Incidental Mutation 'IGL03358:Spg21'
ID 420020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spg21
Ensembl Gene ENSMUSG00000032388
Gene Name SPG21, maspardin
Synonyms ACP33, BM-019, D9Wsu18e, GL010
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # IGL03358
Quality Score
Status
Chromosome 9
Chromosomal Location 65368229-65395752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65387698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 164 (V164I)
Ref Sequence ENSEMBL: ENSMUSP00000150034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034955] [ENSMUST00000213957] [ENSMUST00000215170]
AlphaFold Q9CQC8
Predicted Effect probably benign
Transcript: ENSMUST00000034955
AA Change: V164I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000034955
Gene: ENSMUSG00000032388
AA Change: V164I

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
Pfam:Abhydrolase_1 39 171 1.9e-10 PFAM
Pfam:Abhydrolase_5 45 255 4.3e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213957
AA Change: V164I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000215170
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik T C 16: 64,586,909 (GRCm39) I272V possibly damaging Het
4930590J08Rik A G 6: 91,905,716 (GRCm39) N496D probably damaging Het
Adcy2 C T 13: 68,877,396 (GRCm39) G448E probably damaging Het
Alad G A 4: 62,428,844 (GRCm39) probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Appbp2 A T 11: 85,100,860 (GRCm39) M193K probably benign Het
Cd300a G A 11: 114,788,623 (GRCm39) M204I possibly damaging Het
Cep350 T A 1: 155,804,285 (GRCm39) M933L probably benign Het
Cyp2s1 T A 7: 25,507,573 (GRCm39) N292I probably damaging Het
Gnl2 T C 4: 124,946,387 (GRCm39) I536T probably damaging Het
Ift140 C T 17: 25,306,958 (GRCm39) R898C probably damaging Het
Oosp2 A T 19: 11,628,933 (GRCm39) L56* probably null Het
Pars2 A T 4: 106,510,239 (GRCm39) H7L probably benign Het
Pbx4 T C 8: 70,311,761 (GRCm39) S59P probably benign Het
Psg20 G T 7: 18,414,891 (GRCm39) H332N probably benign Het
Rigi T C 4: 40,206,069 (GRCm39) E841G possibly damaging Het
Slc6a13 G A 6: 121,311,495 (GRCm39) V384I probably benign Het
Tnc A T 4: 63,935,852 (GRCm39) C361* probably null Het
Tsr1 T C 11: 74,794,824 (GRCm39) V493A probably benign Het
Ube2u A G 4: 100,404,472 (GRCm39) probably benign Het
Vav3 G A 3: 109,554,989 (GRCm39) G79E probably damaging Het
Vmn1r81 T G 7: 11,994,232 (GRCm39) R125S possibly damaging Het
Vmn2r45 A C 7: 8,474,715 (GRCm39) L771R probably damaging Het
Vps54 T A 11: 21,218,799 (GRCm39) H119Q probably damaging Het
Other mutations in Spg21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03130:Spg21 APN 9 65,380,990 (GRCm39) missense probably benign 0.01
R0277:Spg21 UTSW 9 65,372,629 (GRCm39) missense possibly damaging 0.92
R1843:Spg21 UTSW 9 65,372,618 (GRCm39) missense probably damaging 0.99
R1920:Spg21 UTSW 9 65,391,779 (GRCm39) missense probably damaging 1.00
R1959:Spg21 UTSW 9 65,391,774 (GRCm39) missense probably damaging 1.00
R2110:Spg21 UTSW 9 65,391,711 (GRCm39) splice site probably null
R2328:Spg21 UTSW 9 65,394,155 (GRCm39) missense possibly damaging 0.83
R4600:Spg21 UTSW 9 65,383,257 (GRCm39) missense probably benign 0.05
R4614:Spg21 UTSW 9 65,387,671 (GRCm39) splice site probably null
R5022:Spg21 UTSW 9 65,383,231 (GRCm39) missense probably damaging 1.00
R5309:Spg21 UTSW 9 65,376,084 (GRCm39) missense probably benign
R5312:Spg21 UTSW 9 65,376,084 (GRCm39) missense probably benign
R6179:Spg21 UTSW 9 65,376,090 (GRCm39) missense possibly damaging 0.86
Posted On 2016-08-02