Mutagenetix > Incidental Mutations

Incidental Mutation 'R1702:Thbs1'

189772

Institutional Source

Beutler Lab

Gene Symbol

Thbs1

Ensembl Gene

ENSMUSG00000040152

Gene Name

thrombospondin 1

Synonyms

TSP-1, TSP1, tbsp1, Thbs-1

MMRRC Submission

039735-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118111876-118127133 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118113442 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 180 (D180E)

Ref Sequence

ENSEMBL: ENSMUSP00000044903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039559]

Predicted Effect

probably benign
Transcript: ENSMUST00000039559
AA Change: D180E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044903
Gene: ENSMUSG00000040152
AA Change: D180E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
TSPN	24	221	2.68e-60	SMART
low complexity region	237	249	N/A	INTRINSIC
coiled coil region	292	315	N/A	INTRINSIC
VWC	319	373	3.6e-20	SMART
TSP1	383	430	4.21e-12	SMART
TSP1	439	491	3.04e-18	SMART
TSP1	496	548	8.6e-18	SMART
EGF	551	588	3.88e-3	SMART
EGF	592	646	1.69e1	SMART
EGF	650	691	7.13e-2	SMART
Pfam:TSP_3	728	763	5.8e-12	PFAM
Pfam:TSP_3	763	786	2.1e-5	PFAM
Pfam:TSP_3	787	822	3.3e-13	PFAM
Pfam:TSP_3	822	845	1.1e-6	PFAM
Pfam:TSP_3	846	883	2e-15	PFAM
Pfam:TSP_3	884	919	8.3e-13	PFAM
Pfam:TSP_3	920	954	4.9e-10	PFAM
Pfam:TSP_C	973	1170	1.4e-99	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138764

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148587

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice show partial prenatal lethality, lordosis, kyphosis, leukocytosis, multiorgan inflammation, lung hemorrhage, pneumonia, resistance to radiation and ischemic injury, altered blood pressure and vasoactive stress responses, eye pathology, and corneal and lacrimal gland dysfunction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,289,028	C2126S	probably damaging	Het
Abca15	T	C	7: 120,382,702	V1080A	probably benign	Het
Abcg4	A	C	9: 44,275,073	V553G	probably damaging	Het
Ache	T	C	5: 137,290,989	V319A	possibly damaging	Het
Acsm2	T	A	7: 119,573,564	M134K	possibly damaging	Het
Ank2	A	T	3: 126,955,899	S494T	probably benign	Het
Asic3	A	T	5: 24,415,456	T202S	probably damaging	Het
Baiap3	T	A	17: 25,244,805	H886L	probably damaging	Het
Cidea	T	A	18: 67,366,421	I126K	probably damaging	Het
Cmklr1	T	G	5: 113,613,842	K366T	probably benign	Het
Cntrl	A	T	2: 35,171,836		probably null	Het
Crhr2	A	G	6: 55,092,535	F378S	probably damaging	Het
Deaf1	C	G	7: 141,314,954	R303T	probably damaging	Het
Dnah9	T	A	11: 66,085,195	N1343Y	possibly damaging	Het
Dopey2	A	G	16: 93,747,621	K99E	possibly damaging	Het
Dpp4	A	T	2: 62,386,429		probably null	Het
Dst	T	C	1: 34,167,340	V598A	probably damaging	Het
Ece2	C	T	16: 20,631,246	R136C	probably damaging	Het
Egf	C	A	3: 129,690,811	V453L	probably benign	Het
Egr3	T	A	14: 70,079,767	F342L	probably damaging	Het
Eif2ak2	A	T	17: 78,856,634	I434N	probably damaging	Het
Emc1	A	G	4: 139,375,201	T936A	probably damaging	Het
Fmod	A	T	1: 134,040,762	E180V	probably damaging	Het
Gabrg3	T	C	7: 56,985,100	T112A	probably damaging	Het
Gak	T	C	5: 108,606,376		probably null	Het
Gas2	T	A	7: 51,953,341		probably null	Het
Gm11639	C	T	11: 104,691,006	P58L	probably benign	Het
Gm2381	T	A	7: 42,820,231	Q156H	probably benign	Het
Golga2	T	A	2: 32,299,275	S273T	probably damaging	Het
Homez	T	A	14: 54,856,995	T419S	probably damaging	Het
Igfbp6	T	A	15: 102,148,182	Y184*	probably null	Het
Il11	A	G	7: 4,773,734	S86P	probably damaging	Het
Itgal	A	G	7: 127,305,025	N270S	probably benign	Het
Lama2	T	C	10: 27,190,529	R1119G	probably benign	Het
Lamp3	G	T	16: 19,676,072	N294K	probably benign	Het
Mars	T	C	10: 127,310,079	I113M	possibly damaging	Het
Mgat5b	A	G	11: 116,948,659	T334A	possibly damaging	Het
Mis18bp1	A	G	12: 65,161,744	I65T	probably benign	Het
Mmrn2	A	T	14: 34,397,914	N247I	probably benign	Het
Muc6	G	T	7: 141,650,487	N322K	probably damaging	Het
Mx2	A	G	16: 97,558,683	H551R	probably benign	Het
Mylk	T	A	16: 34,921,944	V942E	probably benign	Het
Nes	A	G	3: 87,975,979	E515G	probably benign	Het
Nfatc3	T	G	8: 106,092,160	S503R	probably damaging	Het
Nkain3	C	A	4: 20,158,339		probably null	Het
Noxa1	A	G	2: 25,092,584	V73A	probably damaging	Het
Nup160	A	T	2: 90,683,958	E83D	probably damaging	Het
Olfr1427	C	A	19: 12,099,166	V158L	probably benign	Het
Olfr205	C	A	16: 59,329,141	V123L	probably benign	Het
Olfr530	A	T	7: 140,372,742	Y289*	probably null	Het
Olfr923	A	G	9: 38,828,543	Y284C	probably damaging	Het
Plxnb2	A	G	15: 89,161,984		probably null	Het
Rundc3b	A	G	5: 8,512,318	V350A	probably benign	Het
Scn1a	C	T	2: 66,318,223	D993N	probably damaging	Het
Sec24c	G	T	14: 20,686,573	G226V	probably null	Het
Sept11	T	A	5: 93,156,924	I200N	probably damaging	Het
Shank3	G	T	15: 89,499,896	G14C	probably damaging	Het
Slc25a39	T	C	11: 102,406,626	D5G	possibly damaging	Het
Stoml3	A	T	3: 53,505,431	T169S	probably benign	Het
Taf1b	T	A	12: 24,509,126	I83K	possibly damaging	Het
Tarbp1	T	A	8: 126,428,218	Q1389L	probably damaging	Het
Tmc5	T	A	7: 118,672,239	V925D	probably benign	Het
Tmem62	T	C	2: 120,979,227	V130A	probably damaging	Het
Tpp2	C	T	1: 43,990,548	P997L	probably damaging	Het
Trip12	A	T	1: 84,745,063	I127N	probably damaging	Het
Ttc37	A	G	13: 76,122,743	K153R	possibly damaging	Het
Upp2	T	C	2: 58,771,550	F142L	possibly damaging	Het
Usf3	C	T	16: 44,219,632	Q1492*	probably null	Het
Vcp	T	C	4: 42,990,840	D205G	probably damaging	Het
Vmn1r180	G	A	7: 23,952,969	V186I	possibly damaging	Het
Washc2	T	C	6: 116,229,306	S496P	probably damaging	Het
Wee2	T	C	6: 40,464,201	I480T	probably benign	Het
Xylt2	T	A	11: 94,668,745	H357L	probably damaging	Het
Zbed4	T	C	15: 88,780,853	S375P	probably damaging	Het
Zfp442	A	T	2: 150,409,180	Y266*	probably null	Het
Zfp600	A	G	4: 146,196,927	T722A	probably benign	Het
Zfp976	T	A	7: 42,616,000	H55L	possibly damaging	Het

