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) question?
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*

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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