Incidental Mutation 'R9320:Lctl'
ID 706103
Institutional Source Beutler Lab
Gene Symbol Lctl
Ensembl Gene ENSMUSG00000032401
Gene Name lactase-like
Synonyms KLPH, E130104I05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R9320 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 64024429-64045400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64040455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 466 (Y466C)
Ref Sequence ENSEMBL: ENSMUSP00000034969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034969] [ENSMUST00000118215] [ENSMUST00000122091] [ENSMUST00000124020] [ENSMUST00000176299]
AlphaFold Q8K1F9
Predicted Effect probably damaging
Transcript: ENSMUST00000034969
AA Change: Y466C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034969
Gene: ENSMUSG00000032401
AA Change: Y466C

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: Y307C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112979
Gene: ENSMUSG00000032401
AA Change: Y307C

DomainStartEndE-ValueType
Pfam:Glyco_hydro_1 1 343 5.8e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122091
SMART Domains Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
Pfam:DUF2352 38 589 6e-206 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
Predicted Effect probably benign
Transcript: ENSMUST00000176299
SMART Domains Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400

DomainStartEndE-ValueType
Pfam:DUF2352 1 471 2.9e-192 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T C 7: 120,139,320 (GRCm39) Y1451H probably damaging Het
Abca7 T A 10: 79,833,471 (GRCm39) M8K possibly damaging Het
Ablim3 C A 18: 61,972,805 (GRCm39) R238L probably damaging Het
Adar T A 3: 89,658,368 (GRCm39) Y1141* probably null Het
Arid2 T C 15: 96,269,067 (GRCm39) I1060T probably damaging Het
Armc2 A T 10: 41,839,774 (GRCm39) V397D possibly damaging Het
Astn2 A G 4: 66,322,386 (GRCm39) V71A unknown Het
Bcat2 A G 7: 45,234,542 (GRCm39) D141G probably damaging Het
Bicdl1 C A 5: 115,862,769 (GRCm39) R162L probably damaging Het
Btbd17 A G 11: 114,684,910 (GRCm39) I43T possibly damaging Het
C2cd5 A T 6: 142,977,019 (GRCm39) C698* probably null Het
Calr T A 8: 85,572,629 (GRCm39) K87* probably null Het
Cap2 C T 13: 46,768,818 (GRCm39) T208I probably benign Het
Col14a1 A T 15: 55,364,780 (GRCm39) M1630L probably benign Het
Copg1 T G 6: 87,887,072 (GRCm39) S816A possibly damaging Het
Csf2ra C A 19: 61,215,280 (GRCm39) A112S possibly damaging Het
Cwc27 T A 13: 104,933,799 (GRCm39) H241L probably benign Het
Dgki T A 6: 36,892,422 (GRCm39) E852V probably damaging Het
Dpp6 T C 5: 27,868,521 (GRCm39) probably null Het
Dynlrb1 T C 2: 155,089,860 (GRCm39) probably null Het
Ehhadh C T 16: 21,592,281 (GRCm39) V141I probably benign Het
Esyt3 A G 9: 99,194,044 (GRCm39) L865P probably damaging Het
Fam83h T A 15: 75,873,924 (GRCm39) T1138S possibly damaging Het
Fzd4 T C 7: 89,056,912 (GRCm39) W320R probably damaging Het
Gimap7 A T 6: 48,701,260 (GRCm39) K282M probably benign Het
Gnai2 G A 9: 107,492,913 (GRCm39) T330I Het
Gpr107 T C 2: 31,078,728 (GRCm39) S388P possibly damaging Het
Il1a T G 2: 129,142,654 (GRCm39) M264L probably benign Het
Ints10 A T 8: 69,279,951 (GRCm39) I693F probably damaging Het
Jak3 A T 8: 72,134,265 (GRCm39) N456Y probably benign Het
Krcc1 A G 6: 71,261,457 (GRCm39) E163G probably benign Het
Lrp12 A T 15: 39,741,357 (GRCm39) S472T probably damaging Het
Lrp1b A G 2: 41,335,111 (GRCm39) probably null Het
Lrriq1 T A 10: 103,057,144 (GRCm39) M219L probably benign Het
Mbl2 T A 19: 30,216,741 (GRCm39) D184E probably damaging Het
Mrgpra9 G A 7: 46,885,392 (GRCm39) R92C probably benign Het
Mroh4 G A 15: 74,483,405 (GRCm39) T644I probably damaging Het
Muc5ac C T 7: 141,369,255 (GRCm39) A3114V probably benign Het
Myh11 T A 16: 14,029,152 (GRCm39) M1197L Het
Naga C T 15: 82,221,084 (GRCm39) G71S probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Nsd3 A G 8: 26,199,088 (GRCm39) probably null Het
Nsun6 T C 2: 15,047,048 (GRCm39) T101A probably benign Het
Or55b10 T A 7: 102,144,084 (GRCm39) probably benign Het
Pabpc4l T A 3: 46,401,326 (GRCm39) D106V probably damaging Het
Pdlim5 G A 3: 141,953,109 (GRCm39) P529L probably damaging Het
Ralgapa1 A G 12: 55,755,843 (GRCm39) L1111P possibly damaging Het
Rangap1 T C 15: 81,606,221 (GRCm39) D40G probably benign Het
Ripor2 T C 13: 24,915,663 (GRCm39) F1078L probably damaging Het
Ryr3 T C 2: 112,610,336 (GRCm39) D2312G probably damaging Het
Siglecg T A 7: 43,058,853 (GRCm39) I202N probably benign Het
Slco4c1 G T 1: 96,795,644 (GRCm39) S138* probably null Het
Snx27 T C 3: 94,431,593 (GRCm39) Y267C probably damaging Het
Sphk2 C T 7: 45,361,179 (GRCm39) R275H probably damaging Het
Stk36 T A 1: 74,655,793 (GRCm39) V432E possibly damaging Het
Tecrl C T 5: 83,428,422 (GRCm39) S283N possibly damaging Het
Tenm2 T A 11: 35,914,474 (GRCm39) E2354D probably damaging Het
Tmem59l A G 8: 70,937,822 (GRCm39) V186A possibly damaging Het
Try4 T C 6: 41,282,008 (GRCm39) probably null Het
Ubr1 C A 2: 120,727,000 (GRCm39) G1248V probably benign Het
Umod C T 7: 119,065,355 (GRCm39) G558E probably damaging Het
Unc13b T C 4: 43,171,044 (GRCm39) F624S unknown Het
Uvssa T G 5: 33,547,365 (GRCm39) D310E probably benign Het
Vmn1r222 A T 13: 23,416,418 (GRCm39) M265K probably benign Het
Vmn1r3 A G 4: 3,185,284 (GRCm39) F8L probably benign Het
Zfp268 C G 4: 145,349,156 (GRCm39) Q198E possibly damaging Het
Zfp386 T A 12: 116,023,517 (GRCm39) C412S probably damaging 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
R7265:Lctl UTSW 9 64,034,203 (GRCm39) missense probably damaging 1.00
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
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'- GGAGAATCCAGTACCTCAAAGG -3'
(R):5'- ATGGTGCCATATTCCCCACC -3'

Sequencing Primer
(F):5'- GGTGAGGTAAAACTACAATTTGCTTC -3'
(R):5'- CCCCTCCTTTGAAAGAAAGAAGTGTG -3'
Posted On 2022-03-25