Incidental Mutation 'R5801:Thbs3'
ID 448327
Institutional Source Beutler Lab
Gene Symbol Thbs3
Ensembl Gene ENSMUSG00000028047
Gene Name thrombospondin 3
Synonyms TSP3, Thbs-3
MMRRC Submission 043390-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.558) question?
Stock # R5801 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89122487-89134144 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89131704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 692 (Y692F)
Ref Sequence ENSEMBL: ENSMUSP00000112912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029682] [ENSMUST00000041142] [ENSMUST00000119084] [ENSMUST00000174126]
AlphaFold Q05895
Predicted Effect probably benign
Transcript: ENSMUST00000029682
AA Change: Y729F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047
AA Change: Y729F

DomainStartEndE-ValueType
TSPN 21 193 4.71e-56 SMART
Pfam:COMP 226 270 2.5e-22 PFAM
EGF 277 315 8.19e-2 SMART
EGF_CA 316 369 6.91e-9 SMART
EGF_CA 370 413 1.38e-8 SMART
EGF 417 456 1.99e0 SMART
Pfam:TSP_3 492 527 1e-12 PFAM
Pfam:TSP_3 551 586 2.2e-16 PFAM
Pfam:TSP_3 586 609 6.6e-7 PFAM
Pfam:TSP_3 610 647 2.6e-14 PFAM
Pfam:TSP_3 648 687 2.4e-10 PFAM
Pfam:TSP_3 688 723 4.2e-15 PFAM
Pfam:TSP_C 741 938 3.3e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000041142
SMART Domains Protein: ENSMUSP00000041963
Gene: ENSMUSG00000042784

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 30 46 N/A INTRINSIC
internal_repeat_2 48 106 4.93e-6 PROSPERO
internal_repeat_1 79 151 3.46e-38 PROSPERO
low complexity region 153 181 N/A INTRINSIC
internal_repeat_1 183 254 3.46e-38 PROSPERO
internal_repeat_2 192 259 4.93e-6 PROSPERO
low complexity region 277 292 N/A INTRINSIC
low complexity region 296 307 N/A INTRINSIC
low complexity region 370 381 N/A INTRINSIC
low complexity region 382 400 N/A INTRINSIC
SEA 412 528 6.2e-43 SMART
low complexity region 537 552 N/A INTRINSIC
Blast:SEA 557 624 2e-36 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102300
Predicted Effect probably benign
Transcript: ENSMUST00000119084
AA Change: Y692F

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112912
Gene: ENSMUSG00000028047
AA Change: Y692F

DomainStartEndE-ValueType
TSPN 21 193 4.71e-56 SMART
Pfam:COMP 226 270 8.2e-26 PFAM
EGF 277 315 8.19e-2 SMART
EGF_CA 316 369 6.91e-9 SMART
EGF_CA 370 413 1.38e-8 SMART
Pfam:TSP_3 455 490 4.4e-13 PFAM
Pfam:TSP_3 514 549 9.3e-17 PFAM
Pfam:TSP_3 549 572 2.8e-7 PFAM
Pfam:TSP_3 573 610 1.1e-14 PFAM
Pfam:TSP_3 611 650 1e-10 PFAM
Pfam:TSP_3 651 686 1.8e-15 PFAM
Pfam:TSP_C 704 904 7.9e-108 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174324
Predicted Effect unknown
Transcript: ENSMUST00000136881
AA Change: Y36F
SMART Domains Protein: ENSMUSP00000120337
Gene: ENSMUSG00000028047
AA Change: Y36F

DomainStartEndE-ValueType
Pfam:TSP_3 1 31 5.8e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126700
Predicted Effect probably benign
Transcript: ENSMUST00000174126
SMART Domains Protein: ENSMUSP00000133291
Gene: ENSMUSG00000064068

DomainStartEndE-ValueType
Pfam:Tom37_C 1 74 7.6e-23 PFAM
Pfam:GST_C_3 7 143 7.3e-12 PFAM
Pfam:GST_C_2 26 137 2.8e-9 PFAM
Pfam:Tom37_C 61 129 6.2e-15 PFAM
low complexity region 159 169 N/A INTRINSIC
Meta Mutation Damage Score 0.1261 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice at a young age are heavier and exhibit femurs with increased periosteal and endocortical diameters, greater moments of inertia and increased bending strength and failure loads, with these defects no longer detected in older mice. Femoral heads show accelerated bone ossification. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 T A 4: 144,430,206 (GRCm39) D261V probably damaging Het
Adam15 C T 3: 89,249,668 (GRCm39) V667I probably damaging Het
Adamts14 T C 10: 61,038,775 (GRCm39) S912G probably damaging Het
Adamts20 C A 15: 94,245,551 (GRCm39) E584* probably null Het
Ago3 A T 4: 126,265,561 (GRCm39) N284K possibly damaging Het
Alx3 T A 3: 107,512,257 (GRCm39) Y298* probably null Het
Arhgap32 A G 9: 32,167,084 (GRCm39) I574V probably benign Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Caskin2 T C 11: 115,694,299 (GRCm39) D400G probably damaging Het
Cdc73 T A 1: 143,484,281 (GRCm39) H525L probably benign Het
Cep135 A G 5: 76,778,523 (GRCm39) E674G probably damaging Het
Cic G A 7: 24,970,863 (GRCm39) R198Q possibly damaging Het
Col5a2 T C 1: 45,428,641 (GRCm39) probably null Het
Col6a5 A G 9: 105,825,566 (GRCm39) V9A unknown Het
Cpsf7 A T 19: 10,516,996 (GRCm39) D366V probably benign Het
Cuedc2 T C 19: 46,319,796 (GRCm39) E173G probably damaging Het
D5Ertd579e T C 5: 36,761,913 (GRCm39) E1318G probably damaging Het
Ddx55 T C 5: 124,704,560 (GRCm39) probably null Het
Dennd1b T A 1: 138,967,727 (GRCm39) probably null Het
Dpy19l3 T C 7: 35,424,723 (GRCm39) T111A probably benign Het
Edn1 C A 13: 42,460,282 (GRCm39) A179E probably benign Het
Eif2b1 T C 5: 124,712,775 (GRCm39) probably null Het
Epha5 A G 5: 84,479,085 (GRCm39) probably null Het
Erc1 T A 6: 119,750,783 (GRCm39) N466I probably damaging Het
Ermp1 A G 19: 29,590,228 (GRCm39) F825L probably damaging Het
Fbh1 T C 2: 11,774,637 (GRCm39) D36G probably damaging Het
Fbxo41 G T 6: 85,461,515 (GRCm39) F64L probably damaging Het
Gabrb2 T C 11: 42,312,216 (GRCm39) S14P probably benign Het
Gm6505 A T 3: 28,819,116 (GRCm39) noncoding transcript Het
Ighv1-18 T A 12: 114,646,328 (GRCm39) D91V probably damaging Het
Imp3 A G 9: 56,845,086 (GRCm39) D99G probably benign Het
Iqub T C 6: 24,449,768 (GRCm39) K699R probably benign Het
Itpk1 A G 12: 102,540,204 (GRCm39) V293A probably damaging Het
Lrrc49 A T 9: 60,509,916 (GRCm39) F157L probably damaging Het
Mapk1ip1 T A 7: 138,438,239 (GRCm39) T64S possibly damaging Het
Mrpl9 T C 3: 94,355,103 (GRCm39) L225P possibly damaging Het
Ms4a14 A G 19: 11,279,150 (GRCm39) L1136S possibly damaging Het
Ms4a14 A T 19: 11,279,246 (GRCm39) I1104K possibly damaging Het
Nkain2 T C 10: 32,278,264 (GRCm39) T54A probably damaging Het
Ociad2 A G 5: 73,483,642 (GRCm39) F60S probably damaging Het
Or1e1f T C 11: 73,855,772 (GRCm39) F113L probably benign Het
Polk T A 13: 96,620,094 (GRCm39) H723L probably damaging Het
Prickle4 C A 17: 47,999,698 (GRCm39) R285L possibly damaging Het
Psmd2 A G 16: 20,473,672 (GRCm39) N121S probably damaging Het
Rab11fip5 T A 6: 85,314,582 (GRCm39) S1212C probably damaging Het
Rasgef1c T G 11: 49,860,883 (GRCm39) M266R probably damaging Het
Rpusd4 A G 9: 35,181,369 (GRCm39) E155G possibly damaging Het
Rrbp1 A G 2: 143,831,703 (GRCm39) S155P probably damaging Het
Safb2 T C 17: 56,870,103 (GRCm39) Y991C possibly damaging Het
Shank1 G A 7: 44,006,240 (GRCm39) E1986K possibly damaging Het
Slc22a14 A G 9: 119,001,149 (GRCm39) F482L probably benign Het
Slc35e3 T A 10: 117,581,767 (GRCm39) M109L probably benign Het
Slco4c1 T C 1: 96,799,809 (GRCm39) N9S probably damaging Het
Slco6b1 C T 1: 96,875,356 (GRCm39) noncoding transcript Het
Sptan1 A G 2: 29,920,613 (GRCm39) probably null Het
Sptlc2 T C 12: 87,388,545 (GRCm39) probably null Het
Stk10 C T 11: 32,546,748 (GRCm39) P335L probably benign Het
Strip1 A C 3: 107,528,757 (GRCm39) L391R possibly damaging Het
Tacr1 T A 6: 82,534,134 (GRCm39) S387T probably benign Het
Thbs2 A T 17: 14,908,125 (GRCm39) F213I probably damaging Het
Tktl2 C A 8: 66,966,299 (GRCm39) A619E probably benign Het
Tmc3 A T 7: 83,271,686 (GRCm39) E946V possibly damaging Het
Tmem132d A G 5: 127,861,964 (GRCm39) V719A possibly damaging Het
Trpa1 T C 1: 14,968,302 (GRCm39) H488R probably damaging Het
Tsfm TCACTCC TCACTCCACTCC 10: 126,858,706 (GRCm39) probably null Het
Wdr35 A G 12: 9,056,723 (GRCm39) T503A possibly damaging Het
Zfp109 T C 7: 23,928,126 (GRCm39) K436E probably damaging Het
Zfp423 A G 8: 88,585,990 (GRCm39) Y78H probably damaging Het
Zfp970 A G 2: 177,165,151 (GRCm39) K26E probably damaging Het
Other mutations in Thbs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01838:Thbs3 APN 3 89,126,365 (GRCm39) nonsense probably null
IGL02927:Thbs3 APN 3 89,127,514 (GRCm39) missense probably damaging 0.98
IGL02980:Thbs3 UTSW 3 89,130,451 (GRCm39) missense probably benign
R0648:Thbs3 UTSW 3 89,123,972 (GRCm39) splice site probably null
R0690:Thbs3 UTSW 3 89,127,472 (GRCm39) missense possibly damaging 0.50
R1856:Thbs3 UTSW 3 89,133,713 (GRCm39) missense probably damaging 1.00
R1928:Thbs3 UTSW 3 89,125,067 (GRCm39) missense probably damaging 1.00
R2116:Thbs3 UTSW 3 89,126,699 (GRCm39) missense probably damaging 1.00
R4600:Thbs3 UTSW 3 89,131,897 (GRCm39) missense probably damaging 0.97
R4719:Thbs3 UTSW 3 89,124,147 (GRCm39) missense probably damaging 1.00
R4947:Thbs3 UTSW 3 89,133,738 (GRCm39) missense probably damaging 1.00
R4989:Thbs3 UTSW 3 89,130,409 (GRCm39) intron probably benign
R5134:Thbs3 UTSW 3 89,130,409 (GRCm39) intron probably benign
R5217:Thbs3 UTSW 3 89,130,471 (GRCm39) critical splice donor site probably null
R5305:Thbs3 UTSW 3 89,125,283 (GRCm39) intron probably benign
R5354:Thbs3 UTSW 3 89,128,684 (GRCm39) missense probably damaging 1.00
R5444:Thbs3 UTSW 3 89,130,692 (GRCm39) intron probably benign
R5569:Thbs3 UTSW 3 89,126,770 (GRCm39) missense probably damaging 1.00
R5646:Thbs3 UTSW 3 89,126,405 (GRCm39) missense probably damaging 1.00
R5886:Thbs3 UTSW 3 89,127,470 (GRCm39) missense probably damaging 1.00
R6031:Thbs3 UTSW 3 89,125,401 (GRCm39) missense probably damaging 0.99
R6031:Thbs3 UTSW 3 89,125,401 (GRCm39) missense probably damaging 0.99
R6943:Thbs3 UTSW 3 89,132,171 (GRCm39) missense probably benign 0.01
R7017:Thbs3 UTSW 3 89,131,722 (GRCm39) missense probably damaging 1.00
R7352:Thbs3 UTSW 3 89,132,587 (GRCm39) missense probably benign 0.03
R7570:Thbs3 UTSW 3 89,126,359 (GRCm39) nonsense probably null
R7671:Thbs3 UTSW 3 89,124,014 (GRCm39) missense probably benign 0.01
R7707:Thbs3 UTSW 3 89,132,207 (GRCm39) missense possibly damaging 0.88
R8255:Thbs3 UTSW 3 89,132,565 (GRCm39) missense probably benign
R8341:Thbs3 UTSW 3 89,132,698 (GRCm39) missense probably benign
R8769:Thbs3 UTSW 3 89,131,937 (GRCm39) intron probably benign
R9536:Thbs3 UTSW 3 89,124,044 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- TTTGCTCAGGAGACAGGCCTAC -3'
(R):5'- GAACAATTTCCATGCCCTGGG -3'

Sequencing Primer
(F):5'- CAGGCCTACTGGAGGGAGTG -3'
(R):5'- CCATGCCCTGGGGTTGATAAAG -3'
Posted On 2016-12-15