Mutagenetix > Incidental Mutation

Incidental Mutation 'R7656:Thbd'

591181

Institutional Source

Beutler Lab

Gene Symbol

Thbd

Ensembl Gene

ENSMUSG00000074743

Gene Name

thrombomodulin

Synonyms

CD141, TM

MMRRC Submission

045732-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7656 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

148246391-148250108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 148249340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 176 (L176P)

Ref Sequence

ENSEMBL: ENSMUSP00000096877 (fasta)

Gene Model

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

AlphaFold

P15306

Predicted Effect

probably damaging
Transcript: ENSMUST00000099270
AA Change: L176P

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

SMART Domains

Protein: ENSMUSP00000096877
Gene: ENSMUSG00000074743
AA Change: L176P

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: 99.6%
20x: 98.9%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abitram	A	G	4: 56,804,218 (GRCm39)	I78V	probably benign	Het
Acot2	A	G	12: 84,039,691 (GRCm39)	Y400C	probably benign	Het
Agbl1	A	G	7: 76,059,080 (GRCm39)	M237V		Het
Atrnl1	C	A	19: 57,599,811 (GRCm39)	S9*	probably null	Het
BC031181	A	T	18: 75,142,406 (GRCm39)	K71*	probably null	Het
Bmal2	A	G	6: 146,707,940 (GRCm39)	T21A	probably benign	Het
Brpf1	A	T	6: 113,291,835 (GRCm39)	M294L	probably benign	Het
Camk2g	T	G	14: 20,789,410 (GRCm39)	D382A	possibly damaging	Het
Ccdc33	T	A	9: 58,025,748 (GRCm39)	R94W	probably damaging	Het
Cd244a	T	A	1: 171,404,823 (GRCm39)	L225Q	probably damaging	Het
Chsy1	G	T	7: 65,820,778 (GRCm39)	V338F	probably damaging	Het
Col14a1	A	G	15: 55,225,846 (GRCm39)	I170V	unknown	Het
Col6a2	G	T	10: 76,443,590 (GRCm39)	Q492K	probably benign	Het
Dnah12	G	T	14: 26,581,273 (GRCm39)	V3168L	probably benign	Het
Dnah7a	T	C	1: 53,535,164 (GRCm39)	S2699G	possibly damaging	Het
Efhc1	A	G	1: 21,031,281 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,807,886 (GRCm39)	K1402E	possibly damaging	Het
Ghdc	C	T	11: 100,660,493 (GRCm39)	A127T	probably benign	Het
Glp1r	T	C	17: 31,149,572 (GRCm39)		probably null	Het
Gm19410	A	T	8: 36,276,253 (GRCm39)	M1637L	probably benign	Het
Grm5	T	G	7: 87,779,459 (GRCm39)	D998E	probably benign	Het
Krtcap3	A	G	5: 31,409,904 (GRCm39)	T157A	probably damaging	Het
Ltf	A	T	9: 110,853,462 (GRCm39)	K18*	probably null	Het
Luc7l2	A	G	6: 38,580,399 (GRCm39)	R333G	unknown	Het
Mdc1	T	G	17: 36,161,773 (GRCm39)	S895R	probably benign	Het
Mef2a	G	A	7: 66,945,142 (GRCm39)	T80M	probably damaging	Het
Mitd1	T	A	1: 37,924,356 (GRCm39)	I65F	probably benign	Het
Mms19	A	G	19: 41,933,011 (GRCm39)	L1026P	probably damaging	Het
Mtbp	G	T	15: 55,472,922 (GRCm39)	V629L	unknown	Het
Ncapd3	T	A	9: 26,966,801 (GRCm39)	I545N	possibly damaging	Het
Nin	G	A	12: 70,089,542 (GRCm39)	T1291M		Het
Or10z1	T	A	1: 174,077,784 (GRCm39)	K236N	probably damaging	Het
Or5b123	A	T	19: 13,597,197 (GRCm39)	I181F	probably damaging	Het
Orc3	G	T	4: 34,587,032 (GRCm39)	C352*	probably null	Het
Oxct2b	G	A	4: 123,011,550 (GRCm39)	G490D	probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Phkg2	G	A	7: 127,182,074 (GRCm39)	G365D	probably damaging	Het
Pira1	T	C	7: 3,742,281 (GRCm39)	E82G	probably damaging	Het
Plekhd1	A	G	12: 80,768,934 (GRCm39)		probably null	Het
Ppp2r3d	A	T	9: 101,088,911 (GRCm39)	F471I	probably benign	Het
Prl3d1	T	C	13: 27,284,018 (GRCm39)	C196R	possibly damaging	Het
Prmt1	A	T	7: 44,633,552 (GRCm39)	F14L	probably benign	Het
Prox1	A	G	1: 189,894,418 (GRCm39)	L9P	probably damaging	Het
Ptpn13	T	A	5: 103,688,849 (GRCm39)	F881I	probably benign	Het
Rab3ip	A	G	10: 116,750,044 (GRCm39)	I363T	probably benign	Het
Rapgef3	T	C	15: 97,659,090 (GRCm39)	E134G	probably damaging	Het
Rapgef6	C	T	11: 54,585,279 (GRCm39)	P1559L	probably benign	Het
Rnf180	T	C	13: 105,304,096 (GRCm39)	K507E	probably damaging	Het
Rpl3l	T	C	17: 24,949,960 (GRCm39)	I53T	probably benign	Het
Rtl1	T	C	12: 109,557,442 (GRCm39)	I1466V	unknown	Het
Saxo2	A	G	7: 82,284,559 (GRCm39)	Y100H	probably damaging	Het
Selenoh	G	T	2: 84,500,724 (GRCm39)	R39S	probably damaging	Het
Sgsm2	A	G	11: 74,756,323 (GRCm39)	V342A	probably damaging	Het
Slc26a9	T	A	1: 131,690,982 (GRCm39)	F587I	possibly damaging	Het
Smoc1	A	T	12: 81,152,682 (GRCm39)	Q91L	possibly damaging	Het
Spag9	A	C	11: 93,887,389 (GRCm39)	H98P	possibly damaging	Het
Spata31e3	T	G	13: 50,401,122 (GRCm39)	K401N	probably benign	Het
T2	T	A	17: 8,637,047 (GRCm39)	C337*	probably null	Het
Tbc1d19	A	G	5: 54,054,377 (GRCm39)	Y455C	probably damaging	Het
Tmem116	A	G	5: 121,590,252 (GRCm39)		probably null	Het
Tmem25	C	T	9: 44,709,640 (GRCm39)	V54I	possibly damaging	Het
Trpm4	C	T	7: 44,971,233 (GRCm39)	V378I	probably benign	Het
Trrap	G	T	5: 144,779,422 (GRCm39)	W3129C	probably damaging	Het
Ttn	A	T	2: 76,558,660 (GRCm39)	D29740E	probably damaging	Het
Vcan	C	T	13: 89,833,233 (GRCm39)	C3073Y	probably damaging	Het
Xrra1	T	A	7: 99,560,189 (GRCm39)	D388E	probably benign	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
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'- TGCAATTCCAGGCTCCTGTC -3'
(R):5'- TTACTGGCGATAACCACACCAG -3'

Sequencing Primer
(F):5'- TCCCAAGCCCAGTGTCC -3'
(R):5'- CACACCAGTTACAGCAGGTGG -3'

Posted On

2019-11-12