Mutagenetix > Incidental Mutation

Incidental Mutation 'R5062:Thbs1'

386665

Institutional Source

Beutler Lab

Gene Symbol

Thbs1

Ensembl Gene

ENSMUSG00000040152

Gene Name

thrombospondin 1

Synonyms

TSP-1, TSP1, tbsp1, Thbs-1

MMRRC Submission

042652-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118111876-118127133 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 118121237 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044903 (fasta)

Gene Model

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

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

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190311

Meta Mutation Damage Score

0.9580

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

100% (79/79)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,177,066	I1593N	probably benign	Het
Akr1b10	G	T	6: 34,392,106	K173N	probably damaging	Het
Artn	A	T	4: 117,927,676	L3Q	probably damaging	Het
Asxl3	T	A	18: 22,522,718	S1262T	possibly damaging	Het
Atp6v0a4	A	T	6: 38,074,183	M420K	probably benign	Het
Bcam	T	A	7: 19,760,101	T422S	possibly damaging	Het
Casp2	C	T	6: 42,269,272		probably benign	Het
Ccdc137	A	G	11: 120,462,515		probably benign	Het
Cd177	C	A	7: 24,744,316	A786S	probably benign	Het
Cdca4	T	C	12: 112,821,863	N82D	probably benign	Het
Clu	A	C	14: 65,979,728	T337P	probably damaging	Het
Col6a3	A	C	1: 90,779,352	I2013S	unknown	Het
Cpne9	T	A	6: 113,304,488	M510K	probably damaging	Het
Cyp3a13	A	C	5: 137,898,899	N384K	possibly damaging	Het
Fam186a	A	C	15: 99,944,646	I1239S	possibly damaging	Het
Fryl	T	C	5: 73,075,893	E413G	possibly damaging	Het
Fscn2	A	C	11: 120,366,749	Y312S	probably damaging	Het
Fshr	A	T	17: 88,986,046	C401*	probably null	Het
Glyat	A	C	19: 12,650,263	Q74P	probably damaging	Het
Gm5724	A	C	6: 141,767,454	M67R	possibly damaging	Het
Gm6158	A	T	14: 24,070,090		noncoding transcript	Het
Grm7	A	G	6: 110,646,136	N90S	probably damaging	Het
Hectd1	A	T	12: 51,744,879	C2536S	probably damaging	Het
Herc3	C	T	6: 58,855,760	Q137*	probably null	Het
Kctd3	A	C	1: 188,995,693		probably benign	Het
Klhl30	A	G	1: 91,355,578	T301A	probably benign	Het
Klra9	T	C	6: 130,179,109	K228E	possibly damaging	Het
Lamc3	A	T	2: 31,905,667	T355S	possibly damaging	Het
Lcmt1	A	C	7: 123,410,830		probably null	Het
Limch1	C	T	5: 66,969,235	P60S	probably damaging	Het
Lrfn2	A	G	17: 49,070,500	D203G	probably damaging	Het
Mc5r	T	C	18: 68,339,281	L237P	probably damaging	Het
Mknk2	G	A	10: 80,671,769	R58W	probably damaging	Het
Mrgpra2b	T	C	7: 47,502,928		probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Nae1	A	T	8: 104,516,702	C395S	possibly damaging	Het
Ncoa1	A	G	12: 4,259,333	M1321T	probably damaging	Het
Neb	A	C	2: 52,280,501	F1720V	possibly damaging	Het
Nectin2	C	T	7: 19,738,273	V64I	probably benign	Het
Nisch	T	A	14: 31,172,440	T1145S	probably damaging	Het
Nlrp5	A	T	7: 23,435,910	R1009*	probably null	Het
Olfr103	A	T	17: 37,336,931	H100Q	probably damaging	Het
Olfr727	T	A	14: 50,127,437	Y287N	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pak1ip1	A	G	13: 41,008,145		probably benign	Het
Pcm1	T	C	8: 41,259,260	V189A	probably damaging	Het
Peak1	G	T	9: 56,260,289	N118K	probably damaging	Het
Phgdh	T	A	3: 98,328,339	I121F	probably damaging	Het
Pi4ka	G	T	16: 17,309,397	A1064E	probably benign	Het
Pkhd1	A	C	1: 20,585,711	C199W	probably benign	Het
Plat	A	G	8: 22,772,311	D117G	probably benign	Het
Ppp2r2b	C	A	18: 42,688,461	V211L	possibly damaging	Het
Ptgs1	A	G	2: 36,237,282	D60G	probably damaging	Het
Ryr2	T	C	13: 11,700,354	E2776G	probably damaging	Het
Sema4c	C	T	1: 36,552,978		probably null	Het
Sharpin	T	C	15: 76,347,611		probably benign	Het
Slamf6	A	G	1: 171,936,533	I164M	possibly damaging	Het
Spef1	A	G	2: 131,173,281	Y46H	probably damaging	Het
Spns1	G	A	7: 126,374,329		probably benign	Het
Supt5	C	T	7: 28,329,015		probably null	Het
Tbx5	T	A	5: 119,836,922	D3E	probably damaging	Het
Tmem140	G	A	6: 34,872,962	V138M	probably damaging	Het
Tmem200a	T	A	10: 25,993,915	D152V	probably damaging	Het
Tmem200b	A	G	4: 131,922,537	D256G	probably damaging	Het
Tns1	A	T	1: 73,952,864	L885Q	probably damaging	Het
Umod	G	A	7: 119,472,421	Q366*	probably null	Het
Vsir	A	G	10: 60,364,263	I208V	probably damaging	Het
Zfp646	G	A	7: 127,880,499	R616H	probably 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
R1702:Thbs1	UTSW	2	118113442	missense	probably benign
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
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
R8672:Thbs1	UTSW	2	118113238	missense	probably benign
R8726:Thbs1	UTSW	2	118119476	critical splice donor site	probably null
R8784:Thbs1	UTSW	2	118113132	missense	probably damaging	0.99
R9010:Thbs1	UTSW	2	118122564	missense	probably damaging	1.00
R9353:Thbs1	UTSW	2	118122570	missense	probably damaging	1.00
R9416:Thbs1	UTSW	2	118117502	missense	probably benign	0.11
R9474:Thbs1	UTSW	2	118120037	critical splice donor site	probably null
R9544:Thbs1	UTSW	2	118123451	missense	probably damaging	1.00
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'- CTGAGTGGCTATTAACGTGTGAC -3'
(R):5'- CAAAACTGAGGTCCCAAGATTTCC -3'

Sequencing Primer
(F):5'- TGTGACTGAGTTAAAATATATGGGGC -3'
(R):5'- CCATAATAGTCTCTGAGAGTGTTTGC -3'

Posted On

2016-06-06