Incidental Mutation 'R8775:Thsd1'
ID 664663
Institutional Source Beutler Lab
Gene Symbol Thsd1
Ensembl Gene ENSMUSG00000031480
Gene Name thrombospondin, type I, domain 1
Synonyms 4833423O18Rik, Tmtsp
MMRRC Submission 068719-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8775 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 22717329-22751350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 22749643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 838 (D838G)
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: D838G

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000067701
Gene: ENSMUSG00000031480
AA Change: D838G

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: D785G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125118
Gene: ENSMUSG00000031480
AA Change: D785G

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 possibly damaging
Transcript: ENSMUST00000162447
AA Change: D777G

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 T C 6: 39,552,142 (GRCm39) probably null Het
Alpk3 A C 7: 80,727,598 (GRCm39) M243L probably benign Het
Anapc1 A T 2: 128,499,093 (GRCm39) Y860N possibly damaging Het
Asprv1 T C 6: 86,605,321 (GRCm39) S56P probably damaging Het
D130043K22Rik G T 13: 25,040,982 (GRCm39) E135* probably null Het
Dnmt3b A G 2: 153,511,711 (GRCm39) H293R possibly damaging Het
Dsg1a C T 18: 20,473,564 (GRCm39) S879L probably damaging Het
Fbxo24 C T 5: 137,611,213 (GRCm39) A526T possibly damaging Het
Fign A T 2: 63,810,891 (GRCm39) D126E probably benign Het
Gpr137 A G 19: 6,915,800 (GRCm39) F377L probably damaging Het
Gsdma2 A G 11: 98,540,009 (GRCm39) K44E probably damaging Het
Iigp1 A C 18: 60,523,596 (GRCm39) Y238S probably damaging Het
Itga8 C G 2: 12,187,495 (GRCm39) G728A probably damaging Het
Kcnip2 T C 19: 45,782,149 (GRCm39) N258S possibly damaging Het
Lcat A G 8: 106,669,023 (GRCm39) I84T possibly damaging Het
Mansc1 C T 6: 134,587,631 (GRCm39) R182H probably benign Het
Myh4 T C 11: 67,148,006 (GRCm39) M1685T probably benign Het
Myo10 T A 15: 25,800,145 (GRCm39) V1407E probably damaging Het
Ncam2 T A 16: 81,314,429 (GRCm39) N468K probably benign Het
Nckap1 A G 2: 80,375,410 (GRCm39) S297P probably benign Het
Nefm T C 14: 68,362,108 (GRCm39) Y52C probably damaging Het
Ntng2 A T 2: 29,117,976 (GRCm39) N157K possibly damaging Het
Oscp1 T C 4: 125,970,619 (GRCm39) V136A probably benign Het
Oser1 G A 2: 163,249,004 (GRCm39) T66I probably benign Het
Palld A G 8: 62,138,006 (GRCm39) L583P possibly damaging Het
Pex7 A G 10: 19,760,522 (GRCm39) probably null Het
Ppp2r3d A G 9: 101,004,204 (GRCm39) Y378H probably benign Het
Prss33 T A 17: 24,052,885 (GRCm39) N263I possibly damaging Het
Psg25 A C 7: 18,255,153 (GRCm39) C454W probably damaging Het
Ptpn21 T C 12: 98,649,001 (GRCm39) probably null Het
Sh3bp2 A T 5: 34,719,751 (GRCm39) S587C probably damaging Het
Sos2 A G 12: 69,664,006 (GRCm39) F493L probably benign Het
St8sia4 T A 1: 95,519,472 (GRCm39) T339S possibly damaging Het
Taok1 T C 11: 77,470,632 (GRCm39) K58E probably benign Het
Tulp2 A G 7: 45,164,914 (GRCm39) T65A probably benign Het
Usp54 A T 14: 20,638,466 (GRCm39) S205T probably benign Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Vmn2r37 A T 7: 9,218,991 (GRCm39) Y464* probably null Het
Wdsub1 A G 2: 59,693,014 (GRCm39) M300T probably damaging Het
Xrcc5 C T 1: 72,433,089 (GRCm39) T716I probably benign Het
Zfp619 G T 7: 39,184,639 (GRCm39) C223F possibly 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
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
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-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'- TGCCTCAAGGAAGCAGTCTTC -3'
(R):5'- CAGCATAAACCACTTCTTCCTG -3'

Sequencing Primer
(F):5'- CATTTTCCTCAAAGATAGCTACCAG -3'
(R):5'- TTCCTGATTAATCAAAACCACATGCG -3'
Posted On 2021-03-08