Incidental Mutation 'R9351:Lctl'
| ID |
708075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lctl
|
| Ensembl Gene |
ENSMUSG00000032401 |
| Gene Name |
lactase-like |
| Synonyms |
KLPH, E130104I05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R9351 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
64024429-64045400 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64040473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 472
(F472S)
|
| 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: F472S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034969
Gene: ENSMUSG00000032401
AA Change: F472S
| 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: F313S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112979
Gene: ENSMUSG00000032401
AA Change: F313S
| 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: 98.8%
|
| Validation Efficiency |
100% (54/54) |
| 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 |
|---|
| 1700113H08Rik |
A |
G |
10: 87,066,068 (GRCm39) |
T84A |
probably benign |
Het |
| Abca17 |
G |
A |
17: 24,510,751 (GRCm39) |
S909L |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,169,929 (GRCm39) |
Y371F |
possibly damaging |
Het |
| Adcy9 |
A |
T |
16: 4,236,228 (GRCm39) |
S394R |
probably damaging |
Het |
| Ahcyl1 |
T |
C |
3: 107,575,011 (GRCm39) |
N444S |
probably damaging |
Het |
| Ahnak |
A |
C |
19: 8,985,232 (GRCm39) |
D2172A |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,130,576 (GRCm39) |
D421N |
probably benign |
Het |
| Brd1 |
T |
A |
15: 88,614,307 (GRCm39) |
E196V |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,128,300 (GRCm39) |
D317G |
probably damaging |
Het |
| Ccdc96 |
T |
C |
5: 36,642,069 (GRCm39) |
I25T |
unknown |
Het |
| Clgn |
A |
G |
8: 84,153,218 (GRCm39) |
R607G |
possibly damaging |
Het |
| Clp1 |
T |
C |
2: 84,554,195 (GRCm39) |
K325E |
probably benign |
Het |
| Dcun1d1 |
A |
T |
3: 35,975,185 (GRCm39) |
I52K |
probably benign |
Het |
| Dync2h1 |
G |
A |
9: 7,176,911 (GRCm39) |
T16I |
probably damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,771 (GRCm39) |
I411F |
probably benign |
Het |
| Epb41l5 |
A |
G |
1: 119,477,639 (GRCm39) |
F711L |
probably benign |
Het |
| Esr1 |
G |
A |
10: 4,696,763 (GRCm39) |
W204* |
probably null |
Het |
| Fat2 |
A |
G |
11: 55,172,127 (GRCm39) |
L2862P |
probably damaging |
Het |
| Frmd3 |
A |
G |
4: 74,054,068 (GRCm39) |
E159G |
probably damaging |
Het |
| Gsto2 |
T |
A |
19: 47,874,608 (GRCm39) |
C243S |
possibly damaging |
Het |
| Heg1 |
A |
G |
16: 33,545,867 (GRCm39) |
H206R |
probably benign |
Het |
| Ifi203 |
A |
G |
1: 173,750,133 (GRCm39) |
V862A |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,615,107 (GRCm39) |
H497Y |
probably benign |
Het |
| Irf5 |
A |
T |
6: 29,531,317 (GRCm39) |
N61I |
possibly damaging |
Het |
| Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
| Kcnj12 |
C |
T |
11: 60,960,673 (GRCm39) |
H324Y |
probably damaging |
Het |
| Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
| Lars2 |
A |
G |
9: 123,265,366 (GRCm39) |
Q474R |
probably benign |
Het |
| Map4k2 |
T |
C |
19: 6,401,223 (GRCm39) |
S590P |
probably benign |
Het |
| Mcf2l |
G |
T |
8: 13,050,757 (GRCm39) |
L337F |
possibly damaging |
Het |
| Mvp |
A |
G |
7: 126,595,435 (GRCm39) |
V225A |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,065,910 (GRCm39) |
D241E |
probably damaging |
Het |
| Or6n2 |
T |
A |
1: 173,897,021 (GRCm39) |
D52E |
probably benign |
Het |
| Pagr1a |
A |
T |
7: 126,616,073 (GRCm39) |
H7Q |
probably damaging |
Het |
| Parp8 |
G |
T |
13: 117,000,781 (GRCm39) |
Q787K |
probably damaging |
Het |
| Pcdhb2 |
C |
A |
18: 37,429,369 (GRCm39) |
N90K |
probably damaging |
Het |
| Pde6h |
A |
G |
6: 136,936,332 (GRCm39) |
K25R |
probably benign |
Het |
| Prr35 |
G |
A |
17: 26,166,118 (GRCm39) |
Q390* |
probably null |
Het |
| Psd3 |
C |
A |
8: 68,413,301 (GRCm39) |
A410S |
probably benign |
Het |
| Pus10 |
A |
G |
11: 23,617,311 (GRCm39) |
N8S |
probably benign |
Het |
| Rnf115 |
T |
C |
3: 96,695,994 (GRCm39) |
L260S |
probably damaging |
Het |
| Sdsl |
A |
T |
5: 120,601,159 (GRCm39) |
Y38N |
probably benign |
Het |
| Sf1 |
A |
G |
19: 6,415,694 (GRCm39) |
D11G |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 36,936,047 (GRCm39) |
Y1177H |
probably damaging |
Het |
| Taar2 |
G |
A |
10: 23,816,900 (GRCm39) |
V147I |
probably benign |
Het |
| Tmed3 |
A |
T |
9: 89,584,980 (GRCm39) |
F92I |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,832,086 (GRCm39) |
T357A |
probably damaging |
Het |
| Trbv14 |
A |
T |
6: 41,112,428 (GRCm39) |
D75V |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,262 (GRCm39) |
V190A |
probably benign |
Het |
| Vmn2r115 |
A |
T |
17: 23,578,482 (GRCm39) |
I652F |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,016,333 (GRCm39) |
M266L |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,143,057 (GRCm39) |
I198V |
probably benign |
Het |
| Wdr27 |
G |
A |
17: 15,128,833 (GRCm39) |
A540V |
possibly damaging |
Het |
| Zfp26 |
A |
C |
9: 20,349,447 (GRCm39) |
Y372* |
probably null |
Het |
| Zfp286 |
A |
G |
11: 62,670,801 (GRCm39) |
V424A |
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 |
|
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 |
|
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'- TCTGCGATGAGTGGAGAATCC -3'
(R):5'- CCTCCTTTGAAAGAAAGAAGTGTGG -3'
Sequencing Primer
(F):5'- TGGAGAATCCAGTACCTCAAAG -3'
(R):5'- GAAGTGTGGTTCATCTTAATCTTCAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation