Incidental Mutation 'R1659:Thsd7a'
ID 186585
Institutional Source Beutler Lab
Gene Symbol Thsd7a
Ensembl Gene ENSMUSG00000032625
Gene Name thrombospondin, type I, domain containing 7A
Synonyms LOC330267
MMRRC Submission 039695-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1659 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 12311607-12749252 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12504063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 364 (T364S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119581] [ENSMUST00000172356]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000046121
AA Change: T364S

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040176
Gene: ENSMUSG00000032625
AA Change: T364S

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 1.2e-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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119443
SMART Domains Protein: ENSMUSP00000113780
Gene: ENSMUSG00000032625

DomainStartEndE-ValueType
TSP1 14 70 9.98e-5 SMART
TSP1 77 161 3.14e0 SMART
TSP1 166 225 6.62e-1 SMART
Blast:TSP1 226 262 1e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000119581
AA Change: T364S

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113681
Gene: ENSMUSG00000032625
AA Change: T364S

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 probably benign
Transcript: ENSMUST00000172356
AA Change: T364S

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131662
Gene: ENSMUSG00000032625
AA Change: T364S

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T A 5: 4,114,633 (GRCm39) L87Q probably damaging Het
Atp13a5 T G 16: 29,112,251 (GRCm39) D630A probably benign Het
Brd7 G T 8: 89,060,420 (GRCm39) P568T probably damaging Het
Ccdc141 A G 2: 76,885,027 (GRCm39) L538P probably benign Het
Cd177 G T 7: 24,445,562 (GRCm39) T627K probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdhr2 T A 13: 54,867,574 (GRCm39) I468N probably damaging Het
Cdk14 T C 5: 4,999,571 (GRCm39) T338A probably benign Het
Celsr2 G A 3: 108,321,411 (GRCm39) T467I probably benign Het
Chrd A G 16: 20,554,581 (GRCm39) E380G probably damaging Het
Cnnm4 C A 1: 36,511,246 (GRCm39) T158N probably benign Het
Ddx51 T A 5: 110,802,986 (GRCm39) I254N probably damaging Het
Deptor G A 15: 55,081,670 (GRCm39) probably null Het
Dnah11 T A 12: 118,084,459 (GRCm39) H1215L possibly damaging Het
Dock1 A G 7: 134,390,972 (GRCm39) Y744C probably damaging Het
Dok7 C T 5: 35,236,483 (GRCm39) T257I possibly damaging Het
Eif4g1 T C 16: 20,499,811 (GRCm39) Y591H probably damaging Het
Fat3 T C 9: 15,908,479 (GRCm39) T2508A possibly damaging Het
Gm266 A G 12: 111,451,723 (GRCm39) V161A probably damaging Het
Golgb1 A G 16: 36,707,979 (GRCm39) I107V probably benign Het
Gpnmb T C 6: 49,024,786 (GRCm39) F273L probably damaging Het
Hcn1 A T 13: 118,112,610 (GRCm39) Q858L probably damaging Het
Hcrtr1 G T 4: 130,029,129 (GRCm39) Y224* probably null Het
Hepacam A G 9: 37,291,954 (GRCm39) D94G probably benign Het
Herc2 T A 7: 55,784,853 (GRCm39) H1432Q probably benign Het
Il20 T A 1: 130,836,086 (GRCm39) probably null Het
Itga10 A G 3: 96,570,293 (GRCm39) T1150A probably damaging Het
Itgax C T 7: 127,730,063 (GRCm39) T73I probably benign Het
Kdm6b T A 11: 69,298,414 (GRCm39) Q98L possibly damaging Het
Lrrc7 A G 3: 157,867,045 (GRCm39) W899R probably damaging Het
Meikin C A 11: 54,281,392 (GRCm39) S154* probably null Het
Mrgprg A T 7: 143,318,288 (GRCm39) S275T possibly damaging Het
Mstn C T 1: 53,103,236 (GRCm39) R191* probably null Het
Neu3 A G 7: 99,462,640 (GRCm39) I361T probably damaging Het
Nrxn3 A G 12: 90,299,165 (GRCm39) D425G probably damaging Het
Nup205 T A 6: 35,211,723 (GRCm39) M1688K probably benign Het
Omg C T 11: 79,393,726 (GRCm39) C44Y possibly damaging Het
Or1d2 A T 11: 74,255,759 (GRCm39) Q88L probably benign Het
Or52n3 A G 7: 104,530,387 (GRCm39) M158V probably benign Het
Pcdh8 T C 14: 80,005,574 (GRCm39) D938G probably damaging Het
Pp2d1 T C 17: 53,822,406 (GRCm39) D220G possibly damaging Het
Prune2 C T 19: 17,098,015 (GRCm39) T1173I possibly damaging Het
Rbfox3 T C 11: 118,384,981 (GRCm39) T359A probably damaging Het
Rhpn2 A G 7: 35,076,466 (GRCm39) Y339C probably damaging Het
Rpl7a-ps3 A G 15: 36,308,309 (GRCm39) noncoding transcript Het
Sars1 T C 3: 108,336,732 (GRCm39) E217G probably damaging Het
Sec61a2 A G 2: 5,891,345 (GRCm39) F62S possibly damaging Het
Slc12a7 T A 13: 73,938,790 (GRCm39) I189N probably damaging Het
Slc5a10 G A 11: 61,567,070 (GRCm39) A375V possibly damaging Het
Srfbp1 C T 18: 52,621,967 (GRCm39) H343Y possibly damaging Het
Tbck T G 3: 132,440,116 (GRCm39) I486M probably damaging Het
Thra G A 11: 98,647,805 (GRCm39) A60T probably damaging Het
Ttc16 C T 2: 32,652,547 (GRCm39) D761N probably benign Het
Vwa7 T C 17: 35,238,047 (GRCm39) L216P probably benign Het
Ydjc T C 16: 16,965,703 (GRCm39) V156A 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
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
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
Predicted Primers PCR Primer
(F):5'- GACATATGCAGCCTTCCCAGTCTC -3'
(R):5'- ATCCTGGAGTCTCTAATGGCCTGAG -3'

Sequencing Primer
(F):5'- GGACATGCCATTTGAGCAC -3'
(R):5'- TCTCTAATGGCCTGAGAGACTAAAG -3'
Posted On 2014-05-09