Incidental Mutation 'IGL02146:Tll2'
ID 281789
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tll2
Ensembl Gene ENSMUSG00000025013
Gene Name tolloid-like 2
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # IGL02146
Quality Score
Status
Chromosome 19
Chromosomal Location 41071192-41195274 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 41086276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 651 (V651L)
Ref Sequence ENSEMBL: ENSMUSP00000025986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025986] [ENSMUST00000169941]
AlphaFold Q9WVM6
Predicted Effect probably benign
Transcript: ENSMUST00000025986
AA Change: V651L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: V651L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
ZnMc 152 294 1.15e-54 SMART
CUB 348 460 7.69e-44 SMART
CUB 461 573 8.69e-52 SMART
EGF_CA 573 614 1.26e-11 SMART
CUB 617 729 3.99e-51 SMART
EGF_CA 729 769 5.92e-8 SMART
CUB 773 885 3.08e-43 SMART
CUB 886 1002 2.25e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169941
AA Change: V634L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: V634L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
ZnMc 152 294 1.15e-54 SMART
CUB 331 443 7.69e-44 SMART
CUB 444 556 8.69e-52 SMART
EGF_CA 556 597 1.26e-11 SMART
CUB 600 712 3.99e-51 SMART
EGF_CA 712 752 5.92e-8 SMART
CUB 756 868 3.08e-43 SMART
CUB 869 985 2.25e-36 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in increased muscle weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,164,023 (GRCm39) C784R possibly damaging Het
Akp3 A T 1: 87,054,297 (GRCm39) D278V probably benign Het
Atxn7l1 G T 12: 33,418,030 (GRCm39) R730S probably benign Het
Bag6 A G 17: 35,355,191 (GRCm39) T30A probably damaging Het
Blk G T 14: 63,611,648 (GRCm39) P429H probably damaging Het
Bmp2k T A 5: 97,212,689 (GRCm39) M524K unknown Het
Bst1 T A 5: 43,983,678 (GRCm39) H221Q probably damaging Het
Ces2g T C 8: 105,693,576 (GRCm39) I419T possibly damaging Het
Cnep1r1 T C 8: 88,856,326 (GRCm39) V34A probably benign Het
Ctnnbl1 A G 2: 157,661,414 (GRCm39) E308G probably damaging Het
Cyp20a1 A T 1: 60,410,410 (GRCm39) K237I possibly damaging Het
Dlg5 T C 14: 24,252,429 (GRCm39) T104A probably damaging Het
Dnaaf11 C T 15: 66,361,374 (GRCm39) W42* probably null Het
Dnaaf11 C A 15: 66,361,375 (GRCm39) W42L probably benign Het
Dnah9 C T 11: 65,818,526 (GRCm39) V3271M probably damaging Het
Eed T A 7: 89,618,803 (GRCm39) N204Y possibly damaging Het
Fat3 A G 9: 15,910,878 (GRCm39) V1708A probably benign Het
Fcrl6 T C 1: 172,426,264 (GRCm39) T178A probably benign Het
Galnt4 A C 10: 98,945,563 (GRCm39) K429N possibly damaging Het
Ints6 T A 14: 62,996,709 (GRCm39) T94S possibly damaging Het
Iqsec3 A T 6: 121,360,916 (GRCm39) S981T probably damaging Het
Itga9 T A 9: 118,663,400 (GRCm39) S146T possibly damaging Het
Itpr3 A G 17: 27,336,249 (GRCm39) Y2325C probably damaging Het
Kng2 T A 16: 22,806,582 (GRCm39) Q539L probably damaging Het
Lmtk3 T A 7: 45,444,371 (GRCm39) probably benign Het
Map1a T C 2: 121,129,927 (GRCm39) Y248H probably damaging Het
Mroh1 A G 15: 76,318,879 (GRCm39) probably benign Het
Mroh2b T C 15: 4,980,776 (GRCm39) probably null Het
Myo18b A T 5: 112,991,151 (GRCm39) M942K probably damaging Het
Myzap T A 9: 71,471,730 (GRCm39) T94S probably benign Het
Nebl C A 2: 17,353,679 (GRCm39) R957S probably damaging Het
Nexn A T 3: 151,952,885 (GRCm39) D278E probably benign Het
Nlgn1 A T 3: 25,966,846 (GRCm39) N222K probably damaging Het
Or6c76 T A 10: 129,612,727 (GRCm39) probably benign Het
Or8d1 G A 9: 38,766,654 (GRCm39) A99T probably benign Het
Osbpl6 A T 2: 76,380,094 (GRCm39) R79S possibly damaging Het
Phip T C 9: 82,763,771 (GRCm39) I1268M probably benign Het
Pkd2 G T 5: 104,637,157 (GRCm39) R590L probably damaging Het
Reg2 G A 6: 78,382,568 (GRCm39) probably benign Het
Scaf1 A T 7: 44,662,934 (GRCm39) D26E probably damaging Het
Ska1 A G 18: 74,329,981 (GRCm39) I253T possibly damaging Het
Slc11a2 T C 15: 100,299,169 (GRCm39) N443D probably damaging Het
Slc6a12 A T 6: 121,330,460 (GRCm39) T155S probably benign Het
Slit3 A G 11: 35,125,675 (GRCm39) K118R possibly damaging Het
Snap23 T G 2: 120,429,792 (GRCm39) N212K probably damaging Het
Snx13 T A 12: 35,151,078 (GRCm39) D346E probably benign Het
Sumf1 C A 6: 108,150,392 (GRCm39) probably null Het
Susd2 T C 10: 75,474,267 (GRCm39) N479S possibly damaging Het
Tiam1 A G 16: 89,646,569 (GRCm39) I821T probably benign Het
Vmn2r1 A G 3: 64,012,104 (GRCm39) D655G probably benign Het
Vmn2r72 T C 7: 85,387,170 (GRCm39) Y798C probably damaging Het
Vps13b A C 15: 35,646,479 (GRCm39) I1528L probably benign Het
Wdtc1 G A 4: 133,029,076 (GRCm39) L337F probably benign Het
Zfp128 A C 7: 12,623,959 (GRCm39) K109T possibly damaging Het
Other mutations in Tll2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01555:Tll2 APN 19 41,074,805 (GRCm39) missense probably benign 0.01
IGL02028:Tll2 APN 19 41,087,088 (GRCm39) nonsense probably null
IGL02192:Tll2 APN 19 41,074,702 (GRCm39) missense possibly damaging 0.73
IGL02544:Tll2 APN 19 41,124,404 (GRCm39) missense probably damaging 1.00
PIT4677001:Tll2 UTSW 19 41,118,997 (GRCm39) missense probably benign 0.14
R0141:Tll2 UTSW 19 41,086,351 (GRCm39) missense probably damaging 1.00
R0372:Tll2 UTSW 19 41,171,752 (GRCm39) critical splice acceptor site probably null
R0393:Tll2 UTSW 19 41,077,265 (GRCm39) missense possibly damaging 0.95
R0402:Tll2 UTSW 19 41,087,132 (GRCm39) missense possibly damaging 0.56
R0613:Tll2 UTSW 19 41,093,429 (GRCm39) missense probably damaging 0.97
R0756:Tll2 UTSW 19 41,108,667 (GRCm39) missense probably damaging 1.00
R0757:Tll2 UTSW 19 41,108,667 (GRCm39) missense probably damaging 1.00
R0790:Tll2 UTSW 19 41,092,289 (GRCm39) missense probably damaging 0.98
R0834:Tll2 UTSW 19 41,101,512 (GRCm39) missense probably damaging 1.00
R0843:Tll2 UTSW 19 41,116,902 (GRCm39) splice site probably null
R1014:Tll2 UTSW 19 41,092,290 (GRCm39) missense probably damaging 1.00
R1178:Tll2 UTSW 19 41,081,286 (GRCm39) missense probably damaging 1.00
R1233:Tll2 UTSW 19 41,084,423 (GRCm39) missense possibly damaging 0.79
R1364:Tll2 UTSW 19 41,108,667 (GRCm39) missense probably damaging 1.00
R1367:Tll2 UTSW 19 41,108,667 (GRCm39) missense probably damaging 1.00
R1368:Tll2 UTSW 19 41,108,667 (GRCm39) missense probably damaging 1.00
R1519:Tll2 UTSW 19 41,074,839 (GRCm39) missense probably benign 0.17
R1894:Tll2 UTSW 19 41,077,110 (GRCm39) critical splice donor site probably null
R1896:Tll2 UTSW 19 41,101,498 (GRCm39) missense probably benign 0.44
R1917:Tll2 UTSW 19 41,116,936 (GRCm39) missense possibly damaging 0.83
R2170:Tll2 UTSW 19 41,171,714 (GRCm39) missense probably damaging 1.00
R4433:Tll2 UTSW 19 41,109,787 (GRCm39) missense probably benign 0.03
R4617:Tll2 UTSW 19 41,087,075 (GRCm39) missense probably benign 0.31
R4831:Tll2 UTSW 19 41,118,951 (GRCm39) missense probably damaging 1.00
R5057:Tll2 UTSW 19 41,105,705 (GRCm39) missense probably benign 0.02
R5119:Tll2 UTSW 19 41,118,948 (GRCm39) missense possibly damaging 0.48
R5194:Tll2 UTSW 19 41,084,336 (GRCm39) missense probably damaging 1.00
R5280:Tll2 UTSW 19 41,105,696 (GRCm39) missense possibly damaging 0.87
R5602:Tll2 UTSW 19 41,093,420 (GRCm39) missense possibly damaging 0.63
R5800:Tll2 UTSW 19 41,093,373 (GRCm39) missense probably benign 0.10
R6223:Tll2 UTSW 19 41,124,391 (GRCm39) missense possibly damaging 0.54
R7047:Tll2 UTSW 19 41,074,679 (GRCm39) missense probably damaging 0.99
R7155:Tll2 UTSW 19 41,105,723 (GRCm39) missense possibly damaging 0.72
R7213:Tll2 UTSW 19 41,108,666 (GRCm39) missense probably damaging 0.97
R7231:Tll2 UTSW 19 41,074,673 (GRCm39) missense probably benign 0.02
R7390:Tll2 UTSW 19 41,108,608 (GRCm39) critical splice donor site probably null
R7414:Tll2 UTSW 19 41,092,268 (GRCm39) missense probably damaging 0.98
R7757:Tll2 UTSW 19 41,084,447 (GRCm39) missense probably damaging 1.00
R8165:Tll2 UTSW 19 41,077,313 (GRCm39) missense possibly damaging 0.79
R8418:Tll2 UTSW 19 41,081,276 (GRCm39) missense probably damaging 1.00
R8788:Tll2 UTSW 19 41,109,814 (GRCm39) missense probably benign 0.00
R8811:Tll2 UTSW 19 41,195,012 (GRCm39) missense probably benign
R9227:Tll2 UTSW 19 41,093,436 (GRCm39) missense probably benign 0.34
R9230:Tll2 UTSW 19 41,093,436 (GRCm39) missense probably benign 0.34
R9280:Tll2 UTSW 19 41,077,309 (GRCm39) missense possibly damaging 0.83
R9282:Tll2 UTSW 19 41,074,772 (GRCm39) missense probably benign
R9382:Tll2 UTSW 19 41,116,997 (GRCm39) missense probably benign 0.04
R9715:Tll2 UTSW 19 41,092,238 (GRCm39) missense probably damaging 0.99
R9760:Tll2 UTSW 19 41,119,084 (GRCm39) missense probably damaging 1.00
R9801:Tll2 UTSW 19 41,194,993 (GRCm39) missense probably benign
X0027:Tll2 UTSW 19 41,171,742 (GRCm39) missense probably damaging 1.00
Z1177:Tll2 UTSW 19 41,081,173 (GRCm39) missense probably benign 0.14
Posted On 2015-04-16