Incidental Mutation 'BB013:Itln1'
ID 642726
Institutional Source Beutler Lab
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 # BB013
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 171345690-171362862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 171359261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 73 (T73I)
Ref Sequence ENSEMBL: ENSMUSP00000043837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043094] [ENSMUST00000168184]
AlphaFold O88310
Predicted Effect probably benign
Transcript: ENSMUST00000043094
AA Change: T73I

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000043837
Gene: ENSMUSG00000038209
AA Change: T73I

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: T14I

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126385
Gene: ENSMUSG00000038209
AA Change: T14I

DomainStartEndE-ValueType
Blast:FBG 1 108 2e-60 BLAST
SCOP:d1jc9a_ 7 68 5e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
BC016579 C A 16: 45,449,825 (GRCm39) D198Y probably damaging Het
Cep170 A G 1: 176,588,979 (GRCm39) S549P probably damaging Het
Cnih3 T C 1: 181,277,566 (GRCm39) L96P probably damaging Het
Cnn2 T A 10: 79,829,160 (GRCm39) L168Q probably damaging Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Cnot10 A G 9: 114,446,883 (GRCm39) C398R probably damaging Het
Dcaf4 C A 12: 83,580,703 (GRCm39) Y212* probably null Het
Dmxl2 T C 9: 54,335,326 (GRCm39) T665A probably benign Het
Dnmt1 C A 9: 20,818,855 (GRCm39) A1609S unknown Het
Dzip1 T C 14: 119,120,911 (GRCm39) D682G probably benign Het
Fam76a A G 4: 132,629,405 (GRCm39) L249P probably damaging Het
Fgf10 T C 13: 118,925,752 (GRCm39) M177T probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Jkamp T C 12: 72,141,590 (GRCm39) Y197H probably damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lcor T C 19: 41,571,008 (GRCm39) F67S probably benign Het
Lmf2 G A 15: 89,236,624 (GRCm39) P514L probably damaging Het
Lmntd2 G T 7: 140,790,258 (GRCm39) P610Q probably damaging Het
Map3k3 T C 11: 106,036,548 (GRCm39) S225P probably damaging Het
Mbd5 T C 2: 49,146,335 (GRCm39) Y182H probably damaging Het
Mki67 A G 7: 135,298,869 (GRCm39) V2055A possibly damaging Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Myh8 C T 11: 67,169,732 (GRCm39) P17L possibly damaging Het
Myt1l T A 12: 29,861,651 (GRCm39) D144E unknown Het
Nfatc1 T C 18: 80,740,881 (GRCm39) Y373C probably damaging Het
Pacs2 C T 12: 113,024,372 (GRCm39) L418F probably damaging Het
Paxip1 A G 5: 27,996,207 (GRCm39) I24T unknown Het
Pdcl C T 2: 37,242,249 (GRCm39) G167E probably damaging Het
Pdcl A C 2: 37,242,251 (GRCm39) S166R probably damaging Het
Qsox1 C T 1: 155,688,533 (GRCm39) G5S unknown Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Sass6 T A 3: 116,422,419 (GRCm39) S641T possibly damaging Het
Six1 T C 12: 73,090,583 (GRCm39) N194S probably benign Het
Tagap T C 17: 8,145,770 (GRCm39) probably null Het
Tiparp T C 3: 65,460,946 (GRCm39) V645A possibly damaging Het
Tm2d2 T C 8: 25,510,480 (GRCm39) V113A probably damaging Het
Tmprss6 C A 15: 78,337,050 (GRCm39) R352L probably benign Het
Tslp A G 18: 32,950,246 (GRCm39) E105G possibly damaging Het
Ttc41 A G 10: 86,611,911 (GRCm39) E1093G probably benign Het
Ush2a G A 1: 188,460,797 (GRCm39) R2686H probably benign Het
Usp54 A T 14: 20,627,036 (GRCm39) Y541N probably damaging Het
Vmn2r125 A G 4: 156,702,988 (GRCm39) D122G probably damaging Het
Other mutations in Itln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01732:Itln1 APN 1 171,362,348 (GRCm39) missense probably benign
IGL01817:Itln1 APN 1 171,356,728 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGTCATCACTTGTGGCAGCC -3'
(R):5'- CTCAGGTGGAACCCAGTATC -3'

Sequencing Primer
(F):5'- GCCTCTGCAGACCCAAAGG -3'
(R):5'- GTATCCCCAGAAACACATGTGGTAG -3'
Posted On 2020-08-01