Mutagenetix > Incidental Mutation

Incidental Mutation 'R6794:Thbs1'

531654

Institutional Source

Beutler Lab

Gene Symbol

Thbs1

Ensembl Gene

ENSMUSG00000040152

Gene Name

thrombospondin 1

Synonyms

TSP-1, TSP1, tbsp1, Thbs-1

MMRRC Submission

044907-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117942357-117957614 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 117950519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044903 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000039559

SMART Domains

Protein: ENSMUSP00000044903
Gene: ENSMUSG00000040152

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

100% (37/37)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agxt	T	C	1: 93,063,104 (GRCm39)	V30A	possibly damaging	Het
Atf7	T	C	15: 102,465,900 (GRCm39)	K87E	probably benign	Het
Bltp3b	T	C	10: 89,641,624 (GRCm39)	S932P	probably benign	Het
Btg4	A	C	9: 51,030,651 (GRCm39)	K250N	possibly damaging	Het
Cracdl	A	G	1: 37,676,936 (GRCm39)		probably null	Het
Cyc1	A	G	15: 76,228,850 (GRCm39)	Y132C	probably damaging	Het
Dcaf5	A	T	12: 80,445,667 (GRCm39)	D137E	possibly damaging	Het
Ddr2	C	A	1: 169,809,667 (GRCm39)	W770L	probably damaging	Het
Disc1	T	C	8: 125,814,514 (GRCm39)	V126A	probably benign	Het
Dock8	A	G	19: 25,099,805 (GRCm39)	N643D	probably benign	Het
Gabrg1	C	T	5: 70,973,314 (GRCm39)	R75H	probably damaging	Het
Gm14418	A	T	2: 177,079,631 (GRCm39)	H121Q	probably damaging	Het
H2-Ob	T	A	17: 34,460,162 (GRCm39)	L20Q	possibly damaging	Het
Herpud1	T	A	8: 95,121,398 (GRCm39)		probably null	Het
Ica1	T	C	6: 8,653,659 (GRCm39)	D326G	probably benign	Het
Jph3	T	C	8: 122,512,124 (GRCm39)	L704P	probably benign	Het
Kmt2e	TGCCGCCGCCGCCGCCACCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC	5: 23,704,474 (GRCm39)		probably benign	Het
Lnpep	T	G	17: 17,751,421 (GRCm39)	N948T	probably damaging	Het
Mdn1	T	A	4: 32,741,893 (GRCm39)	V3888D	probably damaging	Het
Muc5ac	T	C	7: 141,363,289 (GRCm39)		probably benign	Het
Nfkb2	T	C	19: 46,296,159 (GRCm39)		probably null	Het
Pik3r2	T	C	8: 71,223,361 (GRCm39)	H380R	probably benign	Het
Prim1	T	C	10: 127,854,018 (GRCm39)	S124P	probably damaging	Het
Prokr1	T	C	6: 87,565,675 (GRCm39)	T57A	possibly damaging	Het
Ptpn4	T	C	1: 119,671,120 (GRCm39)	T213A	probably damaging	Het
Sapcd2	A	G	2: 25,266,379 (GRCm39)	S389G	probably damaging	Het
Scn5a	T	C	9: 119,364,955 (GRCm39)	Q421R	probably damaging	Het
Serac1	A	G	17: 6,101,985 (GRCm39)	Y430H	probably damaging	Het
Shf	A	G	2: 122,184,321 (GRCm39)	L234P	probably damaging	Het
Slc22a29	G	T	19: 8,138,887 (GRCm39)	S525Y	probably benign	Het
Tln2	T	C	9: 67,193,840 (GRCm39)	D666G	probably benign	Het
Ubqlnl	C	T	7: 103,797,992 (GRCm39)	E502K	probably benign	Het
Vmn2r118	T	A	17: 55,899,348 (GRCm39)	H852L	possibly damaging	Het
Vmn2r72	A	G	7: 85,387,204 (GRCm39)	F787L	probably damaging	Het
Xpc	G	A	6: 91,483,839 (GRCm39)	A169V	probably benign	Het
Ylpm1	A	G	12: 85,043,655 (GRCm39)	H131R	unknown	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCGGGATACTGTACCCTCAG -3'
(R):5'- AGGCGACACAGTTAGCATTC -3'

Sequencing Primer
(F):5'- TCAGGTGTGCAAACCGC -3'
(R):5'- CGCTTGTTTGGCGCACAC -3'

Posted On

2018-08-29