Incidental Mutation 'IGL02105:Adamtsl4'
ID279946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamtsl4
Ensembl Gene ENSMUSG00000015850
Gene NameADAMTS-like 4
SynonymsTsrc1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02105
Quality Score
Status
Chromosome3
Chromosomal Location95676201-95687917 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 95680064 bp
ZygosityHeterozygous
Amino Acid Change Proline to Histidine at position 734 (P734H)
Ref Sequence ENSEMBL: ENSMUSP00000113424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015994] [ENSMUST00000117782] [ENSMUST00000148854]
Predicted Effect probably damaging
Transcript: ENSMUST00000015994
AA Change: P734H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000015994
Gene: ENSMUSG00000015850
AA Change: P734H

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 damaging
Transcript: ENSMUST00000117782
AA Change: P734H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113424
Gene: ENSMUSG00000015850
AA Change: P734H

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
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfip2 A T 7: 105,639,383 I14N probably damaging Het
Asap3 G T 4: 136,228,474 probably null Het
Atg2a T A 19: 6,250,403 probably benign Het
Bbs12 T C 3: 37,320,147 L248P probably damaging Het
Brd3 A T 2: 27,459,776 I255N probably damaging Het
Ccdc141 A G 2: 77,049,577 probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd9 T A 8: 90,932,488 D25E probably damaging Het
Cobl T C 11: 12,249,651 K1325R probably damaging Het
Dnmt1 T A 9: 20,907,882 E1486V unknown Het
Dock2 T C 11: 34,714,525 N256D probably damaging Het
Dpp3 G A 19: 4,916,771 S408L probably damaging Het
Dync2h1 C T 9: 7,075,892 G2992R probably damaging Het
Eef1a1 T C 9: 78,480,551 D35G probably benign Het
Fntb A G 12: 76,862,489 K84E probably benign Het
Gfi1 A G 5: 107,723,722 probably null Het
Glb1l3 T A 9: 26,818,527 I516F probably damaging Het
Hltf A G 3: 20,092,757 N560S probably damaging Het
Kif21b A G 1: 136,171,303 N1443S probably benign Het
Knl1 T A 2: 119,071,808 I1330K probably benign Het
Krt20 C T 11: 99,438,001 V33M probably benign Het
Lao1 A G 4: 118,968,443 T487A probably damaging Het
Larp4 A G 15: 99,986,071 E63G probably damaging Het
Lrp1 A G 10: 127,544,579 V3901A probably damaging Het
Lrrc17 A G 5: 21,570,257 I272M probably benign Het
Malrd1 A T 2: 16,127,863 Q1865L unknown Het
Mtg1 T C 7: 140,150,206 L305P probably damaging Het
Mylk4 T A 13: 32,720,562 E427D probably benign Het
Myom1 G T 17: 71,047,716 probably benign Het
Nbeal1 A G 1: 60,253,501 E1104G probably damaging Het
Obox5 A G 7: 15,758,575 M152V probably benign Het
Olfm2 C T 9: 20,672,180 V203M probably damaging Het
Olfr166 T G 16: 19,487,261 L141R probably benign Het
Olfr876 A T 9: 37,804,595 H228L possibly damaging Het
Pf4 A G 5: 90,773,255 S105G probably damaging Het
Phlpp2 T A 8: 109,904,408 I228N probably damaging Het
Sall1 T G 8: 89,032,568 S303R probably damaging Het
Setd5 A G 6: 113,117,580 E486G probably damaging Het
Slc9a5 C T 8: 105,349,443 P23S probably damaging Het
Tbc1d9b T A 11: 50,149,826 I390N probably damaging Het
Trp53 T C 11: 69,588,503 V169A probably damaging Het
Usp4 A G 9: 108,384,932 D791G probably damaging Het
Vmn1r76 A G 7: 11,930,490 S266P possibly damaging Het
Vmn2r27 A G 6: 124,197,349 probably benign Het
Xirp1 C T 9: 120,016,997 G940E probably damaging Het
Zfp407 A T 18: 84,562,720 C89* probably null Het
Other mutations in Adamtsl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Adamtsl4 APN 3 95677533 missense probably benign 0.22
IGL01685:Adamtsl4 APN 3 95684595 missense possibly damaging 0.93
IGL01707:Adamtsl4 APN 3 95683991 missense probably benign 0.39
IGL02545:Adamtsl4 APN 3 95683374 nonsense probably null
IGL03089:Adamtsl4 APN 3 95677246 missense probably damaging 1.00
R0099:Adamtsl4 UTSW 3 95684139 missense probably benign 0.00
R0718:Adamtsl4 UTSW 3 95679608 missense possibly damaging 0.49
R0962:Adamtsl4 UTSW 3 95684488 nonsense probably null
R1157:Adamtsl4 UTSW 3 95683661 missense possibly damaging 0.88
R1434:Adamtsl4 UTSW 3 95680784 missense probably damaging 1.00
R1486:Adamtsl4 UTSW 3 95681856 missense probably benign 0.23
R1579:Adamtsl4 UTSW 3 95685497 start gained probably benign
R1703:Adamtsl4 UTSW 3 95677614 missense probably damaging 1.00
R1757:Adamtsl4 UTSW 3 95677942 missense probably benign 0.00
R2018:Adamtsl4 UTSW 3 95681102 missense probably damaging 1.00
R2108:Adamtsl4 UTSW 3 95681047 missense probably damaging 1.00
R3889:Adamtsl4 UTSW 3 95680857 missense probably damaging 1.00
R4062:Adamtsl4 UTSW 3 95677554 missense probably benign 0.00
R4063:Adamtsl4 UTSW 3 95677554 missense probably benign 0.00
R4124:Adamtsl4 UTSW 3 95681672 missense probably benign 0.21
R4128:Adamtsl4 UTSW 3 95681672 missense probably benign 0.21
R4432:Adamtsl4 UTSW 3 95681759 unclassified probably null
R4433:Adamtsl4 UTSW 3 95681759 unclassified probably null
R4643:Adamtsl4 UTSW 3 95684619 missense possibly damaging 0.90
R4694:Adamtsl4 UTSW 3 95679745 missense probably damaging 1.00
R4719:Adamtsl4 UTSW 3 95679586 critical splice donor site probably null
R4929:Adamtsl4 UTSW 3 95678005 missense probably damaging 1.00
R5044:Adamtsl4 UTSW 3 95681650 critical splice donor site probably null
R5212:Adamtsl4 UTSW 3 95677670 missense probably damaging 1.00
R5234:Adamtsl4 UTSW 3 95680920 missense probably benign 0.00
R5268:Adamtsl4 UTSW 3 95680163 missense probably damaging 0.98
R5473:Adamtsl4 UTSW 3 95679993 missense probably damaging 0.98
R5509:Adamtsl4 UTSW 3 95681357 missense probably benign 0.00
R5566:Adamtsl4 UTSW 3 95685455 critical splice donor site probably null
R5891:Adamtsl4 UTSW 3 95682313 missense possibly damaging 0.95
R5906:Adamtsl4 UTSW 3 95680784 missense probably damaging 1.00
R6224:Adamtsl4 UTSW 3 95681729 missense probably damaging 1.00
R6530:Adamtsl4 UTSW 3 95681054 missense probably benign 0.00
R6861:Adamtsl4 UTSW 3 95680884 missense probably damaging 1.00
R7199:Adamtsl4 UTSW 3 95680809 missense probably benign 0.00
X0028:Adamtsl4 UTSW 3 95676964 nonsense probably null
Posted On2015-04-16