Incidental Mutation 'R8771:Sptssa'
ID 664421
Institutional Source Beutler Lab
Gene Symbol Sptssa
Ensembl Gene ENSMUSG00000044408
Gene Name serine palmitoyltransferase, small subunit A
Synonyms 1110002B05Rik
MMRRC Submission 068602-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8771 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 54692177-54703358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54703211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 20 (Y20H)
Ref Sequence ENSEMBL: ENSMUSP00000053671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056228] [ENSMUST00000218147]
AlphaFold Q8R207
Predicted Effect probably damaging
Transcript: ENSMUST00000056228
AA Change: Y20H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053671
Gene: ENSMUSG00000044408
AA Change: Y20H

DomainStartEndE-ValueType
Pfam:DUF3317 10 63 9.9e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000218147
AA Change: Y20H

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,880,320 (GRCm39) I451T probably damaging Het
Acin1 T C 14: 54,880,496 (GRCm39) K1236E unknown Het
AI661453 T C 17: 47,777,683 (GRCm39) S470P unknown Het
Ano5 C A 7: 51,216,095 (GRCm39) N357K probably damaging Het
Ano5 C T 7: 51,220,047 (GRCm39) Q396* probably null Het
Baz1b T A 5: 135,273,151 (GRCm39) M1425K probably benign Het
Cdh22 A T 2: 164,988,689 (GRCm39) V222E possibly damaging Het
Celsr1 A T 15: 85,788,175 (GRCm39) S2692R probably benign Het
Ces5a A G 8: 94,255,249 (GRCm39) I144T possibly damaging Het
D5Ertd579e T A 5: 36,761,940 (GRCm39) N1309I probably damaging Het
Dnmt3b C T 2: 153,504,734 (GRCm39) T112M possibly damaging Het
Eif4g3 C T 4: 137,907,848 (GRCm39) Q1283* probably null Het
Etnppl T A 3: 130,414,024 (GRCm39) M41K probably damaging Het
Hhatl G A 9: 121,617,776 (GRCm39) T271I possibly damaging Het
Igkv5-37 A G 6: 69,940,423 (GRCm39) S74P probably damaging Het
Krt87 A G 15: 101,385,779 (GRCm39) V272A probably benign Het
Lgr6 A T 1: 134,933,429 (GRCm39) L262* probably null Het
Lrriq3 G A 3: 154,899,270 (GRCm39) V590I probably damaging Het
Mfsd13a T C 19: 46,360,668 (GRCm39) V382A probably damaging Het
Minar2 T C 18: 59,200,052 (GRCm39) probably benign Het
Mrc2 A G 11: 105,240,596 (GRCm39) T1429A probably benign Het
Mroh5 A T 15: 73,693,203 (GRCm39) M79K possibly damaging Het
Myo1c A G 11: 75,556,709 (GRCm39) K553R probably benign Het
Nbeal1 A G 1: 60,300,743 (GRCm39) T1488A probably benign Het
Or4c12 T C 2: 89,773,565 (GRCm39) K298R probably benign Het
Or5aq6 T C 2: 86,923,294 (GRCm39) Y149C probably benign Het
Or5m10b T G 2: 85,699,712 (GRCm39) Y259D probably damaging Het
Or5p76 T A 7: 108,122,632 (GRCm39) N175I possibly damaging Het
Prl7a1 A T 13: 27,819,811 (GRCm39) W148R probably damaging Het
Ptpn2 G T 18: 67,805,659 (GRCm39) T402K probably benign Het
Ptprf A G 4: 118,068,987 (GRCm39) M1665T possibly damaging Het
Raet1e G T 10: 22,057,041 (GRCm39) V122F probably damaging Het
Serpina3m A G 12: 104,357,841 (GRCm39) E255G probably damaging Het
Sorcs2 T C 5: 36,188,624 (GRCm39) Y828C probably damaging Het
Sprr1a T A 3: 92,391,989 (GRCm39) H4L probably benign Het
Synpo2l A G 14: 20,710,491 (GRCm39) S939P probably damaging Het
Tdrd7 T C 4: 46,010,800 (GRCm39) V568A probably damaging Het
Tmem132c C T 5: 127,437,192 (GRCm39) P227L probably benign Het
Tmtc3 A G 10: 100,286,180 (GRCm39) S548P possibly damaging Het
Trip12 A T 1: 84,721,018 (GRCm39) probably benign Het
Ttll6 A G 11: 96,042,762 (GRCm39) Y436C probably damaging Het
Unc80 A G 1: 66,685,554 (GRCm39) D2226G possibly damaging Het
Vmn1r142 T C 7: 21,862,737 (GRCm39) M242V probably benign Het
Vmn2r12 T G 5: 109,239,952 (GRCm39) T204P possibly damaging Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Vmn2r61 C A 7: 41,916,194 (GRCm39) A269D probably damaging Het
Zfp148 A G 16: 33,317,656 (GRCm39) D776G possibly damaging Het
Zfp775 A T 6: 48,596,906 (GRCm39) Q260L probably benign Het
Other mutations in Sptssa
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2913:Sptssa UTSW 12 54,703,267 (GRCm39) start codon destroyed probably null 0.86
R3725:Sptssa UTSW 12 54,703,180 (GRCm39) missense probably damaging 1.00
R3726:Sptssa UTSW 12 54,703,180 (GRCm39) missense probably damaging 1.00
R6645:Sptssa UTSW 12 54,693,275 (GRCm39) missense probably damaging 1.00
R7743:Sptssa UTSW 12 54,703,201 (GRCm39) missense possibly damaging 0.68
X0026:Sptssa UTSW 12 54,703,189 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AATTGCGTACAAGACCCGGATC -3'
(R):5'- GCTTGGCCAATAAGCGCAAG -3'

Sequencing Primer
(F):5'- GATCTCCGCGGTTCCAC -3'
(R):5'- TTGGGCGTACACGGTGAC -3'
Posted On 2021-03-08