Mutagenetix > Incidental Mutation

Incidental Mutation 'R4499:Thbs1'

331732

Institutional Source

Beutler Lab

Gene Symbol

Thbs1

Ensembl Gene

ENSMUSG00000040152

Gene Name

thrombospondin 1

Synonyms

TSP-1, TSP1, tbsp1, Thbs-1

MMRRC Submission

041752-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117942357-117957614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117950431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 688 (I688T)

Ref Sequence

ENSEMBL: ENSMUSP00000044903 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039559
AA Change: I688T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000044903
Gene: ENSMUSG00000040152
AA Change: I688T

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

0.1354

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

92% (47/51)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,464,646 (GRCm39)	W948R	possibly damaging	Het
Ache	A	C	5: 137,290,194 (GRCm39)	M508L	probably damaging	Het
Adgrb2	A	T	4: 129,886,454 (GRCm39)	E198V	probably damaging	Het
Adgrl4	A	G	3: 151,216,422 (GRCm39)	N535S	possibly damaging	Het
Agbl3	T	C	6: 34,834,533 (GRCm39)	S906P	probably benign	Het
Akna	T	C	4: 63,313,278 (GRCm39)	T282A	probably benign	Het
Arfgef2	G	A	2: 166,727,734 (GRCm39)	V1561M	probably damaging	Het
Arfgef3	T	C	10: 18,484,091 (GRCm39)	D1388G	possibly damaging	Het
Asnsd1	A	G	1: 53,387,129 (GRCm39)	V166A	probably benign	Het
Bank1	T	C	3: 135,990,004 (GRCm39)	I29V	probably benign	Het
Bpifb5	A	T	2: 154,082,678 (GRCm39)	I484F	possibly damaging	Het
Camta2	T	C	11: 70,565,512 (GRCm39)	E788G	probably damaging	Het
Ccdc18	T	G	5: 108,376,826 (GRCm39)	S1422R	possibly damaging	Het
Cdc42bpg	C	T	19: 6,370,585 (GRCm39)	P1226L	possibly damaging	Het
Cep126	T	C	9: 8,101,589 (GRCm39)	N315S	possibly damaging	Het
Dcaf4	T	A	12: 83,586,134 (GRCm39)	L367Q	probably damaging	Het
Dcc	A	T	18: 71,680,388 (GRCm39)	V616D	probably benign	Het
Dennd4a	G	A	9: 64,817,405 (GRCm39)	D1680N	possibly damaging	Het
Dgkq	C	G	5: 108,797,527 (GRCm39)	E788D	possibly damaging	Het
Dpep2	T	C	8: 106,712,114 (GRCm39)	E282G	probably benign	Het
Gm8221	T	A	15: 77,510,245 (GRCm39)		noncoding transcript	Het
Ice1	T	C	13: 70,757,146 (GRCm39)	S280G	possibly damaging	Het
Lrrc2	A	T	9: 110,791,713 (GRCm39)	Q155L	probably benign	Het
Mesd	G	A	7: 83,547,185 (GRCm39)	R216Q	probably benign	Het
Msh6	T	A	17: 88,287,697 (GRCm39)	N112K	probably damaging	Het
Myo15b	A	G	11: 115,781,778 (GRCm39)	E307G	probably benign	Het
Nod1	T	A	6: 54,920,981 (GRCm39)	N446Y	probably damaging	Het
Nrap	G	A	19: 56,339,913 (GRCm39)	T787I	probably damaging	Het
P2ry12	A	G	3: 59,125,078 (GRCm39)	I199T	probably damaging	Het
Prr11	T	G	11: 86,989,533 (GRCm39)	K279N	possibly damaging	Het
Psg25	C	T	7: 18,258,816 (GRCm39)	E287K	possibly damaging	Het
Rusc1	T	C	3: 88,999,615 (GRCm39)	S56G	probably benign	Het
Slc16a7	T	C	10: 125,064,056 (GRCm39)	N427S	probably damaging	Het
Slc47a1	T	A	11: 61,250,355 (GRCm39)	I341L	probably benign	Het
Slc9a8	T	A	2: 167,266,113 (GRCm39)	L30Q	probably benign	Het
Ssh2	T	A	11: 77,283,893 (GRCm39)	L49*	probably null	Het
Stard9	T	A	2: 120,530,722 (GRCm39)	D2326E	probably benign	Het
Ttn	T	A	2: 76,746,822 (GRCm39)	E4742D	probably benign	Het
Vps37b	T	C	5: 124,145,689 (GRCm39)	I117V	probably damaging	Het
Xirp2	A	T	2: 67,343,782 (GRCm39)	M2008L	probably benign	Het
Zfp1005	T	G	2: 150,111,362 (GRCm39)	V684G	possibly damaging	Het
Zfp53	A	G	17: 21,729,497 (GRCm39)	E510G	probably damaging	Het
Zswim8	T	A	14: 20,764,365 (GRCm39)	S578R	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GAATCTGGACCTTTGGTGGC -3'
(R):5'- GCTAGGATGCTCAGGTGTAGAC -3'

Sequencing Primer
(F):5'- GGCTTGGGACTTTTAGACATTC -3'
(R):5'- CATGATTTTAATGGGAAGGTGAAGCC -3'

Posted On

2015-07-21