Incidental Mutation 'R6704:Serpini1'
| ID |
528850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpini1
|
| Ensembl Gene |
ENSMUSG00000027834 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade I, member 1 |
| Synonyms |
PI12, Spi17, Neuroserpin, Ns |
| MMRRC Submission |
044822-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R6704 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
75464800-75549830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75545255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 337
(V337A)
|
| 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 damaging
Transcript: ENSMUST00000029423
AA Change: V337A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029423
Gene: ENSMUSG00000027834
AA Change: V337A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
|
SERPIN
|
31 |
397 |
1.46e-158 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
T |
C |
12: 8,060,379 (GRCm39) |
S2921P |
probably damaging |
Het |
| Asxl3 |
G |
A |
18: 22,650,362 (GRCm39) |
A784T |
probably benign |
Het |
| Atm |
T |
C |
9: 53,370,153 (GRCm39) |
I2320V |
probably benign |
Het |
| Ccdc152 |
T |
A |
15: 3,310,195 (GRCm39) |
I227F |
probably damaging |
Het |
| Cd109 |
T |
C |
9: 78,587,357 (GRCm39) |
V675A |
probably benign |
Het |
| Col3a1 |
T |
C |
1: 45,386,892 (GRCm39) |
Y235H |
probably damaging |
Het |
| Dnmbp |
T |
C |
19: 43,889,652 (GRCm39) |
D705G |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ermn |
T |
C |
2: 57,938,046 (GRCm39) |
D189G |
possibly damaging |
Het |
| Evx2 |
C |
A |
2: 74,486,499 (GRCm39) |
A297S |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,477,410 (GRCm39) |
F2152S |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,990,642 (GRCm39) |
V1018A |
unknown |
Het |
| Hyou1 |
T |
C |
9: 44,292,431 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
G |
A |
14: 24,052,882 (GRCm39) |
Q187* |
probably null |
Het |
| Macf1 |
C |
T |
4: 123,304,555 (GRCm39) |
|
probably benign |
Het |
| Mcam |
T |
A |
9: 44,048,217 (GRCm39) |
D124E |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,986,761 (GRCm39) |
|
probably benign |
Het |
| Mlxipl |
A |
T |
5: 135,166,094 (GRCm39) |
|
probably null |
Het |
| Myt1 |
A |
G |
2: 181,453,005 (GRCm39) |
M1V |
probably null |
Het |
| Nlrc3 |
C |
T |
16: 3,782,945 (GRCm39) |
V155I |
probably damaging |
Het |
| Nlrp2 |
A |
C |
7: 5,328,040 (GRCm39) |
L671* |
probably null |
Het |
| Omd |
A |
G |
13: 49,743,349 (GRCm39) |
D133G |
probably damaging |
Het |
| Or5h19 |
T |
C |
16: 58,856,225 (GRCm39) |
R292G |
probably damaging |
Het |
| Or9r7 |
T |
A |
10: 129,962,024 (GRCm39) |
K301* |
probably null |
Het |
| Pappa |
G |
A |
4: 65,123,161 (GRCm39) |
C832Y |
probably damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,736,515 (GRCm39) |
V174E |
possibly damaging |
Het |
| Pfkl |
C |
T |
10: 77,832,200 (GRCm39) |
G297D |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,511,910 (GRCm39) |
L882P |
probably damaging |
Het |
| Ptchd4 |
A |
G |
17: 42,627,931 (GRCm39) |
T131A |
probably benign |
Het |
| Rad50 |
T |
C |
11: 53,589,745 (GRCm39) |
N152S |
probably damaging |
Het |
| Ruvbl1 |
T |
A |
6: 88,456,187 (GRCm39) |
M147K |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,479,856 (GRCm39) |
I277N |
probably damaging |
Het |
| Tmem131 |
A |
G |
1: 36,835,261 (GRCm39) |
V1620A |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,282,259 (GRCm39) |
E248G |
possibly damaging |
Het |
| Ugt2b36 |
C |
A |
5: 87,239,990 (GRCm39) |
V132F |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,621,035 (GRCm39) |
E212G |
probably damaging |
Het |
| Zc2hc1c |
A |
T |
12: 85,337,258 (GRCm39) |
Q305L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCACACCATTGCTAGTTCTC -3'
(R):5'- CTGGCTGCTTTAAAATCTGCTTG -3'
Sequencing Primer
(F):5'- CCTGTGCCGTAAGTAAAATCTGTC -3'
(R):5'- CTGACTTGGAAAACAGTGGCCTC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation