Incidental Mutation 'IGL03130:Spg21'
ID 410295
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 # IGL03130
Quality Score
Status
Chromosome 9
Chromosomal Location 65368229-65395752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65380990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 99 (Q99R)
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: Q99R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034955
Gene: ENSMUSG00000032388
AA Change: Q99R

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: Q99R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000215170
AA Change: Q99R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216992
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 G T 10: 85,224,347 (GRCm39) probably null Het
Agtpbp1 T C 13: 59,622,403 (GRCm39) E941G possibly damaging Het
Akap11 A T 14: 78,747,808 (GRCm39) Y1526* probably null Het
Brd1 T C 15: 88,572,577 (GRCm39) I1165V probably benign Het
Cdan1 T C 2: 120,558,393 (GRCm39) D473G possibly damaging Het
Clstn3 G A 6: 124,436,222 (GRCm39) L176F probably damaging Het
Ctif T C 18: 75,654,689 (GRCm39) N279S probably benign Het
Dpy19l3 A G 7: 35,452,097 (GRCm39) S16P probably benign Het
Ecpas A T 4: 58,800,288 (GRCm39) C1806S probably benign Het
Fam151b T C 13: 92,586,701 (GRCm39) Y244C probably benign Het
Gbf1 T C 19: 46,255,787 (GRCm39) M750T possibly damaging Het
Gm11564 T A 11: 99,705,879 (GRCm39) T184S unknown Het
Gnptab A G 10: 88,272,233 (GRCm39) K958E possibly damaging Het
Hibch T C 1: 52,924,310 (GRCm39) S162P possibly damaging Het
Itpr1 T C 6: 108,500,362 (GRCm39) S2651P probably benign Het
LTO1 A G 7: 144,470,197 (GRCm39) E42G probably damaging Het
Lyrm1 A G 7: 119,513,403 (GRCm39) D56G probably damaging Het
Manba T C 3: 135,256,920 (GRCm39) Y528H probably damaging Het
Npas2 A C 1: 39,352,109 (GRCm39) E186D probably damaging Het
Or4f61 A T 2: 111,922,166 (GRCm39) D293E probably benign Het
Or7c19 A T 8: 85,957,258 (GRCm39) I45F possibly damaging Het
Or7d11 C A 9: 19,966,668 (GRCm39) L30F probably benign Het
Pcdhb6 T A 18: 37,468,640 (GRCm39) Y520* probably null Het
Plekhm1 C T 11: 103,268,207 (GRCm39) R588H probably benign Het
Psg23 A T 7: 18,344,341 (GRCm39) H371Q probably benign Het
Ptpn12 T C 5: 21,207,610 (GRCm39) probably benign Het
Rela T C 19: 5,689,909 (GRCm39) C120R probably damaging Het
Rps6kc1 T A 1: 190,532,008 (GRCm39) I665F probably damaging Het
St14 A G 9: 31,008,367 (GRCm39) probably null Het
Sult1c2 A T 17: 54,137,099 (GRCm39) N274K probably benign Het
Syk T C 13: 52,776,768 (GRCm39) V256A probably benign Het
Tcte1 A G 17: 45,844,222 (GRCm39) D66G probably damaging Het
Tgm4 C T 9: 122,885,580 (GRCm39) T374M probably damaging Het
Tns4 T C 11: 98,959,095 (GRCm39) H668R probably damaging Het
Tsn C T 1: 118,232,999 (GRCm39) A102T possibly damaging Het
Uvssa T A 5: 33,549,189 (GRCm39) S350T possibly damaging Het
Vmn1r3 T A 4: 3,185,214 (GRCm39) Y31F possibly damaging Het
Vmn2r114 A T 17: 23,515,970 (GRCm39) probably benign Het
Vmn2r27 T C 6: 124,169,276 (GRCm39) D618G possibly damaging Het
Vmn2r91 T A 17: 18,330,373 (GRCm39) probably benign Het
Vti1a T C 19: 55,380,279 (GRCm39) Y143H probably damaging Het
Zfand4 T A 6: 116,250,620 (GRCm39) Y17N probably damaging Het
Zfp729a T C 13: 67,767,761 (GRCm39) probably null Het
Zfp827 A G 8: 79,787,586 (GRCm39) T251A probably damaging Het
Other mutations in Spg21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03358:Spg21 APN 9 65,387,698 (GRCm39) missense probably benign 0.02
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