Incidental Mutation 'R7855:Lctl'
| ID |
607193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lctl
|
| Ensembl Gene |
ENSMUSG00000032401 |
| Gene Name |
lactase-like |
| Synonyms |
KLPH, E130104I05Rik |
| MMRRC Submission |
045908-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R7855 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
64024429-64045400 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 64040498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 480
(R480S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034969]
[ENSMUST00000118215]
[ENSMUST00000122091]
[ENSMUST00000124020]
[ENSMUST00000176299]
|
| AlphaFold |
Q8K1F9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034969
AA Change: R480S
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034969
Gene: ENSMUSG00000032401
AA Change: R480S
| 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 |
possibly damaging
Transcript: ENSMUST00000118215
AA Change: R321S
PolyPhen 2
Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112979
Gene: ENSMUSG00000032401
AA Change: R321S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,082,454 (GRCm39) |
V1173D |
probably benign |
Het |
| Ace |
A |
T |
11: 105,863,205 (GRCm39) |
M327L |
probably benign |
Het |
| Bcl2l2 |
C |
T |
14: 55,121,836 (GRCm39) |
|
probably benign |
Het |
| Bicdl2 |
C |
T |
17: 23,884,991 (GRCm39) |
Q231* |
probably null |
Het |
| Brms1l |
A |
T |
12: 55,912,838 (GRCm39) |
D277V |
possibly damaging |
Het |
| Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
| Col6a3 |
G |
T |
1: 90,738,343 (GRCm39) |
P1059T |
possibly damaging |
Het |
| Coro1c |
A |
T |
5: 113,986,658 (GRCm39) |
M262K |
probably benign |
Het |
| Cpxm2 |
G |
T |
7: 131,659,424 (GRCm39) |
P481Q |
possibly damaging |
Het |
| Dipk1c |
G |
A |
18: 84,748,171 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,551,286 (GRCm39) |
V2543F |
probably benign |
Het |
| Dock2 |
A |
C |
11: 34,223,698 (GRCm39) |
D1145E |
probably damaging |
Het |
| Elf3 |
G |
A |
1: 135,182,090 (GRCm39) |
R364W |
probably damaging |
Het |
| Eln |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC |
5: 134,739,935 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
G |
16: 63,593,923 (GRCm39) |
I55T |
probably damaging |
Het |
| Gfer |
C |
A |
17: 24,913,259 (GRCm39) |
D198Y |
probably damaging |
Het |
| Gm11568 |
A |
T |
11: 99,749,010 (GRCm39) |
T72S |
unknown |
Het |
| Igkv3-1 |
C |
T |
6: 70,681,053 (GRCm39) |
A84V |
probably benign |
Het |
| Il1rl2 |
A |
C |
1: 40,382,279 (GRCm39) |
Y197S |
probably damaging |
Het |
| Il2ra |
T |
C |
2: 11,685,147 (GRCm39) |
I161T |
possibly damaging |
Het |
| Itgb8 |
C |
T |
12: 119,130,507 (GRCm39) |
R667H |
probably benign |
Het |
| Kcnh7 |
G |
A |
2: 62,667,538 (GRCm39) |
Q334* |
probably null |
Het |
| Lrba |
T |
G |
3: 86,222,737 (GRCm39) |
I617S |
possibly damaging |
Het |
| Marf1 |
G |
T |
16: 13,932,065 (GRCm39) |
H1651N |
probably benign |
Het |
| Mitf |
T |
A |
6: 97,970,157 (GRCm39) |
Y142N |
probably damaging |
Het |
| Or51v14 |
T |
A |
7: 103,260,979 (GRCm39) |
I194F |
possibly damaging |
Het |
| Or52r1 |
A |
G |
7: 102,536,835 (GRCm39) |
V175A |
probably benign |
Het |
| Pecam1 |
A |
G |
11: 106,562,576 (GRCm39) |
V708A |
probably benign |
Het |
| Pinlyp |
C |
T |
7: 24,241,865 (GRCm39) |
|
probably null |
Het |
| Polh |
G |
A |
17: 46,486,174 (GRCm39) |
R382W |
probably damaging |
Het |
| Pramel51 |
A |
T |
12: 88,142,853 (GRCm39) |
I450N |
probably benign |
Het |
| Prdm10 |
A |
G |
9: 31,238,770 (GRCm39) |
I221V |
probably benign |
Het |
| Pskh1 |
G |
T |
8: 106,639,722 (GRCm39) |
R134L |
probably benign |
Het |
| Ptpre |
A |
G |
7: 135,253,724 (GRCm39) |
N6D |
probably benign |
Het |
| Rasgrp4 |
C |
T |
7: 28,850,035 (GRCm39) |
P58L |
unknown |
Het |
| Rhbdf2 |
G |
T |
11: 116,493,066 (GRCm39) |
C393* |
probably null |
Het |
| Rlf |
T |
C |
4: 121,039,888 (GRCm39) |
I174M |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,721,509 (GRCm39) |
R2641* |
probably null |
Het |
| Semp2l1 |
A |
C |
1: 32,585,114 (GRCm39) |
I265M |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,672,645 (GRCm39) |
H331R |
probably benign |
Het |
| Skp2 |
A |
G |
15: 9,122,328 (GRCm39) |
S256P |
probably benign |
Het |
| Smarcd2 |
T |
C |
11: 106,158,392 (GRCm39) |
R10G |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,687,981 (GRCm39) |
L480P |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,523,081 (GRCm39) |
H1541R |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,556,008 (GRCm39) |
L489Q |
probably damaging |
Het |
| Ttll13 |
C |
T |
7: 79,903,845 (GRCm39) |
H258Y |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,522,508 (GRCm39) |
R237G |
possibly damaging |
Het |
| Vmn1r55 |
A |
G |
7: 5,149,623 (GRCm39) |
F267L |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,130 (GRCm39) |
M761K |
possibly damaging |
Het |
| Vps33a |
G |
A |
5: 123,709,042 (GRCm39) |
H58Y |
possibly damaging |
Het |
| Zfp1002 |
C |
T |
2: 150,097,066 (GRCm39) |
R121Q |
probably benign |
Het |
| Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
| Zfp467 |
T |
C |
6: 48,416,115 (GRCm39) |
Q179R |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,067 (GRCm39) |
S721T |
possibly damaging |
Het |
| Zfta |
T |
A |
19: 7,399,621 (GRCm39) |
I456N |
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 |
|
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 |
|
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'- TCTGCGATGAGTGGAGAATC -3'
(R):5'- ATGGTGCCATATTCCCCACC -3'
Sequencing Primer
(F):5'- TGGAGAATCCAGTACCTCAAAG -3'
(R):5'- CCCCTCCTTTGAAAGAAAGAAGTGTG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation