Incidental Mutation 'R1659:Brd7'
| ID |
186598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brd7
|
| Ensembl Gene |
ENSMUSG00000031660 |
| Gene Name |
bromodomain containing 7 |
| Synonyms |
BP75, CELTIX1, bromodomain protein 75 kDa |
| MMRRC Submission |
039695-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.746)
|
| Stock # |
R1659 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
89057667-89088822 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89060420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 568
(P568T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034085]
[ENSMUST00000098521]
[ENSMUST00000171456]
[ENSMUST00000168545]
[ENSMUST00000169037]
|
| AlphaFold |
O88665 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034085
AA Change: P568T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034085
Gene: ENSMUSG00000031660
AA Change: P568T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
96 |
N/A |
INTRINSIC |
|
BROMO
|
129 |
237 |
9.72e-38 |
SMART |
|
Pfam:DUF3512
|
287 |
534 |
2.4e-93 |
PFAM |
|
coiled coil region
|
535 |
564 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098521
|
| SMART Domains |
Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
53 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
113 |
N/A |
INTRINSIC |
|
transmembrane domain
|
123 |
140 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
transmembrane domain
|
179 |
198 |
N/A |
INTRINSIC |
|
CYCc
|
226 |
434 |
2.99e-64 |
SMART |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
Pfam:DUF1053
|
487 |
594 |
8.8e-27 |
PFAM |
|
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
|
transmembrane domain
|
670 |
692 |
N/A |
INTRINSIC |
|
transmembrane domain
|
719 |
741 |
N/A |
INTRINSIC |
|
transmembrane domain
|
748 |
770 |
N/A |
INTRINSIC |
|
transmembrane domain
|
816 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
858 |
N/A |
INTRINSIC |
|
CYCc
|
859 |
1071 |
1.54e-43 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131748
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139675
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145609
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149841
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210688
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171456
|
| SMART Domains |
Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
91 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
142 |
N/A |
INTRINSIC |
|
CYCc
|
226 |
434 |
2.99e-64 |
SMART |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
Pfam:DUF1053
|
487 |
594 |
1.2e-35 |
PFAM |
|
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
|
transmembrane domain
|
670 |
692 |
N/A |
INTRINSIC |
|
transmembrane domain
|
719 |
741 |
N/A |
INTRINSIC |
|
transmembrane domain
|
748 |
770 |
N/A |
INTRINSIC |
|
transmembrane domain
|
816 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
858 |
N/A |
INTRINSIC |
|
CYCc
|
859 |
1071 |
1.54e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168545
|
| SMART Domains |
Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
53 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
113 |
N/A |
INTRINSIC |
|
transmembrane domain
|
123 |
140 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
transmembrane domain
|
179 |
198 |
N/A |
INTRINSIC |
|
CYCc
|
226 |
434 |
2.99e-64 |
SMART |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
Pfam:DUF1053
|
487 |
594 |
8.8e-27 |
PFAM |
|
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
|
transmembrane domain
|
670 |
692 |
N/A |
INTRINSIC |
|
transmembrane domain
|
719 |
741 |
N/A |
INTRINSIC |
|
transmembrane domain
|
748 |
770 |
N/A |
INTRINSIC |
|
transmembrane domain
|
816 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
858 |
N/A |
INTRINSIC |
|
CYCc
|
859 |
1071 |
1.54e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169037
|
| SMART Domains |
Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
34 |
53 |
N/A |
INTRINSIC |
|
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
