Incidental Mutation 'R2209:Thsd1'
ID 239255
Institutional Source Beutler Lab
Gene Symbol Thsd1
Ensembl Gene ENSMUSG00000031480
Gene Name thrombospondin, type I, domain 1
Synonyms 4833423O18Rik, Tmtsp
MMRRC Submission 040211-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2209 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 22717329-22751350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22748887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 525 (I525N)
Ref Sequence ENSEMBL: ENSMUSP00000148214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069828] [ENSMUST00000160585] [ENSMUST00000162447]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000069828
AA Change: I586N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067701
Gene: ENSMUSG00000031480
AA Change: I586N

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
TSP1 342 392 4.55e-8 SMART
low complexity region 396 408 N/A INTRINSIC
transmembrane domain 413 435 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000160585
AA Change: I533N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125118
Gene: ENSMUSG00000031480
AA Change: I533N

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 343 355 N/A INTRINSIC
transmembrane domain 360 382 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162447
AA Change: I525N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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 contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,884,227 (GRCm39) E330G possibly damaging Het
Apob A C 12: 8,057,752 (GRCm39) D2078A probably benign Het
Arhgap21 T A 2: 20,854,331 (GRCm39) Q1681L probably damaging Het
Arsb A G 13: 93,998,609 (GRCm39) T306A probably benign Het
Brpf3 G A 17: 29,047,394 (GRCm39) D1053N probably damaging Het
Cenpf A T 1: 189,384,795 (GRCm39) I2495N probably benign Het
Col12a1 T C 9: 79,599,634 (GRCm39) K840E possibly damaging Het
Cry1 A G 10: 84,982,619 (GRCm39) L269P probably damaging Het
Cyp21a1 C A 17: 35,021,701 (GRCm39) E289* probably null Het
Dcp2 A T 18: 44,538,581 (GRCm39) K215* probably null Het
Dnaaf11 A G 15: 66,321,400 (GRCm39) I247T probably benign Het
Ecm2 A G 13: 49,683,632 (GRCm39) N537D probably damaging Het
Emid1 G A 11: 5,085,407 (GRCm39) T113M probably benign Het
Exoc8 C T 8: 125,622,918 (GRCm39) W483* probably null Het
Fes A T 7: 80,030,031 (GRCm39) N582K probably damaging Het
Flnb G T 14: 7,905,507 (GRCm38) E1086* probably null Het
Flnc T A 6: 29,455,844 (GRCm39) D2058E possibly damaging Het
Gatb G A 3: 85,561,112 (GRCm39) D543N probably benign Het
Gm14412 A G 2: 177,009,229 (GRCm39) V9A probably damaging Het
Gm4884 T C 7: 40,692,745 (GRCm39) V238A possibly damaging Het
Igfbp5 A G 1: 72,913,096 (GRCm39) V68A possibly damaging Het
Igflr1 T A 7: 30,267,222 (GRCm39) I330N probably damaging Het
Il1r2 A G 1: 40,154,298 (GRCm39) T222A probably benign Het
Krt87 T C 15: 101,330,989 (GRCm39) E419G probably benign Het
Lman2 A G 13: 55,499,315 (GRCm39) S187P probably damaging Het
Mrpl38 T C 11: 116,029,288 (GRCm39) E76G possibly damaging Het
Mtx3 A G 13: 92,984,112 (GRCm39) I130V probably benign Het
Naf1 T G 8: 67,313,188 (GRCm39) probably benign Het
Nkx2-1 T G 12: 56,580,293 (GRCm39) M216L probably benign Het
Notch1 C A 2: 26,350,019 (GRCm39) V2374L probably benign Het
Nrxn2 A G 19: 6,543,037 (GRCm39) D1087G probably benign Het
Nudt8 T C 19: 4,051,902 (GRCm39) F171S probably damaging Het
Or5an1 T G 19: 12,261,224 (GRCm39) F271V probably benign Het
Pds5a A T 5: 65,785,357 (GRCm39) C916* probably null Het
Phyhip A T 14: 70,699,334 (GRCm39) N46Y probably damaging Het
Pomt1 A G 2: 32,140,874 (GRCm39) Y502C possibly damaging Het
Prkcg A C 7: 3,352,097 (GRCm39) probably benign Het
Prl8a6 C T 13: 27,619,369 (GRCm39) E118K probably benign Het
Prpf39 T C 12: 65,104,689 (GRCm39) probably null Het
Ptprb A G 10: 116,205,262 (GRCm39) H2159R probably damaging Het
Ripor2 A T 13: 24,885,595 (GRCm39) D571V probably damaging Het
Rps19 C T 7: 24,584,552 (GRCm39) L34F probably benign Het
Rusc1 A G 3: 88,996,128 (GRCm39) S145P probably damaging Het
Scn4a T A 11: 106,230,051 (GRCm39) T586S probably damaging Het
Slc7a12 A G 3: 14,546,124 (GRCm39) S90G possibly damaging Het
Specc1l A G 10: 75,082,410 (GRCm39) D619G probably damaging Het
Src A G 2: 157,304,710 (GRCm39) D143G probably benign Het
Sst T C 16: 23,708,558 (GRCm39) N91S probably benign Het
Stxbp5l T A 16: 37,036,398 (GRCm39) I406F probably damaging Het
Ticam2 A T 18: 46,693,467 (GRCm39) F207I probably damaging Het
Tsc22d1 C A 14: 76,656,180 (GRCm39) N31K probably damaging Het
Tspan10 T C 11: 120,336,989 (GRCm39) V253A probably benign Het
Ttc33 A G 15: 5,237,924 (GRCm39) K99R possibly damaging Het
Vmn1r63 T A 7: 5,806,212 (GRCm39) N140I probably damaging Het
Yju2b C T 8: 84,990,498 (GRCm39) V45I probably benign Het
Zbtb25 A G 12: 76,395,903 (GRCm39) *440Q probably null Het
Zfhx4 T A 3: 5,461,978 (GRCm39) C1218S probably damaging Het
Zfp84 T A 7: 29,476,607 (GRCm39) I433N probably damaging Het
Other mutations in Thsd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01936:Thsd1 APN 8 22,742,247 (GRCm39) missense probably damaging 1.00
IGL02288:Thsd1 APN 8 22,749,565 (GRCm39) missense probably damaging 1.00
IGL02517:Thsd1 APN 8 22,733,454 (GRCm39) missense probably damaging 1.00
IGL02591:Thsd1 APN 8 22,748,743 (GRCm39) missense probably damaging 1.00
IGL03378:Thsd1 APN 8 22,733,794 (GRCm39) missense probably benign 0.13
R0137:Thsd1 UTSW 8 22,733,055 (GRCm39) missense probably damaging 1.00
R0507:Thsd1 UTSW 8 22,748,695 (GRCm39) missense probably damaging 1.00
R0854:Thsd1 UTSW 8 22,748,587 (GRCm39) missense probably damaging 0.99
R1109:Thsd1 UTSW 8 22,733,708 (GRCm39) missense possibly damaging 0.93
R1402:Thsd1 UTSW 8 22,749,384 (GRCm39) missense possibly damaging 0.68
R1402:Thsd1 UTSW 8 22,749,384 (GRCm39) missense possibly damaging 0.68
R1899:Thsd1 UTSW 8 22,742,334 (GRCm39) splice site probably benign
R1900:Thsd1 UTSW 8 22,742,334 (GRCm39) splice site probably benign
R2008:Thsd1 UTSW 8 22,749,247 (GRCm39) missense probably benign 0.23
R2048:Thsd1 UTSW 8 22,749,333 (GRCm39) missense probably benign 0.01
R2090:Thsd1 UTSW 8 22,749,673 (GRCm39) missense possibly damaging 0.95
R2165:Thsd1 UTSW 8 22,728,538 (GRCm39) intron probably benign
R3831:Thsd1 UTSW 8 22,733,132 (GRCm39) missense possibly damaging 0.92
R3833:Thsd1 UTSW 8 22,733,132 (GRCm39) missense possibly damaging 0.92
R3847:Thsd1 UTSW 8 22,749,427 (GRCm39) missense probably damaging 0.97
R4049:Thsd1 UTSW 8 22,733,180 (GRCm39) missense possibly damaging 0.75
R4454:Thsd1 UTSW 8 22,733,594 (GRCm39) missense probably damaging 1.00
R4659:Thsd1 UTSW 8 22,749,314 (GRCm39) nonsense probably null
R4997:Thsd1 UTSW 8 22,733,340 (GRCm39) missense probably damaging 0.98
R6440:Thsd1 UTSW 8 22,748,569 (GRCm39) missense possibly damaging 0.59
R6457:Thsd1 UTSW 8 22,733,363 (GRCm39) missense probably damaging 0.97
R6488:Thsd1 UTSW 8 22,733,733 (GRCm39) missense probably benign 0.36
R6519:Thsd1 UTSW 8 22,749,081 (GRCm39) missense probably damaging 1.00
R7267:Thsd1 UTSW 8 22,733,597 (GRCm39) missense probably benign 0.10
R7448:Thsd1 UTSW 8 22,733,349 (GRCm39) missense possibly damaging 0.89
R7698:Thsd1 UTSW 8 22,749,003 (GRCm39) nonsense probably null
R7733:Thsd1 UTSW 8 22,748,737 (GRCm39) missense probably damaging 1.00
R7792:Thsd1 UTSW 8 22,733,114 (GRCm39) missense probably damaging 0.99
R7894:Thsd1 UTSW 8 22,749,585 (GRCm39) missense probably damaging 0.99
R8181:Thsd1 UTSW 8 22,733,022 (GRCm39) missense probably damaging 0.99
R8192:Thsd1 UTSW 8 22,733,918 (GRCm39) missense probably benign 0.22
R8426:Thsd1 UTSW 8 22,733,654 (GRCm39) missense probably benign 0.01
R8775:Thsd1 UTSW 8 22,749,643 (GRCm39) missense possibly damaging 0.48
R8775-TAIL:Thsd1 UTSW 8 22,749,643 (GRCm39) missense possibly damaging 0.48
R9339:Thsd1 UTSW 8 22,733,898 (GRCm39) missense probably damaging 1.00
R9494:Thsd1 UTSW 8 22,733,268 (GRCm39) missense probably benign 0.00
R9550:Thsd1 UTSW 8 22,733,026 (GRCm39) start gained probably benign
X0023:Thsd1 UTSW 8 22,749,583 (GRCm39) missense probably damaging 1.00
Z1088:Thsd1 UTSW 8 22,742,235 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATCATCCCGCCCTTGTTTAG -3'
(R):5'- ACTAGCAGTCCTCCTGAAGAG -3'

Sequencing Primer
(F):5'- TAGCTACCGCCTTGCCCAG -3'
(R):5'- CTCCTGAAGAGGGAACTTCTG -3'
Posted On 2014-10-15