Incidental Mutation 'R6257:Thsd7a'
ID 506385
Institutional Source Beutler Lab
Gene Symbol Thsd7a
Ensembl Gene ENSMUSG00000032625
Gene Name thrombospondin, type I, domain containing 7A
Synonyms LOC330267
MMRRC Submission 044374-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6257 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 12311607-12749252 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 12408987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 678 (C678*)
Ref Sequence ENSEMBL: ENSMUSP00000131662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119581] [ENSMUST00000172356]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000119581
AA Change: C678*
SMART Domains Protein: ENSMUSP00000113681
Gene: ENSMUSG00000032625
AA Change: C678*

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 null
Transcript: ENSMUST00000172356
AA Change: C678*
SMART Domains Protein: ENSMUSP00000131662
Gene: ENSMUSG00000032625
AA Change: C678*

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
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency 97% (74/76)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A T 17: 36,272,074 (GRCm39) N313K probably benign Het
Adamts2 T C 11: 50,666,153 (GRCm39) V383A probably damaging Het
Adamts6 A T 13: 104,598,790 (GRCm39) Q877L probably benign Het
Adgre4 C T 17: 56,109,133 (GRCm39) T380I possibly damaging Het
Aspm A G 1: 139,409,791 (GRCm39) probably null Het
Atg16l2 A G 7: 100,951,102 (GRCm39) probably null Het
Bcl6b C T 11: 70,116,878 (GRCm39) R467H probably benign Het
Cacna2d4 G A 6: 119,258,580 (GRCm39) probably null Het
Casp8ap2 A G 4: 32,641,364 (GRCm39) D806G possibly damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Ccser1 A G 6: 61,350,946 (GRCm39) D501G probably damaging Het
Ccser1 A G 6: 62,356,769 (GRCm39) T736A probably benign Het
Cd164l2 T A 4: 132,948,345 (GRCm39) C19S unknown Het
Cdk15 G A 1: 59,296,264 (GRCm39) probably null Het
Cebpz T C 17: 79,243,261 (GRCm39) E131G probably benign Het
Ces1d T C 8: 93,893,025 (GRCm39) D519G probably benign Het
Cftr A C 6: 18,282,500 (GRCm39) T1067P probably benign Het
Chd1 T G 17: 15,950,465 (GRCm39) probably null Het
Chil4 T A 3: 106,111,412 (GRCm39) D234V possibly damaging Het
Cldn16 T A 16: 26,300,080 (GRCm39) S173T probably damaging Het
Cpd A T 11: 76,703,496 (GRCm39) F456I probably benign Het
Cst8 C A 2: 148,647,365 (GRCm39) A125E probably damaging Het
Dars2 G T 1: 160,869,398 (GRCm39) P617Q probably damaging Het
Defb26 A G 2: 152,349,860 (GRCm39) V140A unknown Het
Dntt T G 19: 41,041,501 (GRCm39) V395G probably damaging Het
Dock10 G A 1: 80,481,413 (GRCm39) probably benign Het
Dscam T C 16: 96,474,914 (GRCm39) N1216S possibly damaging Het
En1 A T 1: 120,531,636 (GRCm39) D292V unknown Het
Erbb4 A T 1: 68,435,432 (GRCm39) L155Q probably damaging Het
Erbin T C 13: 103,998,796 (GRCm39) T197A probably benign Het
Fat2 A G 11: 55,153,407 (GRCm39) F3602L probably benign Het
Fcsk A T 8: 111,617,177 (GRCm39) C365S probably benign Het
Gm3443 A T 19: 21,533,075 (GRCm39) D13V unknown Het
Gm6401 T C 14: 41,789,828 (GRCm39) Q10R probably benign Het
Gmcl1 G A 6: 86,677,623 (GRCm39) T410I possibly damaging Het
Grid2ip G A 5: 143,366,184 (GRCm39) S379N probably damaging Het
H2-T24 T A 17: 36,325,574 (GRCm39) T305S probably benign Het
Ksr2 A T 5: 117,552,909 (GRCm39) M6L probably benign Het
Lama2 A G 10: 26,862,895 (GRCm39) L2956S possibly damaging Het
Lhfpl3 A G 5: 22,951,557 (GRCm39) T123A probably benign Het
Lrp1b T A 2: 40,486,981 (GRCm39) probably null Het
Ltn1 G A 16: 87,208,662 (GRCm39) A812V possibly damaging Het
Maml2 C T 9: 13,531,722 (GRCm39) S312L probably damaging Het
Myo7b T A 18: 32,146,468 (GRCm39) N106Y probably damaging Het
Nacc2 A T 2: 25,950,420 (GRCm39) C439S probably damaging Het
Ncoa7 A G 10: 30,570,173 (GRCm39) I224T probably damaging Het
Nf1 A T 11: 79,440,317 (GRCm39) L2303F probably damaging Het
Noc3l A T 19: 38,784,349 (GRCm39) probably null Het
Nup155 C T 15: 8,180,282 (GRCm39) R1120* probably null Het
Oas3 C A 5: 120,899,200 (GRCm39) probably benign Het
Ocln T C 13: 100,676,017 (GRCm39) I159V probably benign Het
Or1p1c T C 11: 74,160,833 (GRCm39) V206A probably damaging Het
Or2t45 T A 11: 58,669,829 (GRCm39) V292E probably damaging Het
Os9 A C 10: 126,955,006 (GRCm39) C181G probably damaging Het
Phldb1 C T 9: 44,607,437 (GRCm39) R1256Q probably damaging Het
Pkd1l1 G A 11: 8,892,195 (GRCm39) T208I probably benign Het
Plppr4 T C 3: 117,116,228 (GRCm39) Q485R possibly damaging Het
Prkcb T A 7: 122,167,386 (GRCm39) D365E probably benign Het
Ptprz1 T A 6: 22,959,639 (GRCm39) N45K probably damaging Het
Rbl2 T C 8: 91,842,306 (GRCm39) L987P probably damaging Het
Runx1 T A 16: 92,492,799 (GRCm39) probably benign Het
Septin4 C A 11: 87,481,175 (GRCm39) Q372K probably benign Het
Slc24a4 A G 12: 102,220,769 (GRCm39) E400G probably benign Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Sri T A 5: 8,109,596 (GRCm39) probably null Het
St3gal3 C T 4: 117,964,875 (GRCm39) probably benign Het
Tfpt A T 7: 3,632,566 (GRCm39) L3* probably null Het
Tgfb3 T C 12: 86,124,615 (GRCm39) D31G possibly damaging Het
Tmbim1 A G 1: 74,332,225 (GRCm39) Y101H probably damaging Het
Tmem17 A G 11: 22,462,297 (GRCm39) probably benign Het
Tmprss15 A T 16: 78,769,113 (GRCm39) V769E probably damaging Het
Trak1 C T 9: 121,275,821 (GRCm39) R175C probably damaging Het
Trak1 G T 9: 121,196,290 (GRCm39) V41F possibly damaging Het
Trim30c T C 7: 104,039,375 (GRCm39) Y140C probably damaging Het
Tubgcp3 A T 8: 12,699,835 (GRCm39) probably null Het
Ubr7 T A 12: 102,732,099 (GRCm39) C158* probably null Het
Vmn2r79 A T 7: 86,651,778 (GRCm39) L392F probably benign Het
Zfp536 T A 7: 37,179,830 (GRCm39) D925V probably 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
IGL02375:Thsd7a APN 6 12,343,264 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTGGCTAACCGCAAGATTTACC -3'
(R):5'- CTATGGGCCTACTGAGTGGTAATC -3'

Sequencing Primer
(F):5'- ACCGCAAGATTTACCACTGTCATTC -3'
(R):5'- GGTAATCGTCATTGTTATCAGCC -3'
Posted On 2018-03-15