Incidental Mutation 'R8331:Map3k12'
ID 644394
Institutional Source Beutler Lab
Gene Symbol Map3k12
Ensembl Gene ENSMUSG00000023050
Gene Name mitogen-activated protein kinase kinase kinase 12
Synonyms MUK, DLK, Zpk
MMRRC Submission 067860-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8331 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 102406079-102425311 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 102410766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 448 (R448*)
Ref Sequence ENSEMBL: ENSMUSP00000023812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023812] [ENSMUST00000077037] [ENSMUST00000078404] [ENSMUST00000096145] [ENSMUST00000108838] [ENSMUST00000165174] [ENSMUST00000169162] [ENSMUST00000169367] [ENSMUST00000169377] [ENSMUST00000171565] [ENSMUST00000229061] [ENSMUST00000229184] [ENSMUST00000229618] [ENSMUST00000229802] [ENSMUST00000229854] [ENSMUST00000229918] [ENSMUST00000230114] [ENSMUST00000231085]
AlphaFold Q60700
Predicted Effect probably null
Transcript: ENSMUST00000023812
AA Change: R448*
SMART Domains Protein: ENSMUSP00000023812
Gene: ENSMUSG00000023050
AA Change: R448*

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 probably benign
Transcript: ENSMUST00000165174
Predicted Effect probably benign
Transcript: ENSMUST00000169162
Predicted Effect probably benign
Transcript: ENSMUST00000169367
Predicted Effect probably null
Transcript: ENSMUST00000169377
AA Change: R448*
SMART Domains Protein: ENSMUSP00000133209
Gene: ENSMUSG00000023050
AA Change: R448*

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 null
Transcript: ENSMUST00000171565
AA Change: R448*
SMART Domains Protein: ENSMUSP00000127629
Gene: ENSMUSG00000023050
AA Change: R448*

