Incidental Mutation 'IGL03121:Mlkl'
ID |
409978 |
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 # |
IGL03121
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
112038429-112064809 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 112041612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 443
(R443W)
|
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: R443W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055521 Gene: ENSMUSG00000012519 AA Change: R443W
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: R443W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113718 Gene: ENSMUSG00000012519 AA Change: R443W
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B09Rik |
A |
G |
9: 14,672,946 (GRCm39) |
S4P |
possibly damaging |
Het |
A2m |
A |
G |
6: 121,618,265 (GRCm39) |
N186S |
probably benign |
Het |
Afg2a |
T |
C |
3: 37,518,800 (GRCm39) |
I778T |
probably damaging |
Het |
Ago1 |
T |
C |
4: 126,353,796 (GRCm39) |
K261R |
probably benign |
Het |
Alas1 |
G |
A |
9: 106,124,113 (GRCm39) |
P15L |
probably damaging |
Het |
Aox1 |
G |
A |
1: 58,398,113 (GRCm39) |
V1285M |
probably damaging |
Het |
Brd8 |
A |
T |
18: 34,739,740 (GRCm39) |
F678I |
probably damaging |
Het |
Col27a1 |
T |
A |
4: 63,143,446 (GRCm39) |
M378K |
probably benign |
Het |
Dpy19l4 |
C |
A |
4: 11,303,334 (GRCm39) |
V196F |
probably damaging |
Het |
Dst |
G |
T |
1: 34,256,884 (GRCm39) |
|
probably benign |
Het |
Hsd17b1 |
T |
A |
11: 100,970,870 (GRCm39) |
Y275* |
probably null |
Het |
Kdm3b |
A |
G |
18: 34,928,762 (GRCm39) |
E171G |
probably damaging |
Het |
Klc1 |
T |
C |
12: 111,748,076 (GRCm39) |
|
probably benign |
Het |
Mov10 |
A |
T |
3: 104,708,318 (GRCm39) |
V477E |
probably benign |
Het |
Nacad |
A |
G |
11: 6,550,933 (GRCm39) |
S753P |
probably damaging |
Het |
Ncapd2 |
A |
C |
6: 125,150,575 (GRCm39) |
M842R |
probably benign |
Het |
Nkd2 |
C |
A |
13: 73,969,498 (GRCm39) |
A311S |
probably benign |
Het |
Nrg1 |
A |
G |
8: 32,314,608 (GRCm39) |
|
probably benign |
Het |
Or4f6 |
A |
G |
2: 111,838,953 (GRCm39) |
Y193H |
probably benign |
Het |
Or6c68 |
A |
G |
10: 129,158,037 (GRCm39) |
I182V |
probably benign |
Het |
Pde6h |
A |
G |
6: 136,936,280 (GRCm39) |
S8G |
probably null |
Het |
Pik3c2b |
A |
G |
1: 133,007,483 (GRCm39) |
K616E |
probably benign |
Het |
Pnpt1 |
A |
T |
11: 29,082,845 (GRCm39) |
R54S |
probably benign |
Het |
Pramel38 |
T |
C |
5: 94,368,912 (GRCm39) |
V469A |
possibly damaging |
Het |
Rttn |
A |
G |
18: 88,993,875 (GRCm39) |
D184G |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,574,284 (GRCm39) |
I756F |
unknown |
Het |
Slc24a2 |
T |
C |
4: 87,145,143 (GRCm39) |
T304A |
probably benign |
Het |
Stk3 |
A |
T |
15: 35,099,572 (GRCm39) |
|
probably benign |
Het |
Trim69 |
A |
G |
2: 121,998,128 (GRCm39) |
I33M |
probably benign |
Het |
Ube2q2 |
A |
T |
9: 55,102,323 (GRCm39) |
|
probably benign |
Het |
Vmn1r67 |
T |
A |
7: 10,181,394 (GRCm39) |
N158K |
probably benign |
Het |
Wipi2 |
G |
A |
5: 142,648,857 (GRCm39) |
E252K |
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 |
|
IGL01376:Mlkl
|
APN |
8 |
112,046,379 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2016-08-02 |