Incidental Mutation 'IGL01947:Brd7'
ID |
181279 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Brd7
|
Ensembl Gene |
ENSMUSG00000031660 |
Gene Name |
bromodomain containing 7 |
Synonyms |
BP75, CELTIX1, bromodomain protein 75 kDa |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.746)
|
Stock # |
IGL01947
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
89057667-89088822 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 89059503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034085]
[ENSMUST00000098521]
[ENSMUST00000169037]
[ENSMUST00000168545]
[ENSMUST00000171456]
|
AlphaFold |
O88665 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034085
|
SMART Domains |
Protein: ENSMUSP00000034085 Gene: ENSMUSG00000031660
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 |
probably benign
Transcript: ENSMUST00000210688
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149841
|
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 |
|
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: 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 |
|
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 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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
C |
3: 151,216,428 (GRCm39) |
|
probably null |
Het |
Aloxe3 |
T |
A |
11: 69,033,847 (GRCm39) |
|
probably benign |
Het |
Atic |
C |
T |
1: 71,609,996 (GRCm39) |
|
probably benign |
Het |
Avpr1a |
T |
C |
10: 122,288,087 (GRCm39) |
V365A |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,845,579 (GRCm39) |
N332D |
probably damaging |
Het |
Cdh20 |
C |
T |
1: 104,921,649 (GRCm39) |
P649S |
possibly damaging |
Het |
Cgnl1 |
T |
C |
9: 71,632,326 (GRCm39) |
T342A |
probably damaging |
Het |
Chst10 |
A |
G |
1: 38,904,646 (GRCm39) |
L349P |
probably damaging |
Het |
Cox6b2 |
T |
A |
7: 4,754,929 (GRCm39) |
K77* |
probably null |
Het |
Crnkl1 |
G |
A |
2: 145,763,744 (GRCm39) |
A498V |
probably benign |
Het |
Cux1 |
A |
G |
5: 136,303,979 (GRCm39) |
L1394P |
probably benign |
Het |
Dapp1 |
T |
C |
3: 137,641,404 (GRCm39) |
Y197C |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,959,280 (GRCm39) |
I164T |
probably benign |
Het |
Disp3 |
T |
A |
4: 148,344,976 (GRCm39) |
I472F |
probably damaging |
Het |
Gm10392 |
A |
T |
11: 77,408,306 (GRCm39) |
D104E |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gpd1 |
A |
G |
15: 99,618,112 (GRCm39) |
I143V |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,608,643 (GRCm39) |
N1513I |
possibly damaging |
Het |
Jakmip2 |
T |
C |
18: 43,680,159 (GRCm39) |
I733V |
probably benign |
Het |
Klhl12 |
T |
A |
1: 134,391,689 (GRCm39) |
L107H |
probably damaging |
Het |
Lcn8 |
A |
G |
2: 25,545,157 (GRCm39) |
D109G |
probably damaging |
Het |
Maz |
A |
T |
7: 126,623,614 (GRCm39) |
|
probably null |
Het |
Mttp |
T |
A |
3: 137,812,890 (GRCm39) |
D595V |
probably damaging |
Het |
Mymk |
A |
C |
2: 26,956,406 (GRCm39) |
L58R |
possibly damaging |
Het |
Nckap1 |
A |
C |
2: 80,339,097 (GRCm39) |
I977S |
probably damaging |
Het |
Nckap1l |
A |
T |
15: 103,399,442 (GRCm39) |
I1021F |
probably benign |
Het |
Or12d2 |
A |
T |
17: 37,624,556 (GRCm39) |
C240S |
probably damaging |
Het |
Or4f14b |
A |
T |
2: 111,775,339 (GRCm39) |
M154K |
probably benign |
Het |
Or4f6 |
A |
T |
2: 111,839,361 (GRCm39) |
S57T |
possibly damaging |
Het |
Or6c38 |
G |
A |
10: 128,929,747 (GRCm39) |
T32I |
possibly damaging |
Het |
Pde5a |
T |
A |
3: 122,629,259 (GRCm39) |
F644L |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,592,440 (GRCm39) |
I68T |
probably damaging |
Het |
Pik3r4 |
T |
A |
9: 105,563,349 (GRCm39) |
V1242D |
possibly damaging |
Het |
Ppp6r2 |
G |
T |
15: 89,162,929 (GRCm39) |
W517L |
probably damaging |
Het |
Scrib |
A |
T |
15: 75,933,616 (GRCm39) |
I703K |
probably benign |
Het |
Serpina1b |
T |
C |
12: 103,695,576 (GRCm39) |
S322G |
probably benign |
Het |
Siglecg |
C |
A |
7: 43,058,187 (GRCm39) |
Q25K |
probably benign |
Het |
Slc12a3 |
G |
A |
8: 95,092,447 (GRCm39) |
|
probably null |
Het |
Slc6a13 |
G |
T |
6: 121,302,116 (GRCm39) |
|
probably null |
Het |
Stard13 |
A |
T |
5: 150,986,309 (GRCm39) |
D282E |
probably damaging |
Het |
Tpte |
A |
T |
8: 22,845,489 (GRCm39) |
Y513F |
possibly damaging |
Het |
Ubox5 |
T |
A |
2: 130,442,579 (GRCm39) |
K36I |
possibly damaging |
Het |
|
Other mutations in Brd7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R1659:Brd7
|
UTSW |
8 |
89,060,420 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
Posted On |
2014-05-07 |