Incidental Mutation 'IGL02262:Map3k12'
ID 286786
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k12
Ensembl Gene ENSMUSG00000023050
Gene Name mitogen-activated protein kinase kinase kinase 12
Synonyms MUK, DLK, Zpk
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02262
Quality Score
Status
Chromosome 15
Chromosomal Location 102406079-102425311 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102410510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 489 (E489G)
Ref Sequence ENSEMBL: ENSMUSP00000127629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023812] [ENSMUST00000077037] [ENSMUST00000078404] [ENSMUST00000096145] [ENSMUST00000108838] [ENSMUST00000169377] [ENSMUST00000171565] [ENSMUST00000165174] [ENSMUST00000229854] [ENSMUST00000229184] [ENSMUST00000169367] [ENSMUST00000229618] [ENSMUST00000169162] [ENSMUST00000229061] [ENSMUST00000229802] [ENSMUST00000229918] [ENSMUST00000231085] [ENSMUST00000230114]
AlphaFold Q60700
Predicted Effect probably damaging
Transcript: ENSMUST00000023812
AA Change: E489G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023812
Gene: ENSMUSG00000023050
AA Change: E489G

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 probably benign
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 damaging
Transcript: ENSMUST00000169377
AA Change: E489G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133209
Gene: ENSMUSG00000023050
AA Change: E489G

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: E489G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127629
Gene: ENSMUSG00000023050
AA Change: E489G

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 noncoding transcript
Transcript: ENSMUST00000229822
Predicted Effect probably benign
Transcript: ENSMUST00000165174
Predicted Effect probably benign
Transcript: ENSMUST00000229854
Predicted Effect probably benign
Transcript: ENSMUST00000229184
Predicted Effect probably benign
Transcript: ENSMUST00000169367
Predicted Effect probably benign
Transcript: ENSMUST00000229432
Predicted Effect probably benign
Transcript: ENSMUST00000229618
Predicted Effect probably benign
Transcript: ENSMUST00000169162
Predicted Effect probably benign
Transcript: ENSMUST00000229061
Predicted Effect probably benign
Transcript: ENSMUST00000229802
Predicted Effect probably benign
Transcript: ENSMUST00000229918
Predicted Effect probably benign
Transcript: ENSMUST00000231085
Predicted Effect probably benign
Transcript: ENSMUST00000230114
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230631
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 G T 10: 14,317,140 (GRCm39) A560E probably benign Het
Apol7c A T 15: 77,410,013 (GRCm39) M311K probably benign Het
Arap2 A C 5: 62,800,184 (GRCm39) V1281G probably damaging Het
Cacna1s C T 1: 136,035,867 (GRCm39) T1388I probably damaging Het
Dcaf13 T C 15: 38,982,102 (GRCm39) probably benign Het
Dscaml1 G A 9: 45,656,414 (GRCm39) G1585S probably benign Het
Dscaml1 G A 9: 45,643,378 (GRCm39) V1266I probably benign Het
Epc1 A G 18: 6,437,278 (GRCm39) L750P probably damaging Het
Fgd6 T A 10: 93,961,490 (GRCm39) M1108K probably damaging Het
Gm14496 T C 2: 181,637,805 (GRCm39) I293T probably damaging Het
Gm21759 T C 5: 8,230,747 (GRCm39) probably benign Het
Igkv3-10 A T 6: 70,550,154 (GRCm39) D100V possibly damaging Het
Ipo13 A C 4: 117,761,010 (GRCm39) I569M probably damaging Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Kif26b A G 1: 178,743,633 (GRCm39) Y1243C probably benign Het
Mtcl2 A T 2: 156,872,826 (GRCm39) V895E probably damaging Het
Nrxn1 A G 17: 91,011,636 (GRCm39) V331A probably damaging Het
Ntrk1 G A 3: 87,689,104 (GRCm39) L529F probably damaging Het
Obscn A T 11: 58,919,359 (GRCm39) C6882S possibly damaging Het
Or14j5 A C 17: 38,162,154 (GRCm39) T224P probably damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Ppp1r13b C A 12: 111,801,645 (GRCm39) L346F possibly damaging Het
Psg22 T C 7: 18,458,496 (GRCm39) S396P probably damaging Het
Rbm19 A G 5: 120,281,470 (GRCm39) E797G probably damaging Het
Ros1 T G 10: 52,055,065 (GRCm39) D79A probably damaging Het
Scn10a C T 9: 119,487,499 (GRCm39) V612I possibly damaging Het
Sema4c A G 1: 36,589,422 (GRCm39) V568A probably damaging Het
Traf5 A G 1: 191,729,636 (GRCm39) F472L probably damaging Het
Trim30b C T 7: 104,015,107 (GRCm39) V94M probably damaging Het
Wasl A T 6: 24,619,186 (GRCm39) S445T unknown Het
Zfp541 A G 7: 15,813,620 (GRCm39) K758E probably damaging Het
Other mutations in Map3k12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01615:Map3k12 APN 15 102,412,186 (GRCm39) missense probably damaging 1.00
IGL01713:Map3k12 APN 15 102,410,756 (GRCm39) missense probably damaging 1.00
IGL01720:Map3k12 APN 15 102,410,621 (GRCm39) unclassified probably benign
IGL02670:Map3k12 APN 15 102,411,981 (GRCm39) missense probably benign 0.09
IGL03004:Map3k12 APN 15 102,412,631 (GRCm39) missense possibly damaging 0.96
IGL03369:Map3k12 APN 15 102,410,514 (GRCm39) missense possibly damaging 0.47
react UTSW 15 102,413,837 (GRCm39) missense probably damaging 1.00
R0894:Map3k12 UTSW 15 102,410,613 (GRCm39) missense probably damaging 1.00
R0918:Map3k12 UTSW 15 102,412,287 (GRCm39) missense probably damaging 0.99
R1547:Map3k12 UTSW 15 102,412,287 (GRCm39) missense probably damaging 1.00
R1844:Map3k12 UTSW 15 102,411,970 (GRCm39) missense probably damaging 1.00
R1880:Map3k12 UTSW 15 102,410,499 (GRCm39) critical splice donor site probably null
R2292:Map3k12 UTSW 15 102,408,574 (GRCm39) missense probably damaging 0.96
R4397:Map3k12 UTSW 15 102,409,694 (GRCm39) missense probably benign 0.44
R4406:Map3k12 UTSW 15 102,413,837 (GRCm39) missense probably damaging 1.00
R4407:Map3k12 UTSW 15 102,413,837 (GRCm39) missense probably damaging 1.00
R4408:Map3k12 UTSW 15 102,413,837 (GRCm39) missense probably damaging 1.00
R4731:Map3k12 UTSW 15 102,409,717 (GRCm39) missense probably benign 0.28
R5074:Map3k12 UTSW 15 102,410,267 (GRCm39) critical splice donor site probably null
R5605:Map3k12 UTSW 15 102,412,300 (GRCm39) missense probably benign 0.17
R5848:Map3k12 UTSW 15 102,412,670 (GRCm39) missense possibly damaging 0.66
R6232:Map3k12 UTSW 15 102,412,081 (GRCm39) missense probably damaging 0.99
R6901:Map3k12 UTSW 15 102,409,065 (GRCm39) missense possibly damaging 0.65
R6901:Map3k12 UTSW 15 102,409,064 (GRCm39) missense possibly damaging 0.95
R6946:Map3k12 UTSW 15 102,413,569 (GRCm39) missense possibly damaging 0.89
R7291:Map3k12 UTSW 15 102,410,601 (GRCm39) missense probably damaging 1.00
R7874:Map3k12 UTSW 15 102,409,077 (GRCm39) missense possibly damaging 0.91
R8331:Map3k12 UTSW 15 102,410,766 (GRCm39) nonsense probably null
R8460:Map3k12 UTSW 15 102,410,032 (GRCm39) missense probably damaging 1.00
R8784:Map3k12 UTSW 15 102,413,797 (GRCm39) missense possibly damaging 0.51
Posted On 2015-04-16