Incidental Mutation 'IGL01532:Sptssb'
ID89815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sptssb
Ensembl Gene ENSMUSG00000043461
Gene Nameserine palmitoyltransferase, small subunit B
Synonyms1110032A04Rik, ADMP
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01532
Quality Score
Status
Chromosome3
Chromosomal Location69819542-69859940 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to G at 69820869 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000131241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051239] [ENSMUST00000171529]
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: 66,908,601 N264K probably damaging Het
Adgrl3 C T 5: 81,694,569 T260I probably damaging Het
Ambra1 G T 2: 91,885,632 K769N probably damaging Het
Arel1 A G 12: 84,934,162 V357A possibly damaging Het
Atp11b T A 3: 35,849,502 C76* probably null Het
AW112010 C A 19: 11,048,069 noncoding transcript Het
Bfar A T 16: 13,687,387 probably benign Het
Ccdc70 T G 8: 21,973,283 L30V probably damaging Het
Chrm5 C T 2: 112,479,232 R513Q probably benign Het
Crem G A 18: 3,276,732 T7I probably benign Het
Cyp4f39 C T 17: 32,470,954 probably benign Het
Dlg5 T C 14: 24,158,592 T849A probably benign Het
Dock8 G T 19: 25,169,441 G1428V probably damaging Het
Eomes T C 9: 118,482,249 I380T probably damaging Het
Fam13a T C 6: 58,940,295 D532G probably damaging Het
Fopnl A G 16: 14,304,511 S130P probably benign Het
Gm10061 G T 16: 89,151,302 *55L probably null Het
Gm27438 T G 2: 87,252,925 probably benign Het
Gpalpp1 T C 14: 76,102,502 K124E probably benign Het
Hgs T A 11: 120,477,509 probably null Het
Hpn T A 7: 31,103,513 M121L possibly damaging Het
Il1r1 T C 1: 40,294,928 probably null Het
Jag2 A T 12: 112,914,363 C583S probably damaging Het
Katnal2 T C 18: 77,012,000 H146R probably benign Het
Ldah T C 12: 8,220,596 probably benign Het
Lvrn T A 18: 46,900,484 Y921N probably damaging Het
Muc5b A G 7: 141,870,006 Y4572C possibly damaging Het
Myo16 A G 8: 10,400,551 S518G probably benign Het
Ncf1 T C 5: 134,226,593 N148S probably benign Het
Nes T G 3: 87,978,347 D1260E possibly damaging Het
Nup210 C A 6: 91,085,999 probably benign Het
Olfr548-ps1 T C 7: 102,542,656 L240P probably damaging Het
Rnf31 C A 14: 55,602,623 Q968K probably damaging Het
Ros1 A G 10: 52,090,938 probably benign Het
Ryk T C 9: 102,897,266 Y400H probably benign Het
Slc4a5 T A 6: 83,273,040 probably null Het
Sstr5 T C 17: 25,491,331 D308G probably damaging Het
Taf2 A G 15: 55,049,486 W493R possibly damaging Het
Vmn2r28 T A 7: 5,486,464 I459L probably benign Het
Vti1b A C 12: 79,165,138 L1W probably null Het
Wdr1 T C 5: 38,535,187 Y125C probably damaging Het
Other mutations in Sptssb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7966:Sptssb UTSW 3 69820953 nonsense probably null
R8260:Sptssb UTSW 3 69820972 missense probably damaging 1.00
Posted On2013-12-03