Incidental Mutation 'R3833:Thsd1'
ID 275477
Institutional Source Beutler Lab
Gene Symbol Thsd1
Ensembl Gene ENSMUSG00000031480
Gene Name thrombospondin, type I, domain 1
Synonyms 4833423O18Rik, Tmtsp
MMRRC Submission 040888-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3833 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 22717329-22751350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 22733132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 60 (S60A)
Ref Sequence ENSEMBL: ENSMUSP00000067701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069828] [ENSMUST00000160585] [ENSMUST00000162447]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000069828
AA Change: S60A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000067701
Gene: ENSMUSG00000031480
AA Change: S60A

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 possibly damaging
Transcript: ENSMUST00000160585
AA Change: S60A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125118
Gene: ENSMUSG00000031480
AA Change: S60A

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 benign
Transcript: ENSMUST00000162447
Meta Mutation Damage Score 0.1166 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.4%
Validation Efficiency 97% (70/72)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik G A 9: 101,820,062 (GRCm39) G161S probably damaging Het
Acp7 T C 7: 28,314,519 (GRCm39) D282G probably benign Het
Atp10d T A 5: 72,396,568 (GRCm39) C258S possibly damaging Het
Atp6ap1 T C X: 73,340,813 (GRCm39) I10T possibly damaging Het
Atp6v0d2 T G 4: 19,922,395 (GRCm39) N35H probably damaging Het
Bcat1 T A 6: 144,955,834 (GRCm39) D349V probably damaging Het
Cacnb2 A T 2: 14,986,236 (GRCm39) I338F probably damaging Het
Ccn6 T C 10: 39,030,945 (GRCm39) K193E probably benign Het
Ccr1 T C 9: 123,764,324 (GRCm39) T69A possibly damaging Het
Cenpe T G 3: 134,928,083 (GRCm39) probably benign Het
Cps1 G A 1: 67,178,946 (GRCm39) G53R probably damaging Het
Cstb T C 10: 78,263,184 (GRCm39) F70L probably benign Het
Cyb5d2 G T 11: 72,686,349 (GRCm39) S80R possibly damaging Het
Cyfip2 T C 11: 46,152,333 (GRCm39) D485G probably benign Het
Cyp27b1 G T 10: 126,886,929 (GRCm39) V382L probably damaging Het
Cyp8b1 C A 9: 121,745,109 (GRCm39) Q74H probably benign Het
Dennd2a G A 6: 39,483,651 (GRCm39) P403L probably damaging Het
Dennd2a G T 6: 39,483,657 (GRCm39) S401Y probably damaging Het
Dnaaf5 T C 5: 139,167,320 (GRCm39) V447A possibly damaging Het
Dpp9 A T 17: 56,506,113 (GRCm39) F429I possibly damaging Het
Gcn1 A T 5: 115,730,191 (GRCm39) Q835L probably benign Het
Gtf2b T A 3: 142,477,153 (GRCm39) D8E probably benign Het
Hao1 A T 2: 134,364,925 (GRCm39) V234D probably damaging Het
Hephl1 T C 9: 14,981,044 (GRCm39) E796G probably damaging Het
Herc4 A G 10: 63,081,739 (GRCm39) I21V probably benign Het
Htt T A 5: 34,979,062 (GRCm39) V815D probably benign Het
Iglv2 A T 16: 19,079,593 (GRCm39) M1K probably null Het
Igsf8 G T 1: 172,145,837 (GRCm39) A315S probably benign Het
Il1a T C 2: 129,148,599 (GRCm39) D37G possibly damaging Het
Iqcb1 T A 16: 36,652,276 (GRCm39) C62* probably null Het
Itgad A T 7: 127,785,405 (GRCm39) T381S probably damaging Het
Itpkb T C 1: 180,161,260 (GRCm39) V462A probably benign Het
Kalrn T A 16: 33,860,259 (GRCm39) R199* probably null Het
Kif24 G T 4: 41,395,064 (GRCm39) A603D probably damaging Het
Kif26b GAAA GAA 1: 178,744,181 (GRCm39) probably null Het
Klrc3 A G 6: 129,620,181 (GRCm39) L24P probably damaging Het
Lmnb1 A C 18: 56,861,598 (GRCm39) D163A probably benign Het
Lrrc9 T C 12: 72,529,765 (GRCm39) L912P probably damaging Het
Mageh1 A T X: 151,820,004 (GRCm39) W111R probably damaging Het
Mapk7 A G 11: 61,380,680 (GRCm39) S641P possibly damaging Het
Mapt A T 11: 104,177,961 (GRCm39) Q38L possibly damaging Het
Med12 C A X: 100,339,498 (GRCm39) P2037Q possibly damaging Het
Med22 A G 2: 26,800,379 (GRCm39) S17P probably damaging Het
Mep1b C T 18: 21,219,296 (GRCm39) T150I possibly damaging Het
Mroh1 C T 15: 76,285,819 (GRCm39) T71I probably benign Het
Nap1l3 A G X: 121,305,995 (GRCm39) V241A possibly damaging Het
Pcdhga6 A T 18: 37,841,479 (GRCm39) N400Y probably damaging Het
Pdgfd T C 9: 6,359,762 (GRCm39) S278P probably damaging Het
Pgap1 A G 1: 54,596,624 (GRCm39) M39T probably damaging Het
Pgc C A 17: 48,040,236 (GRCm39) F93L probably null Het
Phf14 A G 6: 11,933,873 (GRCm39) probably null Het
Piezo2 A G 18: 63,214,733 (GRCm39) probably null Het
Pja2 T C 17: 64,616,397 (GRCm39) D166G probably benign Het
Ppp1r12c T A 7: 4,485,785 (GRCm39) probably benign Het
Pus3 G C 9: 35,477,874 (GRCm39) G369R probably benign Het
Rhbdf2 T A 11: 116,495,250 (GRCm39) D251V probably damaging Het
Rsad1 A G 11: 94,434,130 (GRCm39) V366A probably benign Het
S100a10 T C 3: 93,471,680 (GRCm39) V88A probably damaging Het
Scarf1 T C 11: 75,406,078 (GRCm39) C121R probably damaging Het
Scn7a A G 2: 66,528,028 (GRCm39) S821P probably damaging Het
Sco1 T C 11: 66,944,605 (GRCm39) V76A probably damaging Het
Sdsl C A 5: 120,601,183 (GRCm39) A30S probably benign Het
Slc26a6 C T 9: 108,733,117 (GRCm39) T32I possibly damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Snd1 G T 6: 28,531,403 (GRCm39) probably benign Het
Tdrd3 A G 14: 87,718,221 (GRCm39) T201A probably damaging Het
Tekt1 T C 11: 72,245,645 (GRCm39) N170S probably benign Het
Tmem121b C T 6: 120,469,841 (GRCm39) G292E probably damaging Het
Trim63 A G 4: 134,048,507 (GRCm39) N172S probably benign Het
Usp24 T C 4: 106,219,209 (GRCm39) probably null Het
Zdhhc16 T A 19: 41,926,553 (GRCm39) probably null Het
Zfp1010 T C 2: 176,956,998 (GRCm39) S167G possibly damaging Het
Zfp709 G A 8: 72,642,906 (GRCm39) V112M probably benign 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
R2209:Thsd1 UTSW 8 22,748,887 (GRCm39) missense probably damaging 1.00
R3831: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'- ACATCCTTGGCTTGGTTGC -3'
(R):5'- GGAACTTGCGTGCCATTGTC -3'

Sequencing Primer
(F):5'- GGCTTGGTTGCACATTCTC -3'
(R):5'- CTGTCACTTCCGGGATCATTACAAAC -3'
Posted On 2015-04-06