Incidental Mutation 'IGL02887:Thbs4'
ID363824
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 #IGL02887
Quality Score
Status
Chromosome13
Chromosomal Location92751590-92794818 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92790798 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 61 (Y61F)
Ref Sequence ENSEMBL: ENSMUSP00000022213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022213]
Predicted Effect probably benign
Transcript: ENSMUST00000022213
AA Change: Y61F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000022213
Gene: ENSMUSG00000021702
AA Change: Y61F

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
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,258,885 Y69H probably damaging Het
Afap1l2 A T 19: 56,920,563 S310R probably damaging Het
Aldh7a1 A G 18: 56,542,216 probably benign Het
Anxa8 T A 14: 34,096,524 probably null Het
Ap1ar T C 3: 127,808,543 E282G probably damaging Het
Arl6ip6 T G 2: 53,202,927 S155A probably benign Het
Armc9 T C 1: 86,164,835 F107S probably damaging Het
Ash1l C A 3: 88,984,181 D1122E probably benign Het
Atp2b4 T A 1: 133,728,774 I713F probably damaging Het
BC005624 A C 2: 30,973,305 probably benign Het
Calcrl T C 2: 84,339,242 D365G probably benign Het
Ccdc110 A G 8: 45,943,184 N704S probably benign Het
Ccr10 G T 11: 101,174,666 L13I probably benign Het
Cfap52 A G 11: 67,953,515 Y125H probably damaging Het
Cnr2 C A 4: 135,917,625 T338K possibly damaging Het
Cntn2 T A 1: 132,516,570 D935V probably damaging Het
Cog7 T C 7: 121,943,844 K448R possibly damaging Het
Csnk1g2 G A 10: 80,638,535 D197N probably damaging Het
Cyp2e1 T A 7: 140,763,911 S21T probably damaging Het
Dcaf11 T C 14: 55,564,135 F187L probably damaging Het
Dmd T A X: 83,878,504 F1460Y probably benign Het
Dnah11 G A 12: 117,911,040 A4030V probably damaging Het
Dnah7a A G 1: 53,522,360 V2046A possibly damaging Het
Dnajc6 T C 4: 101,639,300 I820T probably damaging Het
Dsel T C 1: 111,860,732 D691G possibly damaging Het
Fbp1 T A 13: 62,869,080 M203L probably benign Het
Fndc1 T C 17: 7,773,638 T409A unknown Het
Golgb1 T G 16: 36,925,849 L2930R probably damaging Het
Htr2a A G 14: 74,645,143 T190A probably benign Het
Klra4 C T 6: 130,044,070 C254Y probably damaging Het
Large1 A T 8: 73,132,039 V67E probably benign Het
Lins1 T C 7: 66,714,183 S609P probably damaging Het
Magi3 T C 3: 104,095,157 E156G probably damaging Het
Mdh1b A G 1: 63,715,364 probably benign Het
Mfsd6 T C 1: 52,708,878 D276G probably benign Het
Myh9 T A 15: 77,796,020 K185* probably null Het
Myof T C 19: 37,920,779 probably null Het
Naip2 T G 13: 100,161,512 Y672S possibly damaging Het
Nbeal1 A G 1: 60,287,444 probably benign Het
Nbeal2 T A 9: 110,628,276 H2273L probably damaging Het
Neb T C 2: 52,200,721 K1346E possibly damaging Het
Nfatc2 T C 2: 168,504,450 D908G probably damaging Het
Nlgn2 T C 11: 69,827,254 N375S probably benign Het
Nova1 G T 12: 46,720,722 Q139K unknown Het
Olfr328 A G 11: 58,552,161 L26P probably damaging Het
Olfr775 T A 10: 129,250,925 Y130* probably null Het
Olfr978 T A 9: 39,993,813 M1K probably null Het
Opa3 A T 7: 19,228,582 Q47L probably damaging Het
Pacs1 A T 19: 5,135,110 probably benign Het
Pappa2 T A 1: 158,782,259 H1544L probably damaging Het
Pax8 A G 2: 24,444,615 S48P probably damaging Het
Pdilt T C 7: 119,498,049 N70S possibly damaging Het
Poldip3 T C 15: 83,129,268 probably benign Het
Ppp6r1 T A 7: 4,642,212 I80F probably damaging Het
Pycr2 T A 1: 180,904,739 probably null Het
Rapgef2 C T 3: 79,068,880 probably benign Het
Rbm44 T A 1: 91,153,180 D363E probably damaging Het
Rnf213 A T 11: 119,427,510 I1046F probably damaging Het
Ryr2 A G 13: 11,591,269 S4476P probably damaging Het
Scara5 G A 14: 65,762,829 D483N unknown Het
Scmh1 T A 4: 120,468,389 F101Y probably damaging Het
Sgo2a T A 1: 58,016,352 V565E probably damaging Het
Simc1 T C 13: 54,525,258 M473T probably benign Het
Skint6 T A 4: 113,238,184 R93* probably null Het
Skint7 T C 4: 111,982,178 V223A possibly damaging Het
Slc25a2 T C 18: 37,637,886 I197V probably benign Het
Slit2 A G 5: 48,217,474 T361A probably benign Het
Sugp1 G A 8: 70,070,126 G492D probably damaging Het
Svep1 C T 4: 58,145,301 G388D probably damaging Het
Tbpl2 G T 2: 24,093,876 A183E probably damaging Het
Tcerg1l G T 7: 138,229,890 P453T probably damaging Het
Tdpoz2 T C 3: 93,651,739 T309A probably benign Het
Tmem117 C A 15: 95,094,775 P439T probably damaging Het
Tmem151a A G 19: 5,082,965 V71A probably benign Het
Tmem268 G T 4: 63,568,454 probably benign Het
Tmem43 T A 6: 91,477,374 Y48N possibly damaging Het
Tmigd1 T C 11: 76,913,986 V217A probably benign Het
Tmprss11g A T 5: 86,497,329 probably benign Het
Tsn T C 1: 118,309,821 I38V probably benign Het
Ttc41 A T 10: 86,733,654 Y632F probably damaging Het
Vmn2r117 C T 17: 23,475,578 probably benign Het
Vmn2r12 A T 5: 109,090,485 I463N probably benign Het
Wdsub1 T A 2: 59,852,832 N466I probably damaging Het
Zdhhc21 A T 4: 82,844,190 I56N probably benign Het
Zfand4 A G 6: 116,273,656 T16A possibly damaging Het
Zmym4 T C 4: 126,948,475 E15G probably damaging 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
IGL03205:Thbs4 APN 13 92762774 missense probably damaging 1.00
IGL03382:Thbs4 APN 13 92769548 missense probably benign 0.37
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 intron 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
Posted On2015-12-18