Incidental Mutation 'R3745:Mlkl'
| ID |
359700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mlkl
|
| Ensembl Gene |
ENSMUSG00000012519 |
| Gene Name |
mixed lineage kinase domain-like |
| Synonyms |
9130019I15Rik |
| MMRRC Submission |
040731-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R3745 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
112038429-112064809 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 112042199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056157]
[ENSMUST00000120432]
|
| AlphaFold |
Q9D2Y4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056157
|
| SMART Domains |
Protein: ENSMUSP00000055521
Gene: ENSMUSG00000012519
| 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 benign
Transcript: ENSMUST00000120432
|
| SMART Domains |
Protein: ENSMUSP00000113718
Gene: ENSMUSG00000012519
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (44/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Acot9 |
G |
A |
X: 154,054,941 (GRCm39) |
|
probably benign |
Het |
| Akap10 |
A |
G |
11: 61,806,131 (GRCm39) |
V199A |
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,297,647 (GRCm39) |
Y473N |
probably damaging |
Het |
| Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
| Astn1 |
G |
T |
1: 158,329,630 (GRCm39) |
A162S |
probably damaging |
Het |
| Atosa |
T |
C |
9: 74,917,144 (GRCm39) |
V581A |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,505,425 (GRCm39) |
|
probably benign |
Het |
| Cog6 |
A |
T |
3: 52,900,240 (GRCm39) |
M507K |
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Cyp2d11 |
A |
C |
15: 82,276,056 (GRCm39) |
I175S |
probably benign |
Het |
| Dclk1 |
A |
G |
3: 55,154,863 (GRCm39) |
N98D |
possibly damaging |
Het |
| Erich5 |
T |
A |
15: 34,470,878 (GRCm39) |
C36S |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,014,348 (GRCm39) |
I540V |
possibly damaging |
Het |
| Fam20a |
A |
T |
11: 109,568,616 (GRCm39) |
S303R |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gbp9 |
C |
A |
5: 105,253,724 (GRCm39) |
|
probably benign |
Het |
| Gm6408 |
G |
T |
5: 146,421,246 (GRCm39) |
V292F |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,742,637 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,006,717 (GRCm39) |
D1136G |
probably damaging |
Het |
| Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
| Msantd1 |
T |
A |
5: 35,080,811 (GRCm39) |
V155E |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,064,829 (GRCm39) |
|
probably benign |
Het |
| Nbn |
T |
A |
4: 15,976,163 (GRCm39) |
C375S |
possibly damaging |
Het |
| Nell2 |
A |
C |
15: 95,330,554 (GRCm39) |
C231W |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,388,358 (GRCm39) |
S421P |
probably benign |
Het |
| Npr3 |
A |
T |
15: 11,905,577 (GRCm39) |
V50E |
probably damaging |
Het |
| Or4d10 |
A |
G |
19: 12,051,744 (GRCm39) |
L84P |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,728,435 (GRCm39) |
|
probably benign |
Het |
| Pkn3 |
A |
G |
2: 29,980,353 (GRCm39) |
K785R |
probably damaging |
Het |
| Ppef2 |
T |
A |
5: 92,387,010 (GRCm39) |
|
probably benign |
Het |
| Prdm10 |
T |
C |
9: 31,251,703 (GRCm39) |
I357T |
possibly damaging |
Het |
| Prrc2c |
G |
A |
1: 162,525,754 (GRCm39) |
T284I |
unknown |
Het |
| Psma3 |
T |
C |
12: 71,025,522 (GRCm39) |
S13P |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rpl6l |
T |
C |
10: 110,962,226 (GRCm39) |
|
noncoding transcript |
Het |
| Tex11 |
A |
G |
X: 99,960,178 (GRCm39) |
V522A |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 129,605,978 (GRCm39) |
E573G |
probably benign |
Het |
| Tom1l1 |
A |
G |
11: 90,548,567 (GRCm39) |
S259P |
probably benign |
Het |
| Trpm8 |
A |
G |
1: 88,276,049 (GRCm39) |
E549G |
probably benign |
Het |
| Vmn1r66 |
C |
T |
7: 10,008,248 (GRCm39) |
A262T |
possibly damaging |
Het |
| Zc3h13 |
T |
A |
14: 75,568,101 (GRCm39) |
D1131E |
probably benign |
Het |
| Zfp445 |
A |
C |
9: 122,683,791 (GRCm39) |
D289E |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACATTAGAGAACCAAGAGTCCAGG -3'
(R):5'- AATCATTGCAGGGACACGGG -3'
Sequencing Primer
(F):5'- GGACAACACAGATAGGAAATTCC -3'
(R):5'- CTGCTTGGAACTGGAATTACAG -3'
|
| Posted On |
2015-11-30 |
Incidental Mutation