Incidental Mutation 'IGL01532:Sptssb'
ID 89815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sptssb
Ensembl Gene ENSMUSG00000043461
Gene Name serine palmitoyltransferase, small subunit B
Synonyms ADMP, 1110032A04Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01532
Quality Score
Status
Chromosome 3
Chromosomal Location 69726875-69767273 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to G at 69728202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051239] [ENSMUST00000171529]
AlphaFold Q925E8
Predicted Effect probably benign
Transcript: ENSMUST00000051239
SMART Domains Protein: ENSMUSP00000062794
Gene: ENSMUSG00000043461

DomainStartEndE-ValueType
Pfam:DUF3317 7 60 1.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171529
SMART Domains Protein: ENSMUSP00000131241
Gene: ENSMUSG00000043461

DomainStartEndE-ValueType
Pfam:DUF3317 5 62 4.3e-23 PFAM
Coding Region Coverage
Validation Efficiency
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. SSSPTB 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]
PHENOTYPE: Mice heterozygous for an ENU mutation exhibit shiny flecks in the ocular fundus and brain vacuoles. Mice homozygous for the allele exhibit premature death, ataxia, decreased weight, shiny flecks in the ocular fundus, brain and retina vacuoles and impaired ER stress response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,558,349 (GRCm39) N264K probably damaging Het
Adgrl3 C T 5: 81,842,416 (GRCm39) T260I probably damaging Het
Ambra1 G T 2: 91,715,977 (GRCm39) K769N probably damaging Het
Arel1 A G 12: 84,980,936 (GRCm39) V357A possibly damaging Het
Atp11b T A 3: 35,903,651 (GRCm39) C76* probably null Het
AW112010 C A 19: 11,025,433 (GRCm39) noncoding transcript Het
Bfar A T 16: 13,505,251 (GRCm39) probably benign Het
Ccdc70 T G 8: 22,463,299 (GRCm39) L30V probably damaging Het
Cep20 A G 16: 14,122,375 (GRCm39) S130P probably benign Het
Chrm5 C T 2: 112,309,577 (GRCm39) R513Q probably benign Het
Crem G A 18: 3,276,732 (GRCm39) T7I probably benign Het
Cyp4f39 C T 17: 32,689,928 (GRCm39) probably benign Het
Dlg5 T C 14: 24,208,660 (GRCm39) T849A probably benign Het
Dock8 G T 19: 25,146,805 (GRCm39) G1428V probably damaging Het
Eomes T C 9: 118,311,317 (GRCm39) I380T probably damaging Het
Fam13a T C 6: 58,917,280 (GRCm39) D532G probably damaging Het
Gm10061 G T 16: 88,948,190 (GRCm39) *55L probably null Het
Gm27438 T G 2: 87,083,269 (GRCm39) probably benign Het
Gpalpp1 T C 14: 76,339,942 (GRCm39) K124E probably benign Het
Hgs T A 11: 120,368,335 (GRCm39) probably null Het
Hpn T A 7: 30,802,938 (GRCm39) M121L possibly damaging Het
Il1r1 T C 1: 40,334,088 (GRCm39) probably null Het
Jag2 A T 12: 112,877,983 (GRCm39) C583S probably damaging Het
Katnal2 T C 18: 77,099,696 (GRCm39) H146R probably benign Het
Ldah T C 12: 8,270,596 (GRCm39) probably benign Het
Lvrn T A 18: 47,033,551 (GRCm39) Y921N probably damaging Het
Muc5b A G 7: 141,423,743 (GRCm39) Y4572C possibly damaging Het
Myo16 A G 8: 10,450,551 (GRCm39) S518G probably benign Het
Ncf1 T C 5: 134,255,447 (GRCm39) N148S probably benign Het
Nes T G 3: 87,885,654 (GRCm39) D1260E possibly damaging Het
Nup210 C A 6: 91,062,981 (GRCm39) probably benign Het
Or52b4i T C 7: 102,191,863 (GRCm39) L240P probably damaging Het
Rnf31 C A 14: 55,840,080 (GRCm39) Q968K probably damaging Het
Ros1 A G 10: 51,967,034 (GRCm39) probably benign Het
Ryk T C 9: 102,774,465 (GRCm39) Y400H probably benign Het
Slc4a5 T A 6: 83,250,022 (GRCm39) probably null Het
Sstr5 T C 17: 25,710,305 (GRCm39) D308G probably damaging Het
Taf2 A G 15: 54,912,882 (GRCm39) W493R possibly damaging Het
Vmn2r28 T A 7: 5,489,463 (GRCm39) I459L probably benign Het
Vti1b A C 12: 79,211,912 (GRCm39) L1W probably null Het
Wdr1 T C 5: 38,692,530 (GRCm39) Y125C probably damaging Het
Other mutations in Sptssb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7966:Sptssb UTSW 3 69,728,286 (GRCm39) nonsense probably null
R8260:Sptssb UTSW 3 69,728,305 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03