Incidental Mutation 'R8164:Brinp1'
ID |
633660 |
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 |
067590-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R8164 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
68679751-68872634 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 68681158 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 457
(Y457*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030036
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030036]
|
AlphaFold |
Q920P3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030036
AA Change: Y457*
|
SMART Domains |
Protein: ENSMUSP00000030036 Gene: ENSMUSG00000028351 AA Change: Y457*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
MACPF
|
72 |
251 |
2.35e-46 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (49/50) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
T |
C |
19: 3,767,454 (GRCm39) |
V347A |
probably benign |
Het |
Abca13 |
A |
T |
11: 9,565,799 (GRCm39) |
I4808F |
probably damaging |
Het |
Acaa2 |
C |
A |
18: 74,928,318 (GRCm39) |
Y182* |
probably null |
Het |
Ankrd44 |
A |
T |
1: 54,703,138 (GRCm39) |
N644K |
probably damaging |
Het |
Aurkaip1 |
T |
A |
4: 155,916,962 (GRCm39) |
M70K |
probably damaging |
Het |
Brox |
A |
T |
1: 183,062,491 (GRCm39) |
C288S |
possibly damaging |
Het |
Ccdc57 |
C |
T |
11: 120,788,788 (GRCm39) |
R353H |
probably benign |
Het |
Cdhr1 |
A |
T |
14: 36,801,499 (GRCm39) |
S815T |
probably damaging |
Het |
Cnih4 |
A |
G |
1: 180,989,691 (GRCm39) |
I101M |
probably damaging |
Het |
Ctsj |
T |
C |
13: 61,150,334 (GRCm39) |
T222A |
probably benign |
Het |
Dab2 |
C |
A |
15: 6,460,449 (GRCm39) |
D452E |
possibly damaging |
Het |
Dnah3 |
A |
G |
7: 119,566,837 (GRCm39) |
I2463T |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,582,794 (GRCm39) |
T326A |
possibly damaging |
Het |
F10 |
A |
G |
8: 13,100,781 (GRCm39) |
T232A |
probably benign |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gcdh |
A |
G |
8: 85,619,181 (GRCm39) |
S128P |
probably damaging |
Het |
Golph3l |
G |
A |
3: 95,524,517 (GRCm39) |
R256Q |
probably benign |
Het |
Igkv2-109 |
A |
G |
6: 68,279,853 (GRCm39) |
T25A |
probably damaging |
Het |
Lcor |
T |
A |
19: 41,573,849 (GRCm39) |
V868D |
probably damaging |
Het |
Lhx9 |
A |
T |
1: 138,760,518 (GRCm39) |
F286L |
probably damaging |
Het |
Lrrtm1 |
A |
T |
6: 77,221,199 (GRCm39) |
N219Y |
probably damaging |
Het |
Mei4 |
A |
G |
9: 81,809,642 (GRCm39) |
K242E |
probably damaging |
Het |
Morc2b |
T |
C |
17: 33,357,014 (GRCm39) |
M253V |
probably damaging |
Het |
Myh14 |
A |
G |
7: 44,274,457 (GRCm39) |
V1277A |
probably benign |
Het |
N4bp2 |
T |
A |
5: 65,966,566 (GRCm39) |
W1335R |
probably damaging |
Het |
Naip6 |
T |
A |
13: 100,452,797 (GRCm39) |
H88L |
probably benign |
Het |
Niban1 |
G |
A |
1: 151,593,339 (GRCm39) |
V675M |
probably benign |
Het |
Nlrp1b |
A |
T |
11: 71,119,243 (GRCm39) |
H17Q |
possibly damaging |
Het |
Or1p1b |
A |
T |
11: 74,130,786 (GRCm39) |
Y132F |
probably damaging |
Het |
P2ry12 |
C |
T |
3: 59,125,037 (GRCm39) |
V213I |
possibly damaging |
Het |
Pcdhb21 |
C |
A |
18: 37,649,057 (GRCm39) |
P729T |
probably benign |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rnf39 |
C |
G |
17: 37,254,292 (GRCm39) |
R105G |
probably damaging |
Het |
Sbk1 |
G |
A |
7: 125,891,711 (GRCm39) |
V382M |
possibly damaging |
Het |
Sbno1 |
T |
C |
5: 124,512,684 (GRCm39) |
T1362A |
probably benign |
Het |
Slc2a13 |
A |
G |
15: 91,160,281 (GRCm39) |
Y558H |
probably damaging |
Het |
Tardbp |
A |
T |
4: 148,703,060 (GRCm39) |
N301K |
probably benign |
Het |
Tet2 |
G |
T |
3: 133,172,895 (GRCm39) |
T1789N |
possibly damaging |
Het |
Tln2 |
G |
A |
9: 67,226,702 (GRCm39) |
A1261V |
probably benign |
Het |
Tmem131l |
A |
T |
3: 83,833,495 (GRCm39) |
Y789* |
probably null |
Het |
Tmprss11c |
T |
A |
5: 86,379,712 (GRCm39) |
I399F |
probably damaging |
Het |
Tnfrsf25 |
C |
T |
4: 152,201,877 (GRCm39) |
T118I |
possibly damaging |
Het |
Trpc4 |
A |
T |
3: 54,223,226 (GRCm39) |
M721L |
probably benign |
Het |
Vav3 |
A |
G |
3: 109,248,368 (GRCm39) |
K5R |
probably benign |
Het |
Wdr24 |
C |
A |
17: 26,044,923 (GRCm39) |
|
probably null |
Het |
Zc3hc1 |
A |
T |
6: 30,390,895 (GRCm39) |
I36K |
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 |
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 |
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 |
PCR Primer
(F):5'- TATCCAGGCGAATCTCATTGC -3'
(R):5'- CACAGGACAATTCAACAGTGGC -3'
Sequencing Primer
(F):5'- CCAGGCGAATCTCATTGCTGATG -3'
(R):5'- CAATTCAACAGTGGCTTGCAAG -3'
|
Posted On |
2020-07-13 |