Incidental Mutation 'IGL01664:Lmln'
| ID |
103260 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lmln
|
| Ensembl Gene |
ENSMUSG00000022802 |
| Gene Name |
leishmanolysin-like (metallopeptidase M8 family) |
| Synonyms |
5330415H22Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
IGL01664
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32882891-32948065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32901357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 251
(E251G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023497]
|
| AlphaFold |
Q8BMN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023497
AA Change: E251G
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000023497
Gene: ENSMUSG00000022802
AA Change: E251G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M8
|
154 |
289 |
3.9e-16 |
PFAM |
|
Pfam:Peptidase_M8
|
295 |
633 |
5.2e-54 |
PFAM |
|
transmembrane domain
|
658 |
680 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105610
|
| 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 zinc-metallopeptidase. The encoded protein may play a role in cell migration and invasion. Studies of a similar protein in Drosophila indicate a potential role in mitotic progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Col19a1 |
T |
A |
1: 24,600,416 (GRCm39) |
Y42F |
unknown |
Het |
| Ddx31 |
T |
C |
2: 28,765,847 (GRCm39) |
|
probably benign |
Het |
| Fbln2 |
G |
A |
6: 91,210,439 (GRCm39) |
D128N |
probably damaging |
Het |
| Fgf7 |
G |
T |
2: 125,877,907 (GRCm39) |
M91I |
probably benign |
Het |
| Gm28539 |
A |
G |
16: 18,655,523 (GRCm39) |
H31R |
possibly damaging |
Het |
| Hivep1 |
T |
G |
13: 42,312,755 (GRCm39) |
V1665G |
probably benign |
Het |
| Ifih1 |
T |
C |
2: 62,442,044 (GRCm39) |
|
probably benign |
Het |
| Il10 |
G |
T |
1: 130,949,214 (GRCm39) |
R125L |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 34,114,531 (GRCm39) |
R574H |
probably damaging |
Het |
| Or4e5 |
T |
C |
14: 52,728,002 (GRCm39) |
N57D |
probably benign |
Het |
| Or52n2c |
T |
C |
7: 104,574,311 (GRCm39) |
Y220C |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,771,423 (GRCm39) |
L253Q |
probably damaging |
Het |
| Otol1 |
A |
G |
3: 69,935,130 (GRCm39) |
D374G |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,314 (GRCm39) |
V182A |
probably benign |
Het |
| Polr3e |
T |
C |
7: 120,530,540 (GRCm39) |
|
probably benign |
Het |
| Sectm1a |
A |
T |
11: 120,959,870 (GRCm39) |
S149T |
possibly damaging |
Het |
| Slfn10-ps |
A |
G |
11: 82,926,761 (GRCm39) |
|
noncoding transcript |
Het |
| Sox1ot |
A |
G |
8: 12,480,670 (GRCm39) |
|
noncoding transcript |
Het |
| Tnik |
G |
T |
3: 28,692,628 (GRCm39) |
G895C |
probably damaging |
Het |
|
| Other mutations in Lmln |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Lmln
|
APN |
16 |
32,903,435 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01346:Lmln
|
APN |
16 |
32,937,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
nemeth
|
UTSW |
16 |
32,894,467 (GRCm39) |
nonsense |
probably null |
|
|
R0234:Lmln
|
UTSW |
16 |
32,886,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0234:Lmln
|
UTSW |
16 |
32,886,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0562:Lmln
|
UTSW |
16 |
32,937,455 (GRCm39) |
nonsense |
probably null |
|
|
R1017:Lmln
|
UTSW |
16 |
32,908,546 (GRCm39) |
missense |
probably benign |
|
|
R1557:Lmln
|
UTSW |
16 |
32,908,581 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1617:Lmln
|
UTSW |
16 |
32,937,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Lmln
|
UTSW |
16 |
32,930,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4061:Lmln
|
UTSW |
16 |
32,886,761 (GRCm39) |
nonsense |
probably null |
|
|
R4414:Lmln
|
UTSW |
16 |
32,930,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4512:Lmln
|
UTSW |
16 |
32,908,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4564:Lmln
|
UTSW |
16 |
32,930,226 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4995:Lmln
|
UTSW |
16 |
32,894,467 (GRCm39) |
nonsense |
probably null |
|
|
R5044:Lmln
|
UTSW |
16 |
32,894,550 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6109:Lmln
|
UTSW |
16 |
32,889,481 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6287:Lmln
|
UTSW |
16 |
32,894,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6577:Lmln
|
UTSW |
16 |
32,927,370 (GRCm39) |
splice site |
probably null |
|
|
R6689:Lmln
|
UTSW |
16 |
32,925,152 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7079:Lmln
|
UTSW |
16 |
32,887,661 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7432:Lmln
|
UTSW |
16 |
32,909,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7807:Lmln
|
UTSW |
16 |
32,927,501 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8185:Lmln
|
UTSW |
16 |
32,909,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Lmln
|
UTSW |
16 |
32,901,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9123:Lmln
|
UTSW |
16 |
32,930,202 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9365:Lmln
|
UTSW |
16 |
32,925,169 (GRCm39) |
nonsense |
probably null |
|
|
R9491:Lmln
|
UTSW |
16 |
32,890,358 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Posted On |
2014-01-21 |
Incidental Mutation