Incidental Mutation 'R3780:Serpini1'
ID |
271996 |
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 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.100)
|
Stock # |
R3780 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
75464800-75549830 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 75521942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 144
(N144K)
|
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: N144K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000029423 Gene: ENSMUSG00000027834 AA Change: N144K
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: N144K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000123845 Gene: ENSMUSG00000027834 AA Change: N144K
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 |
0.2621 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
93% (40/43) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
G |
T |
7: 29,260,263 (GRCm39) |
|
noncoding transcript |
Het |
Adam21 |
C |
T |
12: 81,606,047 (GRCm39) |
V572I |
probably damaging |
Het |
Arhgap32 |
T |
A |
9: 32,063,315 (GRCm39) |
|
probably null |
Het |
Carmil1 |
A |
T |
13: 24,321,152 (GRCm39) |
I281N |
probably damaging |
Het |
Cdh12 |
T |
A |
15: 21,586,063 (GRCm39) |
|
probably null |
Het |
Cdh20 |
T |
A |
1: 109,976,734 (GRCm39) |
V133E |
probably benign |
Het |
Cntrob |
A |
G |
11: 69,193,708 (GRCm39) |
L814P |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,252,000 (GRCm39) |
N952S |
probably damaging |
Het |
Cspg4 |
A |
G |
9: 56,795,517 (GRCm39) |
Y1084C |
probably damaging |
Het |
Dlg5 |
A |
G |
14: 24,240,378 (GRCm39) |
|
probably benign |
Het |
Glis2 |
T |
C |
16: 4,431,760 (GRCm39) |
|
probably benign |
Het |
Hif3a |
T |
C |
7: 16,788,638 (GRCm39) |
E111G |
probably damaging |
Het |
Kctd4 |
A |
G |
14: 76,200,251 (GRCm39) |
D74G |
probably benign |
Het |
Kif21b |
A |
T |
1: 136,083,964 (GRCm39) |
K737M |
probably damaging |
Het |
Ktn1 |
G |
A |
14: 47,943,860 (GRCm39) |
|
probably benign |
Het |
Lama2 |
A |
T |
10: 27,335,335 (GRCm39) |
N113K |
probably damaging |
Het |
Ltv1 |
A |
G |
10: 13,054,944 (GRCm39) |
S409P |
probably benign |
Het |
Mgat4c |
A |
G |
10: 102,224,782 (GRCm39) |
E332G |
probably benign |
Het |
Myh6 |
A |
G |
14: 55,201,415 (GRCm39) |
F95L |
probably benign |
Het |
Ndufa4l2 |
A |
G |
10: 127,351,289 (GRCm39) |
I27V |
probably benign |
Het |
Npepl1 |
T |
G |
2: 173,962,447 (GRCm39) |
L371R |
probably damaging |
Het |
Nudt9 |
A |
G |
5: 104,194,972 (GRCm39) |
T23A |
probably benign |
Het |
Ocrl |
G |
A |
X: 47,027,180 (GRCm39) |
V416I |
probably benign |
Het |
Or2g1 |
T |
G |
17: 38,106,895 (GRCm39) |
C187G |
probably damaging |
Het |
Padi2 |
C |
T |
4: 140,645,048 (GRCm39) |
T94I |
probably benign |
Het |
Pcca |
G |
A |
14: 122,922,297 (GRCm39) |
E353K |
probably damaging |
Het |
Pcdhgb2 |
T |
A |
18: 37,824,810 (GRCm39) |
N600K |
probably damaging |
Het |
Pex5l |
A |
G |
3: 33,004,993 (GRCm39) |
L593P |
probably damaging |
Het |
Rbp2 |
G |
A |
9: 98,380,879 (GRCm39) |
D62N |
probably benign |
Het |
Rock1 |
G |
T |
18: 10,067,575 (GRCm39) |
N1319K |
probably benign |
Het |
Ror1 |
A |
C |
4: 100,269,314 (GRCm39) |
D384A |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Sacm1l |
A |
T |
9: 123,381,855 (GRCm39) |
E152D |
probably benign |
Het |
Seh1l |
T |
C |
18: 67,908,087 (GRCm39) |
V3A |
probably benign |
Het |
Serpinb6d |
T |
A |
13: 33,848,097 (GRCm39) |
D20E |
probably benign |
Het |
Slc22a23 |
G |
A |
13: 34,528,323 (GRCm39) |
T153I |
probably benign |
Het |
Slfn8 |
A |
G |
11: 82,908,280 (GRCm39) |
S88P |
probably benign |
Het |
Stpg3 |
T |
A |
2: 25,103,875 (GRCm39) |
M154L |
probably benign |
Het |
Vmn2r115 |
G |
A |
17: 23,564,146 (GRCm39) |
C106Y |
probably damaging |
Het |
Washc3 |
C |
T |
10: 88,055,122 (GRCm39) |
T112M |
probably benign |
Het |
Zfp280d |
C |
T |
9: 72,229,806 (GRCm39) |
T346M |
probably 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 |
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'- CTTTGTCATCTTGCAGGTGAAG -3'
(R):5'- TGAGGGCTTTCCACAACCAG -3'
Sequencing Primer
(F):5'- GTCATCTTGCAGGTGAAGAATTTTC -3'
(R):5'- GGGCTTTCCACAACCAGAGAAC -3'
|
Posted On |
2015-03-25 |