Incidental Mutation 'R0507:Thsd1'
ID 47663
Institutional Source Beutler Lab
Gene Symbol Thsd1
Ensembl Gene ENSMUSG00000031480
Gene Name thrombospondin, type I, domain 1
Synonyms 4833423O18Rik, Tmtsp
MMRRC Submission 038702-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0507 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 22717329-22751350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22748695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 461 (I461N)
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: I522N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067701
Gene: ENSMUSG00000031480
AA Change: I522N

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: I469N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125118
Gene: ENSMUSG00000031480
AA Change: I469N

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: I461N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (72/72)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,838,655 (GRCm39) probably benign Het
Adamts16 T C 13: 70,916,766 (GRCm39) D742G probably benign Het
Akap9 G A 5: 4,119,043 (GRCm39) E3517K probably benign Het
Arfgef3 T C 10: 18,467,369 (GRCm39) T1944A probably damaging Het
Bsx A G 9: 40,787,796 (GRCm39) probably benign Het
Cct2 A T 10: 116,891,151 (GRCm39) probably null Het
Cdkl4 T C 17: 80,851,237 (GRCm39) D155G probably benign Het
Cep250 C T 2: 155,834,452 (GRCm39) R2126C possibly damaging Het
Cep97 A T 16: 55,726,245 (GRCm39) probably benign Het
Cpne3 C T 4: 19,532,544 (GRCm39) probably benign Het
Csmd1 T C 8: 16,235,358 (GRCm39) probably benign Het
Cx3cr1 C A 9: 119,881,022 (GRCm39) D127Y probably damaging Het
Dcdc2a A G 13: 25,286,572 (GRCm39) Q165R probably damaging Het
Ddx17 A G 15: 79,421,758 (GRCm39) probably benign Het
Dicer1 A G 12: 104,657,917 (GRCm39) S1886P probably damaging Het
Egf T C 3: 129,474,828 (GRCm39) D571G possibly damaging Het
Fyb1 A G 15: 6,664,297 (GRCm39) D460G probably benign Het
Gbp2 G T 3: 142,335,794 (GRCm39) D165Y probably damaging Het
Gm14412 A T 2: 177,006,325 (GRCm39) N523K possibly damaging Het
Gsap C T 5: 21,474,961 (GRCm39) T540I possibly damaging Het
Gucy2d C A 7: 98,108,209 (GRCm39) probably null Het
Icam4 C A 9: 20,940,799 (GRCm39) P17Q possibly damaging Het
Lyz1 A T 10: 117,125,022 (GRCm39) probably null Het
Matcap1 T C 8: 106,011,351 (GRCm39) N261S probably damaging Het
Mbd6 A G 10: 127,119,389 (GRCm39) probably benign Het
Mroh3 A T 1: 136,118,718 (GRCm39) I533N probably damaging Het
Muc4 A T 16: 32,569,887 (GRCm39) M316L probably benign Het
Myof A G 19: 37,889,725 (GRCm39) I1282T possibly damaging Het
Ncald T G 15: 37,397,528 (GRCm39) I51L probably benign Het
Negr1 T A 3: 156,267,862 (GRCm39) S11T probably damaging Het
Obscn T C 11: 58,920,167 (GRCm39) N6735D probably damaging Het
Or52n4b T C 7: 108,144,292 (GRCm39) S185P probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or6c1b A T 10: 129,273,157 (GRCm39) M159L probably benign Het
Or9q1 T A 19: 13,805,140 (GRCm39) I207F possibly damaging Het
Otogl A G 10: 107,702,601 (GRCm39) V684A possibly damaging Het
Palm3 A G 8: 84,754,958 (GRCm39) T157A probably benign Het
Pard3 T A 8: 128,097,967 (GRCm39) probably benign Het
Pcdh15 A G 10: 74,457,129 (GRCm39) D1302G probably damaging Het
Pi16 G A 17: 29,546,826 (GRCm39) E467K possibly damaging Het
Plec A T 15: 76,056,983 (GRCm39) I4183N probably damaging Het
Ppp1r13l T C 7: 19,109,739 (GRCm39) L720P possibly damaging Het
Prag1 A G 8: 36,571,277 (GRCm39) E620G probably damaging Het
Ralbp1 G A 17: 66,156,955 (GRCm39) T646M probably benign Het
Rnf182 T G 13: 43,821,823 (GRCm39) S125A probably benign Het
Rpe C T 1: 66,754,300 (GRCm39) T124I probably benign Het
Rufy4 T C 1: 74,185,875 (GRCm39) I514T probably benign Het
Sec13 A T 6: 113,712,080 (GRCm39) I85N probably damaging Het
Siglec1 C T 2: 130,916,445 (GRCm39) probably benign Het
Skint5 T C 4: 113,425,127 (GRCm39) probably null Het
Slc4a3 T A 1: 75,532,725 (GRCm39) I995K probably damaging Het
Smyd4 T A 11: 75,290,534 (GRCm39) S545T possibly damaging Het
Steap3 C T 1: 120,169,313 (GRCm39) R328H possibly damaging Het
Tgm6 G A 2: 129,980,751 (GRCm39) E183K possibly damaging Het
Themis T A 10: 28,657,828 (GRCm39) V132E possibly damaging Het
Ttk T G 9: 83,750,120 (GRCm39) S692A probably damaging Het
Twf1 A G 15: 94,483,411 (GRCm39) M99T probably damaging Het
Uchl3 T A 14: 101,904,443 (GRCm39) L89* probably null Het
Uhmk1 A G 1: 170,034,760 (GRCm39) V316A probably damaging Het
Unc80 A G 1: 66,567,052 (GRCm39) N886S possibly damaging Het
Vash2 G T 1: 190,699,115 (GRCm39) probably benign Het
Vmn1r200 G A 13: 22,579,718 (GRCm39) E174K probably benign Het
Vps16 T C 2: 130,279,632 (GRCm39) probably null Het
Wdr73 T C 7: 80,541,594 (GRCm39) E316G possibly damaging Het
Xpo1 T C 11: 23,244,682 (GRCm39) V1020A possibly damaging Het
Ylpm1 T A 12: 85,075,886 (GRCm39) N870K probably benign Het
Zfhx4 C T 3: 5,466,048 (GRCm39) Q2069* probably null Het
Zfp1005 T A 2: 150,110,044 (GRCm39) C245S possibly damaging Het
Zfp512b C A 2: 181,226,757 (GRCm39) 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
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: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'- CGATGAAGAGAACATCTGCGAGCTG -3'
(R):5'- TCCTGAAGAGGGAACTTCTGGAGTG -3'

Sequencing Primer
(F):5'- CATCTGCGAGCTGAGTGAG -3'
(R):5'- AACTTCTGGAGTGGCACCTC -3'
Posted On 2013-06-12