Incidental Mutation 'IGL02173:Tsta3'
ID282968
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tsta3
Ensembl Gene ENSMUSG00000022570
Gene Nametissue specific transplantation antigen P35B
SynonymsTstap35b, FX, GDP-fucose synthase
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02173
Quality Score
Status
Chromosome15
Chromosomal Location75924676-75929832 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 75926185 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 233 (S233P)
Ref Sequence ENSEMBL: ENSMUSP00000155711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023231] [ENSMUST00000053918] [ENSMUST00000229085] [ENSMUST00000229289] [ENSMUST00000229641] [ENSMUST00000229951] [ENSMUST00000230303] [ENSMUST00000230364] [ENSMUST00000230736] [ENSMUST00000230610]
AlphaFold P23591
Predicted Effect probably benign
Transcript: ENSMUST00000023231
AA Change: S203P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023231
Gene: ENSMUSG00000022570
AA Change: S203P

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 8 74 1.2e-9 PFAM
Pfam:Epimerase 10 245 1.7e-59 PFAM
Pfam:GDP_Man_Dehyd 37 311 3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053918
SMART Domains Protein: ENSMUSP00000049605
Gene: ENSMUSG00000022571

DomainStartEndE-ValueType
Pfam:F420_oxidored 10 104 1.2e-17 PFAM
Pfam:P5CR_dimer 166 270 5.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229085
Predicted Effect probably benign
Transcript: ENSMUST00000229289
AA Change: S174P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000229641
AA Change: S203P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229786
Predicted Effect probably damaging
Transcript: ENSMUST00000229951
AA Change: S233P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229997
Predicted Effect probably benign
Transcript: ENSMUST00000230303
Predicted Effect probably benign
Transcript: ENSMUST00000230364
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230485
Predicted Effect possibly damaging
Transcript: ENSMUST00000230736
AA Change: S209P

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230884
Predicted Effect probably benign
Transcript: ENSMUST00000230610
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation frequently die in utero, while survivors are smaller than normal, show colon abnormalities, have reduced fertility, and frequently die before weaning. Heterozygotes also show some embryonic loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,225,892 H68L possibly damaging Het
4930533K18Rik A G 10: 70,872,230 noncoding transcript Het
4933409G03Rik A G 2: 68,613,057 T182A unknown Het
Abca2 T A 2: 25,441,897 D1340E probably benign Het
Abcc12 G A 8: 86,566,442 A39V probably damaging Het
Acap2 T C 16: 31,108,147 R510G possibly damaging Het
Ace G T 11: 105,988,991 R719L probably benign Het
Adarb1 A C 10: 77,321,825 F263V probably damaging Het
Ambra1 T C 2: 91,917,668 S1130P probably benign Het
Aqp7 A T 4: 41,034,379 L260* probably null Het
Cntn5 G T 9: 9,748,396 S493R probably damaging Het
Crhr2 A G 6: 55,103,180 F138S probably damaging Het
D2hgdh T A 1: 93,829,889 D175E probably benign Het
Dtx4 G T 19: 12,473,257 Y530* probably null Het
Elp4 T A 2: 105,702,743 H419L probably damaging Het
Etv6 A G 6: 134,248,727 D218G possibly damaging Het
Exoc5 A G 14: 49,034,801 probably benign Het
Fyb C T 15: 6,580,695 P250S probably benign Het
Gaa A G 11: 119,274,913 Y84C probably damaging Het
Galns A T 8: 122,598,626 S262R probably damaging Het
Gm4737 T C 16: 46,154,078 N312S probably benign Het
Kctd16 T C 18: 40,530,853 I345T probably benign Het
Lats2 A G 14: 57,697,260 V671A probably damaging Het
Maml3 C A 3: 51,690,787 L179F probably damaging Het
Myo1f T C 17: 33,607,344 L1089P probably damaging Het
Nadsyn1 A T 7: 143,804,006 probably benign Het
Olfr1502 A G 19: 13,862,014 T74A probably benign Het
Olfr39 T C 9: 20,286,395 V240A probably benign Het
Olfr394 A G 11: 73,888,123 M83T possibly damaging Het
Olfr639 G A 7: 104,011,830 P291S probably damaging Het
Otog T C 7: 46,276,741 probably benign Het
Pcbd1 A G 10: 61,092,204 probably benign Het
Pced1a A G 2: 130,422,328 V164A possibly damaging Het
Pgd A G 4: 149,156,753 I233T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sec24d A T 3: 123,353,681 H733L probably damaging Het
Slc1a2 T A 2: 102,743,861 N205K probably benign Het
Sstr2 G T 11: 113,625,016 V254L probably damaging Het
Tm9sf2 G T 14: 122,143,423 V308F probably benign Het
Tor3a T C 1: 156,674,206 K34E probably benign Het
Ubr4 T A 4: 139,437,070 probably null Het
Vmn1r56 A G 7: 5,196,118 S167P probably damaging Het
Zswim3 T A 2: 164,820,839 I413N probably damaging Het
Other mutations in Tsta3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02674:Tsta3 APN 15 75926389 missense probably damaging 1.00
IGL02830:Tsta3 APN 15 75925588 missense probably benign 0.00
R0189:Tsta3 UTSW 15 75926978 missense probably damaging 1.00
R0671:Tsta3 UTSW 15 75928958 missense possibly damaging 0.61
R1878:Tsta3 UTSW 15 75925369 missense probably benign 0.12
R1885:Tsta3 UTSW 15 75926989 missense possibly damaging 0.89
R1886:Tsta3 UTSW 15 75926989 missense possibly damaging 0.89
R1912:Tsta3 UTSW 15 75925649 missense possibly damaging 0.81
R2116:Tsta3 UTSW 15 75926142 missense probably damaging 1.00
R2393:Tsta3 UTSW 15 75926351 missense probably damaging 1.00
Posted On2015-04-16