Incidental Mutation 'R0087:Thbs4'
ID 19976
Institutional Source Beutler Lab
Gene Symbol Thbs4
Ensembl Gene ENSMUSG00000021702
Gene Name thrombospondin 4
Synonyms TSP4, TSP-4
MMRRC Submission 038374-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0087 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 13
Chromosomal Location 92888098-92931326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92891743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 791 (T791S)
Ref Sequence ENSEMBL: ENSMUSP00000022213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022213]
AlphaFold Q9Z1T2
Predicted Effect probably damaging
Transcript: ENSMUST00000022213
AA Change: T791S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022213
Gene: ENSMUSG00000021702
AA Change: T791S

DomainStartEndE-ValueType
low complexity region 6 18 N/A INTRINSIC
TSPN 26 194 1.66e-51 SMART
Pfam:COMP 220 264 1.2e-24 PFAM
low complexity region 280 290 N/A INTRINSIC
EGF 291 327 1.04e-3 SMART
EGF_CA 328 380 7.29e-8 SMART
EGF_CA 381 421 1.42e-10 SMART
EGF 425 464 4.32e-1 SMART
Pfam:TSP_3 498 533 7.1e-15 PFAM
Pfam:TSP_3 557 592 7.8e-17 PFAM
Pfam:TSP_3 616 653 1.4e-11 PFAM
Pfam:TSP_3 654 693 1.3e-10 PFAM
Pfam:TSP_3 694 729 1e-14 PFAM
Pfam:TSP_C 747 944 3.8e-102 PFAM
Meta Mutation Damage Score 0.7168 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
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 protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. It is involved in local signaling in the developing and adult nervous system, and it contributes to spinal sensitization and neuropathic pain states. This gene is activated during the stromal response to invasive breast cancer. It may also play a role in inflammatory responses in Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a targeted allele exhibit increased sensitivity to cardiac pressure overload, including increased hypertrophy, decreased ejection fraction, decreased microvessle number, increased extracellular matrix deposition and increased fibrosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Agps T A 2: 75,739,979 (GRCm39) Y488N probably damaging Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Chrna6 C T 8: 27,897,014 (GRCm39) V288M probably damaging Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Degs1 A G 1: 182,106,875 (GRCm39) I128T probably benign Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Ncam2 C A 16: 81,231,789 (GRCm39) N84K probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Pdgfrb A T 18: 61,194,585 (GRCm39) I121F probably damaging Het
Peak1 A T 9: 56,165,609 (GRCm39) I773N probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Pkm C T 9: 59,585,382 (GRCm39) R455* probably null Het
Plbd2 C A 5: 120,632,550 (GRCm39) E151* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Srsf4 A G 4: 131,627,641 (GRCm39) probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Taf1c C T 8: 120,327,726 (GRCm39) R332H probably damaging Het
Tjap1 A G 17: 46,574,652 (GRCm39) L21P probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N probably damaging Het
Other mutations in Thbs4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Thbs4 APN 13 92,913,488 (GRCm39) missense probably benign 0.04
IGL02318:Thbs4 APN 13 92,900,092 (GRCm39) missense probably damaging 1.00
IGL02887:Thbs4 APN 13 92,927,306 (GRCm39) missense probably benign 0.00
IGL03205:Thbs4 APN 13 92,899,282 (GRCm39) missense probably damaging 1.00
IGL03382:Thbs4 APN 13 92,906,056 (GRCm39) missense probably benign 0.37
R0128:Thbs4 UTSW 13 92,890,918 (GRCm39) missense probably benign 0.00
R0130:Thbs4 UTSW 13 92,890,918 (GRCm39) missense probably benign 0.00
R0276:Thbs4 UTSW 13 92,912,040 (GRCm39) missense probably benign 0.00
R0423:Thbs4 UTSW 13 92,893,079 (GRCm39) missense probably damaging 0.99
R0504:Thbs4 UTSW 13 92,903,692 (GRCm39) missense probably benign 0.04
R0708:Thbs4 UTSW 13 92,909,694 (GRCm39) missense probably damaging 1.00
