Incidental Mutation 'IGL01346:Lmln'
| ID |
75059 |
| 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: 0.130)
|
| Stock # |
IGL01346
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32882891-32948065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 32937490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 618
(N618K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023497]
|
| AlphaFold |
Q8BMN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023497
AA Change: N618K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000023497
Gene: ENSMUSG00000022802
AA Change: N618K
| 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: ENSMUST00000140504
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3300002I08Rik |
A |
G |
2: 150,152,980 (GRCm39) |
V135A |
unknown |
Het |
| Cnot4 |
A |
T |
6: 35,047,183 (GRCm39) |
I143N |
probably damaging |
Het |
| Cnot6l |
A |
T |
5: 96,234,105 (GRCm39) |
M302K |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,322,759 (GRCm39) |
T1542A |
probably damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,633,766 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,363,116 (GRCm39) |
S3893P |
probably benign |
Het |
| Duox2 |
A |
T |
2: 122,117,683 (GRCm39) |
|
probably benign |
Het |
| Dusp1 |
T |
C |
17: 26,725,295 (GRCm39) |
N355D |
probably benign |
Het |
| Fam76b |
T |
C |
9: 13,741,046 (GRCm39) |
C60R |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,272,041 (GRCm39) |
V944I |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,091,961 (GRCm39) |
Y249C |
probably damaging |
Het |
| Ift88 |
A |
T |
14: 57,681,862 (GRCm39) |
E215D |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,424,551 (GRCm39) |
|
probably benign |
Het |
| Lrrc75a |
T |
C |
11: 62,496,813 (GRCm39) |
T250A |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,164,719 (GRCm39) |
S435P |
probably damaging |
Het |
| Myo1c |
T |
A |
11: 75,563,076 (GRCm39) |
V1036E |
probably damaging |
Het |
| Nlrp12 |
T |
G |
7: 3,289,316 (GRCm39) |
T399P |
probably damaging |
Het |
| Or2y16 |
A |
G |
11: 49,335,595 (GRCm39) |
R306G |
probably benign |
Het |
| Or4c118 |
A |
G |
2: 88,974,575 (GRCm39) |
F264S |
possibly damaging |
Het |
| Parp8 |
A |
T |
13: 117,031,600 (GRCm39) |
C332S |
possibly damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,098,053 (GRCm39) |
V780I |
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,480,292 (GRCm39) |
|
probably benign |
Het |
| Ppt1 |
T |
A |
4: 122,737,848 (GRCm39) |
I62K |
probably damaging |
Het |
| Proser3 |
T |
C |
7: 30,249,071 (GRCm39) |
N7S |
probably benign |
Het |
| Ptk2b |
A |
G |
14: 66,414,567 (GRCm39) |
L311P |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 156,988,786 (GRCm39) |
N706S |
probably benign |
Het |
| Ripk2 |
A |
G |
4: 16,132,775 (GRCm39) |
|
probably null |
Het |
| Setx |
T |
A |
2: 29,034,821 (GRCm39) |
H435Q |
probably damaging |
Het |
| Smurf2 |
T |
A |
11: 106,721,741 (GRCm39) |
|
probably benign |
Het |
| Snx32 |
A |
G |
19: 5,547,764 (GRCm39) |
L182P |
possibly damaging |
Het |
| Stpg2 |
A |
G |
3: 139,125,635 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
A |
G |
10: 23,816,997 (GRCm39) |
Y179C |
probably damaging |
Het |
| Tenm2 |
G |
A |
11: 35,918,232 (GRCm39) |
R1843* |
probably null |
Het |
| Tmco4 |
T |
C |
4: 138,748,260 (GRCm39) |
I280T |
probably damaging |
Het |
| Tuba4a |
C |
A |
1: 75,193,921 (GRCm39) |
C46F |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,703,603 (GRCm39) |
|
probably null |
Het |
| Vldlr |
A |
T |
19: 27,217,081 (GRCm39) |
I45L |
possibly damaging |
Het |
| Vmn2r120 |
C |
A |
17: 57,852,232 (GRCm39) |
G28V |
probably benign |
Het |
| Vmn2r37 |
C |
A |
7: 9,209,680 (GRCm39) |
V611L |
probably benign |
Het |
| Vmn2r67 |
A |
G |
7: 84,786,127 (GRCm39) |
L626P |
probably damaging |
Het |
| Wdr19 |
C |
T |
5: 65,379,082 (GRCm39) |
|
probably benign |
Het |
| Zfp595 |
T |
A |
13: 67,464,749 (GRCm39) |
K505* |
probably null |
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 |
|
IGL01664:Lmln
|
APN |
16 |
32,901,357 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
2013-10-07 |
Incidental Mutation