Incidental Mutation 'R6703:Itln1'
ID 528255
Institutional Source Beutler Lab
Gene Symbol Itln1
Ensembl Gene ENSMUSG00000038209
Gene Name intelectin 1 (galactofuranose binding)
Synonyms Itlna, IntL, mLfR, Itln2
MMRRC Submission 044821-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6703 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 171345690-171362862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 171358151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 199 (C199Y)
Ref Sequence ENSEMBL: ENSMUSP00000043837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043094] [ENSMUST00000168184]
AlphaFold O88310
Predicted Effect probably damaging
Transcript: ENSMUST00000043094
AA Change: C199Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043837
Gene: ENSMUSG00000038209
AA Change: C199Y

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: C87Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126385
Gene: ENSMUSG00000038209
AA Change: C87Y

DomainStartEndE-ValueType
Blast:FBG 1 108 2e-60 BLAST
SCOP:d1jc9a_ 7 68 5e-5 SMART
Meta Mutation Damage Score 0.3093 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency 99% (73/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik T A 10: 21,497,558 (GRCm39) Y66* probably null Het
Akap13 T C 7: 75,252,646 (GRCm39) S259P probably damaging Het
Aoc1 A C 6: 48,882,648 (GRCm39) T197P probably damaging Het
Blnk A T 19: 40,950,950 (GRCm39) probably null Het
Ccser1 A T 6: 61,615,495 (GRCm39) K94* probably null Het
Cfap54 T A 10: 92,704,596 (GRCm39) D2828V unknown Het
Clec4n A G 6: 123,212,553 (GRCm39) Q89R probably null Het
Col6a3 T C 1: 90,707,161 (GRCm39) D1984G unknown Het
Col6a3 C T 1: 90,720,184 (GRCm39) R1552Q probably benign Het
Csnk2a1 A G 2: 152,100,608 (GRCm39) T93A probably benign Het
Dna2 T A 10: 62,809,073 (GRCm39) I1055N possibly damaging Het
Dnm3 A G 1: 162,146,256 (GRCm39) F296L probably benign Het
Dock7 T C 4: 98,834,909 (GRCm39) E1822G probably damaging Het
Dpyd A T 3: 118,690,849 (GRCm39) probably null Het
Dyrk4 A T 6: 126,867,045 (GRCm39) I329N probably damaging Het
E4f1 C A 17: 24,666,105 (GRCm39) R231L probably damaging Het
Fat1 A G 8: 45,406,083 (GRCm39) T945A probably benign Het
Fkbp7 A T 2: 76,502,106 (GRCm39) M99K probably damaging Het
Flad1 T C 3: 89,315,897 (GRCm39) S222G probably benign Het
H1f7 C A 15: 98,155,153 (GRCm39) probably benign Het
Ighg2b T C 12: 113,268,653 (GRCm39) probably benign Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Kctd3 G A 1: 188,728,726 (GRCm39) R137C probably damaging Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Larp7 C T 3: 127,337,873 (GRCm39) M395I probably damaging Het
Lpcat3 C T 6: 124,640,185 (GRCm39) A5V probably benign Het
Lrrc43 C T 5: 123,637,532 (GRCm39) T233M possibly damaging Het
Map4k1 T G 7: 28,701,821 (GRCm39) S803A possibly damaging Het
Mef2c T A 13: 83,773,525 (GRCm39) C134S possibly damaging Het
Mgst2 T C 3: 51,572,033 (GRCm39) probably null Het
Mug2 T G 6: 122,055,653 (GRCm39) I1112R probably benign Het
Myo15a A G 11: 60,383,818 (GRCm39) I1622V probably benign Het
Ndor1 A G 2: 25,139,902 (GRCm39) F142S possibly damaging Het
Nectin3 A G 16: 46,284,205 (GRCm39) S160P probably damaging Het
Nudt16l2 T C 9: 105,021,758 (GRCm39) Y96C possibly damaging Het
Nynrin A G 14: 56,101,935 (GRCm39) T535A possibly damaging Het
Or2m13 T C 16: 19,226,122 (GRCm39) I215V probably benign Het
Or4k15 A G 14: 50,364,688 (GRCm39) Y218C probably damaging Het
Or4k42 T A 2: 111,320,454 (GRCm39) probably null Het
Or8b51 A T 9: 38,569,073 (GRCm39) I205N possibly damaging Het
Pcdh10 G A 3: 45,335,734 (GRCm39) V683M possibly damaging Het
Per2 C T 1: 91,355,671 (GRCm39) E696K probably damaging Het
Pif1 T C 9: 65,500,545 (GRCm39) V490A probably damaging Het
Plekhn1 A T 4: 156,309,250 (GRCm39) Y219N probably benign Het
Ppl T G 16: 4,907,328 (GRCm39) E989A probably damaging Het
Prkdc T G 16: 15,488,392 (GRCm39) S505A probably benign Het
Psg16 T C 7: 16,824,321 (GRCm39) L35P probably damaging Het
Ptges A G 2: 30,793,133 (GRCm39) V33A possibly damaging Het
Qser1 G A 2: 104,607,670 (GRCm39) T1416I possibly damaging Het
Rab3a A G 8: 71,209,095 (GRCm39) D77G probably damaging Het
Rtn3 A T 19: 7,412,410 (GRCm39) V788D probably damaging Het
Rtn4r T C 16: 17,969,055 (GRCm39) L161P probably damaging Het
Rtn4rl1 G A 11: 75,156,354 (GRCm39) R262Q probably benign Het
S1pr3 A T 13: 51,573,475 (GRCm39) I219F probably damaging Het
Sec23b A T 2: 144,401,109 (GRCm39) probably null Het
Senp6 A G 9: 80,029,203 (GRCm39) E522G probably damaging Het
Slc27a6 A G 18: 58,742,911 (GRCm39) N533S probably benign Het
Slc39a5 T A 10: 128,233,651 (GRCm39) D282V probably damaging Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Snx14 A G 9: 88,304,967 (GRCm39) I109T probably damaging Het
Sorl1 A T 9: 41,982,497 (GRCm39) V361E probably damaging Het
Sox5 G T 6: 143,779,191 (GRCm39) S648R probably damaging Het
Sptbn2 G A 19: 4,799,842 (GRCm39) S2161N probably benign Het
Sptbn2 C A 19: 4,799,843 (GRCm39) S2161R probably benign Het
St6galnac2 A G 11: 116,575,213 (GRCm39) S209P probably benign Het
Tmub1 T C 5: 24,651,944 (GRCm39) S7G probably benign Het
Trarg1 A T 11: 76,584,988 (GRCm39) probably null Het
Trpm5 C A 7: 142,623,055 (GRCm39) probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp438 A G 18: 5,214,044 (GRCm39) S305P probably benign Het
Zfp780b T C 7: 27,671,066 (GRCm39) T81A possibly 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
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
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'- AGGCTGCAATGGTTGGTAAATG -3'
(R):5'- CTTAGAACATTTGAGCCAAGGAAGG -3'

Sequencing Primer
(F):5'- GCAATGGTTGGTAAATGACTGCTAC -3'
(R):5'- GCAAGGGGCTAGGGGTG -3'
Posted On 2018-07-24