Incidental Mutation 'IGL01727:Lancl1'
| ID |
105327 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lancl1
|
| Ensembl Gene |
ENSMUSG00000026000 |
| Gene Name |
LanC (bacterial lantibiotic synthetase component C)-like 1 |
| Synonyms |
p40, Gpr69a, LanC-like protein 1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
IGL01727
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
67039676-67078031 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67060101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 108
(C108Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027149]
[ENSMUST00000113979]
[ENSMUST00000119559]
[ENSMUST00000149996]
|
| AlphaFold |
O89112 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027149
AA Change: C108Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027149
Gene: ENSMUSG00000026000
AA Change: C108Y
| Domain | Start | End | E-Value | Type |
|---|
|
LANC_like
|
55 |
399 |
7.17e-144 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113979
AA Change: C108Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109612
Gene: ENSMUSG00000026000
AA Change: C108Y
| Domain | Start | End | E-Value | Type |
|---|
|
LANC_like
|
55 |
399 |
7.17e-144 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119559
AA Change: C108Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113080
Gene: ENSMUSG00000026000
AA Change: C108Y
| Domain | Start | End | E-Value | Type |
|---|
|
LANC_like
|
55 |
399 |
7.17e-144 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133508
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149996
AA Change: C108Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122752
Gene: ENSMUSG00000026000
AA Change: C108Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LANC_like
|
55 |
173 |
2.3e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189210
|
| 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 loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a null mutation display postnatal neurodegeneration with increased oxidative stress and mitochondrial impairment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
C |
T |
11: 46,012,380 (GRCm39) |
A292V |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,488,597 (GRCm39) |
L1354P |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,112,387 (GRCm39) |
C720* |
probably null |
Het |
| Aqp5 |
T |
C |
15: 99,489,502 (GRCm39) |
L117P |
probably damaging |
Het |
| Ccn3 |
G |
A |
15: 54,609,634 (GRCm39) |
A45T |
probably benign |
Het |
| Col9a3 |
T |
C |
2: 180,258,358 (GRCm39) |
|
probably null |
Het |
| Ctrc |
T |
C |
4: 141,571,072 (GRCm39) |
Y56C |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,171,257 (GRCm39) |
T581S |
probably benign |
Het |
| Grap2 |
T |
C |
15: 80,518,610 (GRCm39) |
I51T |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,787,554 (GRCm39) |
Y1737C |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,560,187 (GRCm39) |
M346T |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,553,447 (GRCm39) |
C824R |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,147,030 (GRCm39) |
S88G |
probably damaging |
Het |
| Mtdh |
T |
G |
15: 34,083,255 (GRCm39) |
L25R |
probably damaging |
Het |
| Musk |
A |
G |
4: 58,303,887 (GRCm39) |
I177V |
probably benign |
Het |
| Obi1 |
G |
A |
14: 104,716,823 (GRCm39) |
R517* |
probably null |
Het |
| Or12e13 |
T |
C |
2: 87,663,844 (GRCm39) |
S154P |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,271 (GRCm39) |
M115V |
probably benign |
Het |
| Or9i16 |
A |
G |
19: 13,865,242 (GRCm39) |
C111R |
probably damaging |
Het |
| Pabpc4l |
C |
A |
3: 46,401,100 (GRCm39) |
E181D |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,710,149 (GRCm39) |
S389P |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,883,474 (GRCm39) |
Y864H |
probably damaging |
Het |
| Rbp4 |
A |
G |
19: 38,112,500 (GRCm39) |
V155A |
probably benign |
Het |
| Rilpl1 |
C |
T |
5: 124,669,007 (GRCm39) |
A14T |
possibly damaging |
Het |
| Rnf148 |
T |
A |
6: 23,655,001 (GRCm39) |
|
probably benign |
Het |
| Ska2 |
T |
A |
11: 87,006,973 (GRCm39) |
L26Q |
probably damaging |
Het |
| Slc29a2 |
T |
A |
19: 5,076,486 (GRCm39) |
F125I |
probably damaging |
Het |
| Smap2 |
A |
G |
4: 120,839,405 (GRCm39) |
|
probably benign |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Supt7l |
A |
G |
5: 31,677,686 (GRCm39) |
V160A |
possibly damaging |
Het |
| Susd1 |
A |
G |
4: 59,412,329 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,997,842 (GRCm39) |
D375G |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,667,379 (GRCm39) |
T634A |
probably benign |
Het |
| Tpst2 |
G |
A |
5: 112,457,724 (GRCm39) |
D351N |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,149,556 (GRCm39) |
I376T |
probably benign |
Het |
| Trcg1 |
T |
A |
9: 57,149,877 (GRCm39) |
I483N |
probably damaging |
Het |
| Tsga10 |
T |
C |
1: 37,874,355 (GRCm39) |
E148G |
probably damaging |
Het |
| Zranb1 |
G |
T |
7: 132,568,349 (GRCm39) |
D336Y |
probably damaging |
Het |
|
| Other mutations in Lancl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00852:Lancl1
|
APN |
1 |
67,043,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01800:Lancl1
|
APN |
1 |
67,060,029 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03036:Lancl1
|
APN |
1 |
67,046,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03329:Lancl1
|
APN |
1 |
67,060,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0535:Lancl1
|
UTSW |
1 |
67,049,065 (GRCm39) |
unclassified |
probably benign |
|
|
R0731:Lancl1
|
UTSW |
1 |
67,049,069 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3798:Lancl1
|
UTSW |
1 |
67,073,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4405:Lancl1
|
UTSW |
1 |
67,060,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4933:Lancl1
|
UTSW |
1 |
67,060,193 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4980:Lancl1
|
UTSW |
1 |
67,043,968 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5193:Lancl1
|
UTSW |
1 |
67,060,173 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6643:Lancl1
|
UTSW |
1 |
67,043,542 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7235:Lancl1
|
UTSW |
1 |
67,077,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7250:Lancl1
|
UTSW |
1 |
67,048,458 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8854:Lancl1
|
UTSW |
1 |
67,073,358 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9105:Lancl1
|
UTSW |
1 |
67,043,962 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9323:Lancl1
|
UTSW |
1 |
67,077,794 (GRCm39) |
intron |
probably benign |
|
|
R9487:Lancl1
|
UTSW |
1 |
67,073,381 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Posted On |
2014-01-21 |
Incidental Mutation