Incidental Mutation 'IGL00951:Brpf1'
ID |
27663 |
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: 0.966)
|
Stock # |
IGL00951
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
113284098-113301821 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 113299514 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1182
(D1182E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108744
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032406]
[ENSMUST00000113117]
[ENSMUST00000113119]
[ENSMUST00000113121]
[ENSMUST00000113122]
[ENSMUST00000204198]
[ENSMUST00000203577]
[ENSMUST00000204626]
[ENSMUST00000136263]
[ENSMUST00000204834]
|
AlphaFold |
B2RRD7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032406
|
SMART Domains |
Protein: ENSMUSP00000032406 Gene: ENSMUSG00000030271
Domain | Start | End | E-Value | Type |
Pfam:OGG_N
|
25 |
141 |
4e-38 |
PFAM |
ENDO3c
|
146 |
316 |
4.84e-35 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113117
AA Change: D1181E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108742 Gene: ENSMUSG00000001632 AA Change: D1181E
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: D1182E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108744 Gene: ENSMUSG00000001632 AA Change: D1182E
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: D1154E
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000108746 Gene: ENSMUSG00000001632 AA Change: D1154E
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: D1147E
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108747 Gene: ENSMUSG00000001632 AA Change: D1147E
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: ENSMUST00000129871
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204198
AA Change: D1053E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000144804 Gene: ENSMUSG00000001632 AA Change: D1053E
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 damaging
Transcript: ENSMUST00000203577
AA Change: D1187E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144820 Gene: ENSMUSG00000001632 AA Change: D1187E
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: D1153E
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000145093 Gene: ENSMUSG00000001632 AA Change: D1153E
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: ENSMUST00000138737
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136263
|
SMART Domains |
Protein: ENSMUSP00000144792 Gene: ENSMUSG00000030271
Domain | Start | End | E-Value | Type |
Pfam:OGG_N
|
25 |
130 |
3e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203721
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131594
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156734
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154350
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204834
|
SMART Domains |
Protein: ENSMUSP00000144905 Gene: ENSMUSG00000030271
Domain | Start | End | E-Value | Type |
Pfam:OGG_N
|
25 |
134 |
1.2e-27 |
PFAM |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armc8 |
C |
A |
9: 99,387,757 (GRCm39) |
R388L |
probably benign |
Het |
Bcan |
T |
C |
3: 87,901,481 (GRCm39) |
E407G |
probably damaging |
Het |
Brms1l |
A |
G |
12: 55,912,834 (GRCm39) |
I276V |
possibly damaging |
Het |
Clpb |
A |
G |
7: 101,400,467 (GRCm39) |
M268V |
probably benign |
Het |
Cpne8 |
A |
T |
15: 90,486,096 (GRCm39) |
|
probably benign |
Het |
Ddx25 |
A |
T |
9: 35,464,131 (GRCm39) |
|
probably null |
Het |
Dgki |
A |
G |
6: 36,977,094 (GRCm39) |
M672T |
probably damaging |
Het |
Fhdc1 |
T |
C |
3: 84,371,620 (GRCm39) |
T112A |
possibly damaging |
Het |
Galnt7 |
A |
T |
8: 58,036,858 (GRCm39) |
M177K |
probably damaging |
Het |
Gucy1a1 |
T |
C |
3: 82,018,498 (GRCm39) |
D113G |
probably benign |
Het |
Hp |
T |
C |
8: 110,304,129 (GRCm39) |
D24G |
possibly damaging |
Het |
Jak2 |
A |
G |
19: 29,276,983 (GRCm39) |
R847G |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,906,281 (GRCm39) |
D2391E |
probably benign |
Het |
Mpzl1 |
A |
G |
1: 165,433,391 (GRCm39) |
F87L |
probably damaging |
Het |
Ms4a4d |
A |
T |
19: 11,532,285 (GRCm39) |
I144F |
probably benign |
Het |
Or5h18 |
G |
A |
16: 58,848,216 (GRCm39) |
T18I |
probably benign |
Het |
Or5h23 |
A |
C |
16: 58,906,756 (GRCm39) |
L30R |
possibly damaging |
Het |
Or5i1 |
A |
T |
2: 87,612,883 (GRCm39) |
I2F |
probably benign |
Het |
Or6c219 |
A |
G |
10: 129,781,581 (GRCm39) |
S2P |
probably damaging |
Het |
Or6d14 |
G |
A |
6: 116,534,027 (GRCm39) |
V214I |
probably benign |
Het |
Prr16 |
A |
G |
18: 51,436,411 (GRCm39) |
R297G |
probably damaging |
Het |
Ralgps1 |
A |
C |
2: 33,163,614 (GRCm39) |
L148V |
probably damaging |
Het |
Rara |
A |
G |
11: 98,858,992 (GRCm39) |
D150G |
probably benign |
Het |
Rb1 |
A |
T |
14: 73,559,512 (GRCm39) |
V64D |
probably damaging |
Het |
Ros1 |
A |
G |
10: 52,019,348 (GRCm39) |
Y742H |
probably damaging |
Het |
Rpl7a |
A |
G |
2: 26,802,441 (GRCm39) |
D160G |
possibly damaging |
Het |
Sdccag8 |
A |
G |
1: 176,705,568 (GRCm39) |
M461V |
possibly damaging |
Het |
Tagln |
T |
A |
9: 45,842,170 (GRCm39) |
N141I |
probably benign |
Het |
Tas2r140 |
A |
T |
6: 40,468,913 (GRCm39) |
R248* |
probably null |
Het |
Ube2j2 |
C |
T |
4: 156,030,834 (GRCm39) |
|
probably benign |
Het |
Ulk1 |
A |
G |
5: 110,940,270 (GRCm39) |
C384R |
possibly damaging |
Het |
Ush2a |
A |
T |
1: 187,995,662 (GRCm39) |
E144D |
probably benign |
Het |
Vkorc1l1 |
C |
T |
5: 130,011,108 (GRCm39) |
T144I |
probably benign |
Het |
Zfp235 |
T |
C |
7: 23,836,505 (GRCm39) |
F17S |
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 |
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 |
2013-04-17 |