Incidental Mutation 'IGL00823:Brpf1'
ID |
9306 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Brpf1
|
Ensembl Gene |
ENSMUSG00000001632 |
Gene Name |
bromodomain and PHD finger containing, 1 |
Synonyms |
4833438B11Rik, 4930540D11Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
IGL00823
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
113284098-113301821 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113298847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1074
(S1074P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144820
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113117]
[ENSMUST00000113119]
[ENSMUST00000113121]
[ENSMUST00000113122]
[ENSMUST00000203577]
[ENSMUST00000204198]
[ENSMUST00000204626]
|
AlphaFold |
B2RRD7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000113117
AA Change: S1068P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000108742 Gene: ENSMUSG00000001632 AA Change: S1068P
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 |
probably benign
Transcript: ENSMUST00000113119
AA Change: S1069P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000108744 Gene: ENSMUSG00000001632 AA Change: S1069P
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
|
SMART Domains |
Protein: ENSMUSP00000108746 Gene: ENSMUSG00000001632
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 |
probably benign
Transcript: ENSMUST00000113122
|
SMART Domains |
Protein: ENSMUSP00000108747 Gene: ENSMUSG00000001632
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 |
noncoding transcript
Transcript: ENSMUST00000124530
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131594
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138737
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203577
AA Change: S1074P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000144820 Gene: ENSMUSG00000001632 AA Change: S1074P
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 |
probably benign
Transcript: ENSMUST00000204198
|
SMART Domains |
Protein: ENSMUSP00000144804 Gene: ENSMUSG00000001632
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 |
probably benign
Transcript: ENSMUST00000204626
|
SMART Domains |
Protein: ENSMUSP00000145093 Gene: ENSMUSG00000001632
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156734
|
Coding Region Coverage |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
T |
C |
5: 77,026,381 (GRCm39) |
|
probably benign |
Het |
Adam5 |
T |
C |
8: 25,308,758 (GRCm39) |
E39G |
probably benign |
Het |
Anapc7 |
G |
A |
5: 122,571,540 (GRCm39) |
W205* |
probably null |
Het |
Arhgap5 |
C |
T |
12: 52,565,525 (GRCm39) |
T832I |
possibly damaging |
Het |
Arhgef10 |
T |
A |
8: 14,990,378 (GRCm39) |
|
probably benign |
Het |
Atg5 |
A |
G |
10: 44,239,040 (GRCm39) |
T274A |
probably benign |
Het |
Baiap2l2 |
G |
T |
15: 79,168,765 (GRCm39) |
|
probably benign |
Het |
Brap |
T |
A |
5: 121,803,290 (GRCm39) |
M146K |
probably damaging |
Het |
Camta1 |
A |
C |
4: 151,169,058 (GRCm39) |
I231R |
probably benign |
Het |
Ccdc15 |
C |
T |
9: 37,231,709 (GRCm39) |
G205D |
probably benign |
Het |
Cd6 |
G |
T |
19: 10,773,758 (GRCm39) |
|
probably benign |
Het |
Cdh17 |
T |
G |
4: 11,783,412 (GRCm39) |
S219R |
possibly damaging |
Het |
Cgn |
G |
A |
3: 94,674,519 (GRCm39) |
R873W |
probably damaging |
Het |
Ctnna3 |
C |
T |
10: 63,373,322 (GRCm39) |
P41L |
possibly damaging |
Het |
Dmbt1 |
T |
C |
7: 130,659,888 (GRCm39) |
W484R |
probably benign |
Het |
Dmd |
A |
G |
X: 83,469,419 (GRCm39) |
|
probably null |
Het |
Dnah17 |
C |
T |
11: 117,937,987 (GRCm39) |
V3347I |
probably benign |
Het |
Fgd5 |
T |
A |
6: 91,965,440 (GRCm39) |
S400T |
possibly damaging |
Het |
Kitl |
C |
A |
10: 99,923,206 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
A |
T |
2: 31,808,533 (GRCm39) |
D763V |
probably damaging |
Het |
Lgmn |
T |
C |
12: 102,364,435 (GRCm39) |
|
probably benign |
Het |
Lpcat2 |
T |
G |
8: 93,591,598 (GRCm39) |
W81G |
possibly damaging |
Het |
Myh13 |
A |
G |
11: 67,246,773 (GRCm39) |
I1165V |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,456,343 (GRCm39) |
D599G |
probably damaging |
Het |
Nin |
T |
C |
12: 70,061,567 (GRCm39) |
N2099S |
probably benign |
Het |
Nlrc4 |
T |
C |
17: 74,754,985 (GRCm39) |
D77G |
probably benign |
Het |
Otub1 |
A |
G |
19: 7,181,416 (GRCm39) |
|
probably benign |
Het |
Pabir2 |
A |
T |
X: 52,334,208 (GRCm39) |
C222S |
probably damaging |
Het |
Pah |
A |
G |
10: 87,406,193 (GRCm39) |
Y174C |
probably null |
Het |
Rbbp5 |
G |
A |
1: 132,417,444 (GRCm39) |
V88I |
probably damaging |
Het |
Scn1a |
C |
T |
2: 66,155,279 (GRCm39) |
R560H |
probably benign |
Het |
Snx5 |
T |
C |
2: 144,097,485 (GRCm39) |
I217V |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,036,016 (GRCm39) |
S3769P |
probably damaging |
Het |
Tent2 |
T |
C |
13: 93,322,905 (GRCm39) |
T15A |
probably benign |
Het |
Tmem255b |
T |
C |
8: 13,507,054 (GRCm39) |
M261T |
probably benign |
Het |
Top3b |
T |
C |
16: 16,705,486 (GRCm39) |
I417T |
probably damaging |
Het |
Tspan2 |
T |
C |
3: 102,665,549 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,540,057 (GRCm39) |
T34310A |
possibly damaging |
Het |
Ush2a |
G |
A |
1: 188,643,640 (GRCm39) |
C4334Y |
possibly damaging |
Het |
Wdpcp |
A |
G |
11: 21,609,995 (GRCm39) |
D21G |
probably damaging |
Het |
Yy2 |
A |
C |
X: 156,351,207 (GRCm39) |
D186E |
probably benign |
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 |
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 |
R9518:Brpf1
|
UTSW |
6 |
113,286,795 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Posted On |
2012-12-06 |