Incidental Mutation 'R7265:Lctl'
ID 564878
Institutional Source Beutler Lab
Gene Symbol Lctl
Ensembl Gene ENSMUSG00000032401
Gene Name lactase-like
Synonyms KLPH, E130104I05Rik
MMRRC Submission 045355-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R7265 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 64024429-64045400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64034203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 281 (Y281N)
Ref Sequence ENSEMBL: ENSMUSP00000034969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034969] [ENSMUST00000118215] [ENSMUST00000124020]
AlphaFold Q8K1F9
Predicted Effect probably damaging
Transcript: ENSMUST00000034969
AA Change: Y281N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034969
Gene: ENSMUSG00000032401
AA Change: Y281N

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Glyco_hydro_1 32 502 1.7e-161 PFAM
transmembrane domain 540 562 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118215
AA Change: Y122N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112979
Gene: ENSMUSG00000032401
AA Change: Y122N

DomainStartEndE-ValueType
Pfam:Glyco_hydro_1 1 343 5.8e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124020
SMART Domains Protein: ENSMUSP00000120815
Gene: ENSMUSG00000032401

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Glyco_hydro_1 32 235 2.3e-84 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of family 1 glycosidases. Glycosidases are enzymes that hydrolyze glycosidic bonds and are classified into families based on primary amino acid sequence. Most members of family 1 have two conserved glutamic acid residues, which are required for enzymatic activity. The mouse ortholog of this protein has been characterized and has a domain structure of an N-terminal signal peptide, glycosidase domain, transmembrane domain, and a short cytoplasmic tail. It lacks one of the conserved glutamic acid residues important for catalysis, and its function remains to be determined (PMID: 12084582). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous null mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb3 A G 11: 30,948,495 (GRCm39) E57G probably benign Het
B3glct A G 5: 149,632,785 (GRCm39) D45G probably benign Het
BC034090 C A 1: 155,101,073 (GRCm39) C397F probably damaging Het
Bicd1 A G 6: 149,415,374 (GRCm39) K696E probably damaging Het
Btnl4 C T 17: 34,694,868 (GRCm39) C15Y probably benign Het
Cabin1 T C 10: 75,557,257 (GRCm39) N300S Het
Chia1 T A 3: 106,036,239 (GRCm39) L273Q probably damaging Het
Coq2 A G 5: 100,808,136 (GRCm39) S222P possibly damaging Het
Dgkb T C 12: 38,234,931 (GRCm39) V432A possibly damaging Het
Dpp3 A G 19: 4,973,797 (GRCm39) F92S probably damaging Het
Elapor2 T C 5: 9,496,975 (GRCm39) V813A possibly damaging Het
Emcn T C 3: 137,122,839 (GRCm39) S183P probably damaging Het
Emcn T A 3: 137,124,837 (GRCm39) W217R probably damaging Het
Enpp2 A C 15: 54,773,429 (GRCm39) probably null Het
Epb41 T C 4: 131,695,145 (GRCm39) E14G unknown Het
Fhip1b G T 7: 105,033,432 (GRCm39) R609S probably benign Het
Grk4 A G 5: 34,873,608 (GRCm39) R225G probably damaging Het
Insl6 A T 19: 29,298,945 (GRCm39) W156R possibly damaging Het
Ints3 A T 3: 90,311,290 (GRCm39) probably null Het
Jarid2 G A 13: 45,055,748 (GRCm39) G318D probably benign Het
Kif16b A T 2: 142,556,650 (GRCm39) L596H probably damaging Het
Letm1 A T 5: 33,935,992 (GRCm39) C34S possibly damaging Het
Lrrc32 T C 7: 98,148,644 (GRCm39) S475P probably damaging Het
Lrrc37a T A 11: 103,389,767 (GRCm39) D1886V probably benign Het
Macf1 A T 4: 123,301,670 (GRCm39) I944K probably benign Het
Mark4 T C 7: 19,185,650 (GRCm39) D28G probably benign Het
Mecom C A 3: 30,034,282 (GRCm39) A465S possibly damaging Het
Muc16 A G 9: 18,567,768 (GRCm39) S1584P unknown Het
Mycbp2 A G 14: 103,434,679 (GRCm39) probably null Het
Myo18b G A 5: 112,959,938 (GRCm39) R1372W probably damaging Het
Myo1c T C 11: 75,560,616 (GRCm39) I706T possibly damaging Het
Myo1g T C 11: 6,460,933 (GRCm39) T704A possibly damaging Het
Nwd1 A G 8: 73,419,556 (GRCm39) K914E probably benign Het
Or5ac20 T A 16: 59,104,287 (GRCm39) D191V probably damaging Het
Or8b101 A T 9: 38,020,227 (GRCm39) I77L possibly damaging Het
Or8k23 C T 2: 86,186,088 (GRCm39) V213I probably benign Het
Otub2 C T 12: 103,366,480 (GRCm39) S99L probably damaging Het
Pak5 G A 2: 135,943,105 (GRCm39) S345L probably benign Het
Pcdhb20 A T 18: 37,638,616 (GRCm39) I381F possibly damaging Het
Pcdhga7 A G 18: 37,849,969 (GRCm39) T659A probably damaging Het
Phf8-ps G A 17: 33,285,971 (GRCm39) T277I probably damaging Het
Pik3c2a T A 7: 115,987,321 (GRCm39) K533N probably damaging Het
Pkd1l1 T A 11: 8,879,402 (GRCm39) Q933L Het
Ppp4r3a A T 12: 101,019,770 (GRCm39) M395K possibly damaging Het
Pramel11 C A 4: 143,621,991 (GRCm39) V455L probably benign Het
Ptpn20 A G 14: 33,336,481 (GRCm39) T107A probably benign Het
Scaf8 T A 17: 3,227,900 (GRCm39) D376E unknown Het
Scn11a C A 9: 119,644,331 (GRCm39) C143F probably damaging Het
Sctr G A 1: 119,949,955 (GRCm39) R48Q probably benign Het
Sec13 A T 6: 113,712,097 (GRCm39) Y79* probably null Het
Sez6 T A 11: 77,853,691 (GRCm39) I287N probably damaging Het
Slc52a3 T A 2: 151,846,336 (GRCm39) I99K possibly damaging Het
Slco4c1 T G 1: 96,799,518 (GRCm39) H106P probably damaging Het
Tada2b A G 5: 36,633,952 (GRCm39) Y209H probably damaging Het
Tas1r2 T A 4: 139,396,963 (GRCm39) D796E probably benign Het
Tdrd12 A T 7: 35,187,147 (GRCm39) M581K Het
Thnsl1 A G 2: 21,217,269 (GRCm39) E341G probably damaging Het
Tlk2 C T 11: 105,075,070 (GRCm39) R11* probably null Het
Tmco6 T C 18: 36,872,396 (GRCm39) probably null Het
Trmt44 A T 5: 35,721,647 (GRCm39) H505Q probably benign Het
Trpc1 T C 9: 95,590,328 (GRCm39) M710V probably benign Het
Ttc21b T C 2: 66,040,517 (GRCm39) E858G possibly damaging Het
Twsg1 C T 17: 66,236,782 (GRCm39) D83N possibly damaging Het
Umod G T 7: 119,065,296 (GRCm39) Q578K probably benign Het
Vmn2r6 T C 3: 64,464,195 (GRCm39) N213S probably benign Het
Vmn2r88 G A 14: 51,655,776 (GRCm39) V662I Het
Zfp414 C A 17: 33,850,253 (GRCm39) D217E probably benign Het
Other mutations in Lctl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Lctl APN 9 64,040,411 (GRCm39) nonsense probably null
IGL03066:Lctl APN 9 64,025,017 (GRCm39) start codon destroyed probably null 0.66
IGL03302:Lctl APN 9 64,042,130 (GRCm39) unclassified probably benign
R0077:Lctl UTSW 9 64,029,389 (GRCm39) start codon destroyed probably null 0.64
R0137:Lctl UTSW 9 64,024,980 (GRCm39) utr 5 prime probably benign
R0335:Lctl UTSW 9 64,026,169 (GRCm39) missense probably benign 0.00
R0391:Lctl UTSW 9 64,029,596 (GRCm39) splice site probably benign
R1740:Lctl UTSW 9 64,040,389 (GRCm39) missense probably damaging 1.00
R1866:Lctl UTSW 9 64,039,003 (GRCm39) missense probably damaging 1.00
R2160:Lctl UTSW 9 64,025,049 (GRCm39) missense probably benign 0.02
R2867:Lctl UTSW 9 64,045,150 (GRCm39) missense probably benign 0.23
R2867:Lctl UTSW 9 64,045,150 (GRCm39) missense probably benign 0.23
R3605:Lctl UTSW 9 64,040,475 (GRCm39) missense probably damaging 1.00
R3607:Lctl UTSW 9 64,040,475 (GRCm39) missense probably damaging 1.00
R4585:Lctl UTSW 9 64,038,882 (GRCm39) missense probably damaging 1.00
R4861:Lctl UTSW 9 64,027,045 (GRCm39) missense possibly damaging 0.55
R4861:Lctl UTSW 9 64,027,045 (GRCm39) missense possibly damaging 0.55
R5249:Lctl UTSW 9 64,045,196 (GRCm39) missense probably benign
R7021:Lctl UTSW 9 64,040,075 (GRCm39) splice site probably null
R7106:Lctl UTSW 9 64,040,119 (GRCm39) missense probably benign 0.22
R7221:Lctl UTSW 9 64,026,217 (GRCm39) nonsense probably null
R7353:Lctl UTSW 9 64,034,249 (GRCm39) missense probably damaging 1.00
R7501:Lctl UTSW 9 64,038,861 (GRCm39) missense probably benign 0.00
R7615:Lctl UTSW 9 64,029,392 (GRCm39) missense probably damaging 1.00
R7855:Lctl UTSW 9 64,040,498 (GRCm39) missense possibly damaging 0.89
R9077:Lctl UTSW 9 64,039,241 (GRCm39) intron probably benign
R9318:Lctl UTSW 9 64,026,539 (GRCm39) intron probably benign
R9320:Lctl UTSW 9 64,040,455 (GRCm39) missense probably damaging 1.00
R9351:Lctl UTSW 9 64,040,473 (GRCm39) missense possibly damaging 0.94
R9552:Lctl UTSW 9 64,025,049 (GRCm39) missense probably benign 0.02
RF014:Lctl UTSW 9 64,026,212 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCATTCTTATAATAACACGTGGC -3'
(R):5'- CATGTGCATACATACTGCATACATG -3'

Sequencing Primer
(F):5'- GGAGCCATATCCTGCCT -3'
(R):5'- ACTCAGCTCACCAATGTG -3'
Posted On 2019-06-26