Incidental Mutation 'R2928:Brpf1'
| ID |
254930 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2928 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113284098-113301821 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113299007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1127
(V1127A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032406]
[ENSMUST00000113117]
[ENSMUST00000113119]
[ENSMUST00000113121]
[ENSMUST00000113122]
[ENSMUST00000203577]
[ENSMUST00000204626]
[ENSMUST00000204198]
[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 |
possibly damaging
Transcript: ENSMUST00000113117
AA Change: V1121A
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108742
Gene: ENSMUSG00000001632
AA Change: V1121A
| 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: V1122A
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108744
Gene: ENSMUSG00000001632
AA Change: V1122A
| 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: V1094A
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108746
Gene: ENSMUSG00000001632
AA Change: V1094A
| 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: V1087A
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108747
Gene: ENSMUSG00000001632
AA Change: V1087A
| 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 |
noncoding transcript
Transcript: ENSMUST00000138737
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203577
AA Change: V1127A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144820
Gene: ENSMUSG00000001632
AA Change: V1127A
| 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: V1093A
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000145093
Gene: ENSMUSG00000001632
AA Change: V1093A
| 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 |
probably benign
Transcript: ENSMUST00000204198
AA Change: V993A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000144804
Gene: ENSMUSG00000001632
AA Change: V993A
| 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: 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: 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131594
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| 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: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
T |
C |
2: 128,522,057 (GRCm39) |
K167R |
probably damaging |
Het |
| Cept1 |
G |
A |
3: 106,438,468 (GRCm39) |
T205I |
probably benign |
Het |
| Cpd |
T |
C |
11: 76,737,200 (GRCm39) |
D198G |
probably benign |
Het |
| Csad |
A |
G |
15: 102,086,139 (GRCm39) |
F464S |
probably damaging |
Het |
| Fcrl1 |
A |
G |
3: 87,298,564 (GRCm39) |
N353S |
probably benign |
Het |
| Glb1l2 |
A |
T |
9: 26,679,722 (GRCm39) |
M410K |
probably benign |
Het |
| Gskip |
T |
A |
12: 105,667,002 (GRCm39) |
F127I |
probably damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,818,744 (GRCm39) |
T671A |
probably benign |
Het |
| Or5aq7 |
A |
T |
2: 86,938,107 (GRCm39) |
I208N |
possibly damaging |
Het |
| Tmem260 |
T |
C |
14: 48,724,207 (GRCm39) |
F352L |
probably damaging |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,402 (GRCm39) |
N396S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGAATGAGGCCTACTCCGTG -3'
(R):5'- GCCTACCAGTCTACCTGCTAAG -3'
Sequencing Primer
(F):5'- TGGGCCACAGCAGTAAGTACC -3'
(R):5'- TAAGGAGCCCTGGACTCCATAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation