Incidental Mutation 'IGL01376:Mlkl'
| ID |
78730 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mlkl
|
| Ensembl Gene |
ENSMUSG00000012519 |
| Gene Name |
mixed lineage kinase domain-like |
| Synonyms |
9130019I15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
IGL01376
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
112038429-112064809 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112046379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 298
(L298P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056157]
[ENSMUST00000120432]
|
| AlphaFold |
Q9D2Y4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056157
AA Change: L298P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000055521
Gene: ENSMUSG00000012519
AA Change: L298P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
109 |
115 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
195 |
448 |
2.7e-41 |
PFAM |
|
Pfam:Pkinase
|
200 |
450 |
2.1e-30 |
PFAM |
|
Pfam:Kinase-like
|
270 |
438 |
1.6e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120432
AA Change: L298P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113718
Gene: ENSMUSG00000012519
AA Change: L298P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
109 |
115 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
195 |
453 |
3.3e-42 |
PFAM |
|
Pfam:Pkinase
|
196 |
453 |
1.4e-33 |
PFAM |
|
Pfam:Kinase-like
|
270 |
438 |
8.9e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212417
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene belongs to the protein kinase superfamily. The encoded protein contains a protein kinase-like domain; however, is thought to lack protein kinase activity. This protein plays a critical role in tumor necrosis factor (TNF)-induced necroptosis, a programmed cell death process, via interaction with receptor-interacting protein 3 (Rip3), which is a key signaling molecule in necroptosis pathway. Knockout of this gene in mice showed that it is essential for necroptosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit imapired macrophage and mouse embryonic fibroblast necroptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
T |
2: 35,245,640 (GRCm39) |
I61K |
probably benign |
Het |
| Acot12 |
A |
G |
13: 91,932,790 (GRCm39) |
Y521C |
probably damaging |
Het |
| Anxa7 |
T |
C |
14: 20,510,524 (GRCm39) |
N313D |
probably benign |
Het |
| Cdk14 |
T |
C |
5: 5,060,839 (GRCm39) |
I327M |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,531,812 (GRCm39) |
N664S |
possibly damaging |
Het |
| Cpb1 |
A |
C |
3: 20,324,488 (GRCm39) |
L62R |
probably benign |
Het |
| Cracdl |
A |
G |
1: 37,667,425 (GRCm39) |
L207P |
probably damaging |
Het |
| Eef2 |
G |
A |
10: 81,013,883 (GRCm39) |
|
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,489,283 (GRCm39) |
|
probably benign |
Het |
| Esco1 |
A |
T |
18: 10,594,892 (GRCm39) |
C131* |
probably null |
Het |
| Etv1 |
A |
T |
12: 38,907,039 (GRCm39) |
D347V |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,479,878 (GRCm39) |
I2975V |
probably benign |
Het |
| Ghsr |
A |
G |
3: 27,425,977 (GRCm39) |
E11G |
probably benign |
Het |
| Gins4 |
T |
C |
8: 23,717,343 (GRCm39) |
D166G |
probably benign |
Het |
| Iglv2 |
G |
T |
16: 19,079,315 (GRCm39) |
H62N |
possibly damaging |
Het |
| Irf2bp1 |
T |
C |
7: 18,739,952 (GRCm39) |
S531P |
possibly damaging |
Het |
| Lrig3 |
T |
A |
10: 125,830,335 (GRCm39) |
F144L |
probably benign |
Het |
| Magi1 |
C |
T |
6: 94,260,074 (GRCm39) |
R77Q |
possibly damaging |
Het |
| Ndc1 |
T |
C |
4: 107,232,394 (GRCm39) |
L193P |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,091,369 (GRCm39) |
T308S |
probably benign |
Het |
