Mutagenetix > Incidental Mutation

Incidental Mutation 'R8986:Thbd'

684011

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 #

R8986 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148246391-148250108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148248480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 463 (C463S)

Ref Sequence

ENSEMBL: ENSMUSP00000096877 (fasta)

Gene Model

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

AlphaFold

P15306

Predicted Effect

probably damaging
Transcript: ENSMUST00000099270
AA Change: C463S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096877
Gene: ENSMUSG00000074743
AA Change: C463S

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (57/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Adamts10	C	T	17: 33,762,668 (GRCm39)	A549V	probably benign	Het
Akap13	T	C	7: 75,259,074 (GRCm39)	M566T	probably benign	Het
Alb	A	G	5: 90,615,225 (GRCm39)	T246A	probably benign	Het
Cyfip1	C	T	7: 55,558,140 (GRCm39)	R806C	probably damaging	Het
Cyp11a1	T	A	9: 57,925,644 (GRCm39)	I195N	probably damaging	Het
Dclre1a	C	G	19: 56,526,826 (GRCm39)	Q863H		Het
Ddx19a	A	G	8: 111,705,188 (GRCm39)	V311A	probably benign	Het
Dnajc13	A	T	9: 104,057,330 (GRCm39)	F1557I	probably damaging	Het
Eml6	T	A	11: 29,755,181 (GRCm39)	T865S	possibly damaging	Het
Esrrg	T	A	1: 187,943,104 (GRCm39)	I382K	possibly damaging	Het
Fam149a	G	A	8: 45,811,837 (GRCm39)	T22M		Het
Fam227b	A	T	2: 125,958,019 (GRCm39)	Y249N	probably damaging	Het
Fanci	G	A	7: 79,095,472 (GRCm39)	V1217I	probably benign	Het
Fermt2	A	G	14: 45,742,023 (GRCm39)	Y108H	probably benign	Het
Gkn1	A	T	6: 87,325,160 (GRCm39)	V83E	probably damaging	Het
Glmp	T	A	3: 88,233,002 (GRCm39)	S47T	probably benign	Het
Greb1	T	C	12: 16,734,457 (GRCm39)	H1511R	probably damaging	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Htra3	A	T	5: 35,836,372 (GRCm39)	C107S	probably damaging	Het
Ighv1-58	T	C	12: 115,275,835 (GRCm39)	Q101R	probably benign	Het
Ighv6-5	A	T	12: 114,380,382 (GRCm39)	L45*	probably null	Het
Igtp	T	A	11: 58,096,947 (GRCm39)		probably null	Het
Il1rap	T	C	16: 26,533,696 (GRCm39)	S531P	probably damaging	Het
Kcnd3	A	T	3: 105,367,039 (GRCm39)	H303L	probably damaging	Het
Kcnj3	G	T	2: 55,485,039 (GRCm39)	S379I	probably benign	Het
Lrrc36	T	C	8: 106,176,093 (GRCm39)	S156P	possibly damaging	Het
Mical3	G	T	6: 120,991,822 (GRCm39)	D250E		Het
Msh3	T	C	13: 92,483,334 (GRCm39)	T270A	probably damaging	Het
Myrfl	A	G	10: 116,658,746 (GRCm39)	W404R	probably damaging	Het
Nol7	T	C	13: 43,554,985 (GRCm39)	F206S	probably damaging	Het
Obi1	T	C	14: 104,745,418 (GRCm39)	H86R	probably damaging	Het
Or12e13	A	T	2: 87,663,655 (GRCm39)	I91F	possibly damaging	Het
Or2ag1	A	G	7: 106,473,050 (GRCm39)	I134T	probably benign	Het
Paox	A	G	7: 139,706,503 (GRCm39)	E141G	probably benign	Het
Plod1	A	T	4: 147,997,734 (GRCm39)	H658Q	probably damaging	Het
Pou4f1	T	C	14: 104,704,087 (GRCm39)	D115G	probably damaging	Het
Ppp1r26	G	T	2: 28,342,802 (GRCm39)	E811*	probably null	Het
Qsox1	C	T	1: 155,666,829 (GRCm39)	R220K	probably damaging	Het
Rabgap1l	C	T	1: 160,085,105 (GRCm39)	V781I	probably damaging	Het
Rad50	T	C	11: 53,541,354 (GRCm39)	D1294G	possibly damaging	Het
Rbp7	C	T	4: 149,537,371 (GRCm39)	V97I	probably benign	Het
Rrad	C	T	8: 105,355,222 (GRCm39)	R262Q	possibly damaging	Het
Sdcbp2	T	C	2: 151,429,150 (GRCm39)	V183A	probably benign	Het
Slfn2	C	G	11: 82,960,427 (GRCm39)	I135M	possibly damaging	Het
Sntg1	T	A	1: 8,484,491 (GRCm39)	D443V	possibly damaging	Het
Tas2r105	G	A	6: 131,663,913 (GRCm39)	Q172*	probably null	Het
Tfdp2	A	G	9: 96,172,637 (GRCm39)	R44G	probably damaging	Het
Tnxb	T	C	17: 34,897,646 (GRCm39)	V807A	possibly damaging	Het
Trim68	T	A	7: 102,327,808 (GRCm39)	K382*	probably null	Het
Vmn2r110	T	A	17: 20,803,823 (GRCm39)	I251F	probably damaging	Het
Vmn2r61	A	T	7: 41,915,325 (GRCm39)	R91*	probably null	Het
Vmn2r-ps117	G	A	17: 19,044,943 (GRCm39)	W453*	probably null	Het
Zc3h18	T	C	8: 123,134,193 (GRCm39)	V553A	unknown	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp791	A	G	8: 85,837,327 (GRCm39)	F179S	probably benign	Het
Zyg11a	A	T	4: 108,041,628 (GRCm39)		probably null	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
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
V7582:Thbd	UTSW	2	148,249,110 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTCTTGCGCAGGTGACAGAG -3'
(R):5'- TGCAATGAAACTTCGTGCCC -3'

Sequencing Primer
(F):5'- GAGATGCCAATGAGCACGCC -3'
(R):5'- TGAAACTTCGTGCCCAGCAG -3'

Posted On

2021-10-11