Incidental Mutation 'IGL00089:Mlkl'
ID1363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mlkl
Ensembl Gene ENSMUSG00000012519
Gene Namemixed lineage kinase domain-like
Synonyms9130019I15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL00089
Quality Score
Status
Chromosome8
Chromosomal Location111311797-111338177 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 111319428 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 317 (R317*)
Ref Sequence ENSEMBL: ENSMUSP00000113718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056157] [ENSMUST00000120432]
Predicted Effect probably null
Transcript: ENSMUST00000056157
AA Change: R317*
SMART Domains Protein: ENSMUSP00000055521
Gene: ENSMUSG00000012519
AA Change: R317*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000120432
AA Change: R317*
SMART Domains Protein: ENSMUSP00000113718
Gene: ENSMUSG00000012519
AA Change: R317*

DomainStartEndE-ValueType
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,245,987 probably benign Het
A430033K04Rik T C 5: 138,647,592 S580P probably damaging Het
Abca12 T A 1: 71,303,541 I927F possibly damaging Het
Abca8a A G 11: 110,050,939 V1168A possibly damaging Het
Abcc1 T A 16: 14,460,983 N1052K probably benign Het
Adamts13 C A 2: 27,005,361 Q1155K probably benign Het
Adgre4 A T 17: 55,791,915 probably benign Het
AF529169 C T 9: 89,601,800 V515I probably benign Het
Ahsa2 T C 11: 23,496,837 E42G probably damaging Het
Ankk1 T G 9: 49,421,900 I95L probably benign Het
Anpep A T 7: 79,841,986 L89Q probably damaging Het
Arl5a T C 2: 52,416,071 N83S probably benign Het
Atp11b A G 3: 35,809,376 probably null Het
Atp6v0a2 T C 5: 124,721,777 F849L probably benign Het
BC106179 A G 16: 23,224,272 probably benign Het
Bcl2a1c T C 9: 114,330,540 *129Q probably null Het
C2cd5 T C 6: 143,017,945 I888V probably null Het
Calb2 A T 8: 110,145,671 L227Q probably damaging Het
Casc4 T C 2: 121,910,793 probably benign Het
Ccp110 G T 7: 118,722,424 C434F possibly damaging Het
Cd209c A T 8: 3,940,339 C160S probably damaging Het
Chmp1a A G 8: 123,209,019 probably null Het
Col6a6 T A 9: 105,758,191 probably null Het
Cyld T A 8: 88,705,457 C28S probably benign Het
Dapk1 A T 13: 60,761,040 I1156F probably benign Het
Dennd1a A T 2: 38,243,442 Y16* probably null Het
Dennd3 T G 15: 73,567,133 S1117A probably benign Het
Dgka A T 10: 128,733,086 D203E probably damaging Het
Dhx15 G T 5: 52,166,775 L392I probably damaging Het
Dnah10 A G 5: 124,746,616 D567G probably benign Het
Eaf1 T A 14: 31,504,526 probably null Het
Efnb2 T C 8: 8,660,589 D9G probably benign Het
Fcrla A T 1: 170,927,498 C15S probably benign Het
Flt3 T C 5: 147,354,876 N588S probably damaging Het
Gm10146 A T 10: 78,393,473 noncoding transcript Het
Gnpat T C 8: 124,876,914 probably benign Het
Gpr39 A C 1: 125,872,731 R406S probably benign Het
H2-Aa T C 17: 34,284,530 H31R probably damaging Het
Helz2 G T 2: 181,229,702 R2706S probably damaging Het
Hip1r T A 5: 123,989,735 probably null Het
Hnf4g A G 3: 3,648,082 T239A probably benign Het
Hps5 A T 7: 46,775,938 I413N probably damaging Het
Hspg2 G A 4: 137,528,820 G1413R probably damaging Het
Itgax T G 7: 128,135,326 M352R probably damaging Het
Katna1 T A 10: 7,762,804 M433K probably damaging Het
Kcna4 T G 2: 107,295,862 S314A probably damaging Het
Kif13b C T 14: 64,669,693 T42I possibly damaging Het
