Incidental Mutation 'R3798:Lancl1'
ID |
272825 |
Institutional Source |
Beutler Lab
|
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: 0.114)
|
Stock # |
R3798 (G1)
|
Quality Score |
219 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
67039676-67078031 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 67073303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 60
(T60I)
|
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: T60I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027149 Gene: ENSMUSG00000026000 AA Change: T60I
Domain | Start | End | E-Value | Type |
LANC_like
|
55 |
399 |
7.17e-144 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113979
AA Change: T60I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109612 Gene: ENSMUSG00000026000 AA Change: T60I
Domain | Start | End | E-Value | Type |
LANC_like
|
55 |
399 |
7.17e-144 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119559
AA Change: T60I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113080 Gene: ENSMUSG00000026000 AA Change: T60I
Domain | Start | End | E-Value | Type |
LANC_like
|
55 |
399 |
7.17e-144 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000149996
AA Change: T60I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122752 Gene: ENSMUSG00000026000 AA Change: T60I
Domain | Start | End | E-Value | Type |
Pfam:LANC_like
|
55 |
173 |
2.3e-29 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
T |
A |
7: 131,033,694 (GRCm39) |
V237E |
probably damaging |
Het |
Adgrf3 |
T |
C |
5: 30,401,821 (GRCm39) |
I736V |
possibly damaging |
Het |
Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,550,065 (GRCm39) |
S21P |
probably damaging |
Het |
Btbd16 |
A |
G |
7: 130,378,870 (GRCm39) |
N5D |
probably benign |
Het |
Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
Cyld |
T |
C |
8: 89,461,558 (GRCm39) |
L662P |
probably damaging |
Het |
Eif2ak4 |
C |
T |
2: 118,304,564 (GRCm39) |
R1530C |
probably damaging |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Ip6k3 |
T |
C |
17: 27,364,080 (GRCm39) |
I323V |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,358,231 (GRCm39) |
L599P |
probably damaging |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Lrrc8d |
T |
A |
5: 105,960,355 (GRCm39) |
I255N |
probably benign |
Het |
Ndst1 |
A |
G |
18: 60,846,238 (GRCm39) |
F24L |
possibly damaging |
Het |
Notch1 |
A |
T |
2: 26,368,630 (GRCm39) |
V553E |
probably benign |
Het |
Nsd3 |
T |
A |
8: 26,188,873 (GRCm39) |
W69R |
probably damaging |
Het |
Or2g25 |
T |
A |
17: 37,970,997 (GRCm39) |
I76F |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,711,051 (GRCm39) |
I107T |
possibly damaging |
Het |
Pcnx3 |
G |
A |
19: 5,728,696 (GRCm39) |
Q422* |
probably null |
Het |
Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
Ptbp3 |
T |
C |
4: 59,546,166 (GRCm39) |
I9V |
probably benign |
Het |
Sacs |
T |
C |
14: 61,443,570 (GRCm39) |
V1872A |
possibly damaging |
Het |
Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
Slx4ip |
T |
A |
2: 136,909,543 (GRCm39) |
D109E |
probably benign |
Het |
Tas2r118 |
T |
C |
6: 23,969,822 (GRCm39) |
K80E |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,725,087 (GRCm39) |
|
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,402 (GRCm39) |
Y267C |
possibly damaging |
Het |
Wdr90 |
T |
C |
17: 26,069,472 (GRCm39) |
S1194G |
probably benign |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
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 |
IGL01727:Lancl1
|
APN |
1 |
67,060,101 (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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTCCTCACAGTAAACGCC -3'
(R):5'- GTTCCATATGTGGTTTCTGAAAAGC -3'
Sequencing Primer
(F):5'- ACAGTTCTGGAAAGGTCC -3'
(R):5'- TGTGGTTTCTGAAAAGCTACTTTAAG -3'
|
Posted On |
2015-03-25 |