Mutagenetix > Incidental Mutation

Incidental Mutation 'R7501:Lctl'

581483

Institutional Source

Beutler Lab

Gene Symbol

Lctl

Ensembl Gene

ENSMUSG00000032401

Gene Name

lactase-like

Synonyms

KLPH, E130104I05Rik

MMRRC Submission

045574-MU

Accession Numbers

Essential gene?

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

Stock #

R7501 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64024429-64045400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64038861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 317 (M317L)

Ref Sequence

ENSEMBL: ENSMUSP00000034969 (fasta)

Gene Model

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

AlphaFold

Q8K1F9

Predicted Effect

probably benign
Transcript: ENSMUST00000034969
AA Change: M317L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034969
Gene: ENSMUSG00000032401
AA Change: M317L

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
AA Change: M158L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112979
Gene: ENSMUSG00000032401
AA Change: M158L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124020

SMART Domains

Protein: ENSMUSP00000120815
Gene: ENSMUSG00000032401

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

Meta Mutation Damage Score

0.0819

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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
Acad9	A	G	3: 36,142,974 (GRCm39)	N503S	probably benign	Het
Adam1a	C	T	5: 121,657,011 (GRCm39)	A761T	possibly damaging	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Ankrd44	T	C	1: 54,688,522 (GRCm39)	E238G		Het
Ap3b2	A	T	7: 81,123,194 (GRCm39)	I440K	probably damaging	Het
Atp2a1	G	A	7: 126,049,344 (GRCm39)	T566I	probably benign	Het
B3galnt1	T	C	3: 69,482,632 (GRCm39)	I210V	probably benign	Het
Bag5	T	C	12: 111,676,722 (GRCm39)	K367R	probably benign	Het
Cdc25b	T	C	2: 131,036,080 (GRCm39)	Y410H	probably damaging	Het
Cgref1	G	T	5: 31,102,800 (GRCm39)	P7Q	probably damaging	Het
Cnot6	T	C	11: 49,576,159 (GRCm39)	I136V	probably benign	Het
Comp	A	G	8: 70,832,059 (GRCm39)	D500G	possibly damaging	Het
Dnah7b	T	C	1: 46,395,714 (GRCm39)	L3872P	probably damaging	Het
Dync2h1	A	T	9: 7,175,336 (GRCm39)	L91Q	possibly damaging	Het
Fancd2	T	C	6: 113,525,364 (GRCm39)	V280A	possibly damaging	Het
Fat4	T	A	3: 39,012,597 (GRCm39)	Y2297*	probably null	Het
Fem1c	A	T	18: 46,638,868 (GRCm39)	M378K	probably damaging	Het
Gata6	A	G	18: 11,054,082 (GRCm39)	T4A	probably damaging	Het
Gatb	G	C	3: 85,544,297 (GRCm39)	V422L	probably damaging	Het
Gfpt1	T	A	6: 87,059,508 (GRCm39)	D510E	probably benign	Het
Gria4	A	T	9: 4,502,436 (GRCm39)	Y366N	probably benign	Het
Gucy1b1	T	C	3: 81,942,666 (GRCm39)	H492R	probably damaging	Het
H2bc6	A	G	13: 23,769,776 (GRCm39)	I55T	possibly damaging	Het
Hecw2	T	C	1: 53,953,031 (GRCm39)		probably null	Het
Hnrnph1	A	C	11: 50,270,383 (GRCm39)	E62D	probably benign	Het
Itga2	A	G	13: 115,012,095 (GRCm39)	V274A	probably damaging	Het
Kdm5d	T	A	Y: 941,488 (GRCm39)	W1230R	probably damaging	Het
Lrp6	T	C	6: 134,463,471 (GRCm39)	D570G	probably damaging	Het
Lrrc9	G	T	12: 72,496,490 (GRCm39)	M39I	probably damaging	Het
Ltbp2	A	T	12: 84,877,419 (GRCm39)	I402N	probably damaging	Het
Mst1	G	A	9: 107,959,748 (GRCm39)	G297D	probably damaging	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Nbr1	G	A	11: 101,457,026 (GRCm39)	R163Q	probably damaging	Het
Nlrp4f	A	G	13: 65,342,143 (GRCm39)	F501L	probably damaging	Het
Nup133	A	C	8: 124,649,153 (GRCm39)	I563S	probably benign	Het
Oacyl	T	G	18: 65,858,369 (GRCm39)		probably null	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Plxna2	C	T	1: 194,326,203 (GRCm39)	R46C	possibly damaging	Het
Ppp1r26	T	A	2: 28,340,749 (GRCm39)	D126E	probably damaging	Het
Prl6a1	A	T	13: 27,500,282 (GRCm39)	R84S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,746 (GRCm39)	Q1279*	probably null	Het
Ptx4	C	T	17: 25,344,166 (GRCm39)	T472I	possibly damaging	Het
Rabgap1l	A	G	1: 160,528,358 (GRCm39)	V416A	probably damaging	Het
Rbfox2	A	T	15: 76,989,834 (GRCm39)	D231E	probably benign	Het
Reln	A	T	5: 22,432,636 (GRCm39)	F121L	possibly damaging	Het
Rfx7	G	A	9: 72,524,054 (GRCm39)	V415I	probably benign	Het
Scaf4	A	T	16: 90,026,964 (GRCm39)	M951K	unknown	Het
Sdf4	T	C	4: 156,080,977 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,331,863 (GRCm39)	T51A	probably damaging	Het
Sema3a	A	G	5: 13,607,008 (GRCm39)	N281S	probably damaging	Het
Snai2	G	A	16: 14,524,754 (GRCm39)	V87I	possibly damaging	Het
Spata31f1e	T	C	4: 42,791,357 (GRCm39)	E925G	probably damaging	Het
Synj2	T	A	17: 6,040,514 (GRCm39)	S197T	possibly damaging	Het
Syt6	A	T	3: 103,495,018 (GRCm39)	M328L	probably benign	Het
Tdrd12	A	G	7: 35,177,516 (GRCm39)	V946A	unknown	Het
Trat1	A	T	16: 48,574,657 (GRCm39)		probably null	Het
Vmn1r75	T	A	7: 11,614,997 (GRCm39)	I243K	possibly damaging	Het
Vmn2r83	G	A	10: 79,327,771 (GRCm39)	C793Y	probably damaging	Het
Wnt9a	G	A	11: 59,219,583 (GRCm39)	G203D	probably damaging	Het
Xrn2	T	C	2: 146,871,676 (GRCm39)	I366T	probably damaging	Het
Zfp280d	A	G	9: 72,269,224 (GRCm39)	D787G	possibly damaging	Het
Zfp706	T	C	15: 37,002,169 (GRCm39)	T53A	probably damaging	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
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'- AAACAGTAAGCAAGCTACATTTAGAA -3'
(R):5'- GGGGTCCACAAGCTCCAC -3'

Sequencing Primer
(F):5'- AGACCAGGGTGGCTTTCAACTTAC -3'
(R):5'- CACTAAGTCACGGTCATTCTGGTAG -3'

Posted On

2019-10-17