Incidental Mutation 'R1141:Brinp1'
| ID |
102093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brinp1
|
| Ensembl Gene |
ENSMUSG00000028351 |
| Gene Name |
bone morphogenic protein/retinoic acid inducible neural specific 1 |
| Synonyms |
Fam5a, Dbc1, Dbccr1 |
| MMRRC Submission |
039214-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R1141 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
68679751-68872634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68711215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 331
(H331R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030036]
|
| AlphaFold |
Q920P3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030036
AA Change: H331R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000030036
Gene: ENSMUSG00000028351
AA Change: H331R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
MACPF
|
72 |
251 |
2.35e-46 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156773
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.0%
- 10x: 94.1%
- 20x: 84.2%
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
A |
6: 86,942,458 (GRCm39) |
|
probably null |
Het |
| Asap2 |
A |
G |
12: 21,235,111 (GRCm39) |
N71S |
probably damaging |
Het |
| Brinp2 |
C |
A |
1: 158,074,840 (GRCm39) |
C427F |
probably damaging |
Het |
| Ccr6 |
A |
G |
17: 8,474,834 (GRCm39) |
Y13C |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,637,961 (GRCm39) |
D187G |
probably damaging |
Het |
| Clcn6 |
T |
G |
4: 148,098,356 (GRCm39) |
T556P |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,227,777 (GRCm39) |
Q1968L |
possibly damaging |
Het |
| Elavl4 |
G |
A |
4: 110,108,565 (GRCm39) |
Q53* |
probably null |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gli2 |
T |
C |
1: 118,765,667 (GRCm39) |
H828R |
possibly damaging |
Het |
| Gpr108 |
A |
G |
17: 57,544,219 (GRCm39) |
V397A |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,526,865 (GRCm39) |
I2241T |
probably damaging |
Het |
| Map3k21 |
G |
A |
8: 126,668,471 (GRCm39) |
V686M |
probably benign |
Het |
| Nfatc4 |
A |
T |
14: 56,070,088 (GRCm39) |
E752V |
probably damaging |
Het |
| R3hdm1 |
G |
A |
1: 128,159,142 (GRCm39) |
R939H |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,326,809 (GRCm39) |
T1599A |
probably benign |
Het |
| Sft2d1rt |
G |
A |
11: 45,942,781 (GRCm39) |
A114V |
possibly damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,336,077 (GRCm39) |
F73S |
possibly damaging |
Het |
| Sppl3 |
TGG |
TG |
5: 115,226,352 (GRCm39) |
|
probably null |
Het |
| Stx1b |
T |
C |
7: 127,410,098 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
| Trim24 |
C |
T |
6: 37,892,228 (GRCm39) |
H254Y |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,637,332 (GRCm39) |
L42P |
probably damaging |
Het |
| Vmn2r53 |
G |
A |
7: 12,334,673 (GRCm39) |
T329I |
possibly damaging |
Het |
| Zfp174 |
T |
A |
16: 3,667,321 (GRCm39) |
I170N |
probably benign |
Het |
| Zfp455 |
T |
A |
13: 67,346,655 (GRCm39) |
L22Q |
probably damaging |
Het |
|
| Other mutations in Brinp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00818:Brinp1
|
APN |
4 |
68,681,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation