Incidental Mutation 'IGL01817:Itln1'
ID 154416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itln1
Ensembl Gene ENSMUSG00000038209
Gene Name intelectin 1 (galactofuranose binding)
Synonyms Itlna, IntL, mLfR, Itln2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01817
Quality Score
Status
Chromosome 1
Chromosomal Location 171345690-171362862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 171356728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 138 (L138F)
Ref Sequence ENSEMBL: ENSMUSP00000126385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043094] [ENSMUST00000168184]
AlphaFold O88310
Predicted Effect probably benign
Transcript: ENSMUST00000043094
AA Change: L250F

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000043837
Gene: ENSMUSG00000038209
AA Change: L250F

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
FBG 36 211 3.77e0 SMART
Blast:FBG 230 312 8e-47 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000168184
AA Change: L138F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126385
Gene: ENSMUSG00000038209
AA Change: L138F

DomainStartEndE-ValueType
Blast:FBG 1 108 2e-60 BLAST
SCOP:d1jc9a_ 7 68 5e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Phenotypic analysis of mice homozygous for a targeted null allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Eif4g3 T C 4: 137,847,673 (GRCm39) V198A probably benign Het
Exoc6b T C 6: 85,046,320 (GRCm39) E23G probably damaging Het
Gm4847 C A 1: 166,462,471 (GRCm39) D340Y probably damaging Het
Gtf3c5 T C 2: 28,459,301 (GRCm39) probably null Het
Ighv1-13 G A 12: 114,594,600 (GRCm39) probably benign Het
Ighv1-43 C A 12: 114,909,714 (GRCm39) E69D probably benign Het
Ighv1-43 T C 12: 114,909,715 (GRCm39) E69G probably benign Het
Nme1nme2 G T 11: 93,846,447 (GRCm39) probably benign Het
Nsun5 G T 5: 135,398,893 (GRCm39) G19V probably damaging Het
Or4a78 A G 2: 89,497,348 (GRCm39) I294T probably benign Het
Or4c118 A G 2: 88,974,702 (GRCm39) F222L probably benign Het
Or51ai2 A G 7: 103,587,030 (GRCm39) I148V probably benign Het
Per1 T C 11: 68,995,025 (GRCm39) L615P probably damaging Het
Pibf1 C A 14: 99,423,908 (GRCm39) probably benign Het
Pik3r4 T A 9: 105,528,021 (GRCm39) I458N probably damaging Het
Ppp1r14a T C 7: 28,992,622 (GRCm39) V108A probably benign Het
Scamp2 T A 9: 57,488,903 (GRCm39) C201* probably null Het
Speer1c C A 5: 10,295,297 (GRCm39) A48S probably damaging Het
Stambpl1 G T 19: 34,211,393 (GRCm39) L151F possibly damaging Het
Tent5c T C 3: 100,380,171 (GRCm39) Y195C probably damaging Het
Vmn1r64 G A 7: 5,887,222 (GRCm39) T107I probably damaging Het
Other mutations in Itln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01732:Itln1 APN 1 171,362,348 (GRCm39) missense probably benign
IGL02440:Itln1 APN 1 171,359,097 (GRCm39) missense probably benign 0.07
IGL03204:Itln1 APN 1 171,358,172 (GRCm39) missense probably damaging 0.99
BB003:Itln1 UTSW 1 171,359,261 (GRCm39) missense probably benign 0.23
BB013:Itln1 UTSW 1 171,359,261 (GRCm39) missense probably benign 0.23
R0331:Itln1 UTSW 1 171,359,117 (GRCm39) missense probably damaging 0.99
R0881:Itln1 UTSW 1 171,360,949 (GRCm39) missense probably benign
R0971:Itln1 UTSW 1 171,356,772 (GRCm39) missense probably damaging 0.98
R1168:Itln1 UTSW 1 171,359,119 (GRCm39) nonsense probably null
R2219:Itln1 UTSW 1 171,359,115 (GRCm39) missense probably damaging 1.00
R2504:Itln1 UTSW 1 171,356,727 (GRCm39) missense probably damaging 1.00
R4230:Itln1 UTSW 1 171,362,375 (GRCm39) missense probably benign 0.00
R4695:Itln1 UTSW 1 171,358,645 (GRCm39) missense probably damaging 0.98
R5011:Itln1 UTSW 1 171,360,958 (GRCm39) nonsense probably null
R5013:Itln1 UTSW 1 171,360,958 (GRCm39) nonsense probably null
R5756:Itln1 UTSW 1 171,344,485 (GRCm39) unclassified probably benign
R5806:Itln1 UTSW 1 171,358,720 (GRCm39) missense possibly damaging 0.93
R6651:Itln1 UTSW 1 171,345,940 (GRCm39) missense possibly damaging 0.56
R6703:Itln1 UTSW 1 171,358,151 (GRCm39) missense probably damaging 1.00
R7128:Itln1 UTSW 1 171,358,143 (GRCm39) missense possibly damaging 0.92
R7850:Itln1 UTSW 1 171,358,166 (GRCm39) missense probably damaging 1.00
R7926:Itln1 UTSW 1 171,359,261 (GRCm39) missense probably benign 0.23
R8694:Itln1 UTSW 1 171,359,279 (GRCm39) missense probably damaging 1.00
R9627:Itln1 UTSW 1 171,360,985 (GRCm39) missense probably benign 0.01
X0019:Itln1 UTSW 1 171,358,139 (GRCm39) missense probably damaging 0.99
Posted On 2014-02-04