Mutagenetix > Incidental Mutation

Incidental Mutation 'R9552:Lctl'

720558

Institutional Source

Beutler Lab

Gene Symbol

Lctl

Ensembl Gene

ENSMUSG00000032401

Gene Name

lactase-like

Synonyms

KLPH, E130104I05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R9552 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64024429-64045400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64025049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 12 (I12V)

Ref Sequence

ENSEMBL: ENSMUSP00000120815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034969] [ENSMUST00000118215] [ENSMUST00000124020]

AlphaFold

Q8K1F9

Predicted Effect

probably benign
Transcript: ENSMUST00000034969
AA Change: I12V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000034969
Gene: ENSMUSG00000032401
AA Change: I12V

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000118215

SMART Domains

Protein: ENSMUSP00000112979
Gene: ENSMUSG00000032401

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_1	1	343	5.8e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124020
AA Change: I12V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000120815
Gene: ENSMUSG00000032401
AA Change: I12V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Glyco_hydro_1	32	235	2.3e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145011

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Abhd6	T	C	14: 8,028,329 (GRCm38)	I20T	possibly damaging	Het
Adamts1	A	G	16: 85,599,505 (GRCm39)	S32P	probably benign	Het
Ak7	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	12: 105,676,448 (GRCm39)		probably benign	Het
Arhgap21	A	T	2: 20,886,397 (GRCm39)	V270E	probably damaging	Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Blvrb	A	G	7: 27,158,786 (GRCm39)	D62G	probably benign	Het
Ccdc68	T	A	18: 70,089,113 (GRCm39)	S219T	probably damaging	Het
Cnbp	A	G	6: 87,822,108 (GRCm39)	Y139H	probably damaging	Het
Csmd3	T	A	15: 48,655,356 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,172,246 (GRCm39)	V387A	probably damaging	Het
Cyp2j7	C	T	4: 96,115,840 (GRCm39)	R202H	probably damaging	Het
Edrf1	A	G	7: 133,240,742 (GRCm39)	D73G	probably damaging	Het
Ercc6	C	T	14: 32,284,525 (GRCm39)	R763C	probably damaging	Het
Gm8159	T	A	14: 15,850,264 (GRCm39)	I161K	probably damaging	Het
Gramd1c	A	T	16: 43,807,294 (GRCm39)	M356K	probably damaging	Het
Has2	T	C	15: 56,531,090 (GRCm39)	K542E	probably benign	Het
Hipk3	T	C	2: 104,301,850 (GRCm39)	N114S	probably benign	Het
Hs3st6	T	C	17: 24,977,228 (GRCm39)	L236P	probably damaging	Het
Il15	T	A	8: 83,061,177 (GRCm39)	H100L	probably benign	Het
Kcnh5	T	C	12: 75,023,334 (GRCm39)	Y578C	probably benign	Het
Mark2	G	T	19: 7,263,263 (GRCm39)	T201N	possibly damaging	Het
Mef2c	A	G	13: 83,810,461 (GRCm39)	N371S	probably benign	Het
Mgst3	T	C	1: 167,205,871 (GRCm39)	Y36C	probably damaging	Het
Ndst1	G	T	18: 60,845,931 (GRCm39)	T126K	probably damaging	Het
Nid1	T	A	13: 13,677,045 (GRCm39)	I995N	probably damaging	Het
Nr2e1	A	T	10: 42,447,487 (GRCm39)	M175K	probably benign	Het
Nrxn1	T	C	17: 90,937,450 (GRCm39)	K669R	probably damaging	Het
Or5d14	C	T	2: 87,880,509 (GRCm39)	W153*	probably null	Het
Or6k4	A	T	1: 173,964,885 (GRCm39)	T192S	probably benign	Het
Pbx1	T	C	1: 168,258,910 (GRCm39)	D55G	possibly damaging	Het
Pck2	T	A	14: 55,780,081 (GRCm39)	I110N	probably damaging	Het
Pkn2	T	C	3: 142,499,594 (GRCm39)	D977G	probably damaging	Het
Pyroxd2	A	G	19: 42,719,756 (GRCm39)		probably null	Het
Rapgef4	A	G	2: 72,008,561 (GRCm39)	I246M	probably benign	Het
Rnasel	T	A	1: 153,630,673 (GRCm39)	N396K	possibly damaging	Het
Scaf1	A	G	7: 44,658,351 (GRCm39)	L176P	probably damaging	Het
Scgb1b12	C	A	7: 32,033,974 (GRCm39)	A78E	probably benign	Het
Scgb2b19	A	G	7: 32,979,198 (GRCm39)	F28S	probably damaging	Het
Skint5	C	T	4: 113,798,052 (GRCm39)	C177Y	possibly damaging	Het
Slitrk5	C	T	14: 111,916,496 (GRCm39)	T40I	probably benign	Het
Slu7	G	A	11: 43,329,095 (GRCm39)	V106I	probably benign	Het
Sorbs1	G	A	19: 40,361,923 (GRCm39)	R154*	probably null	Het
Stc2	A	G	11: 31,310,332 (GRCm39)	S235P	probably benign	Het
Stt3a	T	C	9: 36,645,675 (GRCm39)	D672G	probably benign	Het
Tcerg1l	T	C	7: 137,995,998 (GRCm39)	D170G	possibly damaging	Het
Tcf15	T	C	2: 151,986,039 (GRCm39)	L165P	probably damaging	Het
Tgm1	T	C	14: 55,950,933 (GRCm39)		probably benign	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmco4	G	A	4: 138,779,895 (GRCm39)	V447M	probably damaging	Het
Trf	C	T	9: 103,099,283 (GRCm39)	V339I	probably benign	Het
Ucp1	T	C	8: 84,024,509 (GRCm39)	L278P	probably damaging	Het
Unc80	A	G	1: 66,717,282 (GRCm39)	D2946G	possibly damaging	Het
Vmn1r82	A	G	7: 12,039,600 (GRCm39)	N291S	possibly damaging	Het
Vmn1r86	A	T	7: 12,836,781 (GRCm39)	Y32N	possibly damaging	Het
Wdr49	T	C	3: 75,230,931 (GRCm39)	D577G	probably benign	Het
Wnt10b	C	A	15: 98,670,713 (GRCm39)	G272W	probably damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp512	G	A	5: 31,623,676 (GRCm39)	C14Y	probably benign	Het
Zfp658	G	T	7: 43,222,567 (GRCm39)	V281F	probably benign	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	Het

Other mutations in Lctl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
RF014:Lctl	UTSW	9	64,026,212 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTCAGCTTCTGCACATTG -3'
(R):5'- CCATCCTATGAGACAGGAAGC -3'

Sequencing Primer
(F):5'- GTTTAATGCAGGGTCCCACAC -3'
(R):5'- CAATTCCTTGGCAAGTCAGC -3'

Posted On

2022-08-09