113 |
N/A |
INTRINSIC |
|
transmembrane domain
|
123 |
140 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
169 |
N/A |
INTRINSIC |
|
transmembrane domain
|
179 |
198 |
N/A |
INTRINSIC |
|
CYCc
|
226 |
434 |
2.99e-64 |
SMART |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
Pfam:DUF1053
|
487 |
594 |
8.8e-27 |
PFAM |
|
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
|
transmembrane domain
|
670 |
692 |
N/A |
INTRINSIC |
|
transmembrane domain
|
719 |
741 |
N/A |
INTRINSIC |
|
transmembrane domain
|
748 |
770 |
N/A |
INTRINSIC |
|
transmembrane domain
|
816 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
847 |
858 |
N/A |
INTRINSIC |
|
CYCc
|
859 |
1071 |
1.54e-43 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired cognitive behavior and dendrite morphology in the medial prefrontal cortex. Mice homozygous for a different knock-out allele die in utero prior to E16.5, showing fetal growth retardation and altered limb, blood vessel and organ development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
A |
5: 4,114,633 (GRCm39) |
L87Q |
probably damaging |
Het |
| Atp13a5 |
T |
G |
16: 29,112,251 (GRCm39) |
D630A |
probably benign |
Het |
| Ccdc141 |
A |
G |
2: 76,885,027 (GRCm39) |
L538P |
probably benign |
Het |
| Cd177 |
G |
T |
7: 24,445,562 (GRCm39) |
T627K |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdhr2 |
T |
A |
13: 54,867,574 (GRCm39) |
I468N |
probably damaging |
Het |
| Cdk14 |
T |
C |
5: 4,999,571 (GRCm39) |
T338A |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,321,411 (GRCm39) |
T467I |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,554,581 (GRCm39) |
E380G |
probably damaging |
Het |
| Cnnm4 |
C |
A |
1: 36,511,246 (GRCm39) |
T158N |
probably benign |
Het |
| Ddx51 |
T |
A |
5: 110,802,986 (GRCm39) |
I254N |
probably damaging |
Het |
| Deptor |
G |
A |
15: 55,081,670 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 118,084,459 (GRCm39) |
H1215L |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,390,972 (GRCm39) |
Y744C |
probably damaging |
Het |
| Dok7 |
C |
T |
5: 35,236,483 (GRCm39) |
T257I |
possibly damaging |
Het |
| Eif4g1 |
T |
C |
16: 20,499,811 (GRCm39) |
Y591H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,479 (GRCm39) |
T2508A |
possibly damaging |
Het |
| Gm266 |
A |
G |
12: 111,451,723 (GRCm39) |
V161A |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,707,979 (GRCm39) |
I107V |
probably benign |
Het |
| Gpnmb |
T |
C |
6: 49,024,786 (GRCm39) |
F273L |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 118,112,610 (GRCm39) |
Q858L |
probably damaging |
Het |
| Hcrtr1 |
G |
T |
4: 130,029,129 (GRCm39) |
Y224* |
probably null |
Het |
| Hepacam |
A |
G |
9: 37,291,954 (GRCm39) |
D94G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,784,853 (GRCm39) |
H1432Q |
probably benign |
Het |
| Il20 |
T |
A |
1: 130,836,086 (GRCm39) |
|
probably null |
Het |
| Itga10 |
A |
G |
3: 96,570,293 (GRCm39) |
T1150A |
probably damaging |
Het |
| Itgax |
C |
T |
7: 127,730,063 (GRCm39) |
T73I |
probably benign |
Het |
| Kdm6b |
T |
A |
11: 69,298,414 (GRCm39) |
Q98L |
possibly damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,867,045 (GRCm39) |
W899R |
probably damaging |
Het |
| Meikin |
C |
A |
11: 54,281,392 (GRCm39) |
S154* |
probably null |
Het |
| Mrgprg |
A |
T |
7: 143,318,288 (GRCm39) |
S275T |
possibly damaging |
Het |
| Mstn |
C |
T |
1: 53,103,236 (GRCm39) |
R191* |
probably null |
Het |
| Neu3 |
A |
G |
7: 99,462,640 (GRCm39) |
I361T |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 90,299,165 (GRCm39) |
D425G |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,211,723 (GRCm39) |
M1688K |
probably benign |
Het |
| Omg |
C |
T |
11: 79,393,726 (GRCm39) |
C44Y |
possibly damaging |
Het |
| Or1d2 |
A |
T |
11: 74,255,759 (GRCm39) |
Q88L |
probably benign |
Het |
| Or52n3 |
A |
G |
7: 104,530,387 (GRCm39) |
M158V |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,005,574 (GRCm39) |
D938G |
