Incidental Mutation 'IGL02440:Itln1'
ID293415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itln1
Ensembl Gene ENSMUSG00000038209
Gene Nameintelectin 1 (galactofuranose binding)
SynonymsmLfR, IntL, Itln2, Itlna
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02440
Quality Score
Status
Chromosome1
Chromosomal Location171518122-171535294 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 171531529 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 128 (A128T)
Ref Sequence ENSEMBL: ENSMUSP00000043837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043094] [ENSMUST00000168184]
Predicted Effect probably benign
Transcript: ENSMUST00000043094
AA Change: A128T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000043837
Gene: ENSMUSG00000038209
AA Change: A128T

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 benign
Transcript: ENSMUST00000168184
AA Change: A69T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126385
Gene: ENSMUSG00000038209
AA Change: A69T

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 A G 5: 67,667,434 probably benign Het
Bmt2 C T 6: 13,628,610 R358Q probably damaging Het
C2cd6 A G 1: 59,075,100 I182T probably benign Het
Calr3 T C 8: 72,431,432 T100A probably benign Het
Ccdc129 A G 6: 55,884,728 T97A possibly damaging Het
Cln3 T C 7: 126,582,782 K36R probably benign Het
Ddx25 C T 9: 35,557,678 probably benign Het
Dmxl2 A T 9: 54,406,615 V1677E probably damaging Het
Dnah10 A G 5: 124,773,819 E1684G probably damaging Het
Dnah9 A G 11: 65,955,246 S2989P probably damaging Het
F5 A T 1: 164,207,066 T1845S possibly damaging Het
Folh1 G T 7: 86,734,104 N478K probably benign Het
Gpr22 T C 12: 31,709,140 I328V probably damaging Het
Kank1 A G 19: 25,432,908 K1322R probably damaging Het
Klhdc2 A G 12: 69,303,640 Y153C probably damaging Het
Lonp2 T A 8: 86,624,185 M1K probably null Het
Mtor T A 4: 148,546,429 M2281K probably benign Het
Mtor T A 4: 148,491,647 N1378K probably benign Het
Myo1e G A 9: 70,346,740 R557H probably damaging Het
Nedd4l T C 18: 65,163,173 probably null Het
Olfr1504 A T 19: 13,887,859 M117K probably damaging Het
Olfr325 A T 11: 58,581,209 M122L probably damaging Het
Olfr373 T A 8: 72,100,530 F257I probably damaging Het
Olfr457 T C 6: 42,472,166 D4G probably benign Het
Pcdh18 T C 3: 49,744,603 probably benign Het
Phldb1 T C 9: 44,715,403 T582A probably damaging Het
Plxna2 A T 1: 194,746,150 E509D probably benign Het
Poln A T 5: 34,129,130 D231E probably damaging Het
Prex2 G A 1: 11,153,657 R735Q possibly damaging Het
Prpf40b T C 15: 99,306,866 S263P probably damaging Het
Sfmbt2 C T 2: 10,568,383 A574V probably damaging Het
Slc12a3 T C 8: 94,331,682 I152T probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,145,293 I391V probably benign Het
Tbx4 A G 11: 85,890,894 E80G probably damaging Het
Vmn2r22 A G 6: 123,637,405 Y409H probably benign Het
Zfp691 T G 4: 119,170,296 R246S probably damaging Het
Zfp846 T C 9: 20,588,500 probably benign Het
Other mutations in Itln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01732:Itln1 APN 1 171534780 missense probably benign
IGL01817:Itln1 APN 1 171529160 missense probably damaging 1.00
IGL03204:Itln1 APN 1 171530604 missense probably damaging 0.99
BB003:Itln1 UTSW 1 171531693 missense probably benign 0.23
BB013:Itln1 UTSW 1 171531693 missense probably benign 0.23
R0331:Itln1 UTSW 1 171531549 missense probably damaging 0.99
R0881:Itln1 UTSW 1 171533381 missense probably benign
R0971:Itln1 UTSW 1 171529204 missense probably damaging 0.98
R1168:Itln1 UTSW 1 171531551 nonsense probably null
R2219:Itln1 UTSW 1 171531547 missense probably damaging 1.00
R2504:Itln1 UTSW 1 171529159 missense probably damaging 1.00
R4230:Itln1 UTSW 1 171534807 missense probably benign 0.00
R4695:Itln1 UTSW 1 171531077 missense probably damaging 0.98
R5011:Itln1 UTSW 1 171533390 nonsense probably null
R5013:Itln1 UTSW 1 171533390 nonsense probably null
R5756:Itln1 UTSW 1 171516917 unclassified probably benign
R5806:Itln1 UTSW 1 171531152 missense possibly damaging 0.93
R6651:Itln1 UTSW 1 171518372 missense possibly damaging 0.56
R6703:Itln1 UTSW 1 171530583 missense probably damaging 1.00
R7128:Itln1 UTSW 1 171530575 missense possibly damaging 0.92
R7850:Itln1 UTSW 1 171530598 missense probably damaging 1.00
R7926:Itln1 UTSW 1 171531693 missense probably benign 0.23
X0019:Itln1 UTSW 1 171530571 missense probably damaging 0.99
Posted On2015-04-16