Incidental Mutation 'R1017:Lmln'
| ID |
96496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmln
|
| Ensembl Gene |
ENSMUSG00000022802 |
| Gene Name |
leishmanolysin-like (metallopeptidase M8 family) |
| Synonyms |
5330415H22Rik |
| MMRRC Submission |
039121-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R1017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32882891-32948065 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 32908546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 324
(I324R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023497]
|
| AlphaFold |
Q8BMN4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023497
AA Change: I324R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023497
Gene: ENSMUSG00000022802
AA Change: I324R
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153549
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
98% (47/48) |
| 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 |
|---|
| Acrbp |
C |
T |
6: 125,038,223 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,987,907 (GRCm39) |
I3064F |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,242,617 (GRCm39) |
R884L |
probably damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,145,443 (GRCm39) |
F317L |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,077,021 (GRCm39) |
I358N |
probably damaging |
Het |
| Ccin |
A |
G |
4: 43,985,222 (GRCm39) |
D543G |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,167,572 (GRCm39) |
D1806V |
probably damaging |
Het |
| Cdh6 |
C |
T |
15: 13,051,562 (GRCm39) |
R357Q |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,293,797 (GRCm39) |
M64V |
possibly damaging |
Het |
| Ctnnb1 |
T |
A |
9: 120,779,794 (GRCm39) |
F74I |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,307 (GRCm39) |
I302N |
probably damaging |
Het |
| Dnase1l2 |
C |
T |
17: 24,661,446 (GRCm39) |
A56T |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,634,633 (GRCm39) |
D190V |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,891,398 (GRCm39) |
|
probably null |
Het |
| Fscb |
T |
A |
12: 64,520,242 (GRCm39) |
D408V |
probably benign |
Het |
| Gm10306 |
A |
G |
4: 94,444,957 (GRCm39) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,765,803 (GRCm39) |
M409K |
probably benign |
Het |
| Gsx2 |
T |
C |
5: 75,237,923 (GRCm39) |
S292P |
probably damaging |
Het |
| Hira |
T |
A |
16: 18,718,097 (GRCm39) |
|
probably null |
Het |
| Hoxa3 |
G |
T |
6: 52,149,386 (GRCm39) |
|
probably null |
Het |
| Irak3 |
T |
C |
10: 119,978,789 (GRCm39) |
E554G |
possibly damaging |
Het |
| Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
C |
T |
8: 95,832,413 (GRCm39) |
D379N |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,837,213 (GRCm39) |
V1032A |
probably damaging |
Het |
| Ltbp4 |
A |
G |
7: 27,005,501 (GRCm39) |
S1547P |
possibly damaging |
Het |
| Mdga1 |
T |
A |
17: 30,069,522 (GRCm39) |
T175S |
probably damaging |
Het |
| Mrps6 |
T |
A |
16: 91,855,346 (GRCm39) |
L8* |
probably null |
Het |
| Mtmr11 |
A |
C |
3: 96,071,794 (GRCm39) |
T203P |
probably damaging |
Het |
| Nat8f7 |
T |
C |
6: 85,684,552 (GRCm39) |
D96G |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,889,179 (GRCm39) |
E7531G |
unknown |
Het |
| Or2k2 |
A |
T |
4: 58,785,115 (GRCm39) |
S202R |
probably damaging |
Het |
| Or8k25 |
A |
T |
2: 86,243,855 (GRCm39) |
D180E |
probably damaging |
Het |
| Or8k27 |
A |
T |
2: 86,275,772 (GRCm39) |
L185I |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,380,063 (GRCm39) |
Y69C |
probably damaging |
Het |
| Polrmt |
C |
T |
10: 79,579,343 (GRCm39) |
W136* |
probably null |
Het |
| Raver1 |
T |
C |
9: 20,990,886 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,021,116 (GRCm39) |
K2E |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,107,107 (GRCm39) |
T417I |
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,710,117 (GRCm39) |
K388R |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,583,277 (GRCm39) |
R88G |
probably damaging |
Het |
| Vldlr |
A |
C |
19: 27,218,733 (GRCm39) |
Y528S |
probably damaging |
Het |
| Zdhhc14 |
T |
A |
17: 5,543,924 (GRCm39) |
L68H |
probably damaging |
Het |
| Zfp605 |
C |
T |
5: 110,275,860 (GRCm39) |
T326I |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-05 |
Incidental Mutation