Incidental Mutation 'IGL03358:Spg21'
ID420020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spg21
Ensembl Gene ENSMUSG00000032388
Gene NameSPG21, maspardin
SynonymsD9Wsu18e, BM-019, GL010, ACP33
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.220) question?
Stock #IGL03358
Quality Score
Status
Chromosome9
Chromosomal Location65460947-65488470 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 65480416 bp
ZygosityHeterozygous
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]
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: 64,766,546 I272V possibly damaging Het
4930590J08Rik A G 6: 91,928,735 N496D probably damaging Het
Adcy2 C T 13: 68,729,277 G448E probably damaging Het
Alad G A 4: 62,510,607 probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Appbp2 A T 11: 85,210,034 M193K probably benign Het
Cd300a G A 11: 114,897,797 M204I possibly damaging Het
Cep350 T A 1: 155,928,539 M933L probably benign Het
Cyp2s1 T A 7: 25,808,148 N292I probably damaging Het
Ddx58 T C 4: 40,206,069 E841G possibly damaging Het
Gnl2 T C 4: 125,052,594 I536T probably damaging Het
Ift140 C T 17: 25,087,984 R898C probably damaging Het
Oosp2 A T 19: 11,651,569 L56* probably null Het
Pars2 A T 4: 106,653,042 H7L probably benign Het
Pbx4 T C 8: 69,859,111 S59P probably benign Het
Psg20 G T 7: 18,680,966 H332N probably benign Het
Slc6a13 G A 6: 121,334,536 V384I probably benign Het
Tnc A T 4: 64,017,615 C361* probably null Het
Tsr1 T C 11: 74,903,998 V493A probably benign Het
Ube2u A G 4: 100,547,275 probably benign Het
Vav3 G A 3: 109,647,673 G79E probably damaging Het
Vmn1r81 T G 7: 12,260,305 R125S possibly damaging Het
Vmn2r45 A C 7: 8,471,716 L771R probably damaging Het
Vps54 T A 11: 21,268,799 H119Q probably damaging Het
Other mutations in Spg21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03130:Spg21 APN 9 65473708 missense probably benign 0.01
R0277:Spg21 UTSW 9 65465347 missense possibly damaging 0.92
R1843:Spg21 UTSW 9 65465336 missense probably damaging 0.99
R1920:Spg21 UTSW 9 65484497 missense probably damaging 1.00
R1959:Spg21 UTSW 9 65484492 missense probably damaging 1.00
R2110:Spg21 UTSW 9 65484429 splice site probably null
R2328:Spg21 UTSW 9 65486873 missense possibly damaging 0.83
R4600:Spg21 UTSW 9 65475975 missense probably benign 0.05
R4614:Spg21 UTSW 9 65480389 unclassified probably null
R5022:Spg21 UTSW 9 65475949 missense probably damaging 1.00
R5309:Spg21 UTSW 9 65468802 missense probably benign
R5312:Spg21 UTSW 9 65468802 missense probably benign
R6179:Spg21 UTSW 9 65468808 missense possibly damaging 0.86
Posted On2016-08-02