| Nt5dc3 |
A |
T |
10: 86,670,028 (GRCm39) |
Q541L |
probably benign |
Het |
| Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
| Or8k37 |
A |
C |
2: 86,469,953 (GRCm39) |
V33G |
probably benign |
Het |
| Parp10 |
G |
T |
15: 76,125,877 (GRCm39) |
T437K |
probably benign |
Het |
| Phf3 |
A |
G |
1: 30,869,566 (GRCm39) |
V494A |
possibly damaging |
Het |
| Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
| Sars2 |
T |
A |
7: 28,449,308 (GRCm39) |
Y307N |
probably damaging |
Het |
| Serping1 |
A |
T |
2: 84,600,529 (GRCm39) |
V271E |
probably damaging |
Het |
| Sgpl1 |
G |
A |
10: 60,949,849 (GRCm39) |
P117S |
probably damaging |
Het |
| Slc38a1 |
A |
C |
15: 96,483,437 (GRCm39) |
L297R |
probably damaging |
Het |
| Strbp |
A |
G |
2: 37,535,663 (GRCm39) |
M15T |
probably damaging |
Het |
| Tdp2 |
A |
G |
13: 25,020,932 (GRCm39) |
|
probably null |
Het |
| Tex10 |
T |
C |
4: 48,456,740 (GRCm39) |
Y657C |
possibly damaging |
Het |
| Xrcc4 |
A |
T |
13: 90,210,169 (GRCm39) |
S92T |
probably benign |
Het |
|
| Other mutations in Mlkl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Mlkl
|
APN |
8 |
112,046,060 (GRCm39) |
nonsense |
probably null |
|
|
IGL02801:Mlkl
|
APN |
8 |
112,043,064 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02965:Mlkl
|
APN |
8 |
112,058,469 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL03121:Mlkl
|
APN |
8 |
112,041,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Ghoulish
|
UTSW |
8 |
112,049,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
mecro
|
UTSW |
8 |
112,046,348 (GRCm39) |
critical splice donor site |
probably null |
|
|
necro
|
UTSW |
8 |
112,038,732 (GRCm39) |
intron |
probably benign |
|
|
secro
|
UTSW |
8 |
112,042,199 (GRCm39) |
intron |
probably benign |
|
|
R0133:Mlkl
|
UTSW |
8 |
112,054,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Mlkl
|
UTSW |
8 |
112,041,694 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0387:Mlkl
|
UTSW |
8 |
112,059,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0497:Mlkl
|
UTSW |
8 |
112,054,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0735:Mlkl
|
UTSW |
8 |
112,054,433 (GRCm39) |
unclassified |
probably benign |
|
|
R1733:Mlkl
|
UTSW |
8 |
112,049,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1761:Mlkl
|
UTSW |
8 |
112,060,355 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1911:Mlkl
|
UTSW |
8 |
112,038,732 (GRCm39) |
intron |
probably benign |
|
|
R2057:Mlkl
|
UTSW |
8 |
112,060,242 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2921:Mlkl
|
UTSW |
8 |
112,043,079 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3745:Mlkl
|
UTSW |
8 |
112,042,199 (GRCm39) |
intron |
probably benign |
|
|
R4760:Mlkl
|
UTSW |
8 |
112,046,348 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5377:Mlkl
|
UTSW |
8 |
112,054,569 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7052:Mlkl
|
UTSW |
8 |
112,046,074 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7155:Mlkl
|
UTSW |
8 |
112,046,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7459:Mlkl
|
UTSW |
8 |
112,060,162 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7728:Mlkl
|
UTSW |
8 |
112,060,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8036:Mlkl
|
UTSW |
8 |
112,060,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8064:Mlkl
|
UTSW |
8 |
112,038,700 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9088:Mlkl
|
UTSW |
8 |
112,049,365 (GRCm39) |
missense |
|
|
|
R9152:Mlkl
|
UTSW |
8 |
112,046,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9275:Mlkl
|
UTSW |
8 |
112,043,055 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Posted On |
2013-11-05 |
Incidental Mutation