Incidental Mutation 'IGL02387:Tpbpb'
ID 291604
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpbpb
Ensembl Gene ENSMUSG00000062705
Gene Name trophoblast specific protein beta
Synonyms 1600012N09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL02387
Quality Score
Status
Chromosome 13
Chromosomal Location 61049109-61052661 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to G at 61049668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Cysteine at position 121 (*121C)
Ref Sequence ENSEMBL: ENSMUSP00000153262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021884] [ENSMUST00000080766] [ENSMUST00000171347] [ENSMUST00000223698] [ENSMUST00000223978] [ENSMUST00000225167] [ENSMUST00000225859] [ENSMUST00000225439] [ENSMUST00000225690]
AlphaFold Q9CQC0
Predicted Effect probably benign
Transcript: ENSMUST00000021884
SMART Domains Protein: ENSMUSP00000021884
Gene: ENSMUSG00000074874

DomainStartEndE-ValueType
Inhibitor_I29 16 75 1.85e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080766
SMART Domains Protein: ENSMUSP00000079588
Gene: ENSMUSG00000062705

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171347
SMART Domains Protein: ENSMUSP00000131083
Gene: ENSMUSG00000074874

DomainStartEndE-ValueType
Inhibitor_I29 16 75 1.85e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000223698
Predicted Effect probably null
Transcript: ENSMUST00000223978
AA Change: *121C
Predicted Effect probably benign
Transcript: ENSMUST00000225167
Predicted Effect probably benign
Transcript: ENSMUST00000225382
Predicted Effect probably benign
Transcript: ENSMUST00000225859
Predicted Effect probably benign
Transcript: ENSMUST00000225802
Predicted Effect probably benign
Transcript: ENSMUST00000225439
Predicted Effect probably benign
Transcript: ENSMUST00000225690
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acap3 T G 4: 155,986,617 (GRCm39) L311R probably damaging Het
Actr6 T A 10: 89,550,846 (GRCm39) N316I probably damaging Het
Adarb2 T A 13: 8,619,994 (GRCm39) V160E probably damaging Het
Atm A T 9: 53,391,066 (GRCm39) probably null Het
Atp2b4 T C 1: 133,659,627 (GRCm39) N445S probably damaging Het
Clic6 A G 16: 92,326,807 (GRCm39) D464G probably damaging Het
Clk2 C T 3: 89,083,698 (GRCm39) probably benign Het
Cyp4f40 A C 17: 32,886,984 (GRCm39) T152P probably damaging Het
Dpp8 A T 9: 64,952,998 (GRCm39) I225F probably damaging Het
Dspp A G 5: 104,323,490 (GRCm39) Q211R possibly damaging Het
Gja1 T A 10: 56,263,902 (GRCm39) V87E possibly damaging Het
Gm8165 T C 14: 43,913,696 (GRCm39) E56G possibly damaging Het
Gstp2 T A 19: 4,091,094 (GRCm39) probably benign Het
Gucy2e A G 11: 69,126,942 (GRCm39) V177A probably benign Het
Insrr G A 3: 87,720,434 (GRCm39) R1024H probably damaging Het
Iqgap2 A G 13: 95,826,209 (GRCm39) W538R probably benign Het
Lrrc71 T C 3: 87,650,378 (GRCm39) I232V probably damaging Het
Mphosph8 T A 14: 56,933,178 (GRCm39) N808K probably damaging Het
Or8h10 T A 2: 86,808,193 (GRCm39) R316* probably null Het
Pak6 T C 2: 118,523,714 (GRCm39) S290P probably benign Het
Ptpro C T 6: 137,387,978 (GRCm39) A734V probably damaging Het
Reg1 A T 6: 78,404,321 (GRCm39) N65I probably damaging Het
Rnf17 T G 14: 56,738,044 (GRCm39) I1275S probably damaging Het
Sfrp5 C T 19: 42,187,468 (GRCm39) V201I probably benign Het
Sgsm1 T A 5: 113,400,929 (GRCm39) H987L possibly damaging Het
Shank1 A T 7: 44,006,361 (GRCm39) Y2026F possibly damaging Het
Slc15a2 T C 16: 36,572,137 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Taar8a T A 10: 23,953,260 (GRCm39) I288N possibly damaging Het
Trim29 A T 9: 43,236,149 (GRCm39) N460I probably benign Het
Trp53tg5 T A 2: 164,313,376 (GRCm39) I100F possibly damaging Het
Ubr2 T C 17: 47,274,076 (GRCm39) T871A probably benign Het
Vrk1 A G 12: 106,036,803 (GRCm39) E363G probably damaging Het
Zfyve19 C T 2: 119,046,907 (GRCm39) probably benign Het
Other mutations in Tpbpb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01476:Tpbpb APN 13 61,049,948 (GRCm39) missense probably benign
IGL03231:Tpbpb APN 13 61,049,996 (GRCm39) missense probably damaging 0.96
R0928:Tpbpb UTSW 13 61,049,989 (GRCm39) missense probably benign 0.06
R1699:Tpbpb UTSW 13 61,049,977 (GRCm39) missense probably benign 0.07
R1868:Tpbpb UTSW 13 61,050,344 (GRCm39) intron probably benign
R7635:Tpbpb UTSW 13 61,049,925 (GRCm39) missense probably benign
R8772:Tpbpb UTSW 13 61,049,193 (GRCm39) intron probably benign
X0066:Tpbpb UTSW 13 61,049,998 (GRCm39) missense probably benign 0.11
Posted On 2015-04-16