Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02659:Thbs1'

302469

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thbs1

Ensembl Gene

ENSMUSG00000040152

Gene Name

thrombospondin 1

Synonyms

TSP-1, TSP1, tbsp1, Thbs-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02659

Quality Score

Status

Chromosome

Chromosomal Location

117942357-117957614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 117945273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 282 (V282G)

Ref Sequence

ENSEMBL: ENSMUSP00000044903 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000039559
AA Change: V282G

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044903
Gene: ENSMUSG00000040152
AA Change: V282G

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	T	14: 29,708,298 (GRCm39)	N192I	probably damaging	Het
Arhgap15	A	T	2: 43,953,849 (GRCm39)	I192F	probably damaging	Het
Atp10a	T	C	7: 58,463,379 (GRCm39)	F971L	probably benign	Het
Cacna1e	G	T	1: 154,302,274 (GRCm39)	F1660L	probably damaging	Het
Cep152	G	A	2: 125,421,469 (GRCm39)	T1087M	probably damaging	Het
Ces2b	T	C	8: 105,559,202 (GRCm39)		probably benign	Het
Col19a1	T	C	1: 24,573,115 (GRCm39)	D219G	unknown	Het
Desi2	G	A	1: 178,076,843 (GRCm39)	A116T	probably damaging	Het
Eri2	T	A	7: 119,386,665 (GRCm39)	Q202L	probably damaging	Het
Gtf2ird1	G	A	5: 134,405,895 (GRCm39)	P715L	probably damaging	Het
Higd1c	A	T	15: 100,281,622 (GRCm39)	M249L	probably benign	Het
Il5ra	T	A	6: 106,719,644 (GRCm39)	H63L	possibly damaging	Het
Lamb3	T	A	1: 193,014,469 (GRCm39)	C543S	probably damaging	Het
Lnpep	T	A	17: 17,791,162 (GRCm39)	I461F	possibly damaging	Het
Lum	A	G	10: 97,404,609 (GRCm39)	H168R	probably benign	Het
Magi1	T	C	6: 93,762,591 (GRCm39)	E77G	possibly damaging	Het
Mrpl13	T	C	15: 55,421,135 (GRCm39)		probably null	Het
Mtpap	T	A	18: 4,380,703 (GRCm39)	L127*	probably null	Het
Myo15a	T	C	11: 60,382,609 (GRCm39)		probably benign	Het
Nek1	A	G	8: 61,542,514 (GRCm39)	S726G	probably benign	Het
Nlrp5	C	A	7: 23,118,006 (GRCm39)	H577N	probably damaging	Het
Nynrin	G	A	14: 56,103,554 (GRCm39)		probably benign	Het
Or14c40	A	G	7: 86,313,289 (GRCm39)	M140V	probably benign	Het
Or2h15	C	T	17: 38,441,427 (GRCm39)	G219S	possibly damaging	Het
Pappa2	A	T	1: 158,764,364 (GRCm39)	D382E	probably damaging	Het
Plekhg1	T	A	10: 3,907,069 (GRCm39)	L516*	probably null	Het
Prune1	A	G	3: 95,162,711 (GRCm39)	S321P	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Syncrip	G	T	9: 88,338,457 (GRCm39)	R536S	probably benign	Het
Unc13b	C	T	4: 43,235,332 (GRCm39)	R880C	probably damaging	Het
Vmn2r77	T	G	7: 86,449,979 (GRCm39)	I75S	probably benign	Het
Vps13a	A	T	19: 16,630,063 (GRCm39)	I2690K	probably damaging	Het
Zfp286	T	C	11: 62,674,563 (GRCm39)	N94S	possibly damaging	Het

Other mutations in Thbs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Thbs1	APN	2	117,953,454 (GRCm39)	missense	probably damaging	1.00
IGL00920:Thbs1	APN	2	117,943,682 (GRCm39)	missense	probably damaging	0.99
IGL01295:Thbs1	APN	2	117,948,808 (GRCm39)	missense	possibly damaging	0.88
IGL01649:Thbs1	APN	2	117,945,463 (GRCm39)	missense	probably benign
IGL02077:Thbs1	APN	2	117,943,591 (GRCm39)	missense	probably benign	0.00
IGL02251:Thbs1	APN	2	117,943,999 (GRCm39)	missense	probably benign	0.00
IGL02263:Thbs1	APN	2	117,950,361 (GRCm39)	missense	probably benign	0.06
IGL02392:Thbs1	APN	2	117,945,141 (GRCm39)	missense	probably benign
IGL02393:Thbs1	APN	2	117,953,580 (GRCm39)	missense	possibly damaging	0.87
IGL02411:Thbs1	APN	2	117,945,451 (GRCm39)	missense	probably benign
Stark	UTSW	2	117,951,718 (GRCm39)	critical splice donor site	probably null
R0014:Thbs1	UTSW	2	117,943,831 (GRCm39)	missense	possibly damaging	0.51
R0042:Thbs1	UTSW	2	117,953,358 (GRCm39)	missense	probably damaging	1.00
R0064:Thbs1	UTSW	2	117,954,395 (GRCm39)	critical splice acceptor site	probably null
R0240:Thbs1	UTSW	2	117,944,874 (GRCm39)	missense	probably damaging	1.00
R0240:Thbs1	UTSW	2	117,944,874 (GRCm39)	missense	probably damaging	1.00
R0316:Thbs1	UTSW	2	117,948,055 (GRCm39)	missense	probably damaging	1.00
R0393:Thbs1	UTSW	2	117,943,472 (GRCm39)	missense	possibly damaging	0.69
R0678:Thbs1	UTSW	2	117,953,387 (GRCm39)	missense	probably damaging	1.00
R1037:Thbs1	UTSW	2	117,953,532 (GRCm39)	missense	probably damaging	1.00
R1440:Thbs1	UTSW	2	117,944,836 (GRCm39)	missense	probably damaging	1.00
R1454:Thbs1	UTSW	2	117,953,153 (GRCm39)	missense	probably damaging	1.00
R1571:Thbs1	UTSW	2	117,949,678 (GRCm39)	missense	probably damaging	0.99
R1702:Thbs1	UTSW	2	117,943,923 (GRCm39)	missense	probably benign
R2035:Thbs1	UTSW	2	117,948,821 (GRCm39)	critical splice donor site	probably null
R2068:Thbs1	UTSW	2	117,954,018 (GRCm39)	nonsense	probably null
R2171:Thbs1	UTSW	2	117,953,060 (GRCm39)	missense	probably damaging	1.00
R2844:Thbs1	UTSW	2	117,948,109 (GRCm39)	missense	probably benign	0.00
R2870:Thbs1	UTSW	2	117,949,859 (GRCm39)	missense	probably damaging	1.00
R2870:Thbs1	UTSW	2	117,949,859 (GRCm39)	missense	probably damaging	1.00
R3620:Thbs1	UTSW	2	117,951,640 (GRCm39)	missense	probably benign	0.05
R3621:Thbs1	UTSW	2	117,951,640 (GRCm39)	missense	probably benign	0.05
R3726:Thbs1	UTSW	2	117,945,191 (GRCm39)	missense	probably benign	0.02
R4499:Thbs1	UTSW	2	117,950,431 (GRCm39)	missense	possibly damaging	0.82
R4524:Thbs1	UTSW	2	117,953,460 (GRCm39)	missense	probably damaging	1.00
R4576:Thbs1	UTSW	2	117,949,897 (GRCm39)	missense	probably damaging	0.97
R4596:Thbs1	UTSW	2	117,945,236 (GRCm39)	missense	possibly damaging	0.80
R4646:Thbs1	UTSW	2	117,948,810 (GRCm39)	missense	probably benign	0.15
R4783:Thbs1	UTSW	2	117,945,273 (GRCm39)	missense	probably benign	0.04
R4836:Thbs1	UTSW	2	117,945,499 (GRCm39)	missense	possibly damaging	0.91
R4943:Thbs1	UTSW	2	117,943,930 (GRCm39)	missense	probably damaging	1.00
R4967:Thbs1	UTSW	2	117,945,259 (GRCm39)	missense	probably benign
R5014:Thbs1	UTSW	2	117,950,518 (GRCm39)	critical splice donor site	probably null
R5062:Thbs1	UTSW	2	117,951,718 (GRCm39)	critical splice donor site	probably null
R5363:Thbs1	UTSW	2	117,953,147 (GRCm39)	missense	probably damaging	1.00
R5420:Thbs1	UTSW	2	117,943,636 (GRCm39)	missense	possibly damaging	0.83
R5432:Thbs1	UTSW	2	117,945,164 (GRCm39)	missense	probably benign	0.25
R5788:Thbs1	UTSW	2	117,952,989 (GRCm39)	missense	probably damaging	1.00
R6221:Thbs1	UTSW	2	117,950,478 (GRCm39)	missense	probably damaging	1.00
R6327:Thbs1	UTSW	2	117,943,137 (GRCm39)	missense	unknown
R6466:Thbs1	UTSW	2	117,950,328 (GRCm39)	missense	probably damaging	1.00
R6480:Thbs1	UTSW	2	117,949,598 (GRCm39)	missense	probably damaging	1.00
R6794:Thbs1	UTSW	2	117,950,519 (GRCm39)	splice site	probably null
R6983:Thbs1	UTSW	2	117,950,433 (GRCm39)	missense	probably damaging	1.00
R7284:Thbs1	UTSW	2	117,949,837 (GRCm39)	missense	probably damaging	1.00
R7320:Thbs1	UTSW	2	117,945,438 (GRCm39)	missense	possibly damaging	0.80
R7467:Thbs1	UTSW	2	117,948,681 (GRCm39)	missense	probably damaging	1.00
R7542:Thbs1	UTSW	2	117,951,655 (GRCm39)	missense	probably damaging	1.00
R7552:Thbs1	UTSW	2	117,943,843 (GRCm39)	missense	possibly damaging	0.90
R7575:Thbs1	UTSW	2	117,953,409 (GRCm39)	missense	probably damaging	1.00
R7870:Thbs1	UTSW	2	117,945,508 (GRCm39)	missense	possibly damaging	0.46
R7943:Thbs1	UTSW	2	117,950,098 (GRCm39)	splice site	probably null
R8267:Thbs1	UTSW	2	117,952,994 (GRCm39)	missense	probably damaging	1.00
R8402:Thbs1	UTSW	2	117,946,359 (GRCm39)	missense	possibly damaging	0.88
R8672:Thbs1	UTSW	2	117,943,719 (GRCm39)	missense	probably benign
R8726:Thbs1	UTSW	2	117,949,957 (GRCm39)	critical splice donor site	probably null
R8784:Thbs1	UTSW	2	117,943,613 (GRCm39)	missense	probably damaging	0.99
R9010:Thbs1	UTSW	2	117,953,045 (GRCm39)	missense	probably damaging	1.00
R9353:Thbs1	UTSW	2	117,953,051 (GRCm39)	missense	probably damaging	1.00
R9416:Thbs1	UTSW	2	117,947,983 (GRCm39)	missense	probably benign	0.11
R9474:Thbs1	UTSW	2	117,950,518 (GRCm39)	critical splice donor site	probably null
R9544:Thbs1	UTSW	2	117,953,932 (GRCm39)	missense	probably damaging	1.00
R9663:Thbs1	UTSW	2	117,949,897 (GRCm39)	missense	probably damaging	0.97
R9701:Thbs1	UTSW	2	117,950,716 (GRCm39)	missense	probably benign	0.05
RF039:Thbs1	UTSW	2	117,953,346 (GRCm39)	critical splice acceptor site	probably benign
RF054:Thbs1	UTSW	2	117,953,346 (GRCm39)	critical splice acceptor site	probably benign
X0019:Thbs1	UTSW	2	117,943,463 (GRCm39)	missense	probably damaging	1.00
Z1176:Thbs1	UTSW	2	117,953,403 (GRCm39)	missense	probably damaging	1.00
Z1176:Thbs1	UTSW	2	117,951,458 (GRCm39)	missense	probably benign	0.25
Z1176:Thbs1	UTSW	2	117,943,960 (GRCm39)	missense	probably benign	0.34
Z1177:Thbs1	UTSW	2	117,948,139 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16