Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02411:Thbs1'

292302

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 #

IGL02411

Quality Score

Status

Chromosome

Chromosomal Location

117942357-117957614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117945451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 310 (V310A)

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: V310A

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

SMART Domains

Protein: ENSMUSP00000044903
Gene: ENSMUSG00000040152
AA Change: V310A

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,055,459 (GRCm39)	E65G	probably benign	Het
Abcc8	G	A	7: 45,756,431 (GRCm39)	R1425C	probably damaging	Het
Adcy3	A	T	12: 4,259,407 (GRCm39)		probably null	Het
AI661453	T	G	17: 47,778,263 (GRCm39)		probably benign	Het
Arhgef10	A	T	8: 15,004,819 (GRCm39)	Y445F	probably benign	Het
Atrx	G	T	X: 104,874,587 (GRCm39)	S1924R	possibly damaging	Het
Clca3a1	T	C	3: 144,733,763 (GRCm39)	T58A	possibly damaging	Het
Clec1b	A	G	6: 129,378,804 (GRCm39)	Y97C	probably damaging	Het
Cobll1	A	G	2: 64,928,084 (GRCm39)	S1080P	probably damaging	Het
Crb1	C	A	1: 139,176,213 (GRCm39)	C529F	probably damaging	Het
Crim1	C	T	17: 78,642,763 (GRCm39)	R494*	probably null	Het
Cyp3a25	A	T	5: 145,938,257 (GRCm39)		probably benign	Het
Dntt	T	A	19: 41,041,424 (GRCm39)		probably null	Het
Gjb1	T	C	X: 100,428,611 (GRCm39)	C280R	probably damaging	Het
Glp1r	T	A	17: 31,143,485 (GRCm39)	C174S	probably damaging	Het
Gm5414	A	T	15: 101,536,269 (GRCm39)	Y119N	probably benign	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Gm9796	G	T	11: 95,588,756 (GRCm39)		noncoding transcript	Het
Gm9956	T	C	10: 56,621,388 (GRCm39)	F17L	unknown	Het
Il1rap	A	T	16: 26,529,366 (GRCm39)	D396V	probably damaging	Het
Impa1	T	C	3: 10,388,018 (GRCm39)	K135E	possibly damaging	Het
Iqub	G	A	6: 24,449,810 (GRCm39)	A685V	probably damaging	Het
Jade3	T	C	X: 20,379,063 (GRCm39)	V512A	probably benign	Het
Kif3a	C	A	11: 53,461,525 (GRCm39)	P57T	probably damaging	Het
Kndc1	G	T	7: 139,501,829 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Maged2	G	T	X: 149,592,755 (GRCm39)	D343E	probably benign	Het
Magi2	T	C	5: 19,883,707 (GRCm39)	S120P	probably damaging	Het
Nxph3	A	T	11: 95,401,656 (GRCm39)	*253R	probably null	Het
Oog2	A	T	4: 143,921,618 (GRCm39)	H194L	probably damaging	Het
Pcbd2	T	G	13: 55,880,764 (GRCm39)	W7G	probably benign	Het
Pcdhb14	T	G	18: 37,582,823 (GRCm39)	L643R	possibly damaging	Het
Plch1	G	T	3: 63,605,177 (GRCm39)		probably null	Het
Poln	G	T	5: 34,270,666 (GRCm39)	S455*	probably null	Het
Ppp2r1a	T	C	17: 21,171,596 (GRCm39)		probably benign	Het
Rsu1	T	G	2: 13,082,308 (GRCm39)		probably benign	Het
Serpina10	A	T	12: 103,583,202 (GRCm39)	M360K	possibly damaging	Het
Sox30	A	T	11: 45,871,951 (GRCm39)	K269*	probably null	Het
Tie1	C	A	4: 118,343,760 (GRCm39)	E61*	probably null	Het
Tm2d1	G	T	4: 98,268,911 (GRCm39)	P62Q	probably damaging	Het
Tpp1	G	T	7: 105,398,826 (GRCm39)	P201Q	probably damaging	Het
Trim13	A	G	14: 61,842,598 (GRCm39)	E205G	probably 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
IGL02659:Thbs1	APN	2	117,945,273 (GRCm39)	missense	probably benign	0.29
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