Incidental Mutation 'R5022:Spg21'
ID 389260
Institutional Source Beutler Lab
Gene Symbol Spg21
Ensembl Gene ENSMUSG00000032388
Gene Name SPG21, maspardin
Synonyms D9Wsu18e, BM-019, GL010, ACP33
MMRRC Submission 042613-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R5022 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 65460947-65488470 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65475949 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 139 (D139G)
Ref Sequence ENSEMBL: ENSMUSP00000150034 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034955] [ENSMUST00000213957] [ENSMUST00000215170]
AlphaFold Q9CQC8
Predicted Effect probably damaging
Transcript: ENSMUST00000034955
AA Change: D139G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034955
Gene: ENSMUSG00000032388
AA Change: D139G

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 damaging
Transcript: ENSMUST00000213957
AA Change: D139G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216992
Meta Mutation Damage Score 0.5430 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency 99% (110/111)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 TCGACTGC T 4: 53,041,570 (GRCm38) probably null Het
Abca15 T C 7: 120,346,096 (GRCm38) I465T probably damaging Het
Abca3 C T 17: 24,374,300 (GRCm38) R224C probably damaging Het
Abcb4 T A 5: 8,909,054 (GRCm38) probably null Het
Acan T C 7: 79,092,808 (GRCm38) probably null Het
Aebp2 G A 6: 140,637,730 (GRCm38) R109Q possibly damaging Het
Agfg2 A T 5: 137,660,160 (GRCm38) probably null Het
Ankib1 T A 5: 3,734,011 (GRCm38) I322F possibly damaging Het
AW551984 A T 9: 39,597,965 (GRCm38) N293K probably benign Het
BC028528 T A 3: 95,888,823 (GRCm38) probably benign Het
Bicc1 A G 10: 70,947,883 (GRCm38) S393P possibly damaging Het
Birc6 A G 17: 74,692,332 (GRCm38) Y4656C probably damaging Het
Bmp3 A G 5: 98,872,824 (GRCm38) R369G probably damaging Het
C1d T A 11: 17,266,674 (GRCm38) N135K probably benign Het
Ccdc148 G A 2: 58,827,632 (GRCm38) A453V probably damaging Het
Cd163 C T 6: 124,325,288 (GRCm38) T937I probably damaging Het
Celf2 C T 2: 6,607,847 (GRCm38) probably benign Het
Chga T C 12: 102,562,837 (GRCm38) W358R probably damaging Het
Clec4b2 A T 6: 123,200,956 (GRCm38) S77C probably null Het
Crim1 T C 17: 78,280,129 (GRCm38) V221A possibly damaging Het
D630003M21Rik A T 2: 158,217,633 (GRCm38) S116T probably damaging Het
Dlg5 T C 14: 24,136,622 (GRCm38) E1847G probably damaging Het
Dmxl1 T A 18: 49,895,127 (GRCm38) I2206K probably damaging Het
Dusp7 T A 9: 106,373,741 (GRCm38) L355Q probably damaging Het
Exd2 T A 12: 80,496,790 (GRCm38) N582K probably damaging Het
Fbln1 G A 15: 85,237,626 (GRCm38) S316N probably damaging Het
Fchsd1 A G 18: 37,964,810 (GRCm38) I340T possibly damaging Het
Fn1 T C 1: 71,624,179 (GRCm38) Y1050C probably damaging Het
Fsip2 A G 2: 82,979,429 (GRCm38) I2031V probably benign Het
Gm10803 A C 2: 93,564,172 (GRCm38) L96F probably damaging Het
Gm12169 T A 11: 46,528,532 (GRCm38) D58E probably damaging Het
Gm14569 T C X: 36,430,817 (GRCm38) D1413G probably benign Het
Gm15455 T C 1: 33,837,351 (GRCm38) noncoding transcript Het
Gm1818 G C 12: 48,555,535 (GRCm38) noncoding transcript Het
Gm4907 G A X: 23,907,241 (GRCm38) G327E probably damaging Het
Gm5039 T C 12: 88,321,301 (GRCm38) I61V probably benign Het
Gm5420 A T 10: 21,691,727 (GRCm38) noncoding transcript Het
Gm6803 A T 12: 88,018,711 (GRCm38) S21T unknown Het
Gm7104 A T 12: 88,285,759 (GRCm38) noncoding transcript Het
Gp2 A G 7: 119,449,114 (GRCm38) I427T probably damaging Het
Gpc4 G A X: 52,074,563 (GRCm38) R148C probably damaging Het
Gpr142 A C 11: 114,804,388 (GRCm38) S60R probably benign Het
Helz2 T C 2: 181,240,569 (GRCm38) R144G probably benign Het
Herc1 A T 9: 66,470,326 (GRCm38) K3458M possibly damaging Het
Hnf4g G T 3: 3,644,587 (GRCm38) A144S probably damaging Het
Irs2 A C 8: 10,987,012 (GRCm38) *1322G probably null Het
Keg1 A G 19: 12,719,157 (GRCm38) N288S probably damaging Het
Kif19a G A 11: 114,767,227 (GRCm38) M37I probably benign Het
Klhl1 G A 14: 96,136,706 (GRCm38) P635S probably benign Het
Klk14 G A 7: 43,692,077 (GRCm38) C51Y probably damaging Het
Lsm11 T C 11: 45,944,839 (GRCm38) D25G probably damaging Het
Manea A T 4: 26,336,630 (GRCm38) Y215* probably null Het
Mdga2 C T 12: 66,470,760 (GRCm38) C100Y possibly damaging Het
Mthfd1 T G 12: 76,294,374 (GRCm38) V480G probably damaging Het
Mthfd1 T A 12: 76,301,328 (GRCm38) M582K probably damaging Het
Myh7b G C 2: 155,632,373 (GRCm38) R1669S possibly damaging Het
Nanos1 T C 19: 60,756,980 (GRCm38) Y239H probably damaging Het
Nat8 G A 6: 85,830,857 (GRCm38) T98I possibly damaging Het
Ndufs3 C A 2: 90,898,660 (GRCm38) A161S probably benign Het
Nexmif A T X: 104,087,350 (GRCm38) N320K probably damaging Het
Olfr1216 A G 2: 89,014,043 (GRCm38) V7A probably damaging Het
Olfr1228 C T 2: 89,249,417 (GRCm38) M92I probably benign Het
Olfr164 A T 16: 19,286,059 (GRCm38) V228D probably damaging Het
Olfr239 T C 17: 33,199,777 (GRCm38) F239S probably damaging Het
Olfr457 A T 6: 42,471,287 (GRCm38) V297E possibly damaging Het
Olfr589 G A 7: 103,155,735 (GRCm38) P4L probably benign Het
Olfr727 T C 14: 50,127,012 (GRCm38) V145A possibly damaging Het
Olfr822 T C 10: 130,074,593 (GRCm38) L61P probably damaging Het
Pcdhb14 T A 18: 37,450,170 (GRCm38) N776K probably benign Het
Pip5k1c G A 10: 81,310,889 (GRCm38) probably null Het
Plk4 G A 3: 40,802,077 (GRCm38) probably null Het
Prmt8 A G 6: 127,711,163 (GRCm38) Y231H possibly damaging Het
Prpf4b T C 13: 34,883,599 (GRCm38) probably benign Het
Ptpn21 G A 12: 98,679,407 (GRCm38) R1091C probably damaging Het
Pwwp2b C T 7: 139,255,578 (GRCm38) P312S possibly damaging Het
Rad21 A T 15: 51,966,706 (GRCm38) I503K probably benign Het
Rai14 A G 15: 10,574,506 (GRCm38) S789P probably damaging Het
Rbm26 C T 14: 105,144,252 (GRCm38) D486N probably damaging Het
Rnf20 A G 4: 49,642,016 (GRCm38) probably benign Het
Ros1 A G 10: 52,124,075 (GRCm38) V1118A possibly damaging Het
Sema3d A C 5: 12,584,956 (GRCm38) Y663S probably damaging Het
Serpina6 A G 12: 103,651,712 (GRCm38) W281R probably damaging Het
Slc8a3 A G 12: 81,199,558 (GRCm38) V900A probably damaging Het
Spats2l G T 1: 57,879,556 (GRCm38) V30L probably damaging Het
Sun3 T C 11: 9,038,314 (GRCm38) T3A probably damaging Het
Tcrg-V1 T A 13: 19,340,231 (GRCm38) S42T probably benign Het
Tep1 A G 14: 50,828,999 (GRCm38) Y2335H probably benign Het
Timm21 C A 18: 84,949,414 (GRCm38) V112L possibly damaging Het
Tlk1 A T 2: 70,742,065 (GRCm38) N386K probably benign Het
Trappc10 G T 10: 78,217,160 (GRCm38) F260L possibly damaging Het
Trmt112 T C 19: 6,910,753 (GRCm38) V91A probably benign Het
Ucp2 A T 7: 100,498,372 (GRCm38) N186I possibly damaging Het
Vmn1r119 A G 7: 21,012,320 (GRCm38) S46P probably benign Het
Vmn2r101 A T 17: 19,611,387 (GRCm38) probably null Het
Vmn2r105 T A 17: 20,208,414 (GRCm38) H800L probably damaging Het
Vmn2r69 T C 7: 85,411,159 (GRCm38) M406V possibly damaging Het
Vmn2r84 A G 10: 130,386,548 (GRCm38) L601P probably damaging Het
Vps16 A G 2: 130,439,452 (GRCm38) S235G probably benign Het
Wap T C 11: 6,637,339 (GRCm38) probably benign Het
Wdr11 A G 7: 129,624,711 (GRCm38) I744M probably benign Het
Xiap T C X: 42,094,465 (GRCm38) F23L probably benign Het
Xkr7 A G 2: 153,054,380 (GRCm38) T385A probably benign Het
Zfp524 A T 7: 5,018,417 (GRCm38) I315F probably benign Het
Zfp62 T A 11: 49,215,729 (GRCm38) S216T probably damaging Het
Znfx1 T C 2: 167,039,826 (GRCm38) Y217C probably damaging Het
Other mutations in Spg21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03130:Spg21 APN 9 65,473,708 (GRCm38) missense probably benign 0.01
IGL03358:Spg21 APN 9 65,480,416 (GRCm38) missense probably benign 0.02
R0277:Spg21 UTSW 9 65,465,347 (GRCm38) missense possibly damaging 0.92
R1843:Spg21 UTSW 9 65,465,336 (GRCm38) missense probably damaging 0.99
R1920:Spg21 UTSW 9 65,484,497 (GRCm38) missense probably damaging 1.00
R1959:Spg21 UTSW 9 65,484,492 (GRCm38) missense probably damaging 1.00
R2110:Spg21 UTSW 9 65,484,429 (GRCm38) splice site probably null
R2328:Spg21 UTSW 9 65,486,873 (GRCm38) missense possibly damaging 0.83
R4600:Spg21 UTSW 9 65,475,975 (GRCm38) missense probably benign 0.05
R4614:Spg21 UTSW 9 65,480,389 (GRCm38) splice site probably null
R5309:Spg21 UTSW 9 65,468,802 (GRCm38) missense probably benign
R5312:Spg21 UTSW 9 65,468,802 (GRCm38) missense probably benign
R6179:Spg21 UTSW 9 65,468,808 (GRCm38) missense possibly damaging 0.86
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-06