R0836:Thbs4 UTSW 13 92,894,546 (GRCm39) missense probably damaging 1.00
R1078:Thbs4 UTSW 13 92,899,434 (GRCm39) splice site probably benign
R1139:Thbs4 UTSW 13 92,911,226 (GRCm39) missense probably damaging 1.00
R1253:Thbs4 UTSW 13 92,913,413 (GRCm39) missense probably benign 0.17
R1342:Thbs4 UTSW 13 92,888,925 (GRCm39) missense probably damaging 1.00
R1416:Thbs4 UTSW 13 92,898,041 (GRCm39) missense probably benign
R1834:Thbs4 UTSW 13 92,897,989 (GRCm39) missense probably benign 0.00
R1950:Thbs4 UTSW 13 92,906,079 (GRCm39) missense probably damaging 0.99
R2056:Thbs4 UTSW 13 92,927,387 (GRCm39) missense probably benign 0.00
R2184:Thbs4 UTSW 13 92,911,302 (GRCm39) missense probably benign
R2198:Thbs4 UTSW 13 92,899,779 (GRCm39) missense possibly damaging 0.78
R2859:Thbs4 UTSW 13 92,927,216 (GRCm39) missense probably benign 0.02
R3605:Thbs4 UTSW 13 92,894,467 (GRCm39) nonsense probably null
R3783:Thbs4 UTSW 13 92,909,672 (GRCm39) missense probably benign 0.09
R3784:Thbs4 UTSW 13 92,909,672 (GRCm39) missense probably benign 0.09
R3786:Thbs4 UTSW 13 92,909,672 (GRCm39) missense probably benign 0.09
R3787:Thbs4 UTSW 13 92,909,672 (GRCm39) missense probably benign 0.09
R4061:Thbs4 UTSW 13 92,912,605 (GRCm39) critical splice donor site probably null
R4790:Thbs4 UTSW 13 92,899,314 (GRCm39) missense probably damaging 1.00
R4968:Thbs4 UTSW 13 92,894,576 (GRCm39) missense possibly damaging 0.55
R4983:Thbs4 UTSW 13 92,927,207 (GRCm39) missense probably benign 0.29
R5185:Thbs4 UTSW 13 92,911,675 (GRCm39) missense probably damaging 0.97
R5352:Thbs4 UTSW 13 92,900,098 (GRCm39) missense probably damaging 1.00
R5361:Thbs4 UTSW 13 92,913,501 (GRCm39) missense probably benign
R5589:Thbs4 UTSW 13 92,912,582 (GRCm39) splice site probably null
R5700:Thbs4 UTSW 13 92,913,461 (GRCm39) missense probably benign 0.00
R6061:Thbs4 UTSW 13 92,888,303 (GRCm39) missense probably benign 0.00
R6101:Thbs4 UTSW 13 92,911,993 (GRCm39) missense possibly damaging 0.90
R6105:Thbs4 UTSW 13 92,911,993 (GRCm39) missense possibly damaging 0.90
R6227:Thbs4 UTSW 13 92,911,190 (GRCm39) missense probably null 1.00
R6249:Thbs4 UTSW 13 92,911,215 (GRCm39) missense probably damaging 1.00
R6651:Thbs4 UTSW 13 92,893,044 (GRCm39) missense probably benign 0.06
R6735:Thbs4 UTSW 13 92,891,674 (GRCm39) missense possibly damaging 0.71
R6885:Thbs4 UTSW 13 92,899,377 (GRCm39) missense probably damaging 0.96
R6913:Thbs4 UTSW 13 92,894,444 (GRCm39) missense possibly damaging 0.94
R7409:Thbs4 UTSW 13 92,909,767 (GRCm39) nonsense probably null
R7480:Thbs4 UTSW 13 92,903,729 (GRCm39) missense probably benign 0.00
R7682:Thbs4 UTSW 13 92,912,070 (GRCm39) missense probably benign 0.21
R8022:Thbs4 UTSW 13 92,888,955 (GRCm39) missense probably damaging 1.00
R8213:Thbs4 UTSW 13 92,897,094 (GRCm39) critical splice acceptor site probably null
R8231:Thbs4 UTSW 13 92,911,352 (GRCm39) missense probably benign
R8353:Thbs4 UTSW 13 92,927,325 (GRCm39) missense probably benign 0.04
R8445:Thbs4 UTSW 13 92,927,349 (GRCm39) missense probably benign 0.00
R8453:Thbs4 UTSW 13 92,927,325 (GRCm39) missense probably benign 0.04
R8520:Thbs4 UTSW 13 92,890,792 (GRCm39) nonsense probably null
R8560:Thbs4 UTSW 13 92,891,608 (GRCm39) missense probably damaging 0.97
R8774:Thbs4 UTSW 13 92,898,030 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Thbs4 UTSW 13 92,898,030 (GRCm39) missense probably damaging 1.00
R9061:Thbs4 UTSW 13 92,911,187 (GRCm39) critical splice donor site probably null
R9223:Thbs4 UTSW 13 92,897,998 (GRCm39) missense probably damaging 1.00
R9653:Thbs4 UTSW 13 92,898,022 (GRCm39) missense probably benign
R9691:Thbs4 UTSW 13 92,890,896 (GRCm39) missense probably damaging 1.00
R9778:Thbs4 UTSW 13 92,913,495 (GRCm39) missense probably benign 0.17
Z1177:Thbs4 UTSW 13 92,890,884 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATAGGTTGAAAGGTGCAGGCTC -3'
(R):5'- TGTGCAGACCATGAACAGTGACCC -3'

Sequencing Primer
(F):5'- AAGGTTGTCGCTCAAGGCTC -3'
(R):5'- ACCCTGGCCTAGCTGTTG -3'
Posted On 2013-04-11