Incidental Mutation 'R0941:Serpini1'
| ID |
82573 |
| 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 |
039080-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R0941 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
75464800-75549830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75523934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 181
(I181F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029423]
[ENSMUST00000161776]
|
| AlphaFold |
O35684 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029423
AA Change: I181F
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029423
Gene: ENSMUSG00000027834
AA Change: I181F
| 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 damaging
Transcript: ENSMUST00000161776
AA Change: I181F
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123845
Gene: ENSMUSG00000027834
AA Change: I181F
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195285
|
| Meta Mutation Damage Score |
0.5897 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (36/37) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
G |
T |
18: 74,931,414 (GRCm39) |
M203I |
probably benign |
Het |
| Afmid |
T |
A |
11: 117,726,071 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,987,278 (GRCm39) |
D2854G |
probably damaging |
Het |
| Amotl1 |
A |
C |
9: 14,507,854 (GRCm39) |
I31S |
possibly damaging |
Het |
| Arf3 |
A |
G |
15: 98,638,984 (GRCm39) |
V91A |
probably benign |
Het |
| Atp1b1 |
A |
C |
1: 164,270,829 (GRCm39) |
I50S |
probably benign |
Het |
| Baz1a |
A |
T |
12: 54,945,216 (GRCm39) |
S1380T |
probably benign |
Het |
| C4b |
T |
A |
17: 34,959,029 (GRCm39) |
T467S |
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,635,848 (GRCm39) |
S640P |
probably damaging |
Het |
| Col4a1 |
C |
T |
8: 11,258,296 (GRCm39) |
G1396S |
unknown |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
G |
T |
3: 85,580,366 (GRCm39) |
P613Q |
probably benign |
Het |
| Gm12695 |
C |
A |
4: 96,616,454 (GRCm39) |
E460* |
probably null |
Het |
| Gnmt |
A |
G |
17: 47,037,271 (GRCm39) |
L171P |
probably damaging |
Het |
| Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
| Igsf8 |
C |
T |
1: 172,143,963 (GRCm39) |
R39C |
probably damaging |
Het |
| Kdm3b |
T |
A |
18: 34,936,605 (GRCm39) |
C296S |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,082,860 (GRCm39) |
P1373S |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,208,020 (GRCm39) |
L89P |
possibly damaging |
Het |
| Ltc4s |
T |
G |
11: 50,128,269 (GRCm39) |
|
probably null |
Het |
| Met |
A |
T |
6: 17,491,393 (GRCm39) |
I52F |
probably damaging |
Het |
| Mterf2 |
G |
A |
10: 84,955,934 (GRCm39) |
T230M |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,156,311 (GRCm39) |
K834R |
probably benign |
Het |
| Npr1 |
A |
T |
3: 90,368,716 (GRCm39) |
I448N |
probably benign |
Het |
| Or52u1 |
C |
T |
7: 104,237,545 (GRCm39) |
T178I |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Shc3 |
T |
C |
13: 51,634,242 (GRCm39) |
M88V |
probably benign |
Het |
| Skint6 |
T |
A |
4: 113,095,555 (GRCm39) |
S35C |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,072,771 (GRCm39) |
|
probably benign |
Het |
| Sult2a2 |
C |
T |
7: 13,468,815 (GRCm39) |
R94* |
probably null |
Het |
| Trim9 |
A |
G |
12: 70,295,037 (GRCm39) |
V787A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,549,367 (GRCm39) |
V31770A |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,249,055 (GRCm39) |
N337D |
possibly damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,624,000 (GRCm39) |
Y107N |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAATTTGCCAAGGAACTTGTGAAGG -3'
(R):5'- GTGACAAGCCTCTGGAAATACAGCC -3'
Sequencing Primer
(F):5'- GCACTTCCTTTAGAAGTAAGGCAC -3'
(R):5'- TATATCCACAAGGAGTTGAAGCC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation