Incidental Mutation 'IGL02375:Thsd7a'
ID 291085
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thsd7a
Ensembl Gene ENSMUSG00000032625
Gene Name thrombospondin, type I, domain containing 7A
Synonyms LOC330267
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02375
Quality Score
Status
Chromosome 6
Chromosomal Location 12311607-12749252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12343264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1118 (C1118S)
Ref Sequence ENSEMBL: ENSMUSP00000131662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119581] [ENSMUST00000172356]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000119581
AA Change: C1118S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113681
Gene: ENSMUSG00000032625
AA Change: C1118S

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
TSP1 49 105 4.88e0 SMART
TSP1 186 236 1.58e-16 SMART
low complexity region 264 278 N/A INTRINSIC
low complexity region 290 304 N/A INTRINSIC
TSP1 352 408 9.98e-5 SMART
TSP1 415 499 3.14e0 SMART
TSP1 504 563 6.62e-1 SMART
TSP1 626 684 1.24e-9 SMART
TSP1 687 758 1.48e0 SMART
TSP1 763 820 6.24e-6 SMART
TSP1 898 948 7.31e-2 SMART
TSP1 1027 1082 9.09e-8 SMART
TSP1 1085 1150 5.82e-1 SMART
TSP1 1155 1207 4.24e-2 SMART
TSP1 1210 1271 1e0 SMART
TSP1 1276 1328 3.55e-10 SMART
TSP1 1329 1399 7.5e-2 SMART
TSP1 1404 1462 1.55e-1 SMART
transmembrane domain 1594 1616 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122369
SMART Domains Protein: ENSMUSP00000112503
Gene: ENSMUSG00000032625

DomainStartEndE-ValueType
TSP1 43 100 6.24e-6 SMART
TSP1 178 228 7.31e-2 SMART
Blast:TSP1 232 302 4e-26 BLAST
TSP1 307 362 9.09e-8 SMART
TSP1 365 430 5.82e-1 SMART
TSP1 435 487 4.24e-2 SMART
TSP1 490 551 1e0 SMART
TSP1 556 608 3.55e-10 SMART
TSP1 609 679 7.5e-2 SMART
TSP1 684 742 1.55e-1 SMART
transmembrane domain 874 896 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172356
AA Change: C1118S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131662
Gene: ENSMUSG00000032625
AA Change: C1118S

DomainStartEndE-ValueType
signal peptide 1 38 N/A INTRINSIC
TSP1 49 105 4.88e0 SMART
TSP1 186 236 1.58e-16 SMART
low complexity region 264 278 N/A INTRINSIC
low complexity region 290 304 N/A INTRINSIC
TSP1 352 408 9.98e-5 SMART
TSP1 415 499 3.14e0 SMART
TSP1 504 563 6.62e-1 SMART
TSP1 626 684 1.24e-9 SMART
TSP1 687 758 1.48e0 SMART
TSP1 763 820 6.24e-6 SMART
TSP1 898 948 7.31e-2 SMART
TSP1 1027 1084 1.95e-7 SMART
TSP1 1087 1152 5.82e-1 SMART
TSP1 1157 1209 4.24e-2 SMART
TSP1 1212 1273 1e0 SMART
TSP1 1278 1330 3.55e-10 SMART
TSP1 1331 1401 7.5e-2 SMART
TSP1 1406 1464 1.55e-1 SMART
transmembrane domain 1596 1618 N/A INTRINSIC
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 is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,813 (GRCm39) K76N possibly damaging Het
Agxt A G 1: 93,063,425 (GRCm39) E109G probably damaging Het
Alcam T C 16: 52,109,299 (GRCm39) T325A probably benign Het
Apol7c T C 15: 77,413,049 (GRCm39) E67G probably damaging Het
Bco1 C A 8: 117,840,178 (GRCm39) S232Y probably benign Het
Cacna1c A T 6: 118,652,884 (GRCm39) V763D probably damaging Het
Ccdc15 T C 9: 37,215,628 (GRCm39) D618G probably damaging Het
Cimip1 A G 2: 173,364,496 (GRCm39) M14V probably benign Het
Col6a5 T C 9: 105,783,312 (GRCm39) N1603S unknown Het
Cyp4v3 A G 8: 45,761,411 (GRCm39) probably null Het
Eml5 A T 12: 98,810,346 (GRCm39) V870E probably damaging Het
Epn2 A G 11: 61,410,497 (GRCm39) V512A probably damaging Het
Farp2 A G 1: 93,504,185 (GRCm39) R321G probably damaging Het
Garin3 G T 11: 46,297,379 (GRCm39) V228L probably damaging Het
Gprasp1 T C X: 134,701,552 (GRCm39) S582P probably damaging Het
Grhl2 T C 15: 37,291,821 (GRCm39) V303A probably damaging Het
Grik1 A T 16: 87,743,444 (GRCm39) F594L probably damaging Het
Hivep1 A G 13: 42,309,925 (GRCm39) K722E probably benign Het
Htr5b G A 1: 121,455,564 (GRCm39) R119C probably damaging Het
Ifit2 T C 19: 34,551,737 (GRCm39) S426P probably benign Het
Kif13a T C 13: 46,978,698 (GRCm39) Y234C probably damaging Het
Mios T A 6: 8,222,598 (GRCm39) F511I probably benign Het
Mtfmt T C 9: 65,346,849 (GRCm39) W148R probably damaging Het
Myo1c C A 11: 75,552,400 (GRCm39) T391N probably benign Het
Nlrp1a A T 11: 71,004,339 (GRCm39) L710* probably null Het
Nlrp1b A G 11: 71,052,506 (GRCm39) I971T probably damaging Het
Nup43 A G 10: 7,549,358 (GRCm39) D171G probably damaging Het
Or5b12b A G 19: 12,861,305 (GRCm39) E20G probably benign Het
P2rx7 T C 5: 122,811,719 (GRCm39) probably benign Het
Pgap6 T A 17: 26,338,473 (GRCm39) Y512N probably benign Het
Poli C T 18: 70,656,363 (GRCm39) G155R probably damaging Het
Rad9b T C 5: 122,471,405 (GRCm39) S220G possibly damaging Het
Rgn C T X: 20,416,700 (GRCm39) S28L probably damaging Het
Tcp11l2 G A 10: 84,440,932 (GRCm39) probably null Het
Tenm4 G A 7: 96,353,344 (GRCm39) V379I possibly damaging Het
Trpm7 A G 2: 126,667,664 (GRCm39) Y776H probably damaging Het
Trpv4 T C 5: 114,774,418 (GRCm39) N222S probably benign Het
Tut1 C T 19: 8,941,403 (GRCm39) R397C probably damaging Het
Vmn1r72 T A 7: 11,403,672 (GRCm39) T259S probably benign Het
Wdr17 A G 8: 55,149,423 (GRCm39) S2P possibly damaging Het
Other mutations in Thsd7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Thsd7a APN 6 12,379,658 (GRCm39) splice site probably null
IGL00563:Thsd7a APN 6 12,379,658 (GRCm39) splice site probably null
IGL00753:Thsd7a APN 6 12,327,528 (GRCm39) missense probably damaging 1.00
IGL00835:Thsd7a APN 6 12,554,933 (GRCm39) missense probably damaging 1.00
IGL01486:Thsd7a APN 6 12,471,079 (GRCm39) missense probably damaging 1.00
IGL01730:Thsd7a APN 6 12,554,980 (GRCm39) missense probably benign 0.05
