Incidental Mutation 'R4861:Lctl'
ID |
374298 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lctl
|
Ensembl Gene |
ENSMUSG00000032401 |
Gene Name |
lactase-like |
Synonyms |
KLPH, E130104I05Rik |
MMRRC Submission |
042472-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R4861 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
64024429-64045400 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 64027045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 131
(I131T)
|
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: I131T
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000034969 Gene: ENSMUSG00000032401 AA Change: I131T
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 |
possibly damaging
Transcript: ENSMUST00000124020
AA Change: I131T
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000120815 Gene: ENSMUSG00000032401 AA Change: I131T
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
|
Meta Mutation Damage Score |
0.7978 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 87.7%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,076,249 (GRCm39) |
R1153H |
probably damaging |
Het |
Ahcy |
T |
C |
2: 154,902,436 (GRCm39) |
E411G |
probably benign |
Het |
Alpi |
T |
A |
1: 87,028,191 (GRCm39) |
I211F |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,483,479 (GRCm39) |
A1415V |
probably benign |
Het |
Bora |
T |
C |
14: 99,284,910 (GRCm39) |
|
probably null |
Het |
Car3 |
T |
C |
3: 14,931,956 (GRCm39) |
V109A |
probably damaging |
Het |
Cdk13 |
A |
T |
13: 17,941,171 (GRCm39) |
V17D |
probably damaging |
Het |
Cept1 |
A |
C |
3: 106,413,048 (GRCm39) |
S226A |
probably damaging |
Het |
Dbt |
A |
T |
3: 116,341,727 (GRCm39) |
I443L |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Farp2 |
T |
C |
1: 93,533,141 (GRCm39) |
L633S |
probably damaging |
Het |
Gm26727 |
T |
C |
2: 67,263,289 (GRCm39) |
I79M |
probably damaging |
Het |
Gm5800 |
T |
A |
14: 51,953,504 (GRCm39) |
N37I |
probably damaging |
Het |
Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
Ice2 |
T |
A |
9: 69,322,730 (GRCm39) |
S408R |
probably benign |
Het |
Ncoa7 |
T |
A |
10: 30,580,608 (GRCm39) |
M117L |
probably benign |
Het |
Npy4r |
C |
T |
14: 33,868,840 (GRCm39) |
W149* |
probably null |
Het |
Nr5a2 |
A |
G |
1: 136,876,458 (GRCm39) |
|
probably null |
Het |
Odad1 |
A |
G |
7: 45,592,297 (GRCm39) |
E359G |
probably damaging |
Het |
Plg |
G |
A |
17: 12,614,622 (GRCm39) |
E301K |
probably benign |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 78,981,743 (GRCm39) |
K1084R |
probably benign |
Het |
Slc41a2 |
T |
C |
10: 83,152,322 (GRCm39) |
Q51R |
probably damaging |
Het |
Slc47a2 |
A |
T |
11: 61,227,059 (GRCm39) |
C170S |
probably benign |
Het |
Slco1b2 |
A |
T |
6: 141,616,948 (GRCm39) |
N427I |
possibly damaging |
Het |
Smc2 |
G |
A |
4: 52,461,090 (GRCm39) |
R571H |
probably benign |
Het |
Sp4 |
G |
T |
12: 118,264,546 (GRCm39) |
|
probably null |
Het |
Tas2r117 |
T |
C |
6: 132,780,092 (GRCm39) |
F77L |
probably benign |
Het |
Tbcd |
C |
T |
11: 121,492,787 (GRCm39) |
R875C |
probably damaging |
Het |
Thumpd2 |
A |
G |
17: 81,334,230 (GRCm39) |
S453P |
probably benign |
Het |
Vars2 |
G |
T |
17: 35,972,825 (GRCm39) |
Q13K |
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 |
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 |
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'- AGTGATAACAGTCCCTCCCC -3'
(R):5'- AGTCAGACTCTAGGCTCTGG -3'
Sequencing Primer
(F):5'- TCAGTGTCAGGCAAGGGTGAC -3'
(R):5'- TGTTAGTCCTCACACCAG -3'
|
Posted On |
2016-03-01 |