Incidental Mutation 'R7870:Thbs1'
ID 608030
Institutional Source Beutler Lab
Gene Symbol Thbs1
Ensembl Gene ENSMUSG00000040152
Gene Name thrombospondin 1
Synonyms TSP-1, TSP1, tbsp1, Thbs-1
MMRRC Submission 045922-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7870 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 117942357-117957614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 117945508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 329 (N329I)
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: N329I

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044903
Gene: ENSMUSG00000040152
AA Change: N329I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,441,505 (GRCm39) F171L probably benign Het
2410137M14Rik A T 17: 37,288,909 (GRCm39) C152S unknown Het
Alb T C 5: 90,620,488 (GRCm39) F533L possibly damaging Het
Alox12b T C 11: 69,060,135 (GRCm39) M616T possibly damaging Het
Atxn2l A G 7: 126,091,924 (GRCm39) F968L probably benign Het
Cadps2 G T 6: 23,263,641 (GRCm39) H1227Q probably benign Het
Cdh18 A T 15: 23,474,413 (GRCm39) D761V possibly damaging Het
Cdkl3 T C 11: 51,909,284 (GRCm39) probably null Het
Chrdl2 T C 7: 99,659,249 (GRCm39) L9P unknown Het
Ctr9 A G 7: 110,651,618 (GRCm39) E946G unknown Het
Cygb T A 11: 116,540,116 (GRCm39) T178S probably benign Het
Cyp2c67 A C 19: 39,597,669 (GRCm39) M443R probably damaging Het
Dnah12 A G 14: 26,578,486 (GRCm39) T3082A probably benign Het
Flnc C T 6: 29,454,306 (GRCm39) T1906I probably damaging Het
Gm14496 A G 2: 181,637,906 (GRCm39) I327V probably benign Het
Gm29106 T A 1: 118,126,885 (GRCm39) N192K possibly damaging Het
H3f3a A T 1: 180,639,490 (GRCm39) M1K probably null Het
Htt T A 5: 35,055,891 (GRCm39) W2601R possibly damaging Het
Il18r1 T A 1: 40,530,296 (GRCm39) I341K probably benign Het
Kcnj1 G A 9: 32,307,881 (GRCm39) V102I probably benign Het
Lrp3 C A 7: 34,910,922 (GRCm39) G41V probably damaging Het
Lrrc9 G T 12: 72,532,964 (GRCm39) K944N probably damaging Het
Mettl21e T A 1: 44,249,371 (GRCm39) E95V probably damaging Het
Mib1 G A 18: 10,798,446 (GRCm39) R769Q possibly damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Mymk A G 2: 26,952,298 (GRCm39) S190P probably damaging Het
Neb G A 2: 52,215,761 (GRCm39) P182L probably damaging Het
Nfil3 A G 13: 53,122,449 (GRCm39) Y152H probably damaging Het
Nisch A G 14: 30,894,052 (GRCm39) Y1174H probably damaging Het
Nyap1 G C 5: 137,733,658 (GRCm39) Y458* probably null Het
Or4d5 A C 9: 40,011,973 (GRCm39) V271G possibly damaging Het
Or52z13 T A 7: 103,247,473 (GRCm39) C317S probably damaging Het
Or5h17 G A 16: 58,820,086 (GRCm39) V13I probably benign Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Patj G T 4: 98,312,553 (GRCm39) G297V probably damaging Het
Pcdh9 A T 14: 94,124,693 (GRCm39) S492R probably damaging Het
Pcyox1 G A 6: 86,369,323 (GRCm39) R168C probably damaging Het
Plbd1 A T 6: 136,594,326 (GRCm39) Y308N possibly damaging Het
Rax A G 18: 66,071,284 (GRCm39) V117A probably benign Het
Rdh9 C A 10: 127,612,566 (GRCm39) N71K probably benign Het
Sap130 A G 18: 31,853,714 (GRCm39) N968S probably benign Het
Sema5a A T 15: 32,609,485 (GRCm39) I464F probably benign Het
Sez6l T G 5: 112,586,447 (GRCm39) D683A probably damaging Het
Slit2 C A 5: 48,459,649 (GRCm39) P1310T probably damaging Het
Snap47 T C 11: 59,328,904 (GRCm39) M133V probably benign Het
Son TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC 16: 91,453,486 (GRCm39) probably benign Het
Srcap G A 7: 127,159,730 (GRCm39) S3202N unknown Het
Ssh2 T C 11: 77,344,441 (GRCm39) W809R probably benign Het
Stau1 G T 2: 166,792,870 (GRCm39) A365D possibly damaging Het
Tfpi2 A G 6: 3,968,281 (GRCm39) L15P probably damaging Het
Tmem65 A T 15: 58,659,010 (GRCm39) D184E probably damaging Het
Trpm6 G T 19: 18,792,605 (GRCm39) E676D probably benign Het
Vdr T G 15: 97,782,771 (GRCm39) D17A possibly damaging Het
Vmn1r123 C T 7: 20,896,192 (GRCm39) T28I probably damaging Het
Wdr90 A G 17: 26,079,513 (GRCm39) L207P probably damaging Het
Zfp354c TGTCACACTCG TG 11: 50,706,065 (GRCm39) probably benign Het
Zfp598 A G 17: 24,898,304 (GRCm39) E402G 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
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
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'- AAAGTGGTCAGTGGCTTCCC -3'
(R):5'- GCTCAGCCTGGGGTATTATTAAG -3'

Sequencing Primer
(F):5'- AGTGGCTTCCCCTCCCATTTG -3'
(R):5'- GCCTGGGGTATTATTAAGATAAACC -3'
Posted On 2019-12-20