IGL01931:Thsd7a APN 6 12,504,098 (GRCm39) missense probably damaging 1.00
IGL01935:Thsd7a APN 6 12,317,418 (GRCm39) missense probably damaging 1.00
IGL01978:Thsd7a APN 6 12,331,005 (GRCm39) missense probably benign 0.01
IGL02233:Thsd7a APN 6 12,555,257 (GRCm39) missense probably benign 0.00
IGL02354:Thsd7a APN 6 12,348,192 (GRCm39) splice site probably benign
IGL02361:Thsd7a APN 6 12,348,192 (GRCm39) splice site probably benign
IGL02468:Thsd7a APN 6 12,318,170 (GRCm39) missense probably damaging 0.98
IGL02616:Thsd7a APN 6 12,408,984 (GRCm39) missense probably damaging 0.98
IGL02820:Thsd7a APN 6 12,321,071 (GRCm39) missense probably damaging 1.00
IGL02858:Thsd7a APN 6 12,500,994 (GRCm39) missense probably benign 0.16
IGL03074:Thsd7a APN 6 12,324,680 (GRCm39) missense probably damaging 0.99
IGL03234:Thsd7a APN 6 12,343,177 (GRCm39) missense probably damaging 1.00
IGL03244:Thsd7a APN 6 12,504,167 (GRCm39) splice site probably benign
IGL03337:Thsd7a APN 6 12,405,173 (GRCm39) missense probably damaging 1.00
G1patch:Thsd7a UTSW 6 12,555,630 (GRCm39) missense possibly damaging 0.87
PIT4354001:Thsd7a UTSW 6 12,331,926 (GRCm39) critical splice donor site probably null
R0095:Thsd7a UTSW 6 12,320,969 (GRCm39) missense probably damaging 0.99
R0127:Thsd7a UTSW 6 12,554,907 (GRCm39) missense probably benign 0.01
R0142:Thsd7a UTSW 6 12,418,334 (GRCm39) missense probably damaging 1.00
R0226:Thsd7a UTSW 6 12,321,899 (GRCm39) missense possibly damaging 0.94
R0242:Thsd7a UTSW 6 12,503,915 (GRCm39) missense probably benign 0.32
R0242:Thsd7a UTSW 6 12,503,915 (GRCm39) missense probably benign 0.32
R0359:Thsd7a UTSW 6 12,352,030 (GRCm39) missense probably damaging 1.00
R0365:Thsd7a UTSW 6 12,321,886 (GRCm39) critical splice donor site probably null
R0504:Thsd7a UTSW 6 12,379,593 (GRCm39) missense probably damaging 0.99
R0512:Thsd7a UTSW 6 12,379,604 (GRCm39) missense possibly damaging 0.67
R0540:Thsd7a UTSW 6 12,331,541 (GRCm39) splice site probably null
R0577:Thsd7a UTSW 6 12,321,047 (GRCm39) missense possibly damaging 0.50
R0607:Thsd7a UTSW 6 12,331,541 (GRCm39) splice site probably null
R0755:Thsd7a UTSW 6 12,555,368 (GRCm39) missense probably damaging 1.00
R0771:Thsd7a UTSW 6 12,327,576 (GRCm39) missense probably benign 0.09
R0780:Thsd7a UTSW 6 12,337,273 (GRCm39) missense probably damaging 1.00
R0870:Thsd7a UTSW 6 12,337,273 (GRCm39) missense probably damaging 1.00
R0871:Thsd7a UTSW 6 12,337,273 (GRCm39) missense probably damaging 1.00
R0872:Thsd7a UTSW 6 12,337,273 (GRCm39) missense probably damaging 1.00
R0873:Thsd7a UTSW 6 12,337,273 (GRCm39) missense probably damaging 1.00
R1102:Thsd7a UTSW 6 12,555,701 (GRCm39) missense possibly damaging 0.58
R1144:Thsd7a UTSW 6 12,471,026 (GRCm39) splice site probably benign
R1265:Thsd7a UTSW 6 12,317,418 (GRCm39) missense probably damaging 0.99
R1276:Thsd7a UTSW 6 12,418,369 (GRCm39) missense probably damaging 1.00
R1381:Thsd7a UTSW 6 12,555,438 (GRCm39) missense probably damaging 1.00
R1473:Thsd7a UTSW 6 12,338,621 (GRCm39) missense probably benign 0.08
R1519:Thsd7a UTSW 6 12,471,174 (GRCm39) missense probably benign 0.01
R1633:Thsd7a UTSW 6 12,471,103 (GRCm39) nonsense probably null
R1659:Thsd7a UTSW 6 12,504,063 (GRCm39) missense possibly damaging 0.73
R1769:Thsd7a UTSW 6 12,555,714 (GRCm39) nonsense probably null
R1824:Thsd7a UTSW 6 12,409,041 (GRCm39) splice site probably null
R1840:Thsd7a UTSW 6 12,330,973 (GRCm39) missense probably benign 0.03
R1845:Thsd7a UTSW 6 12,321,040 (GRCm39) missense probably damaging 1.00
R1874:Thsd7a UTSW 6 12,555,434 (GRCm39) missense possibly damaging 0.76
R2023:Thsd7a UTSW 6 12,327,535 (GRCm39) missense probably benign 0.16
R2039:Thsd7a UTSW 6 12,408,922 (GRCm39) missense possibly damaging 0.77
R2058:Thsd7a UTSW 6 12,318,105 (GRCm39) splice site probably benign
R2138:Thsd7a UTSW 6 12,471,072 (GRCm39) nonsense probably null
R2155:Thsd7a UTSW 6 12,379,632 (GRCm39) missense probably damaging 1.00
R2175:Thsd7a UTSW 6 12,331,943 (GRCm39) missense possibly damaging 0.95
R2216:Thsd7a UTSW 6 12,337,267 (GRCm39) missense possibly damaging 0.95
R2318:Thsd7a UTSW 6 12,405,146 (GRCm39) missense probably damaging 1.00
R2375:Thsd7a UTSW 6 12,337,361 (GRCm39) missense probably damaging 1.00
R3857:Thsd7a UTSW 6 12,555,225 (GRCm39) missense probably benign 0.15
R3858:Thsd7a UTSW 6 12,555,225 (GRCm39) missense probably benign 0.15
R3890:Thsd7a UTSW 6 12,418,336 (GRCm39) missense probably benign 0.09
R3910:Thsd7a UTSW 6 12,331,548 (GRCm39) missense probably damaging 0.96
R3933:Thsd7a UTSW 6 12,555,225 (GRCm39) missense probably benign 0.15
R4369:Thsd7a UTSW 6 12,468,907 (GRCm39) missense probably damaging 1.00
R4447:Thsd7a UTSW 6 12,324,634 (GRCm39) missense probably damaging 0.98
R4664:Thsd7a UTSW 6 12,504,012 (GRCm39) missense possibly damaging 0.90
R4664:Thsd7a UTSW 6 12,337,313 (GRCm39) missense possibly damaging 0.79
R4665:Thsd7a UTSW 6 12,504,012 (GRCm39) missense possibly damaging 0.90
R4665:Thsd7a UTSW 6 12,337,313 (GRCm39) missense possibly damaging 0.79
R4666:Thsd7a UTSW 6 12,504,012 (GRCm39) missense possibly damaging 0.90
R4666:Thsd7a UTSW 6 12,337,313 (GRCm39) missense possibly damaging 0.79
R4668:Thsd7a UTSW 6 12,408,967 (GRCm39) missense probably damaging 0.98
R4886:Thsd7a UTSW 6 12,327,659 (GRCm39) nonsense probably null
R4918:Thsd7a UTSW 6 12,327,558 (GRCm39) missense probably damaging 1.00
R4938:Thsd7a UTSW 6 12,330,991 (GRCm39) missense probably benign 0.09
R5064:Thsd7a UTSW 6 12,330,951 (GRCm39) missense possibly damaging 0.66
R5153:Thsd7a UTSW 6 12,338,654 (GRCm39) missense probably benign 0.00
R5177:Thsd7a UTSW 6 12,379,582 (GRCm39) nonsense probably null
R5242:Thsd7a UTSW 6 12,327,582 (GRCm39) missense probably damaging 1.00
R5267:Thsd7a UTSW 6 12,379,601 (GRCm39) missense probably damaging 1.00
R5442:Thsd7a UTSW 6 12,748,799 (GRCm39) missense probably benign 0.00
R5506:Thsd7a UTSW 6 12,332,016 (GRCm39) missense possibly damaging 0.85
R5525:Thsd7a UTSW 6 12,332,006 (GRCm39) missense possibly damaging 0.52
R5544:Thsd7a UTSW 6 12,379,470 (GRCm39) missense possibly damaging 0.94
R5651:Thsd7a UTSW 6 12,343,212 (GRCm39) missense probably damaging 1.00
R5716:Thsd7a UTSW 6 12,343,147 (GRCm39) missense probably benign 0.00
R5848:Thsd7a UTSW 6 12,503,922 (GRCm39) missense probably damaging 1.00
R5958:Thsd7a UTSW 6 12,337,261 (GRCm39) missense probably benign 0.02
R6012:Thsd7a UTSW 6 12,379,388 (GRCm39) splice site probably null
R6139:Thsd7a UTSW 6 12,379,572 (GRCm39) missense possibly damaging 0.93
R6243:Thsd7a UTSW 6 12,327,601 (GRCm39) missense probably damaging 1.00
R6257:Thsd7a UTSW 6 12,408,987 (GRCm39) nonsense probably null
R6273:Thsd7a UTSW 6 12,408,835 (GRCm39) missense probably damaging 0.99
R6300:Thsd7a UTSW 6 12,471,103 (GRCm39) nonsense probably null
R6314:Thsd7a UTSW 6 12,554,996 (GRCm39) missense possibly damaging 0.87
R6392:Thsd7a UTSW 6 12,468,928 (GRCm39) missense probably damaging 0.99
R6418:Thsd7a UTSW 6 12,555,081 (GRCm39) nonsense probably null
R6515:Thsd7a UTSW 6 12,501,085 (GRCm39) missense possibly damaging 0.47
R6725:Thsd7a UTSW 6 12,555,630 (GRCm39) missense possibly damaging 0.87
R6742:Thsd7a UTSW 6 12,408,815 (GRCm39) missense probably damaging 1.00
R6776:Thsd7a UTSW 6 12,555,636 (GRCm39) missense possibly damaging 0.53
R6838:Thsd7a UTSW 6 12,504,074 (GRCm39) missense probably damaging 0.99
R7104:Thsd7a UTSW 6 12,379,429 (GRCm39) missense
R7170:Thsd7a UTSW 6 12,352,090 (GRCm39) missense
R7349:Thsd7a UTSW 6 12,352,067 (GRCm39) missense
R7460:Thsd7a UTSW 6 12,554,933 (GRCm39) missense
R7467:Thsd7a UTSW 6 12,331,584 (GRCm39) missense
R7666:Thsd7a UTSW 6 12,379,437 (GRCm39) missense
R7869:Thsd7a UTSW 6 12,471,123 (GRCm39) nonsense probably null
R8032:Thsd7a UTSW 6 12,555,287 (GRCm39) missense
R8165:Thsd7a UTSW 6 12,468,962 (GRCm39) missense
R8167:Thsd7a UTSW 6 12,317,400 (GRCm39) nonsense probably null
R8245:Thsd7a UTSW 6 12,379,592 (GRCm39) missense
R8310:Thsd7a UTSW 6 12,396,612 (GRCm39) missense
R8312:Thsd7a UTSW 6 12,471,181 (GRCm39) missense
R8331:Thsd7a UTSW 6 12,471,157 (GRCm39) missense
R8755:Thsd7a UTSW 6 12,408,851 (GRCm39) nonsense probably null
R8843:Thsd7a UTSW 6 12,501,136 (GRCm39) missense
R8867:Thsd7a UTSW 6 12,338,686 (GRCm39) missense
R8952:Thsd7a UTSW 6 12,468,992 (GRCm39) missense probably damaging 0.98
R9036:Thsd7a UTSW 6 12,418,249 (GRCm39) missense
R9299:Thsd7a UTSW 6 12,504,131 (GRCm39) missense
R9366:Thsd7a UTSW 6 12,555,480 (GRCm39) missense
R9489:Thsd7a UTSW 6 12,352,022 (GRCm39) missense
Posted On 2015-04-16