Mutagenetix > Incidental Mutation

Incidental Mutation 'R7353:Lctl'

570745

Institutional Source

Beutler Lab

Gene Symbol

Lctl

Ensembl Gene

ENSMUSG00000032401

Gene Name

lactase-like

Synonyms

KLPH, E130104I05Rik

MMRRC Submission

045439-MU

Accession Numbers

Essential gene?

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

Stock #

R7353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64024429-64045400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64034249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 296 (G296D)

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: G296D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034969
Gene: ENSMUSG00000032401
AA Change: G296D

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 damaging
Transcript: ENSMUST00000118215
AA Change: G137D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112979
Gene: ENSMUSG00000032401
AA Change: G137D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,624,714 (GRCm39)	A11S	unknown	Het
Aadacl4	G	A	4: 144,344,490 (GRCm39)	V89I	probably damaging	Het
Abcc9	T	A	6: 142,546,731 (GRCm39)	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,403,495 (GRCm39)	I427F	probably damaging	Het
Alox12e	T	C	11: 70,212,261 (GRCm39)	Y139C	probably damaging	Het
Arhgef2	T	A	3: 88,542,993 (GRCm39)	V397E	possibly damaging	Het
Arhgef28	T	A	13: 98,211,710 (GRCm39)	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,306,341 (GRCm39)	T454A	probably benign	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Boc	C	T	16: 44,306,100 (GRCm39)	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,413,368 (GRCm39)	N635K	probably benign	Het
Ccr2	T	C	9: 123,906,793 (GRCm39)	S358P	probably damaging	Het
Ccser2	T	C	14: 36,663,100 (GRCm39)	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,386,335 (GRCm39)	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,933,161 (GRCm39)	I137F	possibly damaging	Het
Cttnbp2	A	T	6: 18,375,943 (GRCm39)	I1532K	possibly damaging	Het
Dnajc13	C	A	9: 104,107,230 (GRCm39)	R304L	possibly damaging	Het
Dop1a	T	A	9: 86,394,912 (GRCm39)	M664K	probably damaging	Het
Emilin3	T	A	2: 160,750,741 (GRCm39)	E336V	probably damaging	Het
Eml5	A	G	12: 98,791,683 (GRCm39)	Y63H		Het
Fbxo41	G	T	6: 85,456,958 (GRCm39)	R404S	possibly damaging	Het
Gpr155	A	T	2: 73,197,835 (GRCm39)	Y456*	probably null	Het
Gpr156	T	A	16: 37,812,523 (GRCm39)	N286K	probably damaging	Het
Kcna5	A	G	6: 126,511,808 (GRCm39)	S107P	probably benign	Het
Kcne2	A	T	16: 92,093,710 (GRCm39)	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,648,025 (GRCm39)	M113L	probably benign	Het
Lad1	T	A	1: 135,755,513 (GRCm39)	L263Q	probably damaging	Het
Lmtk3	A	T	7: 45,437,424 (GRCm39)	I205F	possibly damaging	Het
Magel2	G	T	7: 62,029,079 (GRCm39)	R661L	unknown	Het
Mcm10	G	A	2: 5,011,920 (GRCm39)	P180S	possibly damaging	Het
Mia3	G	T	1: 183,108,247 (GRCm39)	A446D		Het
N4bp2	G	A	5: 65,963,714 (GRCm39)	V588M	probably benign	Het
Naip6	C	T	13: 100,436,259 (GRCm39)	V755M	probably benign	Het
Neurl1a	T	C	19: 47,229,099 (GRCm39)	V213A	probably damaging	Het
Nrdc	A	G	4: 108,896,946 (GRCm39)	T522A	probably damaging	Het
Ntng1	T	C	3: 110,042,763 (GRCm39)	Q21R	probably damaging	Het
Nup160	T	C	2: 90,534,296 (GRCm39)	L707S	probably damaging	Het
Oas2	A	T	5: 120,876,587 (GRCm39)	V452D	probably damaging	Het
Or10a3n	A	G	7: 108,493,429 (GRCm39)	F67L	probably damaging	Het
Or1j1	A	G	2: 36,702,915 (GRCm39)	L63P	probably damaging	Het
Or1j4	A	T	2: 36,740,081 (GRCm39)	M8L	probably benign	Het
Or1n1	G	A	2: 36,749,680 (GRCm39)	R227*	probably null	Het
Or52s1	A	C	7: 102,861,516 (GRCm39)	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,914,327 (GRCm39)	T1405S		Het
Pnrc1	G	A	4: 33,248,300 (GRCm39)	P33L	probably damaging	Het
Prkag2	A	T	5: 25,085,684 (GRCm39)	V312E	possibly damaging	Het
Rps17	T	A	7: 80,994,093 (GRCm39)	E76V	possibly damaging	Het
Rsph10b	G	A	5: 143,904,038 (GRCm39)	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,205,807 (GRCm39)	N460S	probably benign	Het
Slco2b1	A	T	7: 99,339,764 (GRCm39)	C56S	possibly damaging	Het
Speer1f	G	A	5: 11,466,403 (GRCm39)	D7N	possibly damaging	Het
Spn	T	C	7: 126,736,178 (GRCm39)	T110A	probably benign	Het
Sult2a8	T	C	7: 14,147,640 (GRCm39)	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,724,315 (GRCm39)	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,934,278 (GRCm39)	M1313L	probably benign	Het
Tmc2	G	A	2: 130,038,497 (GRCm39)		probably null	Het
Tstd1	G	T	1: 171,247,523 (GRCm39)	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,638,567 (GRCm39)	D252G	probably benign	Het
Ulk2	T	C	11: 61,710,174 (GRCm39)	N345D	probably damaging	Het
Unc13c	T	C	9: 73,481,355 (GRCm39)	D1694G	probably benign	Het
Vill	T	C	9: 118,894,561 (GRCm39)	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,564,887 (GRCm39)	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,232,452 (GRCm39)	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,315,088 (GRCm39)	S263P	probably benign	Het
Zfp980	A	G	4: 145,428,714 (GRCm39)	D481G	probably benign	Het
Zmpste24	A	G	4: 120,952,778 (GRCm39)	S81P	probably damaging	Het
Znrf4	A	G	17: 56,819,169 (GRCm39)	V46A	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
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'- GAGCCATATCCTGCCTCTCC -3'
(R):5'- AGCCCAATAAATATGTGCTGTTT -3'

Sequencing Primer
(F):5'- CCTACCCTGACTTTCTTCCTTTAAGG -3'
(R):5'- GCATGGTGGCACATACTTGAATCC -3'

Posted On

2019-09-13