Incidental Mutation 'R3831:Thsd1'
ID 273999
Institutional Source Beutler Lab
Gene Symbol Thsd1
Ensembl Gene ENSMUSG00000031480
Gene Name thrombospondin, type I, domain 1
Synonyms 4833423O18Rik, Tmtsp
MMRRC Submission 040777-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3831 (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 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: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,880,992 (GRCm39) T527A unknown Het
Bcat1 T A 6: 144,955,834 (GRCm39) D349V probably damaging Het
Cacna1c A G 6: 118,581,424 (GRCm39) S1727P probably benign Het
Cacnb2 A T 2: 14,986,236 (GRCm39) I338F probably damaging Het
Cemip2 T G 19: 21,825,315 (GRCm39) S1204R probably damaging Het
Cibar2 T A 8: 120,901,633 (GRCm39) Y24F probably damaging 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
Dpp9 A T 17: 56,506,113 (GRCm39) F429I possibly damaging Het
Frmd4b T A 6: 97,389,486 (GRCm39) K73* probably null Het
Hao1 A T 2: 134,364,925 (GRCm39) V234D probably damaging Het
Hkdc1 T C 10: 62,235,991 (GRCm39) Y517C probably benign Het
Iglv2 A T 16: 19,079,593 (GRCm39) M1K probably null Het
Inpp5j T C 11: 3,450,229 (GRCm39) D228G probably damaging Het
Itih5 A G 2: 10,256,081 (GRCm39) D849G possibly damaging Het
Itpkb T C 1: 180,161,260 (GRCm39) V462A probably benign Het
Kif26b GAAA GAA 1: 178,744,181 (GRCm39) probably null Het
Kremen1 G GGGC 11: 5,151,794 (GRCm39) probably benign Het
Lzic G C 4: 149,573,185 (GRCm39) E112D probably null 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
Melk C A 4: 44,345,021 (GRCm39) Q384K probably benign Het
Morc2b C T 17: 33,356,233 (GRCm39) S513N probably benign Het
Nap1l3 A G X: 121,305,995 (GRCm39) V241A possibly damaging Het
Or2t45 T A 11: 58,669,571 (GRCm39) probably null Het
Or56a4 A G 7: 104,806,589 (GRCm39) F100S probably damaging Het
Or9e1 T G 11: 58,732,686 (GRCm39) F249V probably damaging Het
Pdgfd T C 9: 6,359,762 (GRCm39) S278P 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
Pja2 T C 17: 64,616,397 (GRCm39) D166G probably benign Het
Rgs5 A G 1: 169,504,470 (GRCm39) Y40C probably benign 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
Selp T A 1: 163,959,849 (GRCm39) C368* probably null Het
Sema3e T A 5: 14,276,496 (GRCm39) C294S probably damaging Het
Slit3 A T 11: 35,579,509 (GRCm39) S1229C probably null Het
Smarca5 A T 8: 81,455,123 (GRCm39) N199K probably damaging Het
Sorbs2 A T 8: 46,248,132 (GRCm39) D442V probably damaging Het
Specc1 T A 11: 62,008,793 (GRCm39) I183N probably damaging Het
Tcerg1 G T 18: 42,701,554 (GRCm39) R872L probably damaging Het
Tekt1 T C 11: 72,245,645 (GRCm39) N170S probably benign Het
Usp24 T C 4: 106,219,209 (GRCm39) probably null Het
Usp28 A G 9: 48,946,938 (GRCm39) T505A probably benign Het
Zcchc17 T C 4: 130,232,317 (GRCm39) D62G probably benign Het
Zfp445 T G 9: 122,681,541 (GRCm39) E800A probably damaging Het
Zranb1 C T 7: 132,584,505 (GRCm39) A591V 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
R2209:Thsd1 UTSW 8 22,748,887 (GRCm39) missense probably damaging 1.00
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'- AACATCCTTGGCTTGGTTGC -3'
(R):5'- GGAACTTGCGTGCCATTGTC -3'

Sequencing Primer
(F):5'- GGCTTGGTTGCACATTCTC -3'
(R):5'- CTGTCACTTCCGGGATCATTACAAAC -3'
Posted On 2015-04-02