Incidental Mutation 'IGL01085:Thpo'
ID52901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thpo
Ensembl Gene ENSMUSG00000022847
Gene Namethrombopoietin
SynonymsTPO-3, TPO-1, TPO-2, TPO, TPO-4, myeloproliferative leukemia virus oncogene ligand, Mpllg
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01085
Quality Score
Status
Chromosome16
Chromosomal Location20724454-20734511 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 20728455 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 52 (D52G)
Ref Sequence ENSEMBL: ENSMUSP00000111097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007171] [ENSMUST00000076422] [ENSMUST00000115423] [ENSMUST00000115437] [ENSMUST00000153299] [ENSMUST00000231636] [ENSMUST00000231698] [ENSMUST00000231826] [ENSMUST00000232217] [ENSMUST00000232646]
Predicted Effect probably benign
Transcript: ENSMUST00000007171
SMART Domains Protein: ENSMUSP00000007171
Gene: ENSMUSG00000006958

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
VWC 51 125 9.33e-2 SMART
CHRD 170 274 1.27e-14 SMART
CHRD 281 395 4.63e-17 SMART
CHRD 400 517 7.81e-24 SMART
CHRD 528 643 2.03e-31 SMART
low complexity region 676 687 N/A INTRINSIC
VWC 701 758 4.69e-10 SMART
VWC 779 845 5.3e-9 SMART
VWC 867 927 1.68e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000076422
AA Change: D52G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075756
Gene: ENSMUSG00000022847
AA Change: D52G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:EPO_TPO 24 188 9.4e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115423
SMART Domains Protein: ENSMUSP00000111083
Gene: ENSMUSG00000006958

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
VWC 51 125 9.33e-2 SMART
CHRD 170 274 1.27e-14 SMART
CHRD 281 395 4.63e-17 SMART
CHRD 400 517 7.81e-24 SMART
CHRD 528 605 3.92e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115437
AA Change: D52G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111097
Gene: ENSMUSG00000022847
AA Change: D52G

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:EPO_TPO 25 193 5.4e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153299
SMART Domains Protein: ENSMUSP00000138259
Gene: ENSMUSG00000006958

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
VWC 51 125 9.33e-2 SMART
Blast:CHRD 170 236 1e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000231636
Predicted Effect probably benign
Transcript: ENSMUST00000231698
Predicted Effect possibly damaging
Transcript: ENSMUST00000231826
AA Change: D52G

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232104
Predicted Effect probably damaging
Transcript: ENSMUST00000232217
AA Change: D81G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000232646
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a humoral growth factor necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. The encoded protein is a ligand for the product of the myeloproliferative leukemia virus oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for targeted mutations at this locus are unable to produce normal amounts of megakaryocytes and platelets. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 60,037,342 probably benign Het
Acp7 T C 7: 28,611,053 Y453C probably damaging Het
Bop1 T C 15: 76,453,376 D683G probably damaging Het
Cacna1b G T 2: 24,678,994 R974S probably damaging Het
Cenpt T C 8: 105,846,665 E350G possibly damaging Het
Cep112 G T 11: 108,486,606 R270L probably damaging Het
Crem T C 18: 3,299,236 T26A probably damaging Het
Crot T C 5: 8,973,955 H387R probably damaging Het
Fdxr A T 11: 115,269,576 V351E probably benign Het
Fkbpl T C 17: 34,645,744 L162P probably damaging Het
Fmn2 T A 1: 174,695,654 N1358K probably damaging Het
Gm5155 A T 7: 17,915,691 H729L possibly damaging Het
Hectd4 G T 5: 121,331,701 G2553V probably damaging Het
Ifna16 A T 4: 88,676,732 I42K probably benign Het
Igfals C T 17: 24,881,660 T575I probably benign Het
Il6 G T 5: 30,013,489 V28F probably damaging Het
Irx1 A G 13: 71,959,697 S289P probably benign Het
Ncoa2 T C 1: 13,149,079 T1245A possibly damaging Het
Nr3c2 G T 8: 76,908,354 R28L probably benign Het
Nudt5 G A 2: 5,864,427 V155I probably benign Het
Olfr12 G T 1: 92,620,199 V98F possibly damaging Het
Pcm1 T C 8: 41,309,603 S1395P probably damaging Het
Pkhd1l1 G A 15: 44,562,752 probably null Het
Prodh A T 16: 18,076,344 V339E probably damaging Het
Rbm48 C T 5: 3,584,762 V401M probably benign Het
Retreg3 G A 11: 101,100,925 Q61* probably null Het
Rif1 A G 2: 52,085,140 M354V possibly damaging Het
Rrn3 G A 16: 13,809,062 V507M probably damaging Het
Safb2 T A 17: 56,565,242 R197* probably null Het
Slc22a26 A G 19: 7,790,099 V314A probably benign Het
Slfnl1 G T 4: 120,533,356 R68L probably damaging Het
Spata1 G T 3: 146,476,242 Q10K possibly damaging Het
Swi5 T C 2: 32,280,727 M95V possibly damaging Het
Tmem101 A T 11: 102,154,660 L121Q probably damaging Het
Trim40 T C 17: 36,883,241 I187V probably benign Het
Usp33 A G 3: 152,368,569 K351E possibly damaging Het
Uvrag T C 7: 99,118,224 T67A probably damaging Het
Vcan T C 13: 89,679,958 D2163G probably damaging Het
Wnt7a C T 6: 91,408,789 V61I probably benign Het
Zfp804b A G 5: 6,770,931 S675P probably damaging Het
Other mutations in Thpo
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1595:Thpo UTSW 16 20728456 missense probably damaging 1.00
R3838:Thpo UTSW 16 20728748 missense probably damaging 1.00
R5911:Thpo UTSW 16 20728796 missense probably null 1.00
R6113:Thpo UTSW 16 20728847 unclassified probably benign
R6977:Thpo UTSW 16 20725683 missense probably damaging 0.99
R7769:Thpo UTSW 16 20725651 missense probably benign 0.00
R7862:Thpo UTSW 16 20728790 missense probably benign 0.06
R8079:Thpo UTSW 16 20726394 missense probably benign
R8281:Thpo UTSW 16 20725775 missense possibly damaging 0.91
Posted On2013-06-21