Incidental Mutation 'IGL03256:Serpini1'
ID |
414671 |
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 # |
IGL03256
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
75464800-75549830 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75526481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 244
(I244M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029423
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029423]
[ENSMUST00000161776]
|
AlphaFold |
O35684 |
PDB Structure |
Crystal Structure of Mouse Neuroserpin (Cleaved form) [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000029423
AA Change: I244M
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000029423 Gene: ENSMUSG00000027834 AA Change: I244M
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
SERPIN
|
31 |
397 |
1.46e-158 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161695
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161776
|
SMART Domains |
Protein: ENSMUSP00000123845 Gene: ENSMUSG00000027834
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
SERPIN
|
31 |
207 |
1.15e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192682
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
C |
T |
8: 73,199,043 (GRCm39) |
T150I |
probably benign |
Het |
Adam2 |
T |
C |
14: 66,291,280 (GRCm39) |
N333D |
probably benign |
Het |
Aifm3 |
G |
A |
16: 17,324,174 (GRCm39) |
R578Q |
probably benign |
Het |
Arid2 |
C |
A |
15: 96,268,643 (GRCm39) |
Q919K |
probably benign |
Het |
Atp6v1a |
T |
C |
16: 43,931,451 (GRCm39) |
|
probably benign |
Het |
Bicd1 |
A |
T |
6: 149,415,083 (GRCm39) |
T599S |
probably benign |
Het |
Bltp1 |
T |
C |
3: 36,960,832 (GRCm39) |
|
probably benign |
Het |
Catsperg2 |
T |
A |
7: 29,409,299 (GRCm39) |
R601W |
probably damaging |
Het |
Clca3a2 |
A |
C |
3: 144,792,153 (GRCm39) |
S369R |
possibly damaging |
Het |
Cyfip1 |
T |
G |
7: 55,557,182 (GRCm39) |
V795G |
possibly damaging |
Het |
Ddb1 |
A |
G |
19: 10,599,225 (GRCm39) |
T544A |
probably benign |
Het |
Defb43 |
T |
C |
14: 63,255,329 (GRCm39) |
I54T |
probably damaging |
Het |
Dera |
A |
G |
6: 137,756,643 (GRCm39) |
M89V |
probably benign |
Het |
Fam227b |
T |
A |
2: 125,830,923 (GRCm39) |
K427I |
probably damaging |
Het |
Frk |
A |
G |
10: 34,483,838 (GRCm39) |
I400V |
probably benign |
Het |
Gk5 |
T |
A |
9: 96,011,106 (GRCm39) |
L72H |
probably damaging |
Het |
Gprc6a |
T |
A |
10: 51,504,445 (GRCm39) |
Y133F |
possibly damaging |
Het |
Hecw1 |
A |
G |
13: 14,455,069 (GRCm39) |
L662P |
probably damaging |
Het |
Hecw1 |
G |
T |
13: 14,455,070 (GRCm39) |
L662M |
probably benign |
Het |
Il12b |
T |
A |
11: 44,298,757 (GRCm39) |
S71T |
probably benign |
Het |
Kdm2a |
A |
T |
19: 4,395,538 (GRCm39) |
|
probably benign |
Het |
Lhfpl6 |
A |
G |
3: 52,950,974 (GRCm39) |
R83G |
possibly damaging |
Het |
Magel2 |
C |
A |
7: 62,030,162 (GRCm39) |
T1022K |
unknown |
Het |
Mycbp2 |
C |
A |
14: 103,426,025 (GRCm39) |
V2367F |
possibly damaging |
Het |
Nap1l3 |
C |
T |
X: 121,305,905 (GRCm39) |
G271D |
probably benign |
Het |
Nars2 |
T |
A |
7: 96,689,117 (GRCm39) |
D346E |
possibly damaging |
Het |
Nek11 |
T |
A |
9: 105,121,613 (GRCm39) |
E435D |
probably damaging |
Het |
Nfam1 |
C |
T |
15: 82,894,611 (GRCm39) |
G205R |
probably benign |
Het |
Or10aa1 |
T |
C |
1: 173,869,774 (GRCm39) |
L86P |
probably damaging |
Het |
Or1e35 |
A |
T |
11: 73,797,522 (GRCm39) |
N265K |
probably benign |
Het |
Or5b118 |
T |
A |
19: 13,448,631 (GRCm39) |
M99K |
probably damaging |
Het |
Otud3 |
G |
A |
4: 138,636,928 (GRCm39) |
R78W |
probably damaging |
Het |
Oxct2a |
C |
T |
4: 123,216,758 (GRCm39) |
A208T |
probably damaging |
Het |
Pcdh11x |
A |
T |
X: 119,310,607 (GRCm39) |
E683D |
probably benign |
Het |
Phtf2 |
C |
A |
5: 21,008,250 (GRCm39) |
V144L |
probably damaging |
Het |
Pkn2 |
T |
C |
3: 142,509,311 (GRCm39) |
|
probably null |
Het |
Puf60 |
T |
A |
15: 75,942,445 (GRCm39) |
D459V |
possibly damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,302,632 (GRCm39) |
|
probably null |
Het |
Rapgef6 |
A |
C |
11: 54,548,255 (GRCm39) |
Q813P |
probably damaging |
Het |
Rsf1 |
A |
T |
7: 97,328,211 (GRCm39) |
D1071V |
possibly damaging |
Het |
Sctr |
T |
C |
1: 119,959,289 (GRCm39) |
|
probably benign |
Het |
Tada2a |
C |
A |
11: 83,978,018 (GRCm39) |
|
probably benign |
Het |
Tada3 |
A |
T |
6: 113,352,092 (GRCm39) |
H112Q |
possibly damaging |
Het |
Tnxb |
T |
A |
17: 34,907,694 (GRCm39) |
L1246Q |
probably damaging |
Het |
Txndc16 |
T |
C |
14: 45,389,353 (GRCm39) |
N449S |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,370,090 (GRCm39) |
Y1771* |
probably null |
Het |
Vav2 |
A |
T |
2: 27,161,912 (GRCm39) |
|
probably null |
Het |
Virma |
T |
C |
4: 11,542,207 (GRCm39) |
|
probably benign |
Het |
Vmn1r78 |
T |
A |
7: 11,886,725 (GRCm39) |
I112N |
probably damaging |
Het |
Vnn3 |
A |
T |
10: 23,727,698 (GRCm39) |
|
probably benign |
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 |
IGL03232:Serpini1
|
APN |
3 |
75,545,317 (GRCm39) |
splice site |
probably benign |
|
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 |