Incidental Mutation 'IGL02039:Thbd'
ID184648
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thbd
Ensembl Gene ENSMUSG00000074743
Gene Namethrombomodulin
SynonymsCD141, TM
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02039
Quality Score
Status
Chromosome2
Chromosomal Location148404466-148408188 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 148406542 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 469 (T469A)
Ref Sequence ENSEMBL: ENSMUSP00000096877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099270]
Predicted Effect probably benign
Transcript: ENSMUST00000099270
AA Change: T469A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000096877
Gene: ENSMUSG00000074743
AA Change: T469A

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
CLECT 24 166 2.78e-18 SMART
EGF 243 280 2.2e1 SMART
EGF 286 323 1.47e-3 SMART
EGF_CA 324 362 7.81e-8 SMART
EGF 367 404 3.57e-2 SMART
EGF 406 439 2.53e1 SMART
EGF 443 480 2.39e1 SMART
low complexity region 490 511 N/A INTRINSIC
transmembrane domain 519 541 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants are growth retarded and die by embryonic day 9.5. Embryos develop further in vitro than in vivo suggesting maternal-fetal incompatibility. Endothelial cell-specific, conditional knockouts suffer fatal juvenile thromboses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,297,193 Y2313* probably null Het
Arhgef12 A G 9: 42,972,267 I1323T probably benign Het
C87436 A G 6: 86,453,695 M366V probably benign Het
Cep290 T C 10: 100,514,602 probably null Het
Cpsf3 T C 12: 21,301,456 M326T probably damaging Het
Cpxm2 A G 7: 132,047,753 V64A probably damaging Het
Csnka2ip G A 16: 64,478,594 S25F probably damaging Het
Cyfip1 T C 7: 55,875,021 F168L possibly damaging Het
Dhx8 T C 11: 101,764,027 probably null Het
Dnah2 T A 11: 69,499,212 I736F probably damaging Het
Erf T C 7: 25,244,544 E454G possibly damaging Het
Flnc T C 6: 29,450,719 V1482A probably benign Het
Fmn1 T C 2: 113,365,080 L375P unknown Het
Foxm1 T C 6: 128,369,360 Y85H probably damaging Het
Frem3 A G 8: 80,612,971 E631G probably damaging Het
Fsip1 T C 2: 118,240,414 D265G probably damaging Het
Gprc5c C T 11: 114,864,486 Q330* probably null Het
Grin1 C T 2: 25,305,342 V246M probably damaging Het
Ifitm3 C A 7: 141,010,650 probably benign Het
Igdcc3 G A 9: 65,183,880 V648I probably benign Het
Ighv5-2 A G 12: 113,578,594 I87T probably benign Het
Imp4 G A 1: 34,443,768 probably null Het
Ino80 T C 2: 119,380,073 N1327D probably damaging Het
Kif5a T C 10: 127,233,867 I830V possibly damaging Het
Mgea5 A T 19: 45,773,703 V237E probably damaging Het
Muc5b A G 7: 141,871,164 Y4696C possibly damaging Het
Nrl T C 14: 55,522,110 E120G probably benign Het
Nsmaf T A 4: 6,424,995 probably benign Het
Nup35 T C 2: 80,642,775 M64T probably benign Het
Nxpe2 T A 9: 48,319,659 N470I probably benign Het
Olfr109 T A 17: 37,466,449 I81N possibly damaging Het
Olfr1502 C T 19: 13,862,719 Q309* probably null Het
Os9 G A 10: 127,096,291 P604S possibly damaging Het
Pitpnm1 A G 19: 4,105,032 T287A probably benign Het
Pkd2l2 G T 18: 34,435,368 probably null Het
Pola2 A T 19: 5,948,469 I355N probably damaging Het
Pp2d1 T A 17: 53,515,994 R15* probably null Het
Prpf40a T C 2: 53,144,803 D749G probably damaging Het
Rhoh T C 5: 65,892,638 S84P probably damaging Het
Slc12a7 T C 13: 73,809,094 probably null Het
Slc37a2 A G 9: 37,233,684 I454T probably damaging Het
Smarca2 A G 19: 26,716,137 D28G probably damaging Het
Socs4 T C 14: 47,290,193 I195T probably benign Het
Svep1 A G 4: 58,123,980 probably null Het
Thoc5 T C 11: 4,922,027 probably null Het
Vmn1r173 G T 7: 23,702,896 M185I probably benign Het
Vmn1r59 T C 7: 5,454,381 S127G probably benign Het
Vmn2r6 T C 3: 64,556,189 E408G probably damaging Het
Yars A T 4: 129,215,259 I428F probably damaging Het
Zglp1 T C 9: 21,067,039 E14G possibly damaging Het
Other mutations in Thbd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Thbd APN 2 148407682 nonsense probably null
IGL01510:Thbd APN 2 148406974 missense probably damaging 1.00
IGL01845:Thbd APN 2 148407096 missense probably benign
IGL01892:Thbd APN 2 148407068 missense possibly damaging 0.68
IGL02261:Thbd APN 2 148406481 missense probably benign
IGL02941:Thbd APN 2 148407034 missense probably damaging 1.00
IGL03110:Thbd APN 2 148406796 missense probably benign
IGL03111:Thbd APN 2 148406472 missense probably benign 0.00
F5770:Thbd UTSW 2 148407190 missense probably benign 0.05
PIT4283001:Thbd UTSW 2 148407083 missense probably benign 0.19
R0102:Thbd UTSW 2 148406983 missense probably damaging 1.00
R0102:Thbd UTSW 2 148406983 missense probably damaging 1.00
R1847:Thbd UTSW 2 148407684 nonsense probably null
R1957:Thbd UTSW 2 148406979 missense probably damaging 0.97
R2320:Thbd UTSW 2 148406646 missense probably damaging 1.00
R2362:Thbd UTSW 2 148406364 missense probably damaging 1.00
R2900:Thbd UTSW 2 148406214 makesense probably null
R3623:Thbd UTSW 2 148406973 missense probably damaging 1.00
R4839:Thbd UTSW 2 148406671 missense probably damaging 1.00
R4936:Thbd UTSW 2 148407735 missense probably damaging 1.00
R5296:Thbd UTSW 2 148406983 missense probably damaging 1.00
R5521:Thbd UTSW 2 148407735 missense probably damaging 1.00
R5677:Thbd UTSW 2 148407366 missense probably damaging 1.00
R6581:Thbd UTSW 2 148406272 missense probably benign
R7139:Thbd UTSW 2 148406541 missense probably benign 0.37
R7246:Thbd UTSW 2 148406485 missense probably benign
V7582:Thbd UTSW 2 148407190 missense probably benign 0.05
Posted On2014-05-07