Incidental Mutation 'R8185:Lmln'
ID |
634839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmln
|
Ensembl Gene |
ENSMUSG00000022802 |
Gene Name |
leishmanolysin-like (metallopeptidase M8 family) |
Synonyms |
5330415H22Rik |
MMRRC Submission |
067608-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.195)
|
Stock # |
R8185 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
32882891-32948065 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 32909690 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 357
(N357I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023497
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023497]
|
AlphaFold |
Q8BMN4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023497
AA Change: N357I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023497 Gene: ENSMUSG00000022802 AA Change: N357I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
C |
5: 88,120,011 (GRCm39) |
V256A |
possibly damaging |
Het |
Ackr3 |
G |
A |
1: 90,141,666 (GRCm39) |
V42M |
probably benign |
Het |
C9 |
T |
A |
15: 6,520,878 (GRCm39) |
I441N |
probably damaging |
Het |
Cd44 |
G |
A |
2: 102,654,665 (GRCm39) |
A667V |
possibly damaging |
Het |
Cdc23 |
T |
C |
18: 34,774,197 (GRCm39) |
N322D |
probably benign |
Het |
Chrm2 |
A |
G |
6: 36,500,824 (GRCm39) |
N227S |
probably benign |
Het |
Cnot1 |
C |
T |
8: 96,487,979 (GRCm39) |
R559Q |
probably damaging |
Het |
Cntnap4 |
A |
G |
8: 113,391,897 (GRCm39) |
N121D |
probably damaging |
Het |
Cog7 |
A |
G |
7: 121,576,969 (GRCm39) |
L63P |
probably damaging |
Het |
Cpne7 |
C |
T |
8: 123,854,168 (GRCm39) |
A285V |
probably benign |
Het |
Cpsf7 |
C |
T |
19: 10,514,224 (GRCm39) |
R343* |
probably null |
Het |
Cubn |
T |
G |
2: 13,299,129 (GRCm39) |
K3181N |
probably benign |
Het |
Dsg1a |
C |
T |
18: 20,473,669 (GRCm39) |
T914I |
probably damaging |
Het |
Ebf3 |
A |
T |
7: 136,827,607 (GRCm39) |
C255S |
possibly damaging |
Het |
Eif1ad5 |
T |
A |
12: 87,940,433 (GRCm39) |
W46R |
noncoding transcript |
Het |
Fasn |
A |
T |
11: 120,702,969 (GRCm39) |
I1658N |
probably benign |
Het |
Fcgr2b |
A |
G |
1: 170,794,020 (GRCm39) |
V210A |
probably damaging |
Het |
Flvcr1 |
G |
A |
1: 190,747,681 (GRCm39) |
P305S |
probably damaging |
Het |
Frem3 |
G |
T |
8: 81,338,933 (GRCm39) |
E409* |
probably null |
Het |
Gabrr2 |
T |
A |
4: 33,082,330 (GRCm39) |
D213E |
probably damaging |
Het |
Ggt1 |
T |
A |
10: 75,421,040 (GRCm39) |
D418E |
possibly damaging |
Het |
Immt |
C |
T |
6: 71,849,835 (GRCm39) |
Q530* |
probably null |
Het |
Ints10 |
T |
C |
8: 69,249,370 (GRCm39) |
F67L |
possibly damaging |
Het |
Kdm4c |
C |
T |
4: 74,291,821 (GRCm39) |
H813Y |
probably benign |
Het |
Klhl5 |
T |
A |
5: 65,313,471 (GRCm39) |
M395K |
probably damaging |
Het |
Klk1b11 |
T |
C |
7: 43,426,332 (GRCm39) |
I49T |
probably damaging |
Het |
Lpar1 |
A |
T |
4: 58,486,509 (GRCm39) |
M254K |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,410,894 (GRCm39) |
V554A |
probably damaging |
Het |
Melk |
G |
A |
4: 44,360,965 (GRCm39) |
V582I |
probably benign |
Het |
Mmp27 |
A |
G |
9: 7,573,492 (GRCm39) |
T195A |
unknown |
Het |
Nedd4l |
T |
C |
18: 65,342,769 (GRCm39) |
F781L |
probably damaging |
Het |
Nvl |
G |
A |
1: 180,971,739 (GRCm39) |
|
probably benign |
Het |
Nxpe4 |
G |
A |
9: 48,304,509 (GRCm39) |
D199N |
possibly damaging |
Het |
Or2k2 |
T |
C |
4: 58,785,542 (GRCm39) |
Y60C |
probably damaging |
Het |
Or8b8 |
A |
C |
9: 37,809,531 (GRCm39) |
Y277S |
probably damaging |
Het |
Ovol1 |
T |
C |
19: 5,601,542 (GRCm39) |
D160G |
probably damaging |
Het |
Ppp1r13l |
C |
T |
7: 19,106,863 (GRCm39) |
P453S |
probably benign |
Het |
Ppp1r37 |
C |
T |
7: 19,266,873 (GRCm39) |
G373S |
probably damaging |
Het |
Slc7a9 |
T |
C |
7: 35,151,842 (GRCm39) |
S46P |
probably damaging |
Het |
Sntn |
A |
G |
14: 13,679,014 (GRCm38) |
I63V |
probably benign |
Het |
Syde2 |
T |
C |
3: 145,694,667 (GRCm39) |
V305A |
probably benign |
Het |
Tpp1 |
A |
T |
7: 105,398,430 (GRCm39) |
|
probably null |
Het |
Vmn1r179 |
A |
T |
7: 23,628,163 (GRCm39) |
N118I |
possibly damaging |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
IGL01346:Lmln
|
APN |
16 |
32,937,490 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGGGTGTCCTTTAAAGTCAA -3'
(R):5'- TGGTTATTAACATGGGCTTCTTCTA -3'
Sequencing Primer
(F):5'- CAGTGGTCAAGAATGTTTCCTATGCC -3'
(R):5'- CTAACTTGATATGCCATGGCTG -3'
|
Posted On |
2020-07-13 |