Incidental Mutation 'IGL01987:Tpbg'
ID181949
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpbg
Ensembl Gene ENSMUSG00000035274
Gene Nametrophoblast glycoprotein
Synonyms5T4 oncofetal antigen, 5T4
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.707) question?
Stock #IGL01987
Quality Score
Status
Chromosome9
Chromosomal Location85842380-85847040 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85845199 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 407 (Y407C)
Ref Sequence ENSEMBL: ENSMUSP00000096101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006559] [ENSMUST00000098500]
Predicted Effect probably damaging
Transcript: ENSMUST00000006559
AA Change: Y407C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006559
Gene: ENSMUSG00000035274
AA Change: Y407C

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
LRRNT 61 95 1.27e-6 SMART
LRR 94 113 1.53e2 SMART
LRR_TYP 117 140 1.92e-2 SMART
LRR_TYP 141 164 6.88e-4 SMART
LRR 215 238 6.22e0 SMART
LRR_TYP 239 262 2.2e-2 SMART
LRR 263 286 2.67e-1 SMART
LRRCT 300 351 9.1e-14 SMART
transmembrane domain 360 382 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000069896
SMART Domains Protein: ENSMUSP00000126873
Gene: ENSMUSG00000056031

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 68 88 N/A INTRINSIC
low complexity region 103 122 N/A INTRINSIC
low complexity region 150 193 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098500
AA Change: Y407C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096101
Gene: ENSMUSG00000035274
AA Change: Y407C

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
LRRNT 61 95 1.27e-6 SMART
LRR 94 113 1.53e2 SMART
LRR_TYP 117 140 1.92e-2 SMART
LRR_TYP 141 164 6.88e-4 SMART
LRR 215 238 6.22e0 SMART
LRR_TYP 239 262 2.2e-2 SMART
LRR 263 286 2.67e-1 SMART
LRRCT 300 351 9.1e-14 SMART
transmembrane domain 360 382 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189191
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit low penetrance hydrocephaly and premature death. Embryonic stem cells isolated from these mice exhibit impaired mesenchyme differentiation and reduced chemotaxis following differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932411N23Rik C T X: 126,814,475 E336K possibly damaging Het
Abca17 A G 17: 24,346,228 F77L probably benign Het
Abca8a A G 11: 110,074,155 F439L possibly damaging Het
Abcb5 A T 12: 118,927,358 V468D probably damaging Het
Adgrb3 A T 1: 25,101,431 probably null Het
Ankrd28 T C 14: 31,778,974 D50G probably damaging Het
Cacna1b A T 2: 24,697,567 probably null Het
Capn9 A G 8: 124,576,226 S28G probably benign Het
Cdk5rap2 A G 4: 70,302,082 probably null Het
E2f5 T C 3: 14,587,303 probably benign Het
Fam135b A G 15: 71,462,115 Y1077H probably benign Het
Fap A G 2: 62,528,676 Y428H probably damaging Het
Fasn A G 11: 120,818,073 S595P probably damaging Het
Flnb T C 14: 7,922,748 probably null Het
Fzd3 A T 14: 65,239,898 V69E probably damaging Het
Gcdh A T 8: 84,893,481 probably benign Het
Gm996 T C 2: 25,577,958 E647G possibly damaging Het
Ido1 A G 8: 24,593,143 Y89H probably benign Het
Itga2 G A 13: 114,847,946 Q1010* probably null Het
Man1a2 T C 3: 100,644,557 Y280C probably damaging Het
Mgat4d T C 8: 83,368,102 I256T probably damaging Het
Mmrn1 A G 6: 60,944,573 K5E probably benign Het
Ncapd2 A G 6: 125,185,841 probably benign Het
Olfr520 A T 7: 99,735,271 I43F probably damaging Het
Olfr830 A T 9: 18,875,707 I127L probably benign Het
Pcnx3 T C 19: 5,677,479 D644G probably damaging Het
Pole T C 5: 110,337,232 V2280A probably benign Het
Ptprf T A 4: 118,277,370 M24L probably benign Het
Sbno1 T C 5: 124,404,219 N337S probably damaging Het
Serpinc1 T A 1: 160,993,407 F141L probably damaging Het
Shroom3 C A 5: 92,942,189 R933S probably damaging Het
Slc24a2 G A 4: 87,227,796 P7L probably benign Het
Slc25a32 G A 15: 39,097,607 T227I probably damaging Het
Slc7a1 A G 5: 148,337,192 F396L possibly damaging Het
Smok2a G A 17: 13,226,490 R318H probably benign Het
Sntg2 A G 12: 30,312,570 V59A probably damaging Het
Sspo A G 6: 48,477,624 probably null Het
Tnfrsf1a G A 6: 125,356,864 V27I probably damaging Het
Tnpo3 T C 6: 29,560,201 T648A probably benign Het
Wbp2nl A T 15: 82,308,561 M149L probably benign Het
Yif1a T A 19: 5,091,597 M181K probably benign Het
Zkscan8 A G 13: 21,526,559 L127S probably damaging Het
Other mutations in Tpbg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Tpbg APN 9 85844092 missense unknown
IGL01789:Tpbg APN 9 85844901 missense probably benign 0.00
R0399:Tpbg UTSW 9 85844938 missense possibly damaging 0.63
R0418:Tpbg UTSW 9 85844750 nonsense probably null
R0904:Tpbg UTSW 9 85844564 missense unknown
R1748:Tpbg UTSW 9 85844376 missense probably damaging 1.00
R3744:Tpbg UTSW 9 85845162 missense probably damaging 1.00
R3836:Tpbg UTSW 9 85843114 intron probably benign
R3837:Tpbg UTSW 9 85843114 intron probably benign
R3839:Tpbg UTSW 9 85843114 intron probably benign
R5221:Tpbg UTSW 9 85844425 missense probably damaging 1.00
R6488:Tpbg UTSW 9 85844485 missense possibly damaging 0.70
R7192:Tpbg UTSW 9 85844032 nonsense probably null
R7462:Tpbg UTSW 9 85844850 missense possibly damaging 0.56
Posted On2014-05-07