Incidental Mutation 'R1454:Thbs1'
ID 162186
Institutional Source Beutler Lab
Gene Symbol Thbs1
Ensembl Gene ENSMUSG00000040152
Gene Name thrombospondin 1
Synonyms TSP-1, TSP1, tbsp1, Thbs-1
MMRRC Submission 039509-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1454 (G1)
Quality Score 149
Status Validated
Chromosome 2
Chromosomal Location 117942357-117957614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117953153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 921 (D921G)
Ref Sequence ENSEMBL: ENSMUSP00000044903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039559]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000039559
AA Change: D921G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044903
Gene: ENSMUSG00000040152
AA Change: D921G

DomainStartEndE-ValueType
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 0.7077 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.2%
Validation Efficiency 97% (58/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A G 16: 85,666,881 (GRCm39) V537A possibly damaging Het
Adcy10 A T 1: 165,342,949 (GRCm39) I272F possibly damaging Het
Adcy6 A G 15: 98,502,609 (GRCm39) S2P probably damaging Het
Agap1 A G 1: 89,765,528 (GRCm39) probably null Het
Aldh3a2 A G 11: 61,155,928 (GRCm39) V116A probably benign Het
Ankdd1b A T 13: 96,569,913 (GRCm39) probably null Het
Antxrl G A 14: 33,782,906 (GRCm39) V233I probably damaging Het
Atp8b5 A G 4: 43,302,590 (GRCm39) I38V probably benign Het
Atxn7l2 A G 3: 108,115,748 (GRCm39) probably benign Het
Bfsp2 A T 9: 103,357,424 (GRCm39) M1K probably null Het
Camsap3 T A 8: 3,653,968 (GRCm39) I520N possibly damaging Het
Cenpc1 C T 5: 86,161,369 (GRCm39) V854I possibly damaging Het
Csnk2a1 T C 2: 152,099,347 (GRCm39) L88S probably damaging Het
Dcaf17 A G 2: 70,903,517 (GRCm39) N171D probably damaging Het
Dctn1 G C 6: 83,174,490 (GRCm39) A1077P possibly damaging Het
Dock1 T C 7: 134,453,338 (GRCm39) probably benign Het
Egfr A T 11: 16,839,920 (GRCm39) I645L probably benign Het
Gdpd1 T G 11: 86,950,335 (GRCm39) K79N possibly damaging Het
Ggt5 A T 10: 75,445,742 (GRCm39) L432F probably benign Het
Gm11060 A G 2: 104,924,097 (GRCm39) T22A unknown Het
Gpr132 G A 12: 112,815,860 (GRCm39) T322I possibly damaging Het
Grin1 G A 2: 25,182,442 (GRCm39) R940* probably null Het
Hip1 T C 5: 135,467,486 (GRCm39) T316A probably benign Het
Hnrnpm A G 17: 33,885,462 (GRCm39) probably benign Het
Hsd3b5 G A 3: 98,526,846 (GRCm39) T200I probably benign Het
Hspa9 A T 18: 35,071,659 (GRCm39) L647H probably damaging Het
Itgad T C 7: 127,791,309 (GRCm39) I727T probably benign Het
Kcnma1 T C 14: 23,513,268 (GRCm39) D522G probably damaging Het
Lipf C T 19: 33,948,132 (GRCm39) probably benign Het
Ly6i T C 15: 74,854,904 (GRCm39) D2G possibly damaging Het
Mast1 G A 8: 85,647,264 (GRCm39) P631L probably damaging Het
Mmp1b G C 9: 7,386,693 (GRCm39) L144V probably damaging Het
Msh6 A G 17: 88,292,186 (GRCm39) S314G probably benign Het
Myo5c G A 9: 75,170,348 (GRCm39) V493I possibly damaging Het
Nefm A G 14: 68,358,828 (GRCm39) L402P probably damaging Het
Nrxn2 T C 19: 6,531,476 (GRCm39) F697S probably damaging Het
Or13c7b A T 4: 43,820,639 (GRCm39) C241S probably damaging Het
Pex13 A G 11: 23,599,422 (GRCm39) I363T probably benign Het
Plcb3 T C 19: 6,932,414 (GRCm39) R1082G possibly damaging Het
Psg28 A T 7: 18,161,889 (GRCm39) S205T possibly damaging Het
Pxt1 C A 17: 29,153,756 (GRCm39) V26L possibly damaging Het
Ripk2 G A 4: 16,163,239 (GRCm39) T53M probably damaging Het
Slc5a9 A G 4: 111,741,161 (GRCm39) V495A probably benign Het
Snrpa T C 7: 26,892,362 (GRCm39) K66R probably benign Het
Srgap1 T A 10: 121,732,643 (GRCm39) E145V probably damaging Het
Suz12 A G 11: 79,922,939 (GRCm39) T694A probably benign Het
Tatdn2 T A 6: 113,681,288 (GRCm39) D440E probably benign Het
Tbc1d21 A G 9: 58,270,096 (GRCm39) probably null Het
Tbc1d31 T A 15: 57,815,034 (GRCm39) Y570* probably null Het
Tbc1d32 A T 10: 56,053,575 (GRCm39) probably benign Het
Tdrd5 G C 1: 156,087,406 (GRCm39) Q839E probably benign Het
Tecpr2 A G 12: 110,935,387 (GRCm39) N1402S probably benign Het
Tll1 A G 8: 64,491,524 (GRCm39) V803A probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm4 T C 7: 44,966,480 (GRCm39) E461G probably damaging Het
Zp3 T A 5: 136,013,042 (GRCm39) I152N probably damaging Het
Other mutations in Thbs1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGGGGACACTTGTGACAACAATCAG -3'
(R):5'- CTCGGCCATCACCTAAGGTCAAAG -3'

Sequencing Primer
(F):5'- TTGTGACAACAATCAGGACATCG -3'
(R):5'- TCACCTAAGGTCAAAGGTCAAAG -3'
Posted On 2014-03-14