Incidental Mutation 'R4124:Adamtsl4'
ID 315309
Institutional Source Beutler Lab
Gene Symbol Adamtsl4
Ensembl Gene ENSMUSG00000015850
Gene Name ADAMTS-like 4
Synonyms Tsrc1
MMRRC Submission 041632-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4124 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95583511-95595228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95588982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 483 (R483Q)
Ref Sequence ENSEMBL: ENSMUSP00000113424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015994] [ENSMUST00000117782] [ENSMUST00000148854]
AlphaFold Q80T21
Predicted Effect probably benign
Transcript: ENSMUST00000015994
AA Change: R483Q

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000015994
Gene: ENSMUSG00000015850
AA Change: R483Q

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
TSP1 46 96 1.07e-4 SMART
low complexity region 109 118 N/A INTRINSIC
low complexity region 160 172 N/A INTRINSIC
low complexity region 260 269 N/A INTRINSIC
Pfam:ADAM_spacer1 449 564 3.9e-31 PFAM
low complexity region 607 623 N/A INTRINSIC
TSP1 632 688 6e0 SMART
TSP1 690 748 5.64e-4 SMART
TSP1 750 806 7.16e-6 SMART
TSP1 808 871 1.95e-2 SMART
TSP1 875 933 7.86e-3 SMART
TSP1 935 988 3.34e-6 SMART
Pfam:PLAC 995 1025 4.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117782
AA Change: R483Q

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113424
Gene: ENSMUSG00000015850
AA Change: R483Q

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
TSP1 46 96 1.07e-4 SMART
low complexity region 109 118 N/A INTRINSIC
low complexity region 160 172 N/A INTRINSIC
low complexity region 260 269 N/A INTRINSIC
Pfam:ADAM_spacer1 449 564 3e-31 PFAM
low complexity region 607 623 N/A INTRINSIC
TSP1 632 688 6e0 SMART
TSP1 690 748 5.64e-4 SMART
TSP1 750 806 7.16e-6 SMART
TSP1 808 871 1.95e-2 SMART
TSP1 875 933 7.86e-3 SMART
TSP1 935 988 3.34e-6 SMART
Pfam:PLAC 994 1026 3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124410
Predicted Effect probably benign
Transcript: ENSMUST00000148854
SMART Domains Protein: ENSMUSP00000120844
Gene: ENSMUSG00000015850

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Blast:TSP1 51 70 2e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151054
Meta Mutation Damage Score 0.0765 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the ADAMTS superfamily of secreted proteins, which contain a metalloprotease domain at the N-terminus and a C-terminal ancillary domain. ADAMTS-like proteins lack protease activity and resemble the ancillary domain of ADAMTS proteins. ADAMTS-like proteins have been implicated in regulation of the extracellular matrix. The encoded protein contains 7 thrombospondin type 1 repeats, a conserved extracellular domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,643,345 (GRCm39) M338K probably damaging Het
4933409G03Rik T A 2: 68,446,568 (GRCm39) probably benign Het
Aldh7a1 A T 18: 56,670,395 (GRCm39) probably benign Het
Ank T C 15: 27,571,709 (GRCm39) F327S probably damaging Het
Ap2b1 A G 11: 83,256,471 (GRCm39) probably null Het
Cd6 G T 19: 10,767,972 (GRCm39) P630T probably damaging Het
Cdk19 A G 10: 40,270,391 (GRCm39) I67V probably benign Het
D630003M21Rik C T 2: 158,038,513 (GRCm39) V978M probably damaging Het
Dsp A G 13: 38,370,689 (GRCm39) D864G probably damaging Het
Duox1 A G 2: 122,167,902 (GRCm39) R1062G probably damaging Het
Fbp2 T C 13: 63,002,755 (GRCm39) E99G probably damaging Het
Fras1 A G 5: 96,918,512 (GRCm39) D3516G probably benign Het
Gpx6 C T 13: 21,501,815 (GRCm39) Q146* probably null Het
Grid2 A T 6: 63,480,417 (GRCm39) Q77L probably benign Het
Hrh1 T C 6: 114,457,580 (GRCm39) V287A probably benign Het
Kmt2a T C 9: 44,731,093 (GRCm39) probably benign Het
Mak A T 13: 41,210,106 (GRCm39) D43E probably benign Het
Or14j8 A G 17: 38,263,681 (GRCm39) I78T probably benign Het
Poln A G 5: 34,261,295 (GRCm39) S561P probably benign Het
Ptpn11 T C 5: 121,275,520 (GRCm39) S562G probably benign Het
Pxn A G 5: 115,684,966 (GRCm39) R264G probably damaging Het
Rell2 A G 18: 38,091,267 (GRCm39) H144R probably benign Het
Rpgrip1 T C 14: 52,389,781 (GRCm39) probably null Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slamf9 T C 1: 172,303,808 (GRCm39) I51T probably damaging Het
Tep1 C T 14: 51,081,191 (GRCm39) R1349Q possibly damaging Het
Tgtp2 T C 11: 48,950,238 (GRCm39) I111M probably damaging Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Vmn1r215 A T 13: 23,260,163 (GRCm39) T68S probably benign Het
Ypel2 A G 11: 86,836,753 (GRCm39) probably null Het
Other mutations in Adamtsl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Adamtsl4 APN 3 95,584,843 (GRCm39) missense probably benign 0.22
IGL01685:Adamtsl4 APN 3 95,591,905 (GRCm39) missense possibly damaging 0.93
IGL01707:Adamtsl4 APN 3 95,591,301 (GRCm39) missense probably benign 0.39
IGL02105:Adamtsl4 APN 3 95,587,374 (GRCm39) missense probably damaging 1.00
IGL02545:Adamtsl4 APN 3 95,590,684 (GRCm39) nonsense probably null
IGL03089:Adamtsl4 APN 3 95,584,556 (GRCm39) missense probably damaging 1.00
R0099:Adamtsl4 UTSW 3 95,591,449 (GRCm39) missense probably benign 0.00
R0718:Adamtsl4 UTSW 3 95,586,918 (GRCm39) missense possibly damaging 0.49
R0962:Adamtsl4 UTSW 3 95,591,798 (GRCm39) nonsense probably null
R1157:Adamtsl4 UTSW 3 95,590,971 (GRCm39) missense possibly damaging 0.88
R1434:Adamtsl4 UTSW 3 95,588,094 (GRCm39) missense probably damaging 1.00
R1486:Adamtsl4 UTSW 3 95,589,166 (GRCm39) missense probably benign 0.23
R1579:Adamtsl4 UTSW 3 95,592,807 (GRCm39) start gained probably benign
R1703:Adamtsl4 UTSW 3 95,584,924 (GRCm39) missense probably damaging 1.00
R1757:Adamtsl4 UTSW 3 95,585,252 (GRCm39) missense probably benign 0.00
R2018:Adamtsl4 UTSW 3 95,588,412 (GRCm39) missense probably damaging 1.00
R2108:Adamtsl4 UTSW 3 95,588,357 (GRCm39) missense probably damaging 1.00
R3889:Adamtsl4 UTSW 3 95,588,167 (GRCm39) missense probably damaging 1.00
R4062:Adamtsl4 UTSW 3 95,584,864 (GRCm39) missense probably benign 0.00
R4063:Adamtsl4 UTSW 3 95,584,864 (GRCm39) missense probably benign 0.00
R4128:Adamtsl4 UTSW 3 95,588,982 (GRCm39) missense probably benign 0.21
R4432:Adamtsl4 UTSW 3 95,589,069 (GRCm39) splice site probably null
R4433:Adamtsl4 UTSW 3 95,589,069 (GRCm39) splice site probably null
R4643:Adamtsl4 UTSW 3 95,591,929 (GRCm39) missense possibly damaging 0.90
R4694:Adamtsl4 UTSW 3 95,587,055 (GRCm39) missense probably damaging 1.00
R4719:Adamtsl4 UTSW 3 95,586,896 (GRCm39) critical splice donor site probably null
R4929:Adamtsl4 UTSW 3 95,585,315 (GRCm39) missense probably damaging 1.00
R5044:Adamtsl4 UTSW 3 95,588,960 (GRCm39) critical splice donor site probably null
R5212:Adamtsl4 UTSW 3 95,584,980 (GRCm39) missense probably damaging 1.00
R5234:Adamtsl4 UTSW 3 95,588,230 (GRCm39) missense probably benign 0.00
R5268:Adamtsl4 UTSW 3 95,587,473 (GRCm39) missense probably damaging 0.98
R5473:Adamtsl4 UTSW 3 95,587,303 (GRCm39) missense probably damaging 0.98
R5509:Adamtsl4 UTSW 3 95,588,667 (GRCm39) missense probably benign 0.00
R5566:Adamtsl4 UTSW 3 95,592,765 (GRCm39) critical splice donor site probably null
R5891:Adamtsl4 UTSW 3 95,589,623 (GRCm39) missense possibly damaging 0.95
R5906:Adamtsl4 UTSW 3 95,588,094 (GRCm39) missense probably damaging 1.00
R6224:Adamtsl4 UTSW 3 95,589,039 (GRCm39) missense probably damaging 1.00
R6530:Adamtsl4 UTSW 3 95,588,364 (GRCm39) missense probably benign 0.00
R6861:Adamtsl4 UTSW 3 95,588,194 (GRCm39) missense probably damaging 1.00
R7199:Adamtsl4 UTSW 3 95,588,119 (GRCm39) missense probably benign 0.00
R8083:Adamtsl4 UTSW 3 95,591,711 (GRCm39) missense possibly damaging 0.76
R8251:Adamtsl4 UTSW 3 95,591,884 (GRCm39) missense probably damaging 1.00
R8701:Adamtsl4 UTSW 3 95,592,276 (GRCm39) missense possibly damaging 0.94
R8723:Adamtsl4 UTSW 3 95,584,426 (GRCm39) missense possibly damaging 0.80
R8724:Adamtsl4 UTSW 3 95,584,426 (GRCm39) missense possibly damaging 0.80
R8725:Adamtsl4 UTSW 3 95,584,426 (GRCm39) missense possibly damaging 0.80
R8786:Adamtsl4 UTSW 3 95,592,784 (GRCm39) start codon destroyed probably null 0.98
R9218:Adamtsl4 UTSW 3 95,588,404 (GRCm39) nonsense probably null
R9257:Adamtsl4 UTSW 3 95,588,575 (GRCm39) missense probably damaging 1.00
R9632:Adamtsl4 UTSW 3 95,589,090 (GRCm39) missense probably damaging 0.96
R9749:Adamtsl4 UTSW 3 95,591,457 (GRCm39) missense probably benign
X0028:Adamtsl4 UTSW 3 95,584,274 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGAAGCCTTTGTGCCCAGAG -3'
(R):5'- CTCTGACTTGAAGCACAAAGAG -3'

Sequencing Primer
(F):5'- TTTGTGCCCAGAGACCTCGAC -3'
(R):5'- CCAGGTGTGAGGGATGCCTG -3'
Posted On 2015-05-14