Incidental Mutation 'R5574:Thsd4'
ID 437120
Institutional Source Beutler Lab
Gene Symbol Thsd4
Ensembl Gene ENSMUSG00000032289
Gene Name thrombospondin, type I, domain containing 4
Synonyms B230114P05Rik, ADAMTSL6
MMRRC Submission 043129-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5574 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 59874214-60429329 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 59879683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1018 (R1018L)
Ref Sequence ENSEMBL: ENSMUSP00000131418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034829] [ENSMUST00000098660] [ENSMUST00000171654]
AlphaFold Q3UTY6
Predicted Effect probably damaging
Transcript: ENSMUST00000034829
AA Change: R658L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034829
Gene: ENSMUSG00000032289
AA Change: R658L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:ADAM_spacer1 52 168 7.8e-40 PFAM
low complexity region 189 205 N/A INTRINSIC
TSP1 261 317 1.51e-1 SMART
TSP1 319 377 8.11e-5 SMART
TSP1 379 434 7.92e-8 SMART
TSP1 436 491 1.6e-3 SMART
TSP1 495 553 4.82e-2 SMART
TSP1 556 608 1.03e-6 SMART
Pfam:PLAC 614 646 2.5e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098660
AA Change: R1018L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: R1018L

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
TSP1 57 100 7.9e-2 SMART
low complexity region 160 175 N/A INTRINSIC
low complexity region 187 202 N/A INTRINSIC
Pfam:ADAM_spacer1 412 528 1.5e-39 PFAM
low complexity region 549 565 N/A INTRINSIC
TSP1 621 677 1.51e-1 SMART
TSP1 679 737 8.11e-5 SMART
TSP1 739 794 7.92e-8 SMART
TSP1 796 851 1.6e-3 SMART
TSP1 855 913 4.82e-2 SMART
TSP1 916 968 1.03e-6 SMART
Pfam:PLAC 974 1006 4.2e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000171654
AA Change: R1018L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: R1018L

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
TSP1 57 100 7.9e-2 SMART
low complexity region 160 175 N/A INTRINSIC
low complexity region 187 202 N/A INTRINSIC
Pfam:ADAM_spacer1 412 528 5.4e-40 PFAM
low complexity region 549 565 N/A INTRINSIC
TSP1 621 677 1.51e-1 SMART
TSP1 679 737 8.11e-5 SMART
TSP1 739 794 7.92e-8 SMART
TSP1 796 851 1.6e-3 SMART
TSP1 855 913 4.82e-2 SMART
TSP1 916 968 1.03e-6 SMART
Pfam:PLAC 975 1005 1.3e-12 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T A 14: 59,380,205 (GRCm39) N31I possibly damaging Het
Acvr1b T A 15: 101,099,958 (GRCm39) M304K probably benign Het
Adamts1 G T 16: 85,596,530 (GRCm39) D106E probably damaging Het
Atosa A T 9: 74,917,672 (GRCm39) D757V probably damaging Het
Blm C A 7: 80,149,521 (GRCm39) C696F probably damaging Het
Bnip3l-ps T A 12: 18,267,119 (GRCm39) noncoding transcript Het
Ccdc171 A T 4: 83,611,990 (GRCm39) N895I probably damaging Het
Cdhr4 A T 9: 107,870,527 (GRCm39) probably benign Het
Cfap97 T C 8: 46,623,179 (GRCm39) S190P probably damaging Het
Chrnb1 A C 11: 69,684,509 (GRCm39) probably benign Het
Clns1a A G 7: 97,370,165 (GRCm39) probably benign Het
Col8a2 G A 4: 126,205,061 (GRCm39) probably benign Het
Cr2 T A 1: 194,823,544 (GRCm39) E721V probably damaging Het
Csk A G 9: 57,536,584 (GRCm39) V172A probably benign Het
Cyp2g1 G A 7: 26,520,165 (GRCm39) V466M possibly damaging Het
Cyp4f13 A G 17: 33,148,179 (GRCm39) Y349H probably benign Het
Dnm1l T C 16: 16,147,685 (GRCm39) Y205C probably damaging Het
Dync1i2 A T 2: 71,063,994 (GRCm39) T113S probably benign Het
Edem2 T C 2: 155,558,075 (GRCm39) E186G probably damaging Het
Eya2 G A 2: 165,605,736 (GRCm39) R380H probably damaging Het
Gldn A G 9: 54,220,206 (GRCm39) T132A probably damaging Het
Gm13941 A T 2: 110,930,951 (GRCm39) I74K unknown Het
Gm3898 C T 9: 43,741,339 (GRCm39) noncoding transcript Het
Ighmbp2 C T 19: 3,321,536 (GRCm39) V408I probably benign Het
Klhdc10 C T 6: 30,439,864 (GRCm39) L127F possibly damaging Het
Letm1 G A 5: 33,926,730 (GRCm39) T189M possibly damaging Het
Lrrc17 A T 5: 21,775,355 (GRCm39) I306F possibly damaging Het
Lrrk2 T A 15: 91,671,219 (GRCm39) V2000E probably damaging Het
Mettl9 A T 7: 120,647,093 (GRCm39) E66D probably benign Het
Mroh1 T A 15: 76,318,131 (GRCm39) V877D probably benign Het
Mycbp2 C T 14: 103,380,203 (GRCm39) V3760M possibly damaging Het
Nos3 A G 5: 24,573,859 (GRCm39) T208A possibly damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Obp2a A T 2: 25,590,842 (GRCm39) T70S possibly damaging Het
Or4a72 C T 2: 89,405,321 (GRCm39) V250I possibly damaging Het
Or52a5b T G 7: 103,417,323 (GRCm39) I94L possibly damaging Het
Or5al6 T C 2: 85,976,535 (GRCm39) D181G probably damaging Het
Or8b8 A T 9: 37,808,877 (GRCm39) Y59F probably damaging Het
Or8h10 A G 2: 86,808,867 (GRCm39) V91A probably benign Het
Pate2 A G 9: 35,597,411 (GRCm39) probably benign Het
Pdzph1 A G 17: 59,280,942 (GRCm39) F447L probably benign Het
Pias1 A G 9: 62,827,775 (GRCm39) C211R probably damaging Het
Plb1 A G 5: 32,487,291 (GRCm39) S929G probably benign Het
Pramel32 T G 4: 88,546,280 (GRCm39) E354A probably benign Het
Prc1 G A 7: 79,944,290 (GRCm39) probably benign Het
Prex2 A G 1: 11,210,282 (GRCm39) D574G probably damaging Het
Rapgef4 G A 2: 71,864,464 (GRCm39) probably null Het
Rmc1 CTGTGTGTT CTGTGTGTTGTGTGTT 18: 12,318,063 (GRCm39) probably null Het
Rock2 T C 12: 17,011,642 (GRCm39) M690T possibly damaging Het
Sinhcaf C T 6: 148,846,378 (GRCm39) probably benign Het
Slc18a2 A G 19: 59,249,837 (GRCm39) I25V probably benign Het
Slc9a5 T A 8: 106,091,323 (GRCm39) I701K probably benign Het
Sorcs1 T A 19: 50,210,571 (GRCm39) N765Y probably damaging Het
Ssh2 A T 11: 77,340,941 (GRCm39) I698L probably benign Het
Stam A G 2: 14,120,675 (GRCm39) D58G probably damaging Het
Tnxb A G 17: 34,929,998 (GRCm39) T2911A probably benign Het
Trpm7 A C 2: 126,654,950 (GRCm39) F1329L probably benign Het
Ttll9 A G 2: 152,826,168 (GRCm39) E126G possibly damaging Het
Tubgcp5 G A 7: 55,455,077 (GRCm39) V258M probably benign Het
Unc45a G A 7: 79,984,604 (GRCm39) A232V probably damaging Het
Utp14b G A 1: 78,644,126 (GRCm39) V675M probably damaging Het
Vmn2r67 T A 7: 84,801,099 (GRCm39) H279L probably benign Het
Vmn2r75 G T 7: 85,815,510 (GRCm39) A118E probably benign Het
Wdr36 A T 18: 32,999,012 (GRCm39) Q886L probably damaging Het
Zfp433 T A 10: 81,555,125 (GRCm39) Y27* probably null Het
Zfp715 A T 7: 42,960,463 (GRCm39) S43T possibly damaging Het
Zfyve26 A G 12: 79,286,698 (GRCm39) S2297P possibly damaging Het
Other mutations in Thsd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02206:Thsd4 APN 9 60,301,398 (GRCm39) missense probably benign 0.22
IGL02418:Thsd4 APN 9 60,335,598 (GRCm39) missense probably damaging 0.99
IGL02491:Thsd4 APN 9 59,907,301 (GRCm39) missense probably damaging 0.99
IGL02754:Thsd4 APN 9 59,896,380 (GRCm39) splice site probably benign
IGL02874:Thsd4 APN 9 60,160,013 (GRCm39) missense probably damaging 1.00
IGL02978:Thsd4 APN 9 59,964,129 (GRCm39) splice site probably null
IGL03139:Thsd4 APN 9 59,904,456 (GRCm39) missense probably benign 0.01
R0266:Thsd4 UTSW 9 59,904,417 (GRCm39) missense probably benign 0.07
R0482:Thsd4 UTSW 9 59,910,261 (GRCm39) missense probably damaging 1.00
R1188:Thsd4 UTSW 9 60,301,689 (GRCm39) missense probably benign 0.12
R1447:Thsd4 UTSW 9 59,904,496 (GRCm39) missense probably benign
R1572:Thsd4 UTSW 9 60,301,836 (GRCm39) splice site probably benign
R1812:Thsd4 UTSW 9 59,964,220 (GRCm39) missense probably damaging 1.00
R2349:Thsd4 UTSW 9 59,879,798 (GRCm39) missense probably benign 0.05
R3236:Thsd4 UTSW 9 60,301,670 (GRCm39) missense probably benign
R4088:Thsd4 UTSW 9 59,904,505 (GRCm39) missense probably benign 0.02
R4884:Thsd4 UTSW 9 59,895,320 (GRCm39) missense probably benign 0.43
R4886:Thsd4 UTSW 9 59,896,313 (GRCm39) missense probably benign 0.00
R5066:Thsd4 UTSW 9 59,883,615 (GRCm39) missense probably damaging 1.00
R5223:Thsd4 UTSW 9 59,964,325 (GRCm39) missense probably damaging 1.00
R5441:Thsd4 UTSW 9 59,887,066 (GRCm39) missense probably damaging 1.00
R5457:Thsd4 UTSW 9 59,887,060 (GRCm39) missense probably damaging 1.00
R5581:Thsd4 UTSW 9 59,879,741 (GRCm39) missense possibly damaging 0.90
R5903:Thsd4 UTSW 9 60,301,389 (GRCm39) missense possibly damaging 0.47
R6220:Thsd4 UTSW 9 59,890,030 (GRCm39) missense probably damaging 1.00
R6728:Thsd4 UTSW 9 59,904,480 (GRCm39) missense probably benign
R7102:Thsd4 UTSW 9 59,883,587 (GRCm39) missense probably damaging 1.00
R7316:Thsd4 UTSW 9 59,894,642 (GRCm39) missense probably benign 0.00
R7403:Thsd4 UTSW 9 59,964,170 (GRCm39) missense probably damaging 0.99
R7638:Thsd4 UTSW 9 60,301,755 (GRCm39) missense probably damaging 1.00
R7671:Thsd4 UTSW 9 60,335,457 (GRCm39) missense probably benign
R7856:Thsd4 UTSW 9 59,910,144 (GRCm39) missense probably damaging 1.00
R8671:Thsd4 UTSW 9 60,301,728 (GRCm39) missense probably damaging 0.98
R9104:Thsd4 UTSW 9 59,964,179 (GRCm39) missense possibly damaging 0.95
R9182:Thsd4 UTSW 9 59,894,649 (GRCm39) missense probably benign 0.00
R9252:Thsd4 UTSW 9 59,964,230 (GRCm39) missense probably benign 0.04
R9663:Thsd4 UTSW 9 59,890,026 (GRCm39) missense probably damaging 1.00
Z1177:Thsd4 UTSW 9 59,895,377 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTTGGGATGAGAGCTCTATGC -3'
(R):5'- TTCGGCTGAGGAGTCTCTTC -3'

Sequencing Primer
(F):5'- GCTGGATTTTCAGAAGGCACCATC -3'
(R):5'- GCTGAGGAGTCTCTTCTGTTCTC -3'
Posted On 2016-10-26