Incidental Mutation 'IGL03382:Thbs4'
ID420721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thbs4
Ensembl Gene ENSMUSG00000021702
Gene Namethrombospondin 4
SynonymsTSP-4, TSP4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03382
Quality Score
Status
Chromosome13
Chromosomal Location92751590-92794818 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 92769548 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 395 (I395S)
Ref Sequence ENSEMBL: ENSMUSP00000022213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022213]
Predicted Effect probably benign
Transcript: ENSMUST00000022213
AA Change: I395S

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022213
Gene: ENSMUSG00000021702
AA Change: I395S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168299
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik C T 19: 29,717,276 G1606R probably damaging Het
Aff1 A G 5: 103,841,060 D831G possibly damaging Het
Amer2 A G 14: 60,379,882 K509E possibly damaging Het
Ankrd6 T C 4: 32,808,771 K449E probably damaging Het
Atp8b2 G A 3: 89,948,521 P459L probably benign Het
Atr C T 9: 95,920,822 R1846* probably null Het
Ccdc159 C A 9: 21,931,696 probably null Het
Ccna1 A C 3: 55,047,277 Y338D probably damaging Het
Cpq A T 15: 33,212,943 E36V probably damaging Het
Cyp2c23 A G 19: 44,014,932 I268T probably damaging Het
Dctn2 G T 10: 127,278,188 Q332H probably damaging Het
Dnah17 T A 11: 118,081,943 I2055F probably damaging Het
Dnmt3b A G 2: 153,686,359 H764R probably damaging Het
Gphn T A 12: 78,481,313 I135K probably damaging Het
Hnrnpul1 A G 7: 25,750,984 M1T probably null Het
Htra4 T C 8: 25,029,698 D406G probably benign Het
Klk10 G T 7: 43,784,459 probably benign Het
Lilrb4a T A 10: 51,491,520 W53R probably benign Het
Magel2 T C 7: 62,378,713 V455A probably benign Het
Mrgprb5 T C 7: 48,168,694 T98A probably benign Het
Mrps35 T A 6: 147,049,875 C76* probably null Het
Myh7b C T 2: 155,623,479 R701C probably damaging Het
Nbeal1 G A 1: 60,261,586 probably null Het
Neb T A 2: 52,325,708 M196L probably benign Het
Nmd3 A G 3: 69,735,088 K207R probably damaging Het
Plxna4 C T 6: 32,202,194 R962Q probably benign Het
Pom121 T C 5: 135,392,407 K230E unknown Het
Psme4 A G 11: 30,807,788 D307G possibly damaging Het
Rnf41 T G 10: 128,438,280 M267R possibly damaging Het
Sis T C 3: 72,928,719 N846D probably benign Het
Slc22a19 T A 19: 7,681,862 I463L probably benign Het
Slc25a39 A T 11: 102,406,204 probably null Het
Slc35b2 C T 17: 45,566,645 R233C probably damaging Het
Slc4a4 T C 5: 89,228,836 L983P probably damaging Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Tbc1d10a A G 11: 4,209,984 Y123C probably damaging Het
Triml2 A G 8: 43,193,739 T422A probably benign Het
Ubn2 T C 6: 38,440,447 probably benign Het
Vmn1r15 T A 6: 57,258,570 M141K probably benign Het
Vmn2r80 A G 10: 79,169,528 E333G probably damaging Het
Zfp169 T C 13: 48,491,163 probably benign Het
Zfp942 G A 17: 21,929,102 P182L probably benign Het
Other mutations in Thbs4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Thbs4 APN 13 92776980 missense probably benign 0.04
IGL02318:Thbs4 APN 13 92763584 missense probably damaging 1.00
IGL02887:Thbs4 APN 13 92790798 missense probably benign 0.00
IGL03205:Thbs4 APN 13 92762774 missense probably damaging 1.00
R0087:Thbs4 UTSW 13 92755235 missense probably damaging 0.99
R0128:Thbs4 UTSW 13 92754410 missense probably benign 0.00
R0130:Thbs4 UTSW 13 92754410 missense probably benign 0.00
R0276:Thbs4 UTSW 13 92775532 missense probably benign 0.00
R0423:Thbs4 UTSW 13 92756571 missense probably damaging 0.99
R0504:Thbs4 UTSW 13 92767184 missense probably benign 0.04
R0708:Thbs4 UTSW 13 92773186 missense probably damaging 1.00
R0836:Thbs4 UTSW 13 92758038 missense probably damaging 1.00
R1078:Thbs4 UTSW 13 92762926 splice site probably benign
R1139:Thbs4 UTSW 13 92774718 missense probably damaging 1.00
R1253:Thbs4 UTSW 13 92776905 missense probably benign 0.17
R1342:Thbs4 UTSW 13 92752417 missense probably damaging 1.00
R1416:Thbs4 UTSW 13 92761533 missense probably benign
R1834:Thbs4 UTSW 13 92761481 missense probably benign 0.00
R1950:Thbs4 UTSW 13 92769571 missense probably damaging 0.99
R2056:Thbs4 UTSW 13 92790879 missense probably benign 0.00
R2184:Thbs4 UTSW 13 92774794 missense probably benign
R2198:Thbs4 UTSW 13 92763271 missense possibly damaging 0.78
R2859:Thbs4 UTSW 13 92790708 missense probably benign 0.02
R3605:Thbs4 UTSW 13 92757959 nonsense probably null
R3783:Thbs4 UTSW 13 92773164 missense probably benign 0.09
R3784:Thbs4 UTSW 13 92773164 missense probably benign 0.09
R3786:Thbs4 UTSW 13 92773164 missense probably benign 0.09
R3787:Thbs4 UTSW 13 92773164 missense probably benign 0.09
R4061:Thbs4 UTSW 13 92776097 critical splice donor site probably null
R4790:Thbs4 UTSW 13 92762806 missense probably damaging 1.00
R4968:Thbs4 UTSW 13 92758068 missense possibly damaging 0.55
R4983:Thbs4 UTSW 13 92790699 missense probably benign 0.29
R5185:Thbs4 UTSW 13 92775167 missense probably damaging 0.97
R5352:Thbs4 UTSW 13 92763590 missense probably damaging 1.00
R5361:Thbs4 UTSW 13 92776993 missense probably benign
R5589:Thbs4 UTSW 13 92776074 splice site probably null
R5700:Thbs4 UTSW 13 92776953 missense probably benign 0.00
R6061:Thbs4 UTSW 13 92751795 missense probably benign 0.00
R6101:Thbs4 UTSW 13 92775485 missense possibly damaging 0.90
R6105:Thbs4 UTSW 13 92775485 missense possibly damaging 0.90
R6227:Thbs4 UTSW 13 92774682 missense probably null 1.00
R6249:Thbs4 UTSW 13 92774707 missense probably damaging 1.00
R6651:Thbs4 UTSW 13 92756536 missense probably benign 0.06
R6735:Thbs4 UTSW 13 92755166 missense possibly damaging 0.71
R6885:Thbs4 UTSW 13 92762869 missense probably damaging 0.96
R6913:Thbs4 UTSW 13 92757936 missense possibly damaging 0.94
R7409:Thbs4 UTSW 13 92773259 nonsense probably null
R7480:Thbs4 UTSW 13 92767221 missense probably benign 0.00
R7682:Thbs4 UTSW 13 92775562 missense probably benign 0.21
R8022:Thbs4 UTSW 13 92752447 missense probably damaging 1.00
R8213:Thbs4 UTSW 13 92760586 critical splice acceptor site probably null
R8231:Thbs4 UTSW 13 92774844 missense probably benign
R8353:Thbs4 UTSW 13 92790817 missense probably benign 0.04
R8445:Thbs4 UTSW 13 92790841 missense probably benign 0.00
R8453:Thbs4 UTSW 13 92790817 missense probably benign 0.04
Z1177:Thbs4 UTSW 13 92754376 missense probably damaging 1.00
Posted On2016-08-02