Incidental Mutation 'IGL01971:Tpbpa'
ID 182551
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpbpa
Ensembl Gene ENSMUSG00000033834
Gene Name trophoblast specific protein alpha
Synonyms Tb-1, clone 4311, Tb1, Tpbp, 4311
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL01971
Quality Score
Status
Chromosome 13
Chromosomal Location 61086306-61089750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61088047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 46 (F46L)
Ref Sequence ENSEMBL: ENSMUSP00000021885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021880] [ENSMUST00000021885] [ENSMUST00000224054] [ENSMUST00000225167] [ENSMUST00000225275] [ENSMUST00000225936] [ENSMUST00000225859]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021880
SMART Domains Protein: ENSMUSP00000021880
Gene: ENSMUSG00000044258

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Inhibitor_I29 40 99 6.2e-25 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000021885
AA Change: F46L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021885
Gene: ENSMUSG00000033834
AA Change: F46L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223750
Predicted Effect probably benign
Transcript: ENSMUST00000224054
Predicted Effect probably benign
Transcript: ENSMUST00000225167
Predicted Effect possibly damaging
Transcript: ENSMUST00000225275
AA Change: F46L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000225382
Predicted Effect probably benign
Transcript: ENSMUST00000225936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226023
Predicted Effect probably benign
Transcript: ENSMUST00000225802
Predicted Effect probably benign
Transcript: ENSMUST00000225859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225498
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik C T 7: 29,273,987 (GRCm39) noncoding transcript Het
Ankmy2 A T 12: 36,243,792 (GRCm39) K336* probably null Het
Areg A G 5: 91,288,870 (GRCm39) T59A probably benign Het
Atp8b4 T C 2: 126,304,536 (GRCm39) I66V probably benign Het
Atrnl1 C T 19: 57,741,715 (GRCm39) T1158M probably damaging Het
Ckmt1 T A 2: 121,194,064 (GRCm39) I409N probably benign Het
Cnnm2 A G 19: 46,860,115 (GRCm39) T730A probably benign Het
Fan1 T C 7: 64,003,459 (GRCm39) R788G probably damaging Het
Fbf1 T C 11: 116,034,208 (GRCm39) probably benign Het
Galnt2l G A 8: 125,070,081 (GRCm39) V499M probably benign Het
Heca A G 10: 17,791,162 (GRCm39) F298S probably damaging Het
Klhl6 A T 16: 19,768,276 (GRCm39) V423E probably damaging Het
Notch3 T C 17: 32,343,321 (GRCm39) N1951D probably damaging Het
Osbp T C 19: 11,967,999 (GRCm39) V636A probably benign Het
Szt2 T C 4: 118,244,152 (GRCm39) T1318A probably benign Het
Tnxb G A 17: 34,891,271 (GRCm39) G538D probably damaging Het
Ttn A G 2: 76,554,123 (GRCm39) V30860A probably damaging Het
Usf3 A G 16: 44,037,809 (GRCm39) probably null Het
Utp23 C A 15: 51,745,671 (GRCm39) A57E probably benign Het
Vmn2r13 T C 5: 109,321,981 (GRCm39) M239V probably benign Het
Other mutations in Tpbpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0940:Tpbpa UTSW 13 61,087,867 (GRCm39) missense probably damaging 1.00
R2022:Tpbpa UTSW 13 61,088,036 (GRCm39) missense probably benign 0.12
R3692:Tpbpa UTSW 13 61,087,827 (GRCm39) missense probably benign 0.02
R7187:Tpbpa UTSW 13 61,088,399 (GRCm39) unclassified probably benign
R8745:Tpbpa UTSW 13 61,087,778 (GRCm39) missense possibly damaging 0.92
Posted On 2014-05-07