Incidental Mutation 'IGL00672:Map3k10'
ID11896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k10
Ensembl Gene ENSMUSG00000040390
Gene Namemitogen-activated protein kinase kinase kinase 10
SynonymsMlk2, serine/threonine kinase, MKN28 derived nonreceptor_type, mixed lineage kinase 2, MKN28 kinase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00672
Quality Score
Status
Chromosome7
Chromosomal Location27656375-27674598 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27661601 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 496 (K496E)
Ref Sequence ENSEMBL: ENSMUSP00000103978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008088] [ENSMUST00000036453] [ENSMUST00000108341]
Predicted Effect probably benign
Transcript: ENSMUST00000008088
SMART Domains Protein: ENSMUSP00000008088
Gene: ENSMUSG00000007944

DomainStartEndE-ValueType
low complexity region 12 36 N/A INTRINSIC
low complexity region 49 65 N/A INTRINSIC
Blast:TPR 66 95 2e-7 BLAST
low complexity region 101 117 N/A INTRINSIC
Blast:TPR 133 168 1e-10 BLAST
Pfam:TPR_2 169 202 3.3e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000036453
AA Change: K496E

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037725
Gene: ENSMUSG00000040390
AA Change: K496E

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
SH3 19 80 6e-20 SMART
Pfam:Pkinase 98 357 7.4e-59 PFAM
Pfam:Pkinase_Tyr 98 357 3.8e-62 PFAM
coiled coil region 378 449 N/A INTRINSIC
low complexity region 501 511 N/A INTRINSIC
low complexity region 524 550 N/A INTRINSIC
low complexity region 665 676 N/A INTRINSIC
low complexity region 761 778 N/A INTRINSIC
low complexity region 835 847 N/A INTRINSIC
low complexity region 870 881 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108341
AA Change: K496E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103978
Gene: ENSMUSG00000040390
AA Change: K496E

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
SH3 19 80 6e-20 SMART
Pfam:Pkinase_Tyr 98 357 2e-62 PFAM
Pfam:Pkinase 98 358 4.8e-59 PFAM
coiled coil region 378 449 N/A INTRINSIC
low complexity region 501 511 N/A INTRINSIC
low complexity region 524 550 N/A INTRINSIC
low complexity region 665 676 N/A INTRINSIC
low complexity region 761 778 N/A INTRINSIC
low complexity region 837 849 N/A INTRINSIC
low complexity region 872 883 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152032
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit normal development, reproduction and lifespan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik A G 9: 50,746,436 probably benign Het
Adamts20 A G 15: 94,341,105 I744T probably damaging Het
Akap11 G A 14: 78,511,341 A1202V probably damaging Het
C130032M10Rik A G 9: 114,515,830 V340A probably damaging Het
Csnk1g1 G T 9: 66,007,746 S229I probably damaging Het
E130308A19Rik A G 4: 59,719,697 S410G probably benign Het
Eif2s2 T A 2: 154,887,709 I98L probably benign Het
En1 T C 1: 120,606,938 F319L unknown Het
Fmnl3 A T 15: 99,325,681 Y345N probably damaging Het
Fras1 T C 5: 96,759,450 probably benign Het
Gm12695 A G 4: 96,749,182 L366P probably damaging Het
Golga3 T C 5: 110,212,244 L1156S probably damaging Het
Gpcpd1 G T 2: 132,530,548 probably benign Het
Hvcn1 C A 5: 122,238,471 F155L probably benign Het
Jcad T C 18: 4,674,835 S866P possibly damaging Het
Kdm4c A G 4: 74,343,514 N642S probably benign Het
Kif2c T C 4: 117,178,246 I2V probably benign Het
Klri2 T A 6: 129,733,071 I189F probably damaging Het
Lair1 T A 7: 4,028,731 T126S probably benign Het
Lins1 A T 7: 66,714,531 K725* probably null Het
Lman2l T A 1: 36,438,834 probably null Het
Nr2f2 A G 7: 70,357,766 S170P possibly damaging Het
Polr1b G A 2: 129,125,472 M928I probably damaging Het
Rffl G A 11: 82,818,484 P38S probably damaging Het
Rtl1 T C 12: 109,593,000 S802G probably benign Het
Sema5a A G 15: 32,618,880 E518G probably benign Het
Smdt1 G A 15: 82,346,183 V34I possibly damaging Het
Ssr3 C A 3: 65,391,410 A59S probably benign Het
Stk4 A G 2: 164,118,079 K59E probably benign Het
Syne2 C T 12: 76,064,184 T1024M probably damaging Het
Taf5 A T 19: 47,082,301 D723V probably damaging Het
Tescl T C 7: 24,333,610 T97A probably benign Het
Thada A T 17: 84,444,218 S443R probably benign Het
Trp53bp2 A T 1: 182,440,976 H205L probably benign Het
Ube4b A G 4: 149,381,366 V209A probably benign Het
Zfp957 G T 14: 79,213,398 D320E unknown Het
Zfr2 T C 10: 81,242,085 S249P probably damaging Het
Zmpste24 A G 4: 121,065,860 I386T probably damaging Het
Other mutations in Map3k10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Map3k10 APN 7 27668469 missense probably damaging 1.00
IGL00913:Map3k10 APN 7 27663215 unclassified probably benign
IGL01383:Map3k10 APN 7 27657999 missense probably benign 0.15
IGL02683:Map3k10 APN 7 27658937 missense probably damaging 1.00
R0039:Map3k10 UTSW 7 27658098 missense possibly damaging 0.95
R0219:Map3k10 UTSW 7 27656731 missense probably damaging 1.00
R0285:Map3k10 UTSW 7 27673900 missense probably benign 0.00
R0368:Map3k10 UTSW 7 27663360 missense probably damaging 0.98
R0724:Map3k10 UTSW 7 27668355 missense probably damaging 1.00
R0729:Map3k10 UTSW 7 27661567 missense probably damaging 1.00
R1734:Map3k10 UTSW 7 27658115 missense probably damaging 1.00
R1847:Map3k10 UTSW 7 27661556 unclassified probably null
R2395:Map3k10 UTSW 7 27673993 missense unknown
R2517:Map3k10 UTSW 7 27663263 missense possibly damaging 0.92
R3841:Map3k10 UTSW 7 27658364 missense possibly damaging 0.91
R4749:Map3k10 UTSW 7 27658361 missense possibly damaging 0.78
R5269:Map3k10 UTSW 7 27658532 missense probably benign 0.01
R5822:Map3k10 UTSW 7 27656734 missense probably damaging 1.00
R6059:Map3k10 UTSW 7 27656822 missense probably damaging 0.99
R6417:Map3k10 UTSW 7 27663284 missense probably damaging 1.00
R6420:Map3k10 UTSW 7 27663284 missense probably damaging 1.00
R7903:Map3k10 UTSW 7 27657957 missense probably damaging 0.99
R7986:Map3k10 UTSW 7 27657957 missense probably damaging 0.99
X0020:Map3k10 UTSW 7 27664462 missense probably damaging 1.00
Posted On2012-12-06