Mutagenetix > Incidental Mutation

Incidental Mutation 'R7139:Thbd'

553244

Institutional Source

Beutler Lab

Gene Symbol

Thbd

Ensembl Gene

ENSMUSG00000074743

Gene Name

thrombomodulin

Synonyms

CD141, TM

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148246391-148250108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 148248461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 469 (T469K)

Ref Sequence

ENSEMBL: ENSMUSP00000096877 (fasta)

Gene Model

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

AlphaFold

P15306

Predicted Effect

probably benign
Transcript: ENSMUST00000099270
AA Change: T469K

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096877
Gene: ENSMUSG00000074743
AA Change: T469K

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,026,295 (GRCm39)	R272G	possibly damaging	Het
4930512M02Rik	T	A	11: 11,540,078 (GRCm39)	N179Y	unknown	Het
4930562C15Rik	A	T	16: 4,668,048 (GRCm39)	M480L	probably benign	Het
Abcd4	A	G	12: 84,653,072 (GRCm39)	C377R	probably benign	Het
Adam23	C	A	1: 63,584,736 (GRCm39)	D381E	probably damaging	Het
Angpt1	T	A	15: 42,539,747 (GRCm39)	Q37H	probably damaging	Het
Apeh	A	T	9: 107,969,345 (GRCm39)	F260I	probably damaging	Het
Cadps2	T	C	6: 23,410,888 (GRCm39)	Y681C	probably damaging	Het
Ccdc162	T	C	10: 41,542,717 (GRCm39)	M386V	possibly damaging	Het
Celsr2	T	C	3: 108,322,675 (GRCm39)	S46G	unknown	Het
Cfc1	T	C	1: 34,575,560 (GRCm39)	L78P	probably benign	Het
Chd7	T	C	4: 8,865,865 (GRCm39)	V2724A	probably benign	Het
Clca3a1	A	T	3: 144,461,063 (GRCm39)	V196E	possibly damaging	Het
Cma1	T	C	14: 56,181,273 (GRCm39)	H44R	probably damaging	Het
Cnot2	T	C	10: 116,330,924 (GRCm39)	N394S	probably benign	Het
Cplx3	A	T	9: 57,522,879 (GRCm39)	H160Q	probably benign	Het
Cstf3	A	T	2: 104,483,409 (GRCm39)	I372F	possibly damaging	Het
Cyb5rl	A	C	4: 106,928,208 (GRCm39)	I115L	probably benign	Het
D5Ertd579e	A	G	5: 36,771,320 (GRCm39)	L1025P	probably damaging	Het
Dmtn	T	C	14: 70,854,867 (GRCm39)	N36S	probably benign	Het
Dnah6	A	G	6: 73,112,663 (GRCm39)	V1647A	probably damaging	Het
Dock6	T	C	9: 21,712,572 (GRCm39)	Y2063C	probably damaging	Het
Dst	T	A	1: 34,338,888 (GRCm39)	D5149E	probably damaging	Het
Fancl	A	G	11: 26,353,358 (GRCm39)	M85V	probably benign	Het
Fgd2	T	A	17: 29,592,229 (GRCm39)	F387Y	probably damaging	Het
Fshr	A	T	17: 89,293,589 (GRCm39)	I363N	possibly damaging	Het
Glce	G	T	9: 61,977,716 (GRCm39)	S56*	probably null	Het
Gm26727	A	T	2: 67,263,381 (GRCm39)	S49T	unknown	Het
Gm36210	T	A	7: 4,902,277 (GRCm39)	D131V	probably damaging	Het
Gm5089	T	C	14: 122,673,403 (GRCm39)	D106G	unknown	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
H2-Eb2	C	T	17: 34,553,395 (GRCm39)	R194W	probably benign	Het
Hivep1	A	T	13: 42,313,430 (GRCm39)	E1890V	probably benign	Het
Ighv1-53	A	T	12: 115,122,441 (GRCm39)	C5*	probably null	Het
Ighv2-5	T	A	12: 113,649,219 (GRCm39)	Y78F	probably benign	Het
Il9	C	T	13: 56,628,426 (GRCm39)	V88I	probably benign	Het
Kidins220	A	G	12: 25,044,820 (GRCm39)	T163A	probably damaging	Het
