Incidental Mutation 'R1525:Brpf1'
| ID |
167778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brpf1
|
| Ensembl Gene |
ENSMUSG00000001632 |
| Gene Name |
bromodomain and PHD finger containing, 1 |
| Synonyms |
4833438B11Rik, 4930540D11Rik |
| MMRRC Submission |
040872-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R1525 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
113284098-113301821 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113294115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 605
(E605G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113117]
[ENSMUST00000113119]
[ENSMUST00000113121]
[ENSMUST00000113122]
[ENSMUST00000203577]
[ENSMUST00000204198]
[ENSMUST00000204626]
|
| AlphaFold |
B2RRD7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113117
AA Change: E605G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108742
Gene: ENSMUSG00000001632
AA Change: E605G
| 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: E605G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108744
Gene: ENSMUSG00000001632
AA Change: E605G
| 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 damaging
Transcript: ENSMUST00000113121
AA Change: E605G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108746
Gene: ENSMUSG00000001632
AA Change: E605G
| 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: E605G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108747
Gene: ENSMUSG00000001632
AA Change: E605G
| 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 damaging
Transcript: ENSMUST00000203577
AA Change: E605G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144820
Gene: ENSMUSG00000001632
AA Change: E605G
| 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 damaging
Transcript: ENSMUST00000204198
AA Change: E605G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144804
Gene: ENSMUSG00000001632
AA Change: E605G
| 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: ENSMUST00000204626
AA Change: E605G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145093
Gene: ENSMUSG00000001632
AA Change: E605G
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
T |
11: 94,252,062 (GRCm39) |
H840Q |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,605,767 (GRCm39) |
R540C |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,694,199 (GRCm39) |
I865V |
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,876,046 (GRCm39) |
F199I |
probably damaging |
Het |
| Cdk9 |
A |
G |
2: 32,600,521 (GRCm39) |
V27A |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,690,230 (GRCm39) |
|
probably null |
Het |
| Cyp2d11 |
G |
T |
15: 82,273,498 (GRCm39) |
L458I |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,408,138 (GRCm39) |
E1898G |
probably damaging |
Het |
| Dennd4b |
G |
T |
3: 90,178,177 (GRCm39) |
L456F |
probably damaging |
Het |
| Dgat1 |
T |
C |
15: 76,395,786 (GRCm39) |
T66A |
probably benign |
Het |
| Dock10 |
C |
A |
1: 80,583,881 (GRCm39) |
|
probably null |
Het |
| Fam110b |
A |
G |
4: 5,799,578 (GRCm39) |
D332G |
possibly damaging |
Het |
| Fem1al |
A |
C |
11: 29,773,994 (GRCm39) |
Y488D |
probably benign |
Het |
| Frmd4b |
G |
A |
6: 97,273,347 (GRCm39) |
P628S |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,753,529 (GRCm39) |
H852Q |
probably benign |
Het |
| Il17ra |
T |
C |
6: 120,450,751 (GRCm39) |
V116A |
probably damaging |
Het |
| Ints9 |
T |
C |
14: 65,232,460 (GRCm39) |
I173T |
probably benign |
Het |
| Kctd14 |
A |
T |
7: 97,107,074 (GRCm39) |
M110L |
probably benign |
Het |
| Krt6a |
T |
G |
15: 101,602,637 (GRCm39) |
Y16S |
probably benign |
Het |
| Lamc2 |
T |
C |
1: 153,006,502 (GRCm39) |
N883S |
probably benign |
Het |
| Larp4b |
C |
T |
13: 9,195,486 (GRCm39) |
T195M |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,375,398 (GRCm39) |
L4432P |
probably damaging |
Het |
| Mei4 |
T |
C |
9: 81,772,252 (GRCm39) |
S22P |
probably damaging |
Het |
| Mep1a |
T |
C |
17: 43,802,527 (GRCm39) |
Q166R |
probably damaging |
Het |
| Mroh2b |
C |
A |
15: 4,980,612 (GRCm39) |
|
probably null |
Het |
| Myoc |
T |
G |
1: 162,476,220 (GRCm39) |
L308R |
probably damaging |
Het |
| Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
| Or1j21 |
A |
T |
2: 36,684,155 (GRCm39) |
R302S |
probably null |
Het |
| Or2t6 |
T |
A |
14: 14,175,725 (GRCm38) |
Y119F |
probably damaging |
Het |
| Or4c101 |
C |
G |
2: 88,389,985 (GRCm39) |
S57R |
probably damaging |
Het |
| Pdilt |
T |
A |
7: 119,087,217 (GRCm39) |
T478S |
probably damaging |
Het |
| Pias1 |
T |
C |
9: 62,827,769 (GRCm39) |
K222E |
probably damaging |
Het |
| Prss16 |
A |
C |
13: 22,193,613 (GRCm39) |
L61V |
possibly damaging |
Het |
| Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
| Pvr |
G |
A |
7: 19,644,551 (GRCm39) |
Q328* |
probably null |
Het |
| Ranbp3 |
A |
G |
17: 57,017,865 (GRCm39) |
D481G |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
G |
T |
2: 112,508,435 (GRCm39) |
D3419E |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,149,806 (GRCm39) |
W946* |
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,266,864 (GRCm39) |
K242E |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,226,848 (GRCm39) |
D657G |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,532,533 (GRCm39) |
I2930K |
probably benign |
Het |
| Syna |
T |
C |
5: 134,588,112 (GRCm39) |
D279G |
probably benign |
Het |
| Tfr2 |
T |
C |
5: 137,577,292 (GRCm39) |
F415L |
probably benign |
Het |
| Tmem97 |
T |
A |
11: 78,433,586 (GRCm39) |
Y103F |
probably damaging |
Het |
| Tmem97 |
A |
T |
11: 78,433,587 (GRCm39) |
Y103N |
probably damaging |
Het |
| Txndc2 |
T |
A |
17: 65,945,310 (GRCm39) |
D289V |
probably damaging |
Het |
| Zbtb1 |
T |
G |
12: 76,433,206 (GRCm39) |
D397E |
probably benign |
Het |
| Zc3h18 |
T |
C |
8: 123,140,677 (GRCm39) |
S847P |
probably benign |
Het |
| Zfp382 |
G |
A |
7: 29,833,144 (GRCm39) |
G265E |
probably damaging |
Het |
| Zfp410 |
T |
C |
12: 84,369,740 (GRCm39) |
L39S |
probably damaging |
Het |
| Zfp729a |
G |
T |
13: 67,767,440 (GRCm39) |
P930T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACTCTGAAACGACAATCACGG -3'
(R):5'- TGCTGGAACTCAGAATGCCAGTATG -3'
Sequencing Primer
(F):5'- tcaacaaacataccaagcattttc -3'
(R):5'- AGAATGCCAGTATGGGCCTTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation