Incidental Mutation 'R7320:Thbs1'
ID 568116
Institutional Source Beutler Lab
Gene Symbol Thbs1
Ensembl Gene ENSMUSG00000040152
Gene Name thrombospondin 1
Synonyms TSP-1, TSP1, tbsp1, Thbs-1
MMRRC Submission 045370-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7320 (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 G at 117945438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 306 (N306D)
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: N306D

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044903
Gene: ENSMUSG00000040152
AA Change: N306D

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: 99.6%
  • 20x: 98.8%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,258,471 (GRCm39) I458T probably benign Het
Adam29 A G 8: 56,325,749 (GRCm39) I235T possibly damaging Het
Afap1 G A 5: 36,105,567 (GRCm39) V174I probably damaging Het
Ak8 A T 2: 28,703,004 (GRCm39) D456V probably damaging Het
Alb T C 5: 90,612,846 (GRCm39) probably null Het
Alox12 C T 11: 70,145,298 (GRCm39) A92T probably benign Het
Arhgap23 T C 11: 97,342,371 (GRCm39) S218P probably benign Het
Blm G A 7: 80,105,102 (GRCm39) Q1389* probably null Het
C1ql4 A T 15: 98,985,605 (GRCm39) V2E unknown Het
Casp12 A G 9: 5,348,897 (GRCm39) probably null Het
Ccdc73 A T 2: 104,829,521 (GRCm39) I1065F possibly damaging Het
Ccdc83 C T 7: 89,873,242 (GRCm39) G371D probably damaging Het
Cfap65 A G 1: 74,965,763 (GRCm39) S416P probably damaging Het
Cftr T A 6: 18,319,012 (GRCm39) C1351S probably damaging Het
Clcn4 A T 7: 7,294,827 (GRCm39) H311Q probably benign Het
Cldn13 T G 5: 134,943,874 (GRCm39) I104L probably benign Het
Cul9 A G 17: 46,821,835 (GRCm39) V1880A possibly damaging Het
Ddx17 A T 15: 79,416,105 (GRCm39) D407E probably damaging Het
Ddx28 G A 8: 106,737,957 (GRCm39) P34S probably damaging Het
Dnah5 A T 15: 28,270,616 (GRCm39) N973Y probably null Het
Dnai4 A T 4: 102,907,384 (GRCm39) I634N possibly damaging Het
Dock10 A G 1: 80,527,421 (GRCm39) probably null Het
Dock3 T C 9: 106,772,723 (GRCm39) D510G probably benign Het
Dst T A 1: 34,230,175 (GRCm39) D2589E probably benign Het
E2f7 T C 10: 110,599,991 (GRCm39) Y249H not run Het
Eef2kmt T C 16: 5,068,373 (GRCm39) Y69C possibly damaging Het
Elapor1 T A 3: 108,371,619 (GRCm39) K650* probably null Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Exog G T 9: 119,291,544 (GRCm39) V274L possibly damaging Het
Fam83e G A 7: 45,371,896 (GRCm39) V98M probably benign Het
Fras1 C T 5: 96,857,745 (GRCm39) T2013I probably benign Het
Gart G T 16: 91,418,569 (GRCm39) A970E probably benign Het
Gga2 T A 7: 121,601,326 (GRCm39) H259L probably benign Het
Glis3 C A 19: 28,508,998 (GRCm39) V329F probably damaging Het
Gm6356 T A 14: 6,972,923 (GRCm38) N53I probably damaging Het
Golgb1 C A 16: 36,736,313 (GRCm39) C1894* probably null Het
Ifi203 T C 1: 173,756,733 (GRCm39) N350S unknown Het
Isy1 T A 6: 87,810,688 (GRCm39) R55S unknown Het
Itsn1 A T 16: 91,636,587 (GRCm39) D678V unknown Het
Lhcgr T A 17: 89,049,506 (GRCm39) R673S probably benign Het
Lnx2 C A 5: 146,956,943 (GRCm39) R601L possibly damaging Het
Map4 A G 9: 109,910,585 (GRCm39) T1093A probably benign Het
Minar1 A G 9: 89,483,679 (GRCm39) S573P probably benign Het
Mink1 A G 11: 70,489,899 (GRCm39) K92E probably benign Het
Moxd1 A G 10: 24,177,363 (GRCm39) I560V probably benign Het
Mrc2 C A 11: 105,220,061 (GRCm39) D327E possibly damaging Het
Notch2 A G 3: 98,038,643 (GRCm39) E1262G possibly damaging Het
Or2g1 T A 17: 38,107,248 (GRCm39) N304K probably benign Het
Or4k48 A G 2: 111,476,297 (GRCm39) L15S probably benign Het
Or52d3 C A 7: 104,229,645 (GRCm39) S264* probably null Het
Or5an1 G A 19: 12,261,180 (GRCm39) G256D possibly damaging Het
Or5b120 T A 19: 13,480,544 (GRCm39) M279K possibly damaging Het
Or5j3 GTACTTTTT GT 2: 86,128,338 (GRCm39) probably null Het
Or5m13 A T 2: 85,748,718 (GRCm39) I150F probably benign Het
Or6c5b A T 10: 129,245,654 (GRCm39) T140S possibly damaging Het
Pcbp2 T A 15: 102,381,782 (GRCm39) V5E probably damaging Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pgghg A T 7: 140,522,953 (GRCm39) Y104F probably benign Het
Plscr2 T C 9: 92,173,193 (GRCm39) probably null Het
Ppfibp1 C T 6: 146,879,551 (GRCm39) A25V probably damaging Het
Ptgfr C T 3: 151,541,034 (GRCm39) G158D probably benign Het
Ptgs2 T C 1: 149,978,446 (GRCm39) F186S probably damaging Het
Ptpn14 A G 1: 189,564,956 (GRCm39) E181G probably benign Het
Rpgrip1 A G 14: 52,368,673 (GRCm39) K291E possibly damaging Het
Rtn4rl1 T C 11: 75,085,122 (GRCm39) probably null Het
Sema3b T A 9: 107,478,141 (GRCm39) M415L probably benign Het
Sh3bp4 A G 1: 89,073,216 (GRCm39) E688G probably damaging Het
Slco6c1 G A 1: 97,055,887 (GRCm39) R5C possibly damaging Het
Slmap A G 14: 26,181,227 (GRCm39) F369L possibly damaging Het
Sphk2 T C 7: 45,361,894 (GRCm39) N181S possibly damaging Het
Sqor A G 2: 122,641,730 (GRCm39) T235A probably benign Het
St13 A G 15: 81,273,854 (GRCm39) L80P probably damaging Het
St3gal6 A G 16: 58,314,074 (GRCm39) Y20H probably benign Het
Sun1 T G 5: 139,234,239 (GRCm39) Y899D probably damaging Het
Synm C T 7: 67,385,128 (GRCm39) E845K possibly damaging Het
Tg A T 15: 66,566,633 (GRCm39) D1227V possibly damaging Het
Tmcc3 A T 10: 94,414,357 (GRCm39) N51Y possibly damaging Het
Usp4 A G 9: 108,265,505 (GRCm39) D856G probably benign Het
Vil1 G A 1: 74,457,603 (GRCm39) A79T probably damaging Het
Vmn1r119 T A 7: 20,746,271 (GRCm39) H37L probably damaging Het
Vmn2r110 A T 17: 20,816,316 (GRCm39) M69K probably benign Het
Ywhaq A G 12: 21,444,982 (GRCm39) L221P probably damaging Het
Zfp142 G A 1: 74,609,167 (GRCm39) Q1543* probably null Het
Zfp384 T A 6: 125,001,793 (GRCm39) M146K possibly 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
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'- ATGAACTATCCAGCATGGTCCTG -3'
(R):5'- TCACTTTGGTAGCAGGCCAG -3'

Sequencing Primer
(F):5'- CAGCATGGTCCTGGAACTG -3'
(R):5'- TTTGGTAGCAGGCCAGAGCAC -3'
Posted On 2019-06-26