 |
113,292,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Brpf1
|
UTSW |
6 |
113,299,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1517:Brpf1
|
UTSW |
6 |
113,296,050 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1525:Brpf1
|
UTSW |
6 |
113,294,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Brpf1
|
UTSW |
6 |
113,296,892 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1925:Brpf1
|
UTSW |
6 |
113,296,891 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2928:Brpf1
|
UTSW |
6 |
113,299,007 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3900:Brpf1
|
UTSW |
6 |
113,295,394 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4019:Brpf1
|
UTSW |
6 |
113,287,243 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4630:Brpf1
|
UTSW |
6 |
113,286,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Brpf1
|
UTSW |
6 |
113,297,408 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4757:Brpf1
|
UTSW |
6 |
113,292,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Brpf1
|
UTSW |
6 |
113,294,639 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4866:Brpf1
|
UTSW |
6 |
113,299,431 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5073:Brpf1
|
UTSW |
6 |
113,287,215 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5197:Brpf1
|
UTSW |
6 |
113,296,902 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7011:Brpf1
|
UTSW |
6 |
113,295,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7585:Brpf1
|
UTSW |
6 |
113,292,007 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7655:Brpf1
|
UTSW |
6 |
113,291,835 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7656:Brpf1
|
UTSW |
6 |
113,291,835 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7956:Brpf1
|
UTSW |
6 |
113,297,493 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7994:Brpf1
|
UTSW |
6 |
113,292,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8008:Brpf1
|
UTSW |
6 |
113,296,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8222:Brpf1
|
UTSW |
6 |
113,286,999 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8725:Brpf1
|
UTSW |
6 |
113,293,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8727:Brpf1
|
UTSW |
6 |
113,293,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8968:Brpf1
|
UTSW |
6 |
113,299,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGCTGGCACCTAGAGATG -3'
(R):5'- CTGGTGACTGTGAGACTTCAG -3'
Sequencing Primer
(F):5'- CTGGCACCTAGAGATGCTCTAAAG -3'
(R):5'- CTGTGAGACTTCAGAGGGGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation