Incidental Mutation 'IGL02393:Thbs1'
ID 293908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thbs1
Ensembl Gene ENSMUSG00000040152
Gene Name thrombospondin 1
Synonyms TSP-1, TSP1, tbsp1, Thbs-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02393
Quality Score
Status
Chromosome 2
Chromosomal Location 117942357-117957614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117953580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 999 (V999A)
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: V999A

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044903
Gene: ENSMUSG00000040152
AA Change: V999A

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
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,410,069 (GRCm39) Y129N probably damaging Het
Afap1l2 T C 19: 56,902,872 (GRCm39) K695R probably damaging Het
Arhgap18 T G 10: 26,753,179 (GRCm39) S357R probably benign Het
Camsap1 T C 2: 25,828,334 (GRCm39) H1130R probably benign Het
Cdkl4 A G 17: 80,867,844 (GRCm39) F35L probably damaging Het
Crnn A G 3: 93,056,675 (GRCm39) H487R probably damaging Het
Dcaf4 C T 12: 83,576,805 (GRCm39) P95L probably damaging Het
Deaf1 A T 7: 140,893,246 (GRCm39) V382E possibly damaging Het
Dph7 T G 2: 24,856,609 (GRCm39) V187G possibly damaging Het
Fat3 G T 9: 15,899,708 (GRCm39) C3108* probably null Het
Ggt5 T C 10: 75,446,071 (GRCm39) probably benign Het
Kif26a G A 12: 112,139,098 (GRCm39) V396M probably damaging Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mterf4 C T 1: 93,230,601 (GRCm39) V182I possibly damaging Het
Nsg1 T C 5: 38,316,255 (GRCm39) D32G probably damaging Het
Or5k8 A G 16: 58,644,409 (GRCm39) I221T probably damaging Het
Or6c3 T C 10: 129,309,064 (GRCm39) S168P probably damaging Het
Or6c65 T A 10: 129,603,662 (GRCm39) V99E probably benign Het
P3h2 T C 16: 25,811,575 (GRCm39) Y216C probably damaging Het
Pdzd9 A C 7: 120,262,206 (GRCm39) Y85* probably null Het
Prkdc T A 16: 15,634,622 (GRCm39) V3589D probably benign Het
Qars1 A G 9: 108,391,528 (GRCm39) T26A probably benign Het
Relch A G 1: 105,615,093 (GRCm39) I253M probably damaging Het
Rhd T C 4: 134,611,406 (GRCm39) S189P probably benign Het
Rhobtb1 A T 10: 69,124,817 (GRCm39) H555L probably damaging Het
Rogdi G A 16: 4,827,088 (GRCm39) S306F probably benign Het
Slc25a25 C T 2: 32,307,855 (GRCm39) V259I probably benign Het
Srrm1 A T 4: 135,048,725 (GRCm39) probably benign Het
Stkld1 T C 2: 26,840,154 (GRCm39) V408A probably benign Het
Tmprss11d T A 5: 86,451,471 (GRCm39) *280L probably null Het
Trim54 A G 5: 31,289,324 (GRCm39) probably benign Het
Tspear G A 10: 77,672,407 (GRCm39) R202H probably damaging Het
Vwa8 G A 14: 79,420,417 (GRCm39) G1706D 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
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
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
Posted On 2015-04-16