Other mutations in Thbs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Thbs1	APN	2	118122973	missense	probably damaging	1.00
IGL00920:Thbs1	APN	2	118113201	missense	probably damaging	0.99
IGL01295:Thbs1	APN	2	118118327	missense	possibly damaging	0.88
IGL01649:Thbs1	APN	2	118114982	missense	probably benign
IGL02077:Thbs1	APN	2	118113110	missense	probably benign	0.00
IGL02251:Thbs1	APN	2	118113518	missense	probably benign	0.00
IGL02263:Thbs1	APN	2	118119880	missense	probably benign	0.06
IGL02392:Thbs1	APN	2	118114660	missense	probably benign
IGL02393:Thbs1	APN	2	118123099	missense	possibly damaging	0.87
IGL02411:Thbs1	APN	2	118114970	missense	probably benign
IGL02659:Thbs1	APN	2	118114792	missense	probably benign	0.29
Stark	UTSW	2	118121237	critical splice donor site	probably null
R0014:Thbs1	UTSW	2	118113350	missense	possibly damaging	0.51
R0042:Thbs1	UTSW	2	118122877	missense	probably damaging	1.00
R0064:Thbs1	UTSW	2	118123914	critical splice acceptor site	probably null
R0240:Thbs1	UTSW	2	118114393	missense	probably damaging	1.00
R0240:Thbs1	UTSW	2	118114393	missense	probably damaging	1.00
R0316:Thbs1	UTSW	2	118117574	missense	probably damaging	1.00
R0393:Thbs1	UTSW	2	118112991	missense	possibly damaging	0.69
R0678:Thbs1	UTSW	2	118122906	missense	probably damaging	1.00
R1037:Thbs1	UTSW	2	118123051	missense	probably damaging	1.00
R1440:Thbs1	UTSW	2	118114355	missense	probably damaging	1.00
R1454:Thbs1	UTSW	2	118122672	missense	probably damaging	1.00
R1571:Thbs1	UTSW	2	118119197	missense	probably damaging	0.99
R2035:Thbs1	UTSW	2	118118340	critical splice donor site	probably null
R2068:Thbs1	UTSW	2	118123537	nonsense	probably null
R2171:Thbs1	UTSW	2	118122579	missense	probably damaging	1.00
R2844:Thbs1	UTSW	2	118117628	missense	probably benign	0.00
R2870:Thbs1	UTSW	2	118119378	missense	probably damaging	1.00
R2870:Thbs1	UTSW	2	118119378	missense	probably damaging	1.00
R3620:Thbs1	UTSW	2	118121159	missense	probably benign	0.05
R3621:Thbs1	UTSW	2	118121159	missense	probably benign	0.05
R3726:Thbs1	UTSW	2	118114710	missense	probably benign	0.02
R4499:Thbs1	UTSW	2	118119950	missense	possibly damaging	0.82
R4524:Thbs1	UTSW	2	118122979	missense	probably damaging	1.00
R4576:Thbs1	UTSW	2	118119416	missense	probably damaging	0.97
R4596:Thbs1	UTSW	2	118114755	missense	possibly damaging	0.80
R4646:Thbs1	UTSW	2	118118329	missense	probably benign	0.15
R4783:Thbs1	UTSW	2	118114792	missense	probably benign	0.04
R4836:Thbs1	UTSW	2	118115018	missense	possibly damaging	0.91
R4943:Thbs1	UTSW	2	118113449	missense	probably damaging	1.00
R4967:Thbs1	UTSW	2	118114778	missense	probably benign
R5014:Thbs1	UTSW	2	118120037	critical splice donor site	probably null
R5062:Thbs1	UTSW	2	118121237	critical splice donor site	probably null
R5363:Thbs1	UTSW	2	118122666	missense	probably damaging	1.00
R5420:Thbs1	UTSW	2	118113155	missense	possibly damaging	0.83
R5432:Thbs1	UTSW	2	118114683	missense	probably benign	0.25
R5788:Thbs1	UTSW	2	118122508	missense	probably damaging	1.00
R6221:Thbs1	UTSW	2	118119997	missense	probably damaging	1.00
R6327:Thbs1	UTSW	2	118112656	missense	unknown
R6466:Thbs1	UTSW	2	118119847	missense	probably damaging	1.00
R6480:Thbs1	UTSW	2	118119117	missense	probably damaging	1.00
R6794:Thbs1	UTSW	2	118120038	splice site	probably null
R6983:Thbs1	UTSW	2	118119952	missense	probably damaging	1.00
R7284:Thbs1	UTSW	2	118119356	missense	probably damaging	1.00
R7320:Thbs1	UTSW	2	118114957	missense	possibly damaging	0.80
R7467:Thbs1	UTSW	2	118118200	missense	probably damaging	1.00
R7542:Thbs1	UTSW	2	118121174	missense	probably damaging	1.00
R7552:Thbs1	UTSW	2	118113362	missense	possibly damaging	0.90
R7575:Thbs1	UTSW	2	118122928	missense	probably damaging	1.00
R7870:Thbs1	UTSW	2	118115027	missense	possibly damaging	0.46
R7943:Thbs1	UTSW	2	118119617	splice site	probably null
R8267:Thbs1	UTSW	2	118122513	missense	probably damaging	1.00
R8402:Thbs1	UTSW	2	118115878	missense	possibly damaging	0.88
RF039:Thbs1	UTSW	2	118122865	critical splice acceptor site	probably benign
RF054:Thbs1	UTSW	2	118122865	critical splice acceptor site	probably benign
X0019:Thbs1	UTSW	2	118112982	missense	probably damaging	1.00
Z1176:Thbs1	UTSW	2	118113479	missense	probably benign	0.34
Z1176:Thbs1	UTSW	2	118120977	missense	probably benign	0.25
Z1176:Thbs1	UTSW	2	118122922	missense	probably damaging	1.00
Z1177:Thbs1	UTSW	2	118117658	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGTGGTCTCCAACGGCAAAG -3'
(R):5'- CACAGGGAGTACCCCATTCTGAAAC -3'

Sequencing Primer
(F):5'- AAAGCTGGCACCCTGGAC -3'
(R):5'- cctggcaccattacaacttatttc -3'

Posted On

2014-05-14