Incidental Mutation 'R0962:Adamtsl4'
ID 81239
Institutional Source Beutler Lab
Gene Symbol Adamtsl4
Ensembl Gene ENSMUSG00000015850
Gene Name ADAMTS-like 4
Synonyms Tsrc1
MMRRC Submission 039091-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0962 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 95583511-95595228 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 95591798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 97 (R97*)
Ref Sequence ENSEMBL: ENSMUSP00000113424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015994] [ENSMUST00000117782] [ENSMUST00000148854]
AlphaFold Q80T21
Predicted Effect probably null
Transcript: ENSMUST00000015994
AA Change: R97*
SMART Domains Protein: ENSMUSP00000015994
Gene: ENSMUSG00000015850
AA Change: R97*

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 null
Transcript: ENSMUST00000117782
AA Change: R97*
SMART Domains Protein: ENSMUSP00000113424
Gene: ENSMUSG00000015850
AA Change: R97*

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
Meta Mutation Damage Score 0.9711 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 97.9%
  • 20x: 96.0%
Validation Efficiency 100% (56/56)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca G A 11: 84,202,129 (GRCm39) A196T probably damaging Het
Adgrv1 T C 13: 81,553,465 (GRCm39) I5470V probably benign Het
Afg3l2 T C 18: 67,538,497 (GRCm39) T754A possibly damaging Het
Agfg1 T C 1: 82,864,117 (GRCm39) F395S probably damaging Het
Ahnak A G 19: 8,990,212 (GRCm39) probably benign Het
Alkbh2 T C 5: 114,262,014 (GRCm39) K239E possibly damaging Het
Ankmy1 A T 1: 92,827,290 (GRCm39) C87* probably null Het
Apob A G 12: 8,039,191 (GRCm39) I461V probably damaging Het
Arap1 C T 7: 101,034,121 (GRCm39) P188S possibly damaging Het
Atp12a G A 14: 56,605,870 (GRCm39) E64K probably damaging Het
Brca1 A T 11: 101,416,192 (GRCm39) H647Q possibly damaging Het
Cachd1 A G 4: 100,840,498 (GRCm39) probably benign Het
Cep57 A T 9: 13,720,039 (GRCm39) V429D possibly damaging Het
Cfap299 T C 5: 98,714,420 (GRCm39) probably benign Het
Dip2a T C 10: 76,128,266 (GRCm39) probably benign Het
Dmxl2 A T 9: 54,353,696 (GRCm39) N757K probably damaging Het
Dock7 G A 4: 98,833,432 (GRCm39) T1953I possibly damaging Het
Ebf3 T C 7: 136,826,932 (GRCm39) T111A probably damaging Het
Ercc4 T C 16: 12,948,010 (GRCm39) I319T probably damaging Het
Fat1 T C 8: 45,486,363 (GRCm39) probably benign Het
Gucy2g C T 19: 55,198,716 (GRCm39) W809* probably null Het
Hhipl1 A G 12: 108,293,980 (GRCm39) K629E probably benign Het
Hmbox1 A T 14: 65,134,223 (GRCm39) S126T probably benign Het
Htr1a A G 13: 105,580,832 (GRCm39) N24S probably benign Het
Htra3 T A 5: 35,825,700 (GRCm39) I185F probably damaging Het
Impg1 C T 9: 80,289,023 (GRCm39) D345N probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kdm7a A G 6: 39,124,128 (GRCm39) V720A probably benign Het
Kirrel3 A G 9: 34,912,293 (GRCm39) D212G possibly damaging Het
Lgals3bp A T 11: 118,283,846 (GRCm39) *139K probably null Het
Lrp11 T A 10: 7,466,060 (GRCm39) V82D probably benign Het
Mcf2l T C 8: 13,051,964 (GRCm39) Y425H probably benign Het
Mfn2 T C 4: 147,966,658 (GRCm39) N511S probably benign Het
Mical2 T C 7: 111,979,624 (GRCm39) S108P probably damaging Het
Ms4a6c C T 19: 11,448,506 (GRCm39) T13M probably benign Het
Naip2 C A 13: 100,315,893 (GRCm39) V296F probably damaging Het
Or2d36 T A 7: 106,747,294 (GRCm39) F257Y possibly damaging Het
Or51a5 A G 7: 102,771,217 (GRCm39) V254A possibly damaging Het
Or7e175 T A 9: 20,048,834 (GRCm39) C141S probably damaging Het
P3h2 T C 16: 25,815,998 (GRCm39) M172V probably benign Het
Pcolce2 T G 9: 95,552,087 (GRCm39) N73K probably benign Het
Pla2g4d A G 2: 120,111,098 (GRCm39) probably null Het
Ppfia3 A G 7: 44,997,146 (GRCm39) probably benign Het
Ptprcap A G 19: 4,206,463 (GRCm39) D182G possibly damaging Het
Rabgap1 T C 2: 37,450,481 (GRCm39) probably benign Het
Rpain G A 11: 70,865,867 (GRCm39) probably null Het
Sdk1 C T 5: 142,147,630 (GRCm39) T1754I probably damaging Het
Stag1 T A 9: 100,678,880 (GRCm39) L267Q probably damaging Het
Tex9 T C 9: 72,391,374 (GRCm39) T92A probably benign Het
Trpa1 T A 1: 14,968,387 (GRCm39) I460F possibly damaging Het
Ttn A T 2: 76,780,500 (GRCm39) Y1084N probably damaging Het
Utp6 A G 11: 79,832,694 (GRCm39) probably benign Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign 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
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
R4124:Adamtsl4 UTSW 3 95,588,982 (GRCm39) missense probably benign 0.21
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'- TCCTGAAAGATTGGCCTGCTGAAG -3'
(R):5'- TGTGACCTTGGACAACGAATAACCC -3'

Sequencing Primer
(F):5'- GCTGAAGCGCCTTTCCATTAC -3'
(R):5'- TGAACCTTGAGACACTAATTCTGACC -3'
Posted On 2013-11-07