Incidental Mutation 'IGL01461:Brd9'
| ID |
87987 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Brd9
|
| Ensembl Gene |
ENSMUSG00000057649 |
| Gene Name |
bromodomain containing 9 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01461
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
74085930-74109014 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 74099717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 445
(Q445*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099384]
[ENSMUST00000222399]
[ENSMUST00000223238]
|
| AlphaFold |
Q3UQU0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099384
AA Change: Q446*
|
| SMART Domains |
Protein: ENSMUSP00000096982
Gene: ENSMUSG00000057649
AA Change: Q446*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
coiled coil region
|
53 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
127 |
N/A |
INTRINSIC |
|
BROMO
|
134 |
242 |
1.52e-30 |
SMART |
|
low complexity region
|
249 |
264 |
N/A |
INTRINSIC |
|
Pfam:DUF3512
|
274 |
505 |
1.6e-82 |
PFAM |
|
low complexity region
|
544 |
557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220488
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222191
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222399
AA Change: Q445*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223238
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223446
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223525
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223455
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,429,214 (GRCm39) |
F767S |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,051,884 (GRCm39) |
M1137L |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,244,926 (GRCm39) |
T990A |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,293 (GRCm39) |
L1513S |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,142,480 (GRCm39) |
K56R |
probably damaging |
Het |
| Cryaa |
A |
G |
17: 31,900,000 (GRCm39) |
Y118C |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,278,729 (GRCm39) |
T378A |
possibly damaging |
Het |
| E330020D12Rik |
A |
G |
1: 153,284,105 (GRCm39) |
|
noncoding transcript |
Het |
| F7 |
A |
G |
8: 13,082,245 (GRCm39) |
D145G |
possibly damaging |
Het |
| Flvcr2 |
A |
G |
12: 85,849,905 (GRCm39) |
|
probably benign |
Het |
| Hltf |
A |
T |
3: 20,154,103 (GRCm39) |
K680* |
probably null |
Het |
| Ing1 |
T |
G |
8: 11,611,453 (GRCm39) |
F22V |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,165,945 (GRCm39) |
D330G |
probably damaging |
Het |
| Itgax |
G |
T |
7: 127,734,190 (GRCm39) |
D321Y |
probably damaging |
Het |
| Kel |
A |
C |
6: 41,678,845 (GRCm39) |
|
probably null |
Het |
| Marchf10 |
T |
C |
11: 105,280,431 (GRCm39) |
K618R |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,890,576 (GRCm39) |
M925L |
probably damaging |
Het |
| Miga1 |
C |
T |
3: 152,040,934 (GRCm39) |
E78K |
probably damaging |
Het |
| Or4c106 |
G |
T |
2: 88,682,669 (GRCm39) |
C125F |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,695,245 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
T |
C |
15: 85,704,575 (GRCm39) |
I454V |
possibly damaging |
Het |
| Poglut2 |
T |
C |
1: 44,150,094 (GRCm39) |
Q365R |
probably damaging |
Het |
| Prpf6 |
C |
A |
2: 181,273,304 (GRCm39) |
T283N |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,106,643 (GRCm39) |
H197R |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,233,013 (GRCm39) |
|
probably benign |
Het |
| Smpd4 |
A |
C |
16: 17,439,370 (GRCm39) |
Q7P |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,094 (GRCm39) |
I248K |
possibly damaging |
Het |
|
| Other mutations in Brd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Brd9
|
APN |
13 |
74,086,666 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01928:Brd9
|
APN |
13 |
74,103,630 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0379:Brd9
|
UTSW |
13 |
74,090,802 (GRCm39) |
splice site |
probably benign |
|
|
R0420:Brd9
|
UTSW |
13 |
74,103,592 (GRCm39) |
missense |
probably benign |
|
|
R0788:Brd9
|
UTSW |
13 |
74,092,986 (GRCm39) |
splice site |
probably benign |
|
|
R1539:Brd9
|
UTSW |
13 |
74,092,862 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4095:Brd9
|
UTSW |
13 |
74,092,918 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4582:Brd9
|
UTSW |
13 |
74,095,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4648:Brd9
|
UTSW |
13 |
74,088,895 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4915:Brd9
|
UTSW |
13 |
74,086,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6054:Brd9
|
UTSW |
13 |
74,088,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6175:Brd9
|
UTSW |
13 |
74,108,433 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6462:Brd9
|
UTSW |
13 |
74,088,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Brd9
|
UTSW |
13 |
74,090,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7217:Brd9
|
UTSW |
13 |
74,087,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7360:Brd9
|
UTSW |
13 |
74,092,942 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7422:Brd9
|
UTSW |
13 |
74,102,697 (GRCm39) |
missense |
probably benign |
|
|
R7556:Brd9
|
UTSW |
13 |
74,092,886 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7844:Brd9
|
UTSW |
13 |
74,086,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9130:Brd9
|
UTSW |
13 |
74,092,906 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Brd9
|
UTSW |
13 |
74,092,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-11-18 |
Incidental Mutation