Incidental Mutation 'IGL03232:Serpini1'
ID |
413950 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpini1
|
Ensembl Gene |
ENSMUSG00000027834 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade I, member 1 |
Synonyms |
PI12, Spi17, Neuroserpin, Ns |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
IGL03232
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
75464800-75549830 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 75545317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029423
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029423]
|
AlphaFold |
O35684 |
PDB Structure |
Crystal Structure of Mouse Neuroserpin (Cleaved form) [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000029423
|
SMART Domains |
Protein: ENSMUSP00000029423 Gene: ENSMUSG00000027834
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
SERPIN
|
31 |
397 |
1.46e-158 |
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 member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a disruption in this gene show no change in brain morphology or histology. However, they show an increase avoidance of novel stimuli and increased anxiety responses in some situations. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c19 |
A |
G |
13: 4,288,462 (GRCm39) |
T147A |
probably damaging |
Het |
Bdp1 |
A |
G |
13: 100,187,989 (GRCm39) |
L1532S |
probably damaging |
Het |
Btbd3 |
G |
A |
2: 138,126,063 (GRCm39) |
A416T |
probably damaging |
Het |
Cacna1e |
C |
T |
1: 154,369,104 (GRCm39) |
R311H |
probably damaging |
Het |
Cers2 |
T |
G |
3: 95,227,468 (GRCm39) |
V32G |
probably damaging |
Het |
Cimip2a |
A |
T |
2: 25,111,751 (GRCm39) |
R277* |
probably null |
Het |
Cog4 |
A |
G |
8: 111,607,314 (GRCm39) |
|
probably null |
Het |
Crybg3 |
C |
A |
16: 59,350,731 (GRCm39) |
G870C |
probably damaging |
Het |
Dmxl1 |
C |
T |
18: 50,011,247 (GRCm39) |
H1135Y |
probably benign |
Het |
Esr1 |
A |
C |
10: 4,919,270 (GRCm39) |
K453N |
probably damaging |
Het |
Gprc5d |
T |
C |
6: 135,093,662 (GRCm39) |
I82V |
probably benign |
Het |
H3c3 |
T |
G |
13: 23,929,164 (GRCm39) |
E106A |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,646,103 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,496,446 (GRCm39) |
T17A |
probably damaging |
Het |
Lrp1 |
C |
T |
10: 127,375,245 (GRCm39) |
A4452T |
probably damaging |
Het |
Morc1 |
A |
G |
16: 48,451,165 (GRCm39) |
E948G |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,855,494 (GRCm39) |
K943E |
probably benign |
Het |
Or5b109 |
T |
A |
19: 13,212,341 (GRCm39) |
C242* |
probably null |
Het |
Or5b12b |
C |
A |
19: 12,861,636 (GRCm39) |
Y130* |
probably null |
Het |
Or5p73 |
A |
G |
7: 108,064,812 (GRCm39) |
T94A |
probably benign |
Het |
Rab21 |
T |
C |
10: 115,130,767 (GRCm39) |
|
probably benign |
Het |
Selenoi |
T |
C |
5: 30,461,259 (GRCm39) |
F140S |
probably damaging |
Het |
Sgip1 |
T |
C |
4: 102,772,251 (GRCm39) |
|
probably benign |
Het |
Smc1b |
T |
C |
15: 85,013,921 (GRCm39) |
I83M |
possibly damaging |
Het |
Smg7 |
T |
C |
1: 152,715,907 (GRCm39) |
Y1061C |
probably damaging |
Het |
Thbs2 |
A |
T |
17: 14,911,675 (GRCm39) |
M1K |
probably null |
Het |
Ubqlnl |
A |
G |
7: 103,797,836 (GRCm39) |
S554P |
possibly damaging |
Het |
|
Other mutations in Serpini1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00552:Serpini1
|
APN |
3 |
75,548,002 (GRCm39) |
nonsense |
probably null |
|
IGL02131:Serpini1
|
APN |
3 |
75,548,011 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02265:Serpini1
|
APN |
3 |
75,526,576 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03151:Serpini1
|
APN |
3 |
75,520,603 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03256:Serpini1
|
APN |
3 |
75,526,481 (GRCm39) |
missense |
probably benign |
0.04 |
R0021:Serpini1
|
UTSW |
3 |
75,526,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R0021:Serpini1
|
UTSW |
3 |
75,526,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R0449:Serpini1
|
UTSW |
3 |
75,520,648 (GRCm39) |
missense |
probably benign |
0.06 |
R0941:Serpini1
|
UTSW |
3 |
75,523,934 (GRCm39) |
missense |
probably damaging |
0.97 |
R1641:Serpini1
|
UTSW |
3 |
75,521,977 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1968:Serpini1
|
UTSW |
3 |
75,521,785 (GRCm39) |
missense |
probably benign |
0.34 |
R1993:Serpini1
|
UTSW |
3 |
75,521,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R2159:Serpini1
|
UTSW |
3 |
75,531,251 (GRCm39) |
missense |
probably benign |
0.06 |
R3418:Serpini1
|
UTSW |
3 |
75,547,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R3419:Serpini1
|
UTSW |
3 |
75,547,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R3780:Serpini1
|
UTSW |
3 |
75,521,942 (GRCm39) |
missense |
probably damaging |
0.96 |
R4618:Serpini1
|
UTSW |
3 |
75,523,883 (GRCm39) |
missense |
probably benign |
0.29 |
R4864:Serpini1
|
UTSW |
3 |
75,520,481 (GRCm39) |
missense |
probably benign |
0.01 |
R4989:Serpini1
|
UTSW |
3 |
75,521,795 (GRCm39) |
missense |
probably benign |
0.07 |
R5080:Serpini1
|
UTSW |
3 |
75,523,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R5324:Serpini1
|
UTSW |
3 |
75,547,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R5767:Serpini1
|
UTSW |
3 |
75,520,388 (GRCm39) |
splice site |
probably benign |
|
R5817:Serpini1
|
UTSW |
3 |
75,520,631 (GRCm39) |
missense |
probably benign |
0.07 |
R5912:Serpini1
|
UTSW |
3 |
75,523,914 (GRCm39) |
missense |
probably benign |
0.04 |
R5944:Serpini1
|
UTSW |
3 |
75,547,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R6704:Serpini1
|
UTSW |
3 |
75,545,255 (GRCm39) |
missense |
probably damaging |
0.96 |
R7716:Serpini1
|
UTSW |
3 |
75,524,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R8696:Serpini1
|
UTSW |
3 |
75,520,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |