Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02039:Thbd'

184648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thbd

Ensembl Gene

ENSMUSG00000074743

Gene Name

thrombomodulin

Synonyms

CD141, TM

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02039

Quality Score

Status

Chromosome

Chromosomal Location

148246391-148250108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148248462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 469 (T469A)

Ref Sequence

ENSEMBL: ENSMUSP00000096877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099270]

AlphaFold

P15306

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,193 (GRCm39)	Y2313*	probably null	Het
Arhgef12	A	G	9: 42,883,563 (GRCm39)	I1323T	probably benign	Het
C87436	A	G	6: 86,430,677 (GRCm39)	M366V	probably benign	Het
Cep290	T	C	10: 100,350,464 (GRCm39)		probably null	Het
Cpsf3	T	C	12: 21,351,457 (GRCm39)	M326T	probably damaging	Het
Cpxm2	A	G	7: 131,649,482 (GRCm39)	V64A	probably damaging	Het
Csnka2ip	G	A	16: 64,298,957 (GRCm39)	S25F	probably damaging	Het
Cyfip1	T	C	7: 55,524,769 (GRCm39)	F168L	possibly damaging	Het
Dhx8	T	C	11: 101,654,853 (GRCm39)		probably null	Het
Dnah2	T	A	11: 69,390,038 (GRCm39)	I736F	probably damaging	Het
Erf	T	C	7: 24,943,969 (GRCm39)	E454G	possibly damaging	Het
Flnc	T	C	6: 29,450,718 (GRCm39)	V1482A	probably benign	Het
Fmn1	T	C	2: 113,195,425 (GRCm39)	L375P	unknown	Het
Foxm1	T	C	6: 128,346,323 (GRCm39)	Y85H	probably damaging	Het
Frem3	A	G	8: 81,339,600 (GRCm39)	E631G	probably damaging	Het
Fsip1	T	C	2: 118,070,895 (GRCm39)	D265G	probably damaging	Het
Gprc5c	C	T	11: 114,755,312 (GRCm39)	Q330*	probably null	Het
Grin1	C	T	2: 25,195,354 (GRCm39)	V246M	probably damaging	Het
Ifitm3	C	A	7: 140,590,563 (GRCm39)		probably benign	Het
Igdcc3	G	A	9: 65,091,162 (GRCm39)	V648I	probably benign	Het
Ighv5-2	A	G	12: 113,542,214 (GRCm39)	I87T	probably benign	Het
Imp4	G	A	1: 34,482,849 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,210,554 (GRCm39)	N1327D	probably damaging	Het
Kif5a	T	C	10: 127,069,736 (GRCm39)	I830V	possibly damaging	Het
Muc5b	A	G	7: 141,424,901 (GRCm39)	Y4696C	possibly damaging	Het
Nrl	T	C	14: 55,759,567 (GRCm39)	E120G	probably benign	Het
Nsmaf	T	A	4: 6,424,995 (GRCm39)		probably benign	Het
Nup35	T	C	2: 80,473,119 (GRCm39)	M64T	probably benign	Het
Nxpe2	T	A	9: 48,230,959 (GRCm39)	N470I	probably benign	Het
Oga	A	T	19: 45,762,142 (GRCm39)	V237E	probably damaging	Het
Or12d17	T	A	17: 37,777,340 (GRCm39)	I81N	possibly damaging	Het
Or9i1	C	T	19: 13,840,083 (GRCm39)	Q309*	probably null	Het
Os9	G	A	10: 126,932,160 (GRCm39)	P604S	possibly damaging	Het
Pitpnm1	A	G	19: 4,155,032 (GRCm39)	T287A	probably benign	Het
Pkd2l2	G	T	18: 34,568,421 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,497 (GRCm39)	I355N	probably damaging	Het
Pp2d1	T	A	17: 53,823,022 (GRCm39)	R15*	probably null	Het
Prpf40a	T	C	2: 53,034,815 (GRCm39)	D749G	probably damaging	Het
Rhoh	T	C	5: 66,049,981 (GRCm39)	S84P	probably damaging	Het
Slc12a7	T	C	13: 73,957,213 (GRCm39)		probably null	Het
Slc37a2	A	G	9: 37,144,980 (GRCm39)	I454T	probably damaging	Het
Smarca2	A	G	19: 26,693,537 (GRCm39)	D28G	probably damaging	Het
Socs4	T	C	14: 47,527,650 (GRCm39)	I195T	probably benign	Het
Svep1	A	G	4: 58,123,980 (GRCm39)		probably null	Het
Thoc5	T	C	11: 4,872,027 (GRCm39)		probably null	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Vmn1r59	T	C	7: 5,457,380 (GRCm39)	S127G	probably benign	Het
Vmn2r6	T	C	3: 64,463,610 (GRCm39)	E408G	probably damaging	Het
Yars1	A	T	4: 129,109,052 (GRCm39)	I428F	probably damaging	Het
Zglp1	T	C	9: 20,978,335 (GRCm39)	E14G	possibly damaging	Het

