Mutagenetix > Incidental Mutation

Incidental Mutation 'R5296:Thbd'

405394

Institutional Source

Beutler Lab

Gene Symbol

Thbd

Ensembl Gene

ENSMUSG00000074743

Gene Name

thrombomodulin

Synonyms

CD141, TM

MMRRC Submission

042879-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

148246391-148250108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 148248903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 322 (C322S)

Ref Sequence

ENSEMBL: ENSMUSP00000096877 (fasta)

Gene Model

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

AlphaFold

P15306

Predicted Effect

probably damaging
Transcript: ENSMUST00000099270
AA Change: C322S

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

SMART Domains

Protein: ENSMUSP00000096877
Gene: ENSMUSG00000074743
AA Change: C322S

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

Meta Mutation Damage Score

0.9667

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

100% (65/65)

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
Apobr	A	C	7: 126,187,196 (GRCm39)	D89A	probably damaging	Het
Bhlhe41	C	T	6: 145,808,694 (GRCm39)		probably benign	Het
Cacna1s	G	A	1: 136,023,523 (GRCm39)	V674M	probably benign	Het
Cavin2	T	C	1: 51,329,029 (GRCm39)		probably null	Het
Cd300lb	T	C	11: 114,815,763 (GRCm39)	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,407,121 (GRCm39)	V132A	probably benign	Het
Ddi2	G	T	4: 141,412,076 (GRCm39)	Q279K	probably benign	Het
Dnah11	A	G	12: 117,847,151 (GRCm39)	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Epsti1	T	A	14: 78,142,090 (GRCm39)	H55Q	probably benign	Het
Flad1	T	C	3: 89,318,503 (GRCm39)	T17A	probably damaging	Het
Fzd2	C	T	11: 102,496,981 (GRCm39)	T475M	probably damaging	Het
Gemin5	C	A	11: 58,020,887 (GRCm39)	W1099L	probably damaging	Het
Gm9892	T	C	8: 52,649,964 (GRCm39)		noncoding transcript	Het
Gmeb2	A	G	2: 180,897,779 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,765,833 (GRCm39)	E55G	probably damaging	Het
Gvin-ps3	A	T	7: 105,681,055 (GRCm39)		noncoding transcript	Het
Hltf	T	C	3: 20,162,276 (GRCm39)	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,139,820 (GRCm39)	Q902L	probably null	Het
Kcnt2	C	T	1: 140,537,353 (GRCm39)	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lama5	A	C	2: 179,835,594 (GRCm39)	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,701,567 (GRCm39)	S230A	probably benign	Het
Lmcd1	A	G	6: 112,292,549 (GRCm39)	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,751,445 (GRCm39)	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,590,961 (GRCm39)	I234N	probably damaging	Het
Mroh3	A	G	1: 136,124,061 (GRCm39)	S386P	probably damaging	Het
Mylk3	A	C	8: 86,082,060 (GRCm39)	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,786,032 (GRCm39)	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,555,745 (GRCm39)	S2G	unknown	Het
Olfr908	T	C	9: 38,427,412 (GRCm39)	F28S	probably damaging	Het
Or10z1	G	T	1: 174,078,322 (GRCm39)	T57K	possibly damaging	Het
Or2n1d	C	T	17: 38,646,347 (GRCm39)	Q100*	probably null	Het
Or4x6	A	T	2: 89,949,043 (GRCm39)	W300R	probably damaging	Het
Pkd1	T	C	17: 24,795,048 (GRCm39)	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,701,319 (GRCm39)	T1539I	possibly damaging	Het
Plch2	G	T	4: 155,074,456 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,434,609 (GRCm39)	R34H	probably damaging	Het
Rgs12	T	C	5: 35,178,448 (GRCm39)		probably benign	Het
Ruvbl1	T	C	6: 88,462,890 (GRCm39)	I338T	probably damaging	Het
Sapcd1	T	A	17: 35,245,707 (GRCm39)	Q104L	probably damaging	Het
Satb2	T	C	1: 56,836,066 (GRCm39)	E575G	probably damaging	Het
Sema6b	T	A	17: 56,434,091 (GRCm39)		probably null	Het
Slc25a11	T	C	11: 70,537,011 (GRCm39)	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,737,845 (GRCm39)	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,564,444 (GRCm39)	T906K	possibly damaging	Het
Traf2	A	G	2: 25,410,452 (GRCm39)	L399P	probably damaging	Het
Troap	T	A	15: 98,976,698 (GRCm39)	V274D	probably damaging	Het
Utrn	G	A	10: 12,277,099 (GRCm39)	T3406M	probably damaging	Het
Uts2	G	T	4: 151,083,508 (GRCm39)	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,774,603 (GRCm39)	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 84,786,230 (GRCm39)	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,559 (GRCm39)	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,553,981 (GRCm39)	M51K	probably damaging	Het
Zfp60	T	A	7: 27,437,955 (GRCm39)		probably benign	Het
Zfp882	T	A	8: 72,668,204 (GRCm39)	F344I	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
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

Predicted Primers

PCR Primer
(F):5'- CAGAACATTTCGCACTTGTGC -3'
(R):5'- GAATGAACCCAGATGCCTCTGC -3'

Sequencing Primer
(F):5'- AGCGCAGATGCATCGGTAGTC -3'
(R):5'- TCTGCCCCAGAGACATGGAC -3'

Posted On

2016-07-22