Incidental Mutation 'IGL02192:Tll2'
ID 283893
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 # IGL02192
Quality Score
Status
Chromosome 19
Chromosomal Location 41071192-41195274 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41074702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 937 (Y937C)
Ref Sequence ENSEMBL: ENSMUSP00000125973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025986] [ENSMUST00000169941]
AlphaFold Q9WVM6
Predicted Effect possibly damaging
Transcript: ENSMUST00000025986
AA Change: Y954C

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025986
Gene: ENSMUSG00000025013
AA Change: Y954C

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 possibly damaging
Transcript: ENSMUST00000169941
AA Change: Y937C

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125973
Gene: ENSMUSG00000025013
AA Change: Y937C

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,597,825 (GRCm39) M545K possibly damaging Het
Adamtsl1 A G 4: 86,146,253 (GRCm39) E303G probably damaging Het
Anxa13 A T 15: 58,220,628 (GRCm39) noncoding transcript Het
Ap2b1 C T 11: 83,237,592 (GRCm39) T552I possibly damaging Het
Cars1 T C 7: 143,125,325 (GRCm39) S388G probably damaging Het
Cdh18 A T 15: 23,460,402 (GRCm39) D544V probably damaging Het
Chat T C 14: 32,145,279 (GRCm39) R377G possibly damaging Het
Col14a1 A G 15: 55,225,798 (GRCm39) T154A unknown Het
Col9a1 C T 1: 24,261,068 (GRCm39) P311S probably damaging Het
Cpsf3 G T 12: 21,360,194 (GRCm39) probably benign Het
Cpsf3 G T 12: 21,360,197 (GRCm39) probably null Het
Dock8 T C 19: 25,055,569 (GRCm39) probably null Het
Eml6 A G 11: 29,755,743 (GRCm39) I837T probably benign Het
Epb41 T C 4: 131,657,028 (GRCm39) T792A probably damaging Het
Exph5 A T 9: 53,287,625 (GRCm39) R1569* probably null Het
F13b A T 1: 139,445,071 (GRCm39) T574S probably damaging Het
Fam184b G T 5: 45,695,062 (GRCm39) D727E probably benign Het
Fhip1a A G 3: 85,580,633 (GRCm39) L524P possibly damaging Het
Fhod3 T C 18: 25,189,415 (GRCm39) L619P probably damaging Het
Fsd1l A G 4: 53,647,754 (GRCm39) I66V probably benign Het
Fv1 A G 4: 147,954,712 (GRCm39) D426G possibly damaging Het
Gm3371 A T 14: 44,641,235 (GRCm39) probably benign Het
Hnf1a A T 5: 115,098,177 (GRCm39) S142T probably damaging Het
Itgb3 A G 11: 104,534,765 (GRCm39) I541V probably benign Het
Itgbl1 G T 14: 124,081,338 (GRCm39) C239F probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Larp1b G T 3: 40,921,929 (GRCm39) S116I probably benign Het
Lmtk3 A G 7: 45,443,933 (GRCm39) probably benign Het
Mapk10 T C 5: 103,137,513 (GRCm39) I235V probably damaging Het
Mctp1 C T 13: 76,879,887 (GRCm39) probably benign Het
Megf8 G A 7: 25,053,285 (GRCm39) D1819N probably damaging Het
Muc6 T C 7: 141,217,717 (GRCm39) T2254A possibly damaging Het
Nbr1 T A 11: 101,460,417 (GRCm39) S444T probably damaging Het
Ncor2 A T 5: 125,101,301 (GRCm39) D1956E probably damaging Het
Ndufaf5 T C 2: 140,030,663 (GRCm39) V183A probably benign Het
Nfasc G A 1: 132,498,219 (GRCm39) T1155M probably damaging Het
Nol12 A G 15: 78,821,374 (GRCm39) E78G probably damaging Het
Npy5r T A 8: 67,133,998 (GRCm39) H265L probably benign Het
Or10j2 T A 1: 173,098,417 (GRCm39) L225H probably damaging Het
Or8k16 G A 2: 85,520,472 (GRCm39) G233D possibly damaging Het
Pop1 A G 15: 34,529,217 (GRCm39) E749G probably benign Het
Ppil3 T C 1: 58,477,547 (GRCm39) I66V probably damaging Het
Prl4a1 C A 13: 28,202,554 (GRCm39) T43K possibly damaging Het
Prop1 A G 11: 50,844,113 (GRCm39) probably benign Het
Qrsl1 A T 10: 43,761,010 (GRCm39) I218N probably damaging Het
Rbm22 T A 18: 60,697,484 (GRCm39) M63K possibly damaging Het
Rictor T C 15: 6,815,895 (GRCm39) S1056P probably benign Het
Rps6kb2 T C 19: 4,207,587 (GRCm39) T388A probably damaging Het
Slc7a5 A G 8: 122,613,129 (GRCm39) probably benign Het
Sp100 A T 1: 85,635,722 (GRCm39) D509V probably damaging Het
Spata18 G T 5: 73,829,861 (GRCm39) probably null Het
Sspo C A 6: 48,436,502 (GRCm39) T1254K possibly damaging Het
Stk19 A G 17: 35,051,134 (GRCm39) probably benign Het
Taar8b T A 10: 23,967,262 (GRCm39) I311F probably damaging Het
Themis2 C A 4: 132,510,658 (GRCm39) probably null Het
Trim34a T A 7: 103,896,939 (GRCm39) M1K probably null Het
Usp50 G A 2: 126,619,958 (GRCm39) T118I possibly damaging Het
Vps13d G A 4: 144,875,428 (GRCm39) S1693F probably benign Het
Vps16 T A 2: 130,282,852 (GRCm39) I467N probably damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null 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
IGL02146:Tll2 APN 19 41,086,276 (GRCm39) missense probably benign 0.00
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