Other mutations in Thbd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Thbd	APN	2	148,249,602 (GRCm39)	nonsense	probably null
IGL01510:Thbd	APN	2	148,248,894 (GRCm39)	missense	probably damaging	1.00
IGL01845:Thbd	APN	2	148,249,016 (GRCm39)	missense	probably benign
IGL01892:Thbd	APN	2	148,248,988 (GRCm39)	missense	possibly damaging	0.68
IGL02261:Thbd	APN	2	148,248,401 (GRCm39)	missense	probably benign
IGL02941:Thbd	APN	2	148,248,954 (GRCm39)	missense	probably damaging	1.00
IGL03110:Thbd	APN	2	148,248,716 (GRCm39)	missense	probably benign
IGL03111:Thbd	APN	2	148,248,392 (GRCm39)	missense	probably benign	0.00
F5770:Thbd	UTSW	2	148,249,110 (GRCm39)	missense	probably benign	0.05
PIT4283001:Thbd	UTSW	2	148,249,003 (GRCm39)	missense	probably benign	0.19
R0102:Thbd	UTSW	2	148,248,903 (GRCm39)	missense	probably damaging	1.00
R0102:Thbd	UTSW	2	148,248,903 (GRCm39)	missense	probably damaging	1.00
R1847:Thbd	UTSW	2	148,249,604 (GRCm39)	nonsense	probably null
R1957:Thbd	UTSW	2	148,248,899 (GRCm39)	missense	probably damaging	0.97
R2320:Thbd	UTSW	2	148,248,566 (GRCm39)	missense	probably damaging	1.00
R2362:Thbd	UTSW	2	148,248,284 (GRCm39)	missense	probably damaging	1.00
R2900:Thbd	UTSW	2	148,248,134 (GRCm39)	makesense	probably null
R3623:Thbd	UTSW	2	148,248,893 (GRCm39)	missense	probably damaging	1.00
R4839:Thbd	UTSW	2	148,248,591 (GRCm39)	missense	probably damaging	1.00
R4936:Thbd	UTSW	2	148,249,655 (GRCm39)	missense	probably damaging	1.00
R5296:Thbd	UTSW	2	148,248,903 (GRCm39)	missense	probably damaging	1.00
R5521:Thbd	UTSW	2	148,249,655 (GRCm39)	missense	probably damaging	1.00
R5677:Thbd	UTSW	2	148,249,286 (GRCm39)	missense	probably damaging	1.00
R6581:Thbd	UTSW	2	148,248,192 (GRCm39)	missense	probably benign
R7139:Thbd	UTSW	2	148,248,461 (GRCm39)	missense	probably benign	0.37
R7246:Thbd	UTSW	2	148,248,405 (GRCm39)	missense	probably benign
R7655:Thbd	UTSW	2	148,249,340 (GRCm39)	missense	probably damaging	1.00
R7656:Thbd	UTSW	2	148,249,340 (GRCm39)	missense	probably damaging	1.00
R7752:Thbd	UTSW	2	148,248,894 (GRCm39)	missense	probably damaging	0.99
R7867:Thbd	UTSW	2	148,249,664 (GRCm39)	missense	probably damaging	1.00
R8398:Thbd	UTSW	2	148,248,600 (GRCm39)	missense	probably benign	0.00
R8429:Thbd	UTSW	2	148,249,457 (GRCm39)	missense	possibly damaging	0.70
R8986:Thbd	UTSW	2	148,248,480 (GRCm39)	missense	probably damaging	1.00
V7582:Thbd	UTSW	2	148,249,110 (GRCm39)	missense	probably benign	0.05

Posted On

2014-05-07