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: ENSMUST00000229061
Predicted Effect probably benign
Transcript: ENSMUST00000229184
Predicted Effect probably benign
Transcript: ENSMUST00000229432
Predicted Effect probably benign
Transcript: ENSMUST00000229618
Predicted Effect probably benign
Transcript: ENSMUST00000229802
Predicted Effect probably benign
Transcript: ENSMUST00000229854
Predicted Effect probably benign
Transcript: ENSMUST00000229918
Predicted Effect probably benign
Transcript: ENSMUST00000230114
Predicted Effect probably benign
Transcript: ENSMUST00000231085
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 C A 12: 84,650,726 (GRCm39) A545S probably damaging Het
Alox12e A T 11: 70,211,923 (GRCm39) S195R probably benign Het
Angpt1 T C 15: 42,539,653 (GRCm39) R69G probably damaging Het
Apob A G 12: 8,051,882 (GRCm39) Q1149R probably benign Het
As3mt A T 19: 46,697,445 (GRCm39) E71V probably damaging Het
Atp9a A T 2: 168,517,217 (GRCm39) V372E probably benign Het
Bmal1 C A 7: 112,912,703 (GRCm39) N586K probably benign Het
Bmp2k T C 5: 97,192,928 (GRCm39) F259S probably damaging Het
Cacna1c T C 6: 118,607,290 (GRCm39) T1364A Het
Casp7 T A 19: 56,429,397 (GRCm39) I261N probably damaging Het
Ccdc154 A G 17: 25,386,927 (GRCm39) K319E probably benign Het
Cdc42bpg C A 19: 6,363,477 (GRCm39) L446I probably benign Het
Cdkl3 A T 11: 51,917,704 (GRCm39) T334S probably benign Het
Cep250 T A 2: 155,832,173 (GRCm39) L1366Q probably damaging Het
Chp2 G A 7: 121,821,133 (GRCm39) D165N probably damaging Het
Ckap5 T A 2: 91,406,545 (GRCm39) M782K probably damaging Het
Col20a1 T A 2: 180,638,559 (GRCm39) I433N possibly damaging Het
Col4a2 A T 8: 11,463,985 (GRCm39) R320* probably null Het
Ctsc A G 7: 87,946,328 (GRCm39) H119R possibly damaging Het
Cubn T C 2: 13,345,053 (GRCm39) H2121R probably damaging Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
D630045J12Rik T C 6: 38,125,409 (GRCm39) E1535G probably damaging Het
Dido1 A T 2: 180,302,242 (GRCm39) D1887E probably benign Het
Dnah6 T C 6: 73,001,983 (GRCm39) E3903G probably benign Het
Eif4a3l2 T C 6: 116,529,323 (GRCm39) I400T probably damaging Het
Ep300 T C 15: 81,485,411 (GRCm39) S133P unknown Het
Ercc3 T C 18: 32,373,871 (GRCm39) S73P probably damaging Het
Fis1 T C 5: 136,991,987 (GRCm39) probably null Het
Fscb T A 12: 64,520,242 (GRCm39) D408V probably benign Het
Gm17087 A G 17: 8,785,539 (GRCm39) W55R probably damaging Het
Gm3404 A T 5: 146,462,759 (GRCm39) S41C probably damaging Het
Greb1l T C 18: 10,458,706 (GRCm39) S96P possibly damaging Het
Irf3 C T 7: 44,650,383 (GRCm39) P300S probably damaging Het
Klk1b4 G A 7: 43,860,999 (GRCm39) C214Y probably damaging Het
Krtap5-3 T A 7: 141,755,563 (GRCm39) C133* probably null Het
Map4k2 C G 19: 6,402,853 (GRCm39) A738G probably damaging Het
Matn2 A T 15: 34,428,827 (GRCm39) K730N probably damaging Het
Mpp3 C T 11: 101,902,541 (GRCm39) probably null Het
N4bp2 T A 5: 65,964,943 (GRCm39) D997E probably damaging Het
Nav2 C T 7: 49,102,371 (GRCm39) P390S probably benign Het
Nme8 A G 13: 19,843,036 (GRCm39) S380P probably damaging Het
Nup210 C T 6: 91,030,648 (GRCm39) D878N possibly damaging Het
Odad3 C T 9: 21,903,007 (GRCm39) R441H probably damaging Het
Or4k49 A G 2: 111,494,727 (GRCm39) D52G possibly damaging Het
Or8c18 A G 9: 38,203,381 (GRCm39) I47V possibly damaging Het
Osbpl9 C A 4: 108,923,378 (GRCm39) W427L probably damaging Het
Pcdhb12 T C 18: 37,570,342 (GRCm39) V496A probably damaging Het
Pdlim1 G A 19: 40,218,995 (GRCm39) T212I possibly damaging Het
Phc2 C T 4: 128,605,987 (GRCm39) Q270* probably null Het
Pi4kb G A 3: 94,903,995 (GRCm39) R527Q probably null Het
Platr25 G T 13: 62,848,717 (GRCm39) H48Q probably benign Het
Polr1a C T 6: 71,953,163 (GRCm39) T1577M probably damaging Het
Ptprf C T 4: 118,083,263 (GRCm39) V915M probably benign Het
Ptprh A G 7: 4,552,480 (GRCm39) L928S probably damaging Het
Qrsl1 T C 10: 43,752,521 (GRCm39) N434S probably damaging Het
Slc44a4 T A 17: 35,140,545 (GRCm39) L246H probably damaging Het
Steap3 A T 1: 120,169,218 (GRCm39) C360S possibly damaging Het
Stk10 A G 11: 32,538,928 (GRCm39) T256A Het
Tatdn3 A T 1: 190,778,408 (GRCm39) L261Q probably damaging Het
Thnsl1 T A 2: 21,216,985 (GRCm39) F246L probably benign Het
Thsd7a A G 6: 12,471,157 (GRCm39) V487A Het
Tmem41a A C 16: 21,766,116 (GRCm39) probably null Het
Togaram2 G A 17: 72,036,221 (GRCm39) V924M probably damaging Het
Trabd T C 15: 88,969,131 (GRCm39) F185S probably damaging Het
Traf1 T C 2: 34,838,370 (GRCm39) D156G probably damaging Het
Ttn T C 2: 76,710,482 (GRCm39) E8513G unknown Het
Txlna C A 4: 129,533,279 (GRCm39) S83I probably damaging Het
Utrn T G 10: 12,490,363 (GRCm39) T6P probably benign Het
Vmn2r26 T A 6: 124,038,887 (GRCm39) S821T probably benign Het
Wdhd1 A T 14: 47,509,702 (GRCm39) probably null Het
Wnk1 T C 6: 119,930,794 (GRCm39) I917V probably benign Het
Wscd2 A G 5: 113,688,996 (GRCm39) M1V probably null Het
Xkr6 A G 14: 64,056,392 (GRCm39) H357R unknown Het
Zfhx2 G T 14: 55,309,444 (GRCm39) T885K probably benign Het
Zfp583 C T 7: 6,320,554 (GRCm39) E153K probably benign Het
Zmynd11 A G 13: 9,745,190 (GRCm39) M243T probably benign 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
IGL02262:Map3k12 APN 15 102,410,510 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CATGAGGGCATTCAGTTCCATG -3'
(R):5'- ACCTTCCAATAGCACAGGTC -3'

Sequencing Primer
(F):5'- AGGGCATTCAGTTCCATGTACAG -3'
(R):5'- TCTGTGAAGTGACAGGGACATAGTC -3'
Posted On 2020-09-02