Lama4	G	T	10: 38,951,491 (GRCm39)	D1079Y	probably damaging	Het
Lrrc34	T	C	3: 30,679,036 (GRCm39)	I354V	probably benign	Het
Macroh2a2	T	A	10: 61,593,674 (GRCm39)	M1L	unknown	Het
Mpeg1	A	T	19: 12,439,078 (GRCm39)	T179S	probably benign	Het
Mrgpra2a	A	T	7: 47,076,337 (GRCm39)	L307H	probably damaging	Het
Mst1	G	A	9: 107,960,027 (GRCm39)	R328H	probably damaging	Het
Muc21	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,933,525 (GRCm39)		probably benign	Het
Nav3	C	A	10: 109,689,338 (GRCm39)	S313I	probably benign	Het
Nmt2	T	G	2: 3,285,352 (GRCm39)	S7A	probably benign	Het
Nsmce1	T	C	7: 125,068,254 (GRCm39)	S197G	probably benign	Het
Ociad2	A	G	5: 73,493,218 (GRCm39)	V4A	probably benign	Het
Or56a41	G	T	7: 104,742,005 (GRCm39)	T7K	probably benign	Het
Osmr	T	C	15: 6,850,569 (GRCm39)	D679G	possibly damaging	Het
Pappa	T	A	4: 65,107,687 (GRCm39)	F699L	probably benign	Het
Parp8	T	A	13: 117,161,802 (GRCm39)	M40L	probably benign	Het
Pcyox1	A	T	6: 86,371,519 (GRCm39)	N122K	possibly damaging	Het
Pkd1l1	T	C	11: 8,840,737 (GRCm39)	S1224G		Het
Pkd1l3	T	A	8: 110,362,972 (GRCm39)	S1088T	probably damaging	Het
Prrt1	T	C	17: 34,850,051 (GRCm39)	V155A	probably benign	Het
Rbm6	A	C	9: 107,730,410 (GRCm39)	D79E	probably damaging	Het
Sec31b	A	T	19: 44,507,375 (GRCm39)	S819T	probably benign	Het
Slc22a27	A	T	19: 7,903,912 (GRCm39)	I75N	probably damaging	Het
Slc25a54	G	A	3: 109,005,905 (GRCm39)	G138R	probably damaging	Het
Slc6a12	T	C	6: 121,342,278 (GRCm39)	S612P	probably benign	Het
Slc7a2	A	T	8: 41,368,050 (GRCm39)	I605F	probably benign	Het
Slit2	A	G	5: 48,402,025 (GRCm39)	T805A	probably benign	Het
Strbp	A	T	2: 37,514,514 (GRCm39)	H308Q	probably benign	Het
Stxbp4	G	A	11: 90,497,835 (GRCm39)	Q155*	probably null	Het
Sybu	A	T	15: 44,541,110 (GRCm39)	N317K	possibly damaging	Het
Taok1	G	A	11: 77,462,459 (GRCm39)	S210F	probably damaging	Het
Tapbp	A	G	17: 34,139,022 (GRCm39)	D72G	possibly damaging	Het
Tia1	T	C	6: 86,404,670 (GRCm39)	Y302H	possibly damaging	Het
Tlr4	T	C	4: 66,758,520 (GRCm39)	F438L	probably benign	Het
Tmem235	C	T	11: 117,751,723 (GRCm39)	S49L	probably damaging	Het
Trip4	A	G	9: 65,792,503 (GRCm39)		probably benign	Het
Trrap	C	A	5: 144,739,988 (GRCm39)	L1137I	possibly damaging	Het
Vmo1	T	C	11: 70,404,674 (GRCm39)	E109G	probably benign	Het
Wdfy4	T	C	14: 32,873,535 (GRCm39)	Y258C		Het
Wdr91	T	G	6: 34,885,198 (GRCm39)	N121T	possibly damaging	Het
Zfp39	T	C	11: 58,781,385 (GRCm39)	H459R	probably damaging	Het
Zfp936	T	A	7: 42,839,715 (GRCm39)	I394K	possibly damaging	Het
Zpr1	G	A	9: 46,192,357 (GRCm39)	D423N	probably 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
IGL02039:Thbd	APN	2	148,248,462 (GRCm39)	missense	probably benign	0.05
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
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

Predicted Primers

PCR Primer
(F):5'- GATGCGCACTTGTACTCCAG -3'
(R):5'- GCAGACTGTGACCCTAACTC -3'

Sequencing Primer
(F):5'- CTTCTTGCGCAGGTGACAGAG -3'
(R):5'- AGACTGTGACCCTAACTCTCCTACTG -3'

Posted On

2019-05-15