Incidental Mutation 'IGL00818:Brinp1'
ID |
10066 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Brinp1
|
Ensembl Gene |
ENSMUSG00000028351 |
Gene Name |
bone morphogenic protein/retinoic acid inducible neural specific 1 |
Synonyms |
Fam5a, Dbc1, Dbccr1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
IGL00818
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
68679751-68872634 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 68681084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 482
(D482V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030036
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030036]
|
AlphaFold |
Q920P3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030036
AA Change: D482V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030036 Gene: ENSMUSG00000028351 AA Change: D482V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
MACPF
|
72 |
251 |
2.35e-46 |
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 is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice show increased adult neurogenesis in the subgranular zone of the dentate gyrus, altered neuronal differentiation in the hippocampus, and behavioral anomalies such as hyperactivity, reduced anxiety-like behaviors, poor social interaction, and a slight deficit in working memory. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
A |
G |
7: 75,259,475 (GRCm39) |
T700A |
probably benign |
Het |
Cmtr2 |
A |
T |
8: 110,949,732 (GRCm39) |
T681S |
probably benign |
Het |
Dcc |
T |
A |
18: 72,088,083 (GRCm39) |
M52L |
probably benign |
Het |
Echdc1 |
A |
G |
10: 29,193,616 (GRCm39) |
I38V |
probably benign |
Het |
Gars1 |
G |
T |
6: 55,027,338 (GRCm39) |
G144V |
probably damaging |
Het |
Gp2 |
T |
C |
7: 119,049,350 (GRCm39) |
T396A |
possibly damaging |
Het |
Gpatch1 |
T |
C |
7: 34,976,238 (GRCm39) |
|
probably null |
Het |
Mfap4 |
A |
T |
11: 61,378,607 (GRCm39) |
Q209L |
possibly damaging |
Het |
Pdcd2l |
A |
T |
7: 33,884,158 (GRCm39) |
M348K |
possibly damaging |
Het |
Prkdc |
A |
T |
16: 15,577,618 (GRCm39) |
T2391S |
possibly damaging |
Het |
Rxrg |
C |
T |
1: 167,454,857 (GRCm39) |
|
probably benign |
Het |
Serpinb2 |
A |
G |
1: 107,452,466 (GRCm39) |
D348G |
probably benign |
Het |
Tbc1d30 |
G |
A |
10: 121,102,729 (GRCm39) |
|
probably benign |
Het |
Tmtc3 |
T |
A |
10: 100,307,342 (GRCm39) |
T221S |
probably benign |
Het |
Tro |
C |
T |
X: 149,431,357 (GRCm39) |
G1203D |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,552,092 (GRCm39) |
T31182S |
probably damaging |
Het |
Zranb3 |
T |
C |
1: 127,960,604 (GRCm39) |
Y220C |
probably damaging |
Het |
|
Other mutations in Brinp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01024:Brinp1
|
APN |
4 |
68,680,731 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02048:Brinp1
|
APN |
4 |
68,681,379 (GRCm39) |
missense |
probably benign |
|
IGL02115:Brinp1
|
APN |
4 |
68,680,635 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02332:Brinp1
|
APN |
4 |
68,823,121 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03115:Brinp1
|
APN |
4 |
68,822,973 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02796:Brinp1
|
UTSW |
4 |
68,680,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R0382:Brinp1
|
UTSW |
4 |
68,680,545 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0468:Brinp1
|
UTSW |
4 |
68,681,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R1141:Brinp1
|
UTSW |
4 |
68,711,215 (GRCm39) |
missense |
probably benign |
0.00 |
R1164:Brinp1
|
UTSW |
4 |
68,716,928 (GRCm39) |
missense |
probably benign |
|
R1178:Brinp1
|
UTSW |
4 |
68,680,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R1545:Brinp1
|
UTSW |
4 |
68,681,192 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1672:Brinp1
|
UTSW |
4 |
68,747,520 (GRCm39) |
splice site |
probably null |
|
R1998:Brinp1
|
UTSW |
4 |
68,680,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R2218:Brinp1
|
UTSW |
4 |
68,680,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R2262:Brinp1
|
UTSW |
4 |
68,747,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R2370:Brinp1
|
UTSW |
4 |
68,681,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R4542:Brinp1
|
UTSW |
4 |
68,680,329 (GRCm39) |
missense |
probably benign |
0.00 |
R4617:Brinp1
|
UTSW |
4 |
68,681,198 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4864:Brinp1
|
UTSW |
4 |
68,717,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R5287:Brinp1
|
UTSW |
4 |
68,711,201 (GRCm39) |
missense |
probably benign |
0.04 |
R5403:Brinp1
|
UTSW |
4 |
68,711,201 (GRCm39) |
missense |
probably benign |
0.04 |
R5932:Brinp1
|
UTSW |
4 |
68,711,178 (GRCm39) |
missense |
probably benign |
0.00 |
R7106:Brinp1
|
UTSW |
4 |
68,747,615 (GRCm39) |
missense |
probably benign |
0.36 |
R7127:Brinp1
|
UTSW |
4 |
68,711,260 (GRCm39) |
missense |
probably benign |
0.00 |
R7398:Brinp1
|
UTSW |
4 |
68,759,591 (GRCm39) |
missense |
probably benign |
|
R7917:Brinp1
|
UTSW |
4 |
68,823,190 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
R8164:Brinp1
|
UTSW |
4 |
68,681,158 (GRCm39) |
nonsense |
probably null |
|
R8369:Brinp1
|
UTSW |
4 |
68,716,936 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8487:Brinp1
|
UTSW |
4 |
68,747,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R9124:Brinp1
|
UTSW |
4 |
68,747,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R9253:Brinp1
|
UTSW |
4 |
68,711,083 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1176:Brinp1
|
UTSW |
4 |
68,716,988 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-12-06 |