Incidental Mutation 'IGL02874:Thsd4'
ID 362636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thsd4
Ensembl Gene ENSMUSG00000032289
Gene Name thrombospondin, type I, domain containing 4
Synonyms B230114P05Rik, ADAMTSL6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL02874
Quality Score
Status
Chromosome 9
Chromosomal Location 59874214-60429329 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 60160013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 358 (V358I)
Ref Sequence ENSEMBL: ENSMUSP00000131418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098660] [ENSMUST00000171654]
AlphaFold Q3UTY6
Predicted Effect probably damaging
Transcript: ENSMUST00000098660
AA Change: V358I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: V358I

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
TSP1 57 100 7.9e-2 SMART
low complexity region 160 175 N/A INTRINSIC
low complexity region 187 202 N/A INTRINSIC
Pfam:ADAM_spacer1 412 528 1.5e-39 PFAM
low complexity region 549 565 N/A INTRINSIC
TSP1 621 677 1.51e-1 SMART
TSP1 679 737 8.11e-5 SMART
TSP1 739 794 7.92e-8 SMART
TSP1 796 851 1.6e-3 SMART
TSP1 855 913 4.82e-2 SMART
TSP1 916 968 1.03e-6 SMART
Pfam:PLAC 974 1006 4.2e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171654
AA Change: V358I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: V358I

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
TSP1 57 100 7.9e-2 SMART
low complexity region 160 175 N/A INTRINSIC
low complexity region 187 202 N/A INTRINSIC
Pfam:ADAM_spacer1 412 528 5.4e-40 PFAM
low complexity region 549 565 N/A INTRINSIC
TSP1 621 677 1.51e-1 SMART
TSP1 679 737 8.11e-5 SMART
TSP1 739 794 7.92e-8 SMART
TSP1 796 851 1.6e-3 SMART
TSP1 855 913 4.82e-2 SMART
TSP1 916 968 1.03e-6 SMART
Pfam:PLAC 975 1005 1.3e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a2 A G 14: 60,039,701 (GRCm39) Y876H probably damaging Het
Cfap65 G A 1: 74,950,267 (GRCm39) Q1161* probably null Het
Chrd C T 16: 20,553,946 (GRCm39) T282I probably damaging Het
Clasp1 T C 1: 118,479,773 (GRCm39) S749P possibly damaging Het
Clec4a3 T A 6: 122,944,519 (GRCm39) N188K probably benign Het
Dmpk A G 7: 18,820,926 (GRCm39) M181V possibly damaging Het
Dnah7a A T 1: 53,644,973 (GRCm39) M1021K possibly damaging Het
Exoc5 A T 14: 49,288,903 (GRCm39) N48K probably benign Het
Golga1 A G 2: 38,929,104 (GRCm39) L338P probably damaging Het
Hdc T A 2: 126,443,596 (GRCm39) T334S probably benign Het
Idh2 A G 7: 79,747,621 (GRCm39) S300P probably damaging Het
Igkv4-78 T C 6: 69,037,190 (GRCm39) I7V probably benign Het
Impdh1 A T 6: 29,203,155 (GRCm39) M389K probably damaging Het
Kcnd2 T A 6: 21,216,922 (GRCm39) C209S probably damaging Het
Or11g25 G T 14: 50,723,686 (GRCm39) C257F possibly damaging Het
Or4q3 A T 14: 50,583,583 (GRCm39) H105Q probably damaging Het
Or56b2 C A 7: 104,337,230 (GRCm39) Q3K probably benign Het
Ovol1 T C 19: 5,601,209 (GRCm39) K194R probably damaging Het
Pcdh17 A T 14: 84,685,680 (GRCm39) I716F possibly damaging Het
Pck1 T C 2: 172,997,042 (GRCm39) I228T probably damaging Het
Pla2g2a T C 4: 138,562,159 (GRCm39) F132L probably benign Het
Prex1 A G 2: 166,426,967 (GRCm39) V1086A probably damaging Het
Rasd2 T C 8: 75,945,327 (GRCm39) I52T probably damaging Het
Robo1 T C 16: 72,809,806 (GRCm39) Y1185H probably damaging Het
Sema6c T G 3: 95,077,688 (GRCm39) V441G probably damaging Het
Slc9a4 A T 1: 40,623,198 (GRCm39) M146L probably benign Het
Ttbk1 T C 17: 46,781,151 (GRCm39) E474G probably benign Het
Ttbk2 T A 2: 120,576,193 (GRCm39) D928V probably damaging Het
Ttn C T 2: 76,641,522 (GRCm39) G11779S probably damaging Het
Wfdc6b T C 2: 164,459,368 (GRCm39) probably null Het
Other mutations in Thsd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02206:Thsd4 APN 9 60,301,398 (GRCm39) missense probably benign 0.22
IGL02418:Thsd4 APN 9 60,335,598 (GRCm39) missense probably damaging 0.99
IGL02491:Thsd4 APN 9 59,907,301 (GRCm39) missense probably damaging 0.99
IGL02754:Thsd4 APN 9 59,896,380 (GRCm39) splice site probably benign
IGL02978:Thsd4 APN 9 59,964,129 (GRCm39) splice site probably null
IGL03139:Thsd4 APN 9 59,904,456 (GRCm39) missense probably benign 0.01
R0266:Thsd4 UTSW 9 59,904,417 (GRCm39) missense probably benign 0.07
R0482:Thsd4 UTSW 9 59,910,261 (GRCm39) missense probably damaging 1.00
R1188:Thsd4 UTSW 9 60,301,689 (GRCm39) missense probably benign 0.12
R1447:Thsd4 UTSW 9 59,904,496 (GRCm39) missense probably benign
R1572:Thsd4 UTSW 9 60,301,836 (GRCm39) splice site probably benign
R1812:Thsd4 UTSW 9 59,964,220 (GRCm39) missense probably damaging 1.00
R2349:Thsd4 UTSW 9 59,879,798 (GRCm39) missense probably benign 0.05
R3236:Thsd4 UTSW 9 60,301,670 (GRCm39) missense probably benign
R4088:Thsd4 UTSW 9 59,904,505 (GRCm39) missense probably benign 0.02
R4884:Thsd4 UTSW 9 59,895,320 (GRCm39) missense probably benign 0.43
R4886:Thsd4 UTSW 9 59,896,313 (GRCm39) missense probably benign 0.00
R5066:Thsd4 UTSW 9 59,883,615 (GRCm39) missense probably damaging 1.00
R5223:Thsd4 UTSW 9 59,964,325 (GRCm39) missense probably damaging 1.00
R5441:Thsd4 UTSW 9 59,887,066 (GRCm39) missense probably damaging 1.00
R5457:Thsd4 UTSW 9 59,887,060 (GRCm39) missense probably damaging 1.00
R5574:Thsd4 UTSW 9 59,879,683 (GRCm39) missense probably damaging 1.00
R5581:Thsd4 UTSW 9 59,879,741 (GRCm39) missense possibly damaging 0.90
R5903:Thsd4 UTSW 9 60,301,389 (GRCm39) missense possibly damaging 0.47
R6220:Thsd4 UTSW 9 59,890,030 (GRCm39) missense probably damaging 1.00
R6728:Thsd4 UTSW 9 59,904,480 (GRCm39) missense probably benign
R7102:Thsd4 UTSW 9 59,883,587 (GRCm39) missense probably damaging 1.00
R7316:Thsd4 UTSW 9 59,894,642 (GRCm39) missense probably benign 0.00
R7403:Thsd4 UTSW 9 59,964,170 (GRCm39) missense probably damaging 0.99
R7638:Thsd4 UTSW 9 60,301,755 (GRCm39) missense probably damaging 1.00
R7671:Thsd4 UTSW 9 60,335,457 (GRCm39) missense probably benign
R7856:Thsd4 UTSW 9 59,910,144 (GRCm39) missense probably damaging 1.00
R8671:Thsd4 UTSW 9 60,301,728 (GRCm39) missense probably damaging 0.98
R9104:Thsd4 UTSW 9 59,964,179 (GRCm39) missense possibly damaging 0.95
R9182:Thsd4 UTSW 9 59,894,649 (GRCm39) missense probably benign 0.00
R9252:Thsd4 UTSW 9 59,964,230 (GRCm39) missense probably benign 0.04
R9663:Thsd4 UTSW 9 59,890,026 (GRCm39) missense probably damaging 1.00
Z1177:Thsd4 UTSW 9 59,895,377 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18