Incidental Mutation 'R5223:Thsd4'
ID 402437
Institutional Source Beutler Lab
Gene Symbol Thsd4
Ensembl Gene ENSMUSG00000032289
Gene Name thrombospondin, type I, domain containing 4
Synonyms ADAMTSL6, B230114P05Rik
MMRRC Submission 042796-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R5223 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 59966931-60522046 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60057042 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 389 (D389G)
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: D29G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034829
Gene: ENSMUSG00000032289
AA Change: D29G

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: D389G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096257
Gene: ENSMUSG00000032289
AA Change: D389G

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: D389G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131418
Gene: ENSMUSG00000032289
AA Change: D389G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 120,013,452 (GRCm38) V273M possibly damaging Het
Acin1 CCGC CC 14: 54,642,941 (GRCm38) probably null Het
Acvr1b T A 15: 101,193,976 (GRCm38) C46S probably damaging Het
Ahi1 A T 10: 20,970,919 (GRCm38) H416L possibly damaging Het
Aspm T A 1: 139,478,334 (GRCm38) L1653Q probably damaging Het
Cacna1a G A 8: 84,587,195 (GRCm38) V1533M possibly damaging Het
Ccdc33 C T 9: 58,032,984 (GRCm38) E502K possibly damaging Het
Ctnnd1 C T 2: 84,616,789 (GRCm38) V371M probably damaging Het
Cyp2a12 A T 7: 27,036,463 (GRCm38) probably null Het
Dnai4 T A 4: 103,049,403 (GRCm38) S738C possibly damaging Het
Ep400 A G 5: 110,668,630 (GRCm38) V2675A probably damaging Het
Foxh1 T A 15: 76,668,729 (GRCm38) probably null Het
Gad1-ps G A 10: 99,445,147 (GRCm38) noncoding transcript Het
Gpnmb C T 6: 49,056,205 (GRCm38) T539M probably benign Het
Hdac1-ps A G 17: 78,492,438 (GRCm38) E286G probably benign Het
Hspa9 A G 18: 34,952,671 (GRCm38) probably null Het
Hspg2 T C 4: 137,543,914 (GRCm38) L2454P probably damaging Het
Ift140 T A 17: 25,035,812 (GRCm38) I422N probably benign Het
Igkv6-32 T C 6: 70,074,223 (GRCm38) S50G probably benign Het
Il23r T A 6: 67,486,170 (GRCm38) Y113F probably benign Het
Kcnt1 A G 2: 25,903,422 (GRCm38) D636G probably benign Het
Klhl41 G A 2: 69,679,827 (GRCm38) W569* probably null Het
Klra4 T A 6: 130,062,147 (GRCm38) D94V probably damaging Het
Lca5 T A 9: 83,398,613 (GRCm38) H378L probably benign Het
Lhx8 T A 3: 154,321,644 (GRCm38) T254S probably damaging Het
Lrch3 C T 16: 32,914,397 (GRCm38) R86W probably damaging Het
Lrp2 T A 2: 69,524,053 (GRCm38) N477I probably damaging Het
Man2a1 T A 17: 64,712,271 (GRCm38) I710K probably benign Het
Ncor1 A T 11: 62,339,000 (GRCm38) Y881N probably damaging Het
Nhsl1 T A 10: 18,526,326 (GRCm38) V1100E probably damaging Het
Oprk1 T C 1: 5,589,296 (GRCm38) V83A probably benign Het
Or4p8 T C 2: 88,897,334 (GRCm38) T88A probably benign Het
Or5p62 A G 7: 108,172,708 (GRCm38) V12A probably benign Het
Or7g35 T C 9: 19,585,026 (GRCm38) V163A probably benign Het
Pacs1 C T 19: 5,145,141 (GRCm38) V472I probably benign Het
Pard3b T C 1: 62,344,113 (GRCm38) Y789H probably damaging Het
Pcdha2 T C 18: 36,940,791 (GRCm38) Y492H probably damaging Het
Pcnt T C 10: 76,380,272 (GRCm38) N2261D probably damaging Het
Pex5l A T 3: 32,958,796 (GRCm38) S15T probably damaging Het
Plekhg4 A G 8: 105,378,949 (GRCm38) N682S probably benign Het
Poc5 A T 13: 96,402,955 (GRCm38) M335L probably benign Het
Polr1a C T 6: 71,967,907 (GRCm38) R1316W possibly damaging Het
Pp2d1 T C 17: 53,507,845 (GRCm38) H617R probably benign Het
Pramel24 T A 4: 143,728,021 (GRCm38) S296R probably benign Het
Prpsap1 T C 11: 116,488,148 (GRCm38) K65E probably benign Het
Ptgfrn T C 3: 101,045,593 (GRCm38) E775G probably benign Het
Ptprc T A 1: 138,117,862 (GRCm38) I87F probably benign Het
Rbbp8 C A 18: 11,721,690 (GRCm38) A324E probably benign Het
Rfx6 G T 10: 51,677,996 (GRCm38) G63* probably null Het
Rpl37a T C 1: 72,712,149 (GRCm38) M47T probably benign Het
Samm50 T G 15: 84,200,630 (GRCm38) N187K probably benign Het
Skic2 A G 17: 34,845,166 (GRCm38) probably null Het
Slamf9 T C 1: 172,476,232 (GRCm38) I48T possibly damaging Het
Slc2a12 A G 10: 22,702,032 (GRCm38) K576E probably damaging Het
Slc4a10 G A 2: 62,253,366 (GRCm38) G388S probably damaging Het
Smtn G T 11: 3,529,530 (GRCm38) N512K probably benign Het
Sntb1 C G 15: 55,642,795 (GRCm38) G461R probably damaging Het
Sspo A G 6: 48,478,324 (GRCm38) Y3040C probably damaging Het
Stat1 T A 1: 52,144,242 (GRCm38) V389E probably damaging Het
Sult5a1 A T 8: 123,145,422 (GRCm38) M227K probably damaging Het
Tnxb T C 17: 34,704,078 (GRCm38) V2545A possibly damaging Het
Tpo T A 12: 30,092,590 (GRCm38) I712F probably damaging Het
Trim62 T C 4: 128,909,411 (GRCm38) V418A probably damaging Het
Uqcrc1 C A 9: 108,942,156 (GRCm38) H95N probably damaging Het
Vmn2r114 ATTT ATT 17: 23,290,932 (GRCm38) probably null Het
Vmn2r66 T C 7: 85,007,885 (GRCm38) D104G probably benign Het
Wdr26 T C 1: 181,187,686 (GRCm38) I371V probably benign Het
Zfp273 T G 13: 67,826,179 (GRCm38) C475W probably damaging Het
Zfp738 G T 13: 67,673,063 (GRCm38) T55K probably damaging Het
Zmym2 A G 14: 56,946,514 (GRCm38) I978V probably benign Het
Other mutations in Thsd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02206:Thsd4 APN 9 60,394,115 (GRCm38) missense probably benign 0.22
IGL02418:Thsd4 APN 9 60,428,315 (GRCm38) missense probably damaging 0.99
IGL02491:Thsd4 APN 9 60,000,018 (GRCm38) missense probably damaging 0.99
IGL02754:Thsd4 APN 9 59,989,097 (GRCm38) splice site probably benign
IGL02874:Thsd4 APN 9 60,252,730 (GRCm38) missense probably damaging 1.00
IGL02978:Thsd4 APN 9 60,056,846 (GRCm38) splice site probably null
IGL03139:Thsd4 APN 9 59,997,173 (GRCm38) missense probably benign 0.01
R0266:Thsd4 UTSW 9 59,997,134 (GRCm38) missense probably benign 0.07
R0482:Thsd4 UTSW 9 60,002,978 (GRCm38) missense probably damaging 1.00
R1188:Thsd4 UTSW 9 60,394,406 (GRCm38) missense probably benign 0.12
R1447:Thsd4 UTSW 9 59,997,213 (GRCm38) missense probably benign
R1572:Thsd4 UTSW 9 60,394,553 (GRCm38) splice site probably benign
R1812:Thsd4 UTSW 9 60,056,937 (GRCm38) missense probably damaging 1.00
R2349:Thsd4 UTSW 9 59,972,515 (GRCm38) missense probably benign 0.05
R3236:Thsd4 UTSW 9 60,394,387 (GRCm38) missense probably benign
R4088:Thsd4 UTSW 9 59,997,222 (GRCm38) missense probably benign 0.02
R4884:Thsd4 UTSW 9 59,988,037 (GRCm38) missense probably benign 0.43
R4886:Thsd4 UTSW 9 59,989,030 (GRCm38) missense probably benign 0.00
R5066:Thsd4 UTSW 9 59,976,332 (GRCm38) missense probably damaging 1.00
R5441:Thsd4 UTSW 9 59,979,783 (GRCm38) missense probably damaging 1.00
R5457:Thsd4 UTSW 9 59,979,777 (GRCm38) missense probably damaging 1.00
R5574:Thsd4 UTSW 9 59,972,400 (GRCm38) missense probably damaging 1.00
R5581:Thsd4 UTSW 9 59,972,458 (GRCm38) missense possibly damaging 0.90
R5903:Thsd4 UTSW 9 60,394,106 (GRCm38) missense possibly damaging 0.47
R6220:Thsd4 UTSW 9 59,982,747 (GRCm38) missense probably damaging 1.00
R6728:Thsd4 UTSW 9 59,997,197 (GRCm38) missense probably benign
R7102:Thsd4 UTSW 9 59,976,304 (GRCm38) missense probably damaging 1.00
R7316:Thsd4 UTSW 9 59,987,359 (GRCm38) missense probably benign 0.00
R7403:Thsd4 UTSW 9 60,056,887 (GRCm38) missense probably damaging 0.99
R7638:Thsd4 UTSW 9 60,394,472 (GRCm38) missense probably damaging 1.00
R7671:Thsd4 UTSW 9 60,428,174 (GRCm38) missense probably benign
R7856:Thsd4 UTSW 9 60,002,861 (GRCm38) missense probably damaging 1.00
R8671:Thsd4 UTSW 9 60,394,445 (GRCm38) missense probably damaging 0.98
R9104:Thsd4 UTSW 9 60,056,896 (GRCm38) missense possibly damaging 0.95
R9182:Thsd4 UTSW 9 59,987,366 (GRCm38) missense probably benign 0.00
R9252:Thsd4 UTSW 9 60,056,947 (GRCm38) missense probably benign 0.04
R9663:Thsd4 UTSW 9 59,982,743 (GRCm38) missense probably damaging 1.00
Z1177:Thsd4 UTSW 9 59,988,094 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GAACTCACCTAAGTAGTTGTTGC -3'
(R):5'- GTGCATATGGGTACATGGGC -3'

Sequencing Primer
(F):5'- CACCTAAGTAGTTGTTGCTCTTG -3'
(R):5'- CTCACTGGTTGCCTAGAGACTAG -3'
Posted On 2016-07-22