Incidental Mutation 'IGL00552:Serpini1'
ID |
6870 |
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 # |
IGL00552
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
75464800-75549830 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 75548002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 393
(R393*)
|
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 null
Transcript: ENSMUST00000029423
AA Change: R393*
|
SMART Domains |
Protein: ENSMUSP00000029423 Gene: ENSMUSG00000027834 AA Change: R393*
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: 13 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Camta1 |
A |
T |
4: 151,155,881 (GRCm39) |
|
probably null |
Het |
Celsr3 |
A |
T |
9: 108,718,462 (GRCm39) |
N2338Y |
possibly damaging |
Het |
Dnm3 |
A |
G |
1: 161,839,495 (GRCm39) |
V683A |
probably damaging |
Het |
Gm11565 |
T |
C |
11: 99,805,902 (GRCm39) |
L98P |
probably damaging |
Het |
Il21r |
A |
T |
7: 125,231,697 (GRCm39) |
D375V |
probably damaging |
Het |
Oxct2b |
A |
G |
4: 123,011,301 (GRCm39) |
D407G |
probably damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,755,083 (GRCm39) |
Y55H |
probably damaging |
Het |
Rftn1 |
A |
T |
17: 50,362,405 (GRCm39) |
V231E |
probably benign |
Het |
Sumo3 |
T |
A |
10: 77,449,860 (GRCm39) |
I66N |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,705,888 (GRCm39) |
H1525R |
possibly damaging |
Het |
Washc2 |
A |
G |
6: 116,233,785 (GRCm39) |
N937S |
possibly damaging |
Het |
Wdr20 |
A |
T |
12: 110,745,883 (GRCm39) |
K75* |
probably null |
Het |
Zscan20 |
G |
T |
4: 128,480,428 (GRCm39) |
Q688K |
probably damaging |
Het |
|
Other mutations in Serpini1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03232:Serpini1
|
APN |
3 |
75,545,317 (GRCm39) |
splice site |
probably benign |
|
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 |
2012-04-20 |