Krt78 G A 15: 101,947,510 T622I probably benign Het
Krt86 T A 15: 101,476,515 M263K possibly damaging Het
Lap3 A G 5: 45,506,169 probably benign Het
Lepr A T 4: 101,815,035 R1085S probably benign Het
Lmcd1 A G 6: 112,329,808 I314V probably benign Het
Luc7l2 T C 6: 38,608,170 probably benign Het
Mcm2 T A 6: 88,893,401 M117L probably benign Het
Mdh2 T C 5: 135,786,284 Y133H probably damaging Het
Mrps34 T C 17: 24,895,370 L68P probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myo18a A G 11: 77,847,938 E1299G probably damaging Het
Nlrp14 T C 7: 107,192,502 L139P possibly damaging Het
Nudcd2 A G 11: 40,736,586 D86G probably damaging Het
Olfr1212 T A 2: 88,958,766 I100N probably damaging Het
Olfr1318 A T 2: 112,156,067 M39L probably benign Het
Olfr819 T A 10: 129,965,804 R293W probably damaging Het
Patj T C 4: 98,465,106 F629L probably damaging Het
Rad23a A G 8: 84,835,895 F280L probably damaging Het
Ralgapa1 C A 12: 55,722,773 G811V probably damaging Het
St18 A G 1: 6,802,572 D177G probably benign Het
Sult1c2 A C 17: 53,833,119 Y159* probably null Het
Surf6 T A 2: 26,893,069 probably null Het
Susd6 T G 12: 80,870,067 probably benign Het
Sypl2 G A 3: 108,226,426 probably benign Het
Ubr5 A T 15: 37,984,036 F2289Y probably damaging Het
Vcl T C 14: 20,987,003 I223T probably benign Het
Vmn1r234 C T 17: 21,229,598 T258I possibly damaging Het
Vmn2r58 T A 7: 41,864,430 K263M possibly damaging Het
Vmo1 A T 11: 70,513,598 N192K probably damaging Het
Wrnip1 A G 13: 32,816,329 N440D probably damaging Het
Zc3h4 T C 7: 16,422,234 Y264H unknown Het
Zfp639 T G 3: 32,519,753 probably null Het
Zfp831 T C 2: 174,646,285 Y918H possibly damaging Het
Other mutations in Mlkl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Mlkl APN 8 111319747 missense probably damaging 1.00
IGL02801:Mlkl APN 8 111316432 missense probably benign 0.18
IGL02965:Mlkl APN 8 111331837 missense probably benign 0.31
IGL03121:Mlkl APN 8 111314980 missense probably damaging 1.00
Ghoulish UTSW 8 111322748 missense probably damaging 1.00
mecro UTSW 8 111319716 critical splice donor site probably null
necro UTSW 8 111312100 intron probably benign
secro UTSW 8 111315567 intron probably benign
R0133:Mlkl UTSW 8 111327948 missense probably damaging 1.00
R0230:Mlkl UTSW 8 111315062 missense probably benign 0.07
R0387:Mlkl UTSW 8 111333350 missense probably damaging 1.00
R0497:Mlkl UTSW 8 111327873 missense probably damaging 1.00
R0735:Mlkl UTSW 8 111327801 unclassified probably benign
R1733:Mlkl UTSW 8 111322748 missense probably damaging 1.00
R1761:Mlkl UTSW 8 111333723 missense possibly damaging 0.81
R1911:Mlkl UTSW 8 111312100 intron probably benign
R2057:Mlkl UTSW 8 111333610 missense probably benign 0.07
R2921:Mlkl UTSW 8 111316447 missense probably benign 0.02
R3745:Mlkl UTSW 8 111315567 intron probably benign
R4760:Mlkl UTSW 8 111319716 critical splice donor site probably null
R5377:Mlkl UTSW 8 111327937 missense probably benign 0.23
R7052:Mlkl UTSW 8 111319442 missense possibly damaging 0.65
R7155:Mlkl UTSW 8 111319403 missense probably damaging 1.00
R7459:Mlkl UTSW 8 111333530 missense probably benign 0.36
R7728:Mlkl UTSW 8 111333619 missense probably damaging 1.00
R8036:Mlkl UTSW 8 111333454 missense probably damaging 1.00
R8064:Mlkl UTSW 8 111312068 missense probably benign 0.38
Posted On2011-07-12