Incidental Mutation 'R9416:Thbs1'
ID 712037
Institutional Source Beutler Lab
Gene Symbol Thbs1
Ensembl Gene ENSMUSG00000040152
Gene Name thrombospondin 1
Synonyms TSP-1, TSP1, tbsp1, Thbs-1
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9416 (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 117947983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 381 (D381G)
Ref Sequence ENSEMBL: ENSMUSP00000044903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039559]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000039559
AA Change: D381G

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000044903
Gene: ENSMUSG00000040152
AA Change: D381G

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: 99.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C T 4: 86,342,477 (GRCm39) T1672I probably damaging Het
Ahnak T G 19: 8,990,266 (GRCm39) M3850R unknown Het
Cacna1s T A 1: 136,022,689 (GRCm39) L874Q possibly damaging Het
Cacna2d4 A T 6: 119,274,479 (GRCm39) D622V probably benign Het
Ccdc150 T C 1: 54,317,990 (GRCm39) S310P probably damaging Het
Cecr2 A T 6: 120,735,538 (GRCm39) N148Y Het
Celsr2 T C 3: 108,322,084 (GRCm39) T243A probably damaging Het
Coro1b C T 19: 4,201,473 (GRCm39) T279I probably damaging Het
Cyp51 A G 5: 4,150,198 (GRCm39) I175T probably damaging Het
Dnajc21 T C 15: 10,462,048 (GRCm39) I118V possibly damaging Het
Dtna T C 18: 23,780,112 (GRCm39) probably null Het
Etl4 A G 2: 20,748,784 (GRCm39) K374R probably benign Het
Fance G A 17: 28,537,327 (GRCm39) C53Y probably damaging Het
Gm14496 G T 2: 181,640,647 (GRCm39) C538F probably damaging Het
Gon4l T A 3: 88,803,538 (GRCm39) V1383D probably benign Het
Gpr6 C A 10: 40,946,944 (GRCm39) D213Y possibly damaging Het
Has2 A G 15: 56,531,684 (GRCm39) Y344H probably damaging Het
Kcnh2 A T 5: 24,537,964 (GRCm39) M133K probably benign Het
Kdm5a A G 6: 120,365,056 (GRCm39) H152R probably damaging Het
Klhl33 C T 14: 51,130,225 (GRCm39) R163H probably damaging Het
Lax1 T A 1: 133,611,752 (GRCm39) Q61L probably benign Het
Lct T C 1: 128,228,329 (GRCm39) T1055A possibly damaging Het
Lrrc8c A G 5: 105,756,163 (GRCm39) Y646C possibly damaging Het
Mtarc1 T C 1: 184,527,633 (GRCm39) T274A probably benign Het
Myo1b A G 1: 51,902,577 (GRCm39) V51A probably damaging Het
Naip2 T A 13: 100,298,243 (GRCm39) S598C probably damaging Het
Neb A G 2: 52,137,215 (GRCm39) S250P Het
Nim1k A T 13: 120,189,362 (GRCm39) C16S probably benign Het
Oosp1 T C 19: 11,664,769 (GRCm39) T96A probably damaging Het
Or1e1c T C 11: 73,265,790 (GRCm39) S75P probably damaging Het
Or2q1 G T 6: 42,795,197 (GRCm39) R264L probably benign Het
Or8k17 T A 2: 86,066,744 (GRCm39) Q138L probably damaging Het
Pik3c2b C T 1: 133,005,187 (GRCm39) R563C probably damaging Het
Ppp1r18 CGAGGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGAGGA 17: 36,184,743 (GRCm39) probably benign Het
Prps1l1 T A 12: 35,035,089 (GRCm39) M68K Het
Prr11 A T 11: 86,992,254 (GRCm39) L207* probably null Het
Psme3 T C 11: 101,211,559 (GRCm39) Y202H probably damaging Het
Ptma A G 1: 86,455,694 (GRCm39) S57G unknown Het
Rab24 A G 13: 55,468,049 (GRCm39) V33A unknown Het
Reep6 A G 10: 80,166,091 (GRCm39) T83A probably benign Het
Semp2l2b C T 10: 21,943,752 (GRCm39) R76Q probably benign Het
Shroom4 GCAACAACAACAACAACAACAACAACA GCAACAACAACAACAACAACAACA X: 6,536,131 (GRCm39) probably benign Het
Siglec1 T C 2: 130,925,390 (GRCm39) K357R probably benign Het
Slc2a4 T A 11: 69,836,728 (GRCm39) H167L probably benign Het
Slc8a3 T A 12: 81,361,838 (GRCm39) H327L probably benign Het
Slf1 G A 13: 77,194,656 (GRCm39) L890F Het
Smchd1 A C 17: 71,701,791 (GRCm39) I1067R probably benign Het
Stk33 T A 7: 108,940,689 (GRCm39) N7I probably benign Het
Tex47 T C 5: 7,355,194 (GRCm39) M125T possibly damaging Het
Thada A T 17: 84,766,292 (GRCm39) L38* probably null Het
Uggt1 A T 1: 36,203,603 (GRCm39) V1009D Het
Usp17la A T 7: 104,508,531 (GRCm39) probably benign Het
Zfp438 A T 18: 5,214,054 (GRCm39) N301K probably benign Het
Zfp606 T A 7: 12,227,907 (GRCm39) I676N 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
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
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'- CACTGGCACTGTAGTTGCTTAGG -3'
(R):5'- TTGGCAGCCATGATGCTTAC -3'

Sequencing Primer
(F):5'- TGGATAGCCAAGCGTCTGG -3'
(R):5'- ACATCTTTTGTCACACTCCTGAATG -3'
Posted On 2022-05-16