Incidental Mutation 'IGL01615:Map3k12'
ID92343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k12
Ensembl Gene ENSMUSG00000023050
Gene Namemitogen-activated protein kinase kinase kinase 12
SynonymsMUK, DLK, Zpk
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01615
Quality Score
Status
Chromosome15
Chromosomal Location102497646-102517064 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 102503751 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 318 (E318D)
Ref Sequence ENSEMBL: ENSMUSP00000127629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023812] [ENSMUST00000077037] [ENSMUST00000078404] [ENSMUST00000096145] [ENSMUST00000108838] [ENSMUST00000165174] [ENSMUST00000169162] [ENSMUST00000169367] [ENSMUST00000169377] [ENSMUST00000171565] [ENSMUST00000229618] [ENSMUST00000229854]
Predicted Effect probably damaging
Transcript: ENSMUST00000023812
AA Change: E318D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023812
Gene: ENSMUSG00000023050
AA Change: E318D

DomainStartEndE-ValueType
low complexity region 54 75 N/A INTRINSIC
Pfam:Pkinase 158 397 3.3e-59 PFAM
Pfam:Pkinase_Tyr 159 397 2.7e-62 PFAM
coiled coil region 447 501 N/A INTRINSIC
low complexity region 559 577 N/A INTRINSIC
low complexity region 599 617 N/A INTRINSIC
low complexity region 640 663 N/A INTRINSIC
low complexity region 664 678 N/A INTRINSIC
low complexity region 691 727 N/A INTRINSIC
low complexity region 751 764 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000077037
SMART Domains Protein: ENSMUSP00000076294
Gene: ENSMUSG00000056851

DomainStartEndE-ValueType
KH 12 80 5.96e-15 SMART
KH 96 167 2.48e-12 SMART
KH 283 353 5.19e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078404
SMART Domains Protein: ENSMUSP00000077509
Gene: ENSMUSG00000056851

DomainStartEndE-ValueType
KH 12 80 5.96e-15 SMART
KH 96 167 2.48e-12 SMART
KH 270 340 5.19e-15 SMART
Predicted Effect silent
Transcript: ENSMUST00000096145
SMART Domains Protein: ENSMUSP00000093859
Gene: ENSMUSG00000071586

DomainStartEndE-ValueType
low complexity region 29 37 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108838
SMART Domains Protein: ENSMUSP00000104466
Gene: ENSMUSG00000056851

DomainStartEndE-ValueType
KH 12 80 5.96e-15 SMART
KH 96 167 2.48e-12 SMART
KH 252 322 5.19e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164343
Predicted Effect probably benign
Transcript: ENSMUST00000165174
Predicted Effect probably benign
Transcript: ENSMUST00000169162
Predicted Effect probably benign
Transcript: ENSMUST00000169367
Predicted Effect probably damaging
Transcript: ENSMUST00000169377
AA Change: E318D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133209
Gene: ENSMUSG00000023050
AA Change: E318D

DomainStartEndE-ValueType
low complexity region 54 75 N/A INTRINSIC
Pfam:Pkinase 159 397 1.2e-58 PFAM
Pfam:Pkinase_Tyr 160 397 3.7e-62 PFAM
coiled coil region 447 501 N/A INTRINSIC
low complexity region 559 577 N/A INTRINSIC
low complexity region 599 617 N/A INTRINSIC
low complexity region 640 663 N/A INTRINSIC
low complexity region 664 678 N/A INTRINSIC
low complexity region 691 727 N/A INTRINSIC
low complexity region 751 764 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171565
AA Change: E318D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127629
Gene: ENSMUSG00000023050
AA Change: E318D

DomainStartEndE-ValueType
low complexity region 54 75 N/A INTRINSIC
Pfam:Pkinase 158 397 3.3e-59 PFAM
Pfam:Pkinase_Tyr 159 397 2.7e-62 PFAM
coiled coil region 447 501 N/A INTRINSIC
low complexity region 559 577 N/A INTRINSIC
low complexity region 599 617 N/A INTRINSIC
low complexity region 640 663 N/A INTRINSIC
low complexity region 664 678 N/A INTRINSIC
low complexity region 691 727 N/A INTRINSIC
low complexity region 751 764 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229822
Predicted Effect probably benign
Transcript: ENSMUST00000229854
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. Alternatively spliced transcript variants encoding different proteins have been described.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a gene-trapped allele lack the brain anterior commissure. Mice homozygous for a knock-out allele exhibit postnatal lethality and abnormal axon growth and radial migration of neocortical pyramidal neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 T C 18: 80,128,477 T906A probably damaging Het
Akap13 A G 7: 75,697,393 S1731G probably damaging Het
Apbb2 A G 5: 66,307,701 V650A probably benign Het
Appl1 A G 14: 26,959,470 probably benign Het
Avpr1b T G 1: 131,600,147 V136G probably damaging Het
B020004J07Rik T A 4: 101,837,004 R227S possibly damaging Het
C6 T C 15: 4,781,896 F409L probably benign Het
Cdk20 A G 13: 64,436,310 probably benign Het
Cenpf T C 1: 189,653,184 K2300E possibly damaging Het
Cfap57 C T 4: 118,600,796 R399Q probably damaging Het
Cnnm1 A T 19: 43,471,936 S706C probably benign Het
Cr1l T C 1: 195,129,881 I45V possibly damaging Het
D130043K22Rik A T 13: 24,899,796 R1081S probably damaging Het
Ddx60 A T 8: 61,963,740 H573L probably null Het
Eif5b T C 1: 38,045,706 L878S probably damaging Het
Ets1 T C 9: 32,732,939 probably benign Het
Evi5 A G 5: 107,764,707 L696P probably damaging Het
Fbxo18 C A 2: 11,757,523 E12* probably null Het
Gabpb1 C A 2: 126,653,600 M77I possibly damaging Het
Glul T A 1: 153,906,476 N152K probably benign Het
Gm45234 T C 6: 124,746,431 Y613C probably damaging Het
Gm5611 A G 9: 17,030,351 noncoding transcript Het
Gm6583 A G 5: 112,355,830 S3P possibly damaging Het
Gpr156 T A 16: 37,988,591 I225K probably damaging Het
Herc4 T C 10: 63,290,682 probably benign Het
Iqsec3 C T 6: 121,410,621 V720M probably damaging Het
Itgam A T 7: 128,116,767 H1104L possibly damaging Het
Itgb3 T A 11: 104,643,965 D549E probably damaging Het
Kctd7 A T 5: 130,148,135 M76L probably damaging Het
Kdm3b T G 18: 34,829,231 N1523K probably damaging Het
Mc1r T C 8: 123,408,050 Y181H probably damaging Het
Mex3c G A 18: 73,573,632 A197T unknown Het
Mvk A G 5: 114,446,292 D71G probably benign Het
Ndufb3 T A 1: 58,595,753 L88* probably null Het
Olfr476 A G 7: 107,967,937 D180G probably damaging Het
Olfr684 A G 7: 105,157,460 V74A probably benign Het
Pifo G T 3: 105,997,207 probably null Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Slc5a3 C T 16: 92,079,112 Q686* probably null Het
Vmn2r75 T C 7: 86,148,473 I711V probably benign Het
Vps13c T A 9: 67,955,781 H3026Q probably benign Het
Zfp354c A G 11: 50,817,905 S22P possibly damaging Het
Other mutations in Map3k12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01713:Map3k12 APN 15 102502321 missense probably damaging 1.00
IGL01720:Map3k12 APN 15 102502186 unclassified probably benign
IGL02262:Map3k12 APN 15 102502075 missense probably damaging 1.00
IGL02670:Map3k12 APN 15 102503546 missense probably benign 0.09
IGL03004:Map3k12 APN 15 102504196 missense possibly damaging 0.96
IGL03369:Map3k12 APN 15 102502079 missense possibly damaging 0.47
react UTSW 15 102505402 missense probably damaging 1.00
R0894:Map3k12 UTSW 15 102502178 missense probably damaging 1.00
R0918:Map3k12 UTSW 15 102503852 missense probably damaging 0.99
R1547:Map3k12 UTSW 15 102503852 missense probably damaging 1.00
R1844:Map3k12 UTSW 15 102503535 missense probably damaging 1.00
R1880:Map3k12 UTSW 15 102502064 critical splice donor site probably null
R2292:Map3k12 UTSW 15 102500139 missense probably damaging 0.96
R4397:Map3k12 UTSW 15 102501259 missense probably benign 0.44
R4406:Map3k12 UTSW 15 102505402 missense probably damaging 1.00
R4407:Map3k12 UTSW 15 102505402 missense probably damaging 1.00
R4408:Map3k12 UTSW 15 102505402 missense probably damaging 1.00
R4731:Map3k12 UTSW 15 102501282 missense probably benign 0.28
R5074:Map3k12 UTSW 15 102501832 critical splice donor site probably null
R5605:Map3k12 UTSW 15 102503865 missense probably benign 0.17
R5848:Map3k12 UTSW 15 102504235 missense possibly damaging 0.66
R6232:Map3k12 UTSW 15 102503646 missense probably damaging 0.99
R6901:Map3k12 UTSW 15 102500629 missense possibly damaging 0.95
R6901:Map3k12 UTSW 15 102500630 missense possibly damaging 0.65
R6946:Map3k12 UTSW 15 102505134 missense possibly damaging 0.89
R7291:Map3k12 UTSW 15 102502166 missense probably damaging 1.00
Posted On2013-12-09