probably damaging |
Het |
| Pp2d1 |
T |
C |
17: 53,822,406 (GRCm39) |
D220G |
possibly damaging |
Het |
| Prune2 |
C |
T |
19: 17,098,015 (GRCm39) |
T1173I |
possibly damaging |
Het |
| Rbfox3 |
T |
C |
11: 118,384,981 (GRCm39) |
T359A |
probably damaging |
Het |
| Rhpn2 |
A |
G |
7: 35,076,466 (GRCm39) |
Y339C |
probably damaging |
Het |
| Rpl7a-ps3 |
A |
G |
15: 36,308,309 (GRCm39) |
|
noncoding transcript |
Het |
| Sars1 |
T |
C |
3: 108,336,732 (GRCm39) |
E217G |
probably damaging |
Het |
| Sec61a2 |
A |
G |
2: 5,891,345 (GRCm39) |
F62S |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,938,790 (GRCm39) |
I189N |
probably damaging |
Het |
| Slc5a10 |
G |
A |
11: 61,567,070 (GRCm39) |
A375V |
possibly damaging |
Het |
| Srfbp1 |
C |
T |
18: 52,621,967 (GRCm39) |
H343Y |
possibly damaging |
Het |
| Tbck |
T |
G |
3: 132,440,116 (GRCm39) |
I486M |
probably damaging |
Het |
| Thra |
G |
A |
11: 98,647,805 (GRCm39) |
A60T |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,504,063 (GRCm39) |
T364S |
possibly damaging |
Het |
| Ttc16 |
C |
T |
2: 32,652,547 (GRCm39) |
D761N |
probably benign |
Het |
| Vwa7 |
T |
C |
17: 35,238,047 (GRCm39) |
L216P |
probably benign |
Het |
| Ydjc |
T |
C |
16: 16,965,703 (GRCm39) |
V156A |
possibly damaging |
Het |
|
| Other mutations in Brd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01947:Brd7
|
APN |
8 |
89,059,503 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02172:Brd7
|
APN |
8 |
89,078,452 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02441:Brd7
|
APN |
8 |
89,070,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0241:Brd7
|
UTSW |
8 |
89,072,478 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0241:Brd7
|
UTSW |
8 |
89,072,478 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0845:Brd7
|
UTSW |
8 |
89,069,395 (GRCm39) |
nonsense |
probably null |
|
|
R1613:Brd7
|
UTSW |
8 |
89,073,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1663:Brd7
|
UTSW |
8 |
89,084,651 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2237:Brd7
|
UTSW |
8 |
89,073,541 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2280:Brd7
|
UTSW |
8 |
89,069,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2916:Brd7
|
UTSW |
8 |
89,069,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2917:Brd7
|
UTSW |
8 |
89,069,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3770:Brd7
|
UTSW |
8 |
89,066,035 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4030:Brd7
|
UTSW |
8 |
89,059,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5287:Brd7
|
UTSW |
8 |
89,084,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5403:Brd7
|
UTSW |
8 |
89,084,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6333:Brd7
|
UTSW |
8 |
89,071,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Brd7
|
UTSW |
8 |
89,073,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7072:Brd7
|
UTSW |
8 |
89,073,615 (GRCm39) |
missense |
probably benign |
|
|
R7445:Brd7
|
UTSW |
8 |
89,088,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7482:Brd7
|
UTSW |
8 |
89,088,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7977:Brd7
|
UTSW |
8 |
89,060,769 (GRCm39) |
missense |
probably benign |
|
|
R7987:Brd7
|
UTSW |
8 |
89,060,769 (GRCm39) |
missense |
probably benign |
|
|
R8205:Brd7
|
UTSW |
8 |
89,070,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8814:Brd7
|
UTSW |
8 |
89,071,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8984:Brd7
|
UTSW |
8 |
89,081,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9190:Brd7
|
UTSW |
8 |
89,081,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9296:Brd7
|
UTSW |
8 |
89,059,560 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
X0067:Brd7
|
UTSW |
8 |
89,070,325 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTACTCGCTCTGCTTACTTCACAG -3'
(R):5'- GCTGCCATGTCAGCACTAATGAACC -3'
Sequencing Primer
(F):5'- TCACAGTAAGTCACTCTCTGAAGTC -3'
(R):5'- GTTTGCTCCAGAGAATCATAGCAC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation