Incidental Mutation 'R2867:Lctl'
| ID |
253351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lctl
|
| Ensembl Gene |
ENSMUSG00000032401 |
| Gene Name |
lactase-like |
| Synonyms |
KLPH, E130104I05Rik |
| MMRRC Submission |
040456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R2867 (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 64045150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 550
(S550P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034969]
[ENSMUST00000118215]
[ENSMUST00000122091]
[ENSMUST00000124020]
[ENSMUST00000143421]
[ENSMUST00000176299]
[ENSMUST00000176794]
|
| AlphaFold |
Q8K1F9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034969
AA Change: S550P
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000034969
Gene: ENSMUSG00000032401
AA Change: S550P
| 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: ENSMUST00000143421
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152824
|
| SMART Domains |
Protein: ENSMUSP00000115556
Gene: ENSMUSG00000032400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
1 |
51 |
7.4e-23 |
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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176794
|
| SMART Domains |
Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2352
|
38 |
257 |
8e-67 |
PFAM |
|
Pfam:DUF2352
|
254 |
568 |
4.4e-131 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.6%
- 10x: 94.8%
- 20x: 82.0%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
T |
C |
1: 177,595,378 (GRCm39) |
|
probably null |
Het |
| Arid3c |
T |
C |
4: 41,725,958 (GRCm39) |
D215G |
probably damaging |
Het |
| Birc2 |
A |
C |
9: 7,834,478 (GRCm39) |
M1R |
probably null |
Het |
| Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
| Cyp7a1 |
T |
C |
4: 6,272,493 (GRCm39) |
E240G |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,310,257 (GRCm39) |
L337* |
probably null |
Het |
| Epha6 |
T |
C |
16: 59,780,659 (GRCm39) |
|
probably null |
Het |
| Gm42542 |
T |
C |
6: 68,872,634 (GRCm39) |
|
probably null |
Het |
| Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
| Kif20b |
A |
G |
19: 34,917,528 (GRCm39) |
E631G |
probably damaging |
Het |
| Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,588,033 (GRCm39) |
N302D |
probably benign |
Het |
| Pcdh7 |
A |
T |
5: 57,879,236 (GRCm39) |
K930N |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,675,456 (GRCm39) |
I457L |
probably benign |
Het |
| Proca1 |
A |
T |
11: 78,095,806 (GRCm39) |
N146I |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,776,235 (GRCm39) |
W1101R |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,725,209 (GRCm39) |
T216A |
probably benign |
Het |
| Thnsl2 |
C |
A |
6: 71,108,945 (GRCm39) |
D289Y |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
| Tradd |
G |
T |
8: 105,986,145 (GRCm39) |
F182L |
probably benign |
Het |
| Trav17 |
A |
T |
14: 54,044,383 (GRCm39) |
Y50F |
probably benign |
Het |
| Usp37 |
A |
T |
1: 74,489,691 (GRCm39) |
D808E |
probably damaging |
Het |
| Usp42 |
G |
A |
5: 143,701,219 (GRCm39) |
P935S |
possibly damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,690,123 (GRCm39) |
D333G |
possibly damaging |
Het |
| Zfpm2 |
C |
T |
15: 40,962,785 (GRCm39) |
A149V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCATGGCTCCAAAACTC -3'
(R):5'- AGGAGAGTTGAGACTACAGGTTTC -3'
Sequencing Primer
(F):5'- CATGGCTCCAAAACTCCATTTC -3'
(R):5'- TCACAGCACAAAACAAAAAGGGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation