Incidental Mutation 'IGL02237:Brpf1'
ID |
285901 |
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 # |
IGL02237
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
113284098-113301821 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 113287336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 188
(P188L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108742
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041203]
[ENSMUST00000113117]
[ENSMUST00000113119]
[ENSMUST00000113121]
[ENSMUST00000113122]
[ENSMUST00000203577]
[ENSMUST00000204626]
[ENSMUST00000204198]
|
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: P188L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108742 Gene: ENSMUSG00000001632 AA Change: P188L
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 damaging
Transcript: ENSMUST00000113119
AA Change: P188L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108744 Gene: ENSMUSG00000001632 AA Change: P188L
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 |
possibly damaging
Transcript: ENSMUST00000113121
AA Change: P188L
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000108746 Gene: ENSMUSG00000001632 AA Change: P188L
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 damaging
Transcript: ENSMUST00000113122
AA Change: P188L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108747 Gene: ENSMUSG00000001632 AA Change: P188L
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: ENSMUST00000132372
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134523
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000203577
AA Change: P188L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144820 Gene: ENSMUSG00000001632 AA Change: P188L
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: ENSMUST00000204626
AA Change: P188L
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000145093 Gene: ENSMUSG00000001632 AA Change: P188L
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 |
possibly damaging
Transcript: ENSMUST00000204198
AA Change: P188L
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144804 Gene: ENSMUSG00000001632 AA Change: P188L
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 |
noncoding transcript
Transcript: ENSMUST00000156734
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203569
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16b |
T |
A |
2: 181,135,350 (GRCm39) |
V84E |
probably benign |
Het |
Adam39 |
A |
T |
8: 41,278,482 (GRCm39) |
E291V |
probably benign |
Het |
Ak5 |
T |
A |
3: 152,204,980 (GRCm39) |
D372V |
probably benign |
Het |
Cacna2d3 |
C |
T |
14: 29,068,954 (GRCm39) |
V258I |
probably benign |
Het |
Cd14 |
A |
G |
18: 36,858,912 (GRCm39) |
F181S |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cts6 |
A |
T |
13: 61,345,313 (GRCm39) |
D261E |
probably benign |
Het |
Daam1 |
A |
G |
12: 72,029,495 (GRCm39) |
T897A |
probably benign |
Het |
Ddx25 |
T |
A |
9: 35,453,365 (GRCm39) |
|
probably benign |
Het |
Ddx55 |
A |
G |
5: 124,705,958 (GRCm39) |
E461G |
probably damaging |
Het |
Degs1 |
T |
C |
1: 182,107,253 (GRCm39) |
K2R |
probably damaging |
Het |
Drc7 |
C |
T |
8: 95,799,507 (GRCm39) |
L561F |
probably damaging |
Het |
Eif4enif1 |
A |
T |
11: 3,177,876 (GRCm39) |
K423* |
probably null |
Het |
Epha7 |
A |
G |
4: 28,949,325 (GRCm39) |
|
probably null |
Het |
Erich5 |
A |
C |
15: 34,471,482 (GRCm39) |
E237A |
probably benign |
Het |
Ficd |
A |
G |
5: 113,876,373 (GRCm39) |
T183A |
probably damaging |
Het |
Foxb2 |
T |
C |
19: 16,850,908 (GRCm39) |
M33V |
unknown |
Het |
Gja8 |
T |
G |
3: 96,827,249 (GRCm39) |
S138R |
probably benign |
Het |
Gm28042 |
T |
G |
2: 119,870,380 (GRCm39) |
L743V |
possibly damaging |
Het |
Gtf3c2 |
A |
T |
5: 31,316,397 (GRCm39) |
|
probably benign |
Het |
Itga11 |
T |
C |
9: 62,663,057 (GRCm39) |
|
probably null |
Het |
Kazn |
A |
T |
4: 141,874,410 (GRCm39) |
D315E |
probably benign |
Het |
Kbtbd2 |
A |
T |
6: 56,756,033 (GRCm39) |
S568T |
possibly damaging |
Het |
Man1c1 |
A |
C |
4: 134,311,609 (GRCm39) |
|
probably null |
Het |
Myh9 |
A |
G |
15: 77,670,854 (GRCm39) |
S463P |
probably benign |
Het |
Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
Oog2 |
T |
A |
4: 143,923,016 (GRCm39) |
F427Y |
possibly damaging |
Het |
Pcmtd1 |
T |
C |
1: 7,233,601 (GRCm39) |
|
probably null |
Het |
Pcnt |
C |
A |
10: 76,188,818 (GRCm39) |
D2861Y |
probably damaging |
Het |
Pdzd7 |
C |
T |
19: 45,028,697 (GRCm39) |
A149T |
probably damaging |
Het |
Pebp4 |
A |
T |
14: 70,297,105 (GRCm39) |
T215S |
possibly damaging |
Het |
Pgm1 |
T |
C |
4: 99,820,707 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
T |
A |
17: 84,883,213 (GRCm39) |
D760E |
probably benign |
Het |
Pomt1 |
T |
C |
2: 32,135,689 (GRCm39) |
I351T |
probably benign |
Het |
Ptpn21 |
C |
T |
12: 98,671,351 (GRCm39) |
|
probably null |
Het |
Rsad2 |
T |
G |
12: 26,506,186 (GRCm39) |
Y78S |
probably damaging |
Het |
Rsbn1l |
A |
T |
5: 21,124,604 (GRCm39) |
N399K |
probably benign |
Het |
Sec31a |
A |
G |
5: 100,509,914 (GRCm39) |
V1191A |
probably damaging |
Het |
Sema6c |
C |
T |
3: 95,077,430 (GRCm39) |
P414L |
probably damaging |
Het |
Serpinb5 |
T |
C |
1: 106,808,056 (GRCm39) |
S69P |
probably benign |
Het |
Slc25a13 |
C |
T |
6: 6,042,646 (GRCm39) |
R586H |
probably damaging |
Het |
Spink5 |
T |
A |
18: 44,145,934 (GRCm39) |
M776K |
probably benign |
Het |
Srcap |
A |
G |
7: 127,133,864 (GRCm39) |
|
probably benign |
Het |
Stt3a |
G |
A |
9: 36,660,933 (GRCm39) |
Q293* |
probably null |
Het |
Syne4 |
T |
A |
7: 30,015,988 (GRCm39) |
|
probably null |
Het |
Tomm40l |
C |
T |
1: 171,048,463 (GRCm39) |
V97M |
possibly damaging |
Het |
Trpc4 |
C |
T |
3: 54,129,783 (GRCm39) |
S183F |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,716,478 (GRCm39) |
|
probably benign |
Het |
Ufl1 |
A |
C |
4: 25,269,082 (GRCm39) |
S170A |
probably benign |
Het |
Vmn2r66 |
G |
A |
7: 84,643,908 (GRCm39) |
T834I |
probably benign |
Het |
Vmn2r75 |
A |
G |
7: 85,814,786 (GRCm39) |
S236P |
possibly damaging |
Het |
Zfp345 |
A |
T |
2: 150,316,805 (GRCm39) |
|
probably benign |
Het |
Zfp955b |
T |
C |
17: 33,520,893 (GRCm39) |
S121P |
probably 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 |
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 |
2015-04-16 |