Incidental Mutation 'R6643:Lancl1'
| ID |
525897 |
| 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 |
| MMRRC Submission |
044764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R6643 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
67039676-67078031 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67043542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 360
(E360G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027149]
[ENSMUST00000113979]
[ENSMUST00000119559]
|
| AlphaFold |
O89112 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027149
AA Change: E360G
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000027149
Gene: ENSMUSG00000026000
AA Change: E360G
| Domain | Start | End | E-Value | Type |
|---|
|
LANC_like
|
55 |
399 |
7.17e-144 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113979
AA Change: E360G
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109612
Gene: ENSMUSG00000026000
AA Change: E360G
| Domain | Start | End | E-Value | Type |
|---|
|
LANC_like
|
55 |
399 |
7.17e-144 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119559
AA Change: E360G
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113080
Gene: ENSMUSG00000026000
AA Change: E360G
| Domain | Start | End | E-Value | Type |
|---|
|
LANC_like
|
55 |
399 |
7.17e-144 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133508
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (39/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,183,644 (GRCm39) |
S140P |
probably damaging |
Het |
| Atp5mc1 |
A |
C |
11: 95,964,854 (GRCm39) |
C17W |
probably damaging |
Het |
| Brd4 |
A |
G |
17: 32,417,470 (GRCm39) |
S161P |
unknown |
Het |
| Cntrob |
A |
G |
11: 69,202,248 (GRCm39) |
V448A |
possibly damaging |
Het |
| Col22a1 |
T |
C |
15: 71,693,886 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
C |
9: 105,877,830 (GRCm39) |
Y2049C |
probably damaging |
Het |
| Cpn1 |
C |
T |
19: 43,948,472 (GRCm39) |
D395N |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,266,390 (GRCm39) |
T769A |
probably benign |
Het |
| Cts6 |
T |
A |
13: 61,349,607 (GRCm39) |
H62L |
probably damaging |
Het |
| Ddx42 |
G |
T |
11: 106,119,646 (GRCm39) |
V144F |
probably benign |
Het |
| E130308A19Rik |
A |
G |
4: 59,720,561 (GRCm39) |
S698G |
possibly damaging |
Het |
| Eif2b3 |
T |
C |
4: 116,927,954 (GRCm39) |
L391P |
probably damaging |
Het |
| Gm1043 |
T |
C |
5: 37,330,895 (GRCm39) |
I525T |
probably benign |
Het |
| Kifc1 |
C |
T |
17: 34,104,829 (GRCm39) |
G59S |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,332,340 (GRCm39) |
L1679S |
probably benign |
Het |
| Mroh9 |
T |
A |
1: 162,903,130 (GRCm39) |
D91V |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Ntsr1 |
T |
C |
2: 180,142,719 (GRCm39) |
I170T |
probably damaging |
Het |
| Or2ag15 |
T |
A |
7: 106,340,911 (GRCm39) |
I77F |
probably benign |
Het |
| Or2ag16 |
A |
G |
7: 106,351,776 (GRCm39) |
I273T |
probably benign |
Het |
| Or6n2 |
T |
C |
1: 173,897,611 (GRCm39) |
L249P |
probably damaging |
Het |
| Or6z5 |
G |
A |
7: 6,477,720 (GRCm39) |
D204N |
probably benign |
Het |
| Pcolce |
T |
A |
5: 137,607,165 (GRCm39) |
T109S |
probably damaging |
Het |
| Reg3b |
C |
A |
6: 78,349,905 (GRCm39) |
S148R |
possibly damaging |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,731 (GRCm39) |
S365P |
probably damaging |
Het |
| Slc27a4 |
A |
G |
2: 29,702,860 (GRCm39) |
E563G |
probably benign |
Het |
| Slc4a10 |
C |
T |
2: 62,059,054 (GRCm39) |
T187M |
possibly damaging |
Het |
| Slc5a7 |
G |
T |
17: 54,583,644 (GRCm39) |
Q549K |
probably benign |
Het |
| Stxbp3 |
A |
G |
3: 108,701,150 (GRCm39) |
L573P |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,687,001 (GRCm39) |
S120T |
possibly damaging |
Het |
| Tnni2 |
G |
T |
7: 141,998,016 (GRCm39) |
G163V |
probably damaging |
Het |
| Ttl |
T |
C |
2: 128,923,262 (GRCm39) |
I201T |
possibly damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,945 (GRCm39) |
T263A |
probably benign |
Het |
| Wdr1 |
A |
T |
5: 38,697,521 (GRCm39) |
D262E |
probably damaging |
Het |
| Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,343,667 (GRCm39) |
E682G |
possibly 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 |
|
|
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 |
|
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'- CTGACATTTCAGGAAATAAGGTGG -3'
(R):5'- CTTTGTAGGACCAAAGGCTGAAG -3'
Sequencing Primer
(F):5'- CATTTCAGGAAATAAGGTGGTACATG -3'
(R):5'- GTTTTGGTACCCTTGGCAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation