Incidental Mutation 'IGL03302:Lctl'
| ID |
416270 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lctl
|
| Ensembl Gene |
ENSMUSG00000032401 |
| Gene Name |
lactase-like |
| Synonyms |
KLPH, E130104I05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL03302
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
64024429-64045400 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 64042130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034969]
[ENSMUST00000118215]
[ENSMUST00000122091]
[ENSMUST00000124020]
[ENSMUST00000176299]
|
| AlphaFold |
Q8K1F9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034969
|
| SMART Domains |
Protein: ENSMUSP00000034969
Gene: ENSMUSG00000032401
| 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: ENSMUST00000122091
|
| SMART Domains |
Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
38 |
589 |
6e-206 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176299
|
| SMART Domains |
Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
1 |
471 |
2.9e-192 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176848
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,858,576 (GRCm39) |
Y542F |
possibly damaging |
Het |
| Ankrd34b |
A |
T |
13: 92,576,151 (GRCm39) |
N461I |
possibly damaging |
Het |
| Ccl24 |
T |
C |
5: 135,599,732 (GRCm39) |
K93E |
probably benign |
Het |
| Ccr9 |
T |
A |
9: 123,608,601 (GRCm39) |
D94E |
probably damaging |
Het |
| Cd79a |
G |
A |
7: 24,598,759 (GRCm39) |
V103M |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,950,521 (GRCm39) |
|
probably null |
Het |
| Cul9 |
T |
C |
17: 46,837,566 (GRCm39) |
E993G |
probably damaging |
Het |
| Cyp4a14 |
T |
C |
4: 115,348,575 (GRCm39) |
I330V |
probably benign |
Het |
| Cyp7a1 |
T |
C |
4: 6,273,801 (GRCm39) |
D35G |
probably benign |
Het |
| Dmpk |
C |
A |
7: 18,820,411 (GRCm39) |
|
probably benign |
Het |
| Gcnt1 |
G |
T |
19: 17,306,547 (GRCm39) |
R393S |
probably benign |
Het |
| Mttp |
A |
T |
3: 137,810,468 (GRCm39) |
I664N |
possibly damaging |
Het |
| Myh1 |
C |
T |
11: 67,102,328 (GRCm39) |
A873V |
probably benign |
Het |
| Nedd9 |
A |
G |
13: 41,492,330 (GRCm39) |
V54A |
probably damaging |
Het |
| Or3a1b |
T |
G |
11: 74,012,459 (GRCm39) |
C115G |
possibly damaging |
Het |
| Or4f14 |
A |
T |
2: 111,743,167 (GRCm39) |
V36E |
possibly damaging |
Het |
| Or6b1 |
G |
T |
6: 42,814,937 (GRCm39) |
E41* |
probably null |
Het |
| Pak6 |
A |
T |
2: 118,523,784 (GRCm39) |
E313V |
probably benign |
Het |
| Pla2g4a |
A |
G |
1: 149,740,698 (GRCm39) |
S402P |
probably benign |
Het |
| Polq |
T |
C |
16: 36,892,134 (GRCm39) |
M2012T |
probably damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,765,788 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,676,616 (GRCm39) |
H188R |
probably damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,566,787 (GRCm39) |
Q682K |
possibly damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Spag4 |
A |
G |
2: 155,910,340 (GRCm39) |
Q322R |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,676,466 (GRCm39) |
T702A |
probably benign |
Het |
| Spmap2l |
T |
G |
5: 77,202,423 (GRCm39) |
S281R |
probably benign |
Het |
| Taf3 |
G |
T |
2: 9,956,942 (GRCm39) |
F408L |
probably damaging |
Het |
| Tead2 |
T |
G |
7: 44,882,323 (GRCm39) |
Y121D |
possibly damaging |
Het |
| Tmco5 |
A |
T |
2: 116,722,760 (GRCm39) |
T294S |
probably damaging |
Het |
| Trim37 |
A |
G |
11: 87,037,827 (GRCm39) |
E187G |
possibly damaging |
Het |
| Ubb |
T |
A |
11: 62,443,243 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,466,652 (GRCm39) |
S402G |
possibly damaging |
Het |
| Zc3h7a |
T |
A |
16: 10,959,574 (GRCm39) |
H793L |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,773 (GRCm39) |
T2977I |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation