Incidental Mutation 'R5312:Spg21'
ID 405654
Institutional Source Beutler Lab
Gene Symbol Spg21
Ensembl Gene ENSMUSG00000032388
Gene Name SPG21, maspardin
Synonyms ACP33, BM-019, D9Wsu18e, GL010
MMRRC Submission 042895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R5312 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 65368229-65395752 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65376084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 31 (I31V)
Ref Sequence ENSEMBL: ENSMUSP00000150052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034955] [ENSMUST00000213957] [ENSMUST00000215170]
AlphaFold Q9CQC8
Predicted Effect probably benign
Transcript: ENSMUST00000034955
AA Change: I31V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034955
Gene: ENSMUSG00000032388
AA Change: I31V

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: I31V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215170
AA Change: I31V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216992
Meta Mutation Damage Score 0.0578 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (60/60)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,944,592 (GRCm39) V409A probably damaging Het
Abtb1 A G 6: 88,815,240 (GRCm39) F297L probably damaging Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Adgrg3 G A 8: 95,766,492 (GRCm39) V388I probably benign Het
Adnp T C 2: 168,026,108 (GRCm39) T396A probably benign Het
Ank2 T C 3: 126,753,417 (GRCm39) Q288R probably damaging Het
Bdp1 T C 13: 100,234,109 (GRCm39) probably null Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Ceacam23 T G 7: 17,643,067 (GRCm39) H492Q probably damaging Het
Cfap210 T C 2: 69,617,602 (GRCm39) T60A possibly damaging Het
Cntnap5c A T 17: 58,666,249 (GRCm39) E1093V probably benign Het
Cplx3 A T 9: 57,518,360 (GRCm39) L343Q probably damaging Het
Dmrta1 A C 4: 89,580,284 (GRCm39) N415H probably damaging Het
Dnaaf5 T A 5: 139,138,617 (GRCm39) V266E probably damaging Het
Dot1l A G 10: 80,620,471 (GRCm39) Q511R possibly damaging Het
Ehmt1 A G 2: 24,774,207 (GRCm39) V201A probably damaging Het
Fancg A G 4: 43,003,019 (GRCm39) F613L probably benign Het
Fbxo10 A T 4: 45,042,036 (GRCm39) I731N possibly damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Ighv1-74 A G 12: 115,766,501 (GRCm39) S39P probably damaging Het
Kbtbd11 A G 8: 15,078,589 (GRCm39) D396G possibly damaging Het
Klc1 A G 12: 111,762,055 (GRCm39) K575R possibly damaging Het
Mki67 A T 7: 135,302,559 (GRCm39) V825E probably damaging Het
Mus81 T C 19: 5,533,522 (GRCm39) K489R possibly damaging Het
Myog A G 1: 134,218,064 (GRCm39) K91E probably damaging Het
Nfil3 A T 13: 53,121,656 (GRCm39) V416E probably damaging Het
Nup160 G T 2: 90,563,176 (GRCm39) E1314* probably null Het
Nwd2 C T 5: 63,963,415 (GRCm39) Q1000* probably null Het
Or4g17 T C 2: 111,210,179 (GRCm39) V278A possibly damaging Het
Or4k35 T G 2: 111,100,655 (GRCm39) D19A probably benign Het
Or6c66b A C 10: 129,377,134 (GRCm39) M243L probably benign Het
Or6c75 T A 10: 129,337,383 (GRCm39) V210E probably damaging Het
Ppp4r4 T A 12: 103,573,147 (GRCm39) probably null Het
Pramel16 A T 4: 143,675,665 (GRCm39) I387N possibly damaging Het
Psg27 C A 7: 18,290,958 (GRCm39) R415L probably benign Het
Ptprr T A 10: 116,024,324 (GRCm39) S212T probably benign Het
Ramp3 T C 11: 6,624,888 (GRCm39) F61L probably damaging Het
Rap1gds1 A G 3: 138,664,389 (GRCm39) L322P probably damaging Het
Rnf5 A G 17: 34,820,562 (GRCm39) F175S probably benign Het
Sema4a G A 3: 88,344,343 (GRCm39) S636F probably damaging Het
Sfrp2 A G 3: 83,676,708 (GRCm39) D193G probably damaging Het
Slc26a5 T C 5: 22,052,258 (GRCm39) S24G probably damaging Het
Slco1a8 A T 6: 141,918,058 (GRCm39) F606Y probably benign Het
Tmem45a2 T C 16: 56,859,370 (GRCm39) D287G possibly damaging Het
Utrn A T 10: 12,603,513 (GRCm39) D627E probably damaging Het
Vmn2r103 A T 17: 20,013,296 (GRCm39) N139I probably benign Het
Vps35l T C 7: 118,412,799 (GRCm39) I629T probably damaging Het
Washc5 A T 15: 59,217,377 (GRCm39) probably null Het
Zfp667 T C 7: 6,308,466 (GRCm39) I378T probably benign Het
Zfp949 A C 9: 88,449,236 (GRCm39) T14P possibly damaging Het
Other mutations in Spg21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03130:Spg21 APN 9 65,380,990 (GRCm39) missense probably benign 0.01
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
R6179:Spg21 UTSW 9 65,376,090 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- ACCAGGGCAGCTTATTGTGG -3'
(R):5'- TTCCCAGTATTATAGCTCGTCAG -3'

Sequencing Primer
(F):5'- GCAGCTTATTGTGGGTACTCACC -3'
(R):5'- GCTCGTCAGCGACAGAAG -3'
Posted On 2016-07-22