Incidental Mutation 'R1015:Map3k14'
ID 96186
Institutional Source Beutler Lab
Gene Symbol Map3k14
Ensembl Gene ENSMUSG00000020941
Gene Name mitogen-activated protein kinase kinase kinase 14
Synonyms Nik
MMRRC Submission 039119-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.721) question?
Stock # R1015 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 103110590-103158227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 103116126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 767 (Q767H)
Ref Sequence ENSEMBL: ENSMUSP00000021324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021324]
AlphaFold Q9WUL6
PDB Structure Crystal structure of apo murine Nf-kappaB inducing kinase (NIK) [X-RAY DIFFRACTION]
Crystal structure of murine NF-kappaB inducing kinase (NIK) bound to a 6-alkynylindoline (cmp1) [X-RAY DIFFRACTION]
Crystal structure of murine NF-kappaB inducing kinase (NIK) bound to a 2-(aminothiazoly)phenol (cmp2) [X-RAY DIFFRACTION]
Crystal structure of murine NF-kappaB inducing kinase (NIK) V408L bound to a 2-(aminothiazolyl)phenol (cmp3) [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000021324
AA Change: Q767H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021324
Gene: ENSMUSG00000020941
AA Change: Q767H

DomainStartEndE-ValueType
low complexity region 134 153 N/A INTRINSIC
Pfam:Pkinase 402 653 2.1e-42 PFAM
Pfam:Pkinase_Tyr 402 653 1.5e-24 PFAM
low complexity region 706 719 N/A INTRINSIC
low complexity region 760 774 N/A INTRINSIC
low complexity region 789 804 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146163
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit deficiencies in cellular and humoral immunity, susceptibility to infections, absence of lymph nodes and Peyer's patches, failure of isotype switching, and inflammation of exocrine organs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3d1 A G 10: 80,552,323 (GRCm39) V615A probably damaging Het
Atp6v1d A G 12: 78,896,543 (GRCm39) V108A possibly damaging Het
B3gnt6 C A 7: 97,843,802 (GRCm39) V53L probably benign Het
C8b A G 4: 104,644,157 (GRCm39) K275E probably benign Het
Cage1 T A 13: 38,200,451 (GRCm39) N683I possibly damaging Het
Celsr3 T C 9: 108,710,375 (GRCm39) V1535A probably benign Het
Cep120 C T 18: 53,836,193 (GRCm39) probably null Het
Cep135 T C 5: 76,788,844 (GRCm39) probably null Het
Chd9 T A 8: 91,659,206 (GRCm39) H55Q probably damaging Het
Dmxl2 G A 9: 54,275,049 (GRCm39) T2915I probably benign Het
Eps8l1 A T 7: 4,472,932 (GRCm39) D118V probably damaging Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Galnt2 C T 8: 125,063,356 (GRCm39) H359Y probably benign Het
Kdm5d T C Y: 941,687 (GRCm39) V1296A possibly damaging Het
Kif27 T A 13: 58,468,029 (GRCm39) K849N probably damaging Het
Kif5c T A 2: 49,634,377 (GRCm39) D736E probably benign Het
Krt18 T C 15: 101,939,735 (GRCm39) I311T probably benign Het
Lamc2 A T 1: 153,041,945 (GRCm39) V63D possibly damaging Het
Lmbrd1 T A 1: 24,770,959 (GRCm39) C295* probably null Het
Lrrc37 T C 11: 103,436,622 (GRCm39) H754R probably benign Het
Mapkapk5 T C 5: 121,671,425 (GRCm39) K203E probably benign Het
Mcc C A 18: 44,857,736 (GRCm39) L126F probably benign Het
Mib1 T A 18: 10,726,409 (GRCm39) H35Q probably damaging Het
Myo16 A G 8: 10,440,183 (GRCm39) N412D probably benign Het
Ndst2 T C 14: 20,780,132 (GRCm39) Y36C probably damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nwd2 T C 5: 63,964,154 (GRCm39) I1246T probably damaging Het
Or5d47 T C 2: 87,804,431 (GRCm39) T193A probably benign Het
Or5m9 T C 2: 85,877,426 (GRCm39) I200T possibly damaging Het
Patl1 T C 19: 11,897,737 (GRCm39) V108A probably benign Het
Pdzd2 T C 15: 12,374,594 (GRCm39) E1847G probably damaging Het
Pla2g2f C T 4: 138,481,579 (GRCm39) V57I probably benign Het
Prag1 T C 8: 36,613,697 (GRCm39) V1083A probably damaging Het
Slc3a2 C T 19: 8,685,319 (GRCm39) W227* probably null Het
Snx9 A G 17: 5,970,402 (GRCm39) I379M probably benign Het
Spata31e4 T G 13: 50,855,664 (GRCm39) V434G possibly damaging Het
Tacc2 A G 7: 130,225,795 (GRCm39) K846E probably benign Het
Taf4b T A 18: 14,946,155 (GRCm39) V326E probably damaging Het
Tnrc6c C T 11: 117,612,748 (GRCm39) S462F possibly damaging Het
Trim66 C T 7: 109,054,440 (GRCm39) V1257I probably damaging Het
Urb2 T C 8: 124,756,173 (GRCm39) Y627H probably damaging Het
Usp53 A G 3: 122,727,408 (GRCm39) L1058P probably benign Het
Wdr24 A G 17: 26,047,212 (GRCm39) S702G probably benign Het
Other mutations in Map3k14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Map3k14 APN 11 103,118,405 (GRCm39) missense probably damaging 1.00
IGL00590:Map3k14 APN 11 103,128,380 (GRCm39) missense probably damaging 1.00
IGL03065:Map3k14 APN 11 103,115,927 (GRCm39) missense probably damaging 1.00
lucky UTSW 11 103,249,558 (GRCm38) intron probably benign
Messer UTSW 11 103,132,958 (GRCm39) missense probably damaging 1.00
R0020:Map3k14 UTSW 11 103,118,500 (GRCm39) missense probably damaging 0.99
R0070:Map3k14 UTSW 11 103,130,380 (GRCm39) critical splice acceptor site probably null
R0294:Map3k14 UTSW 11 103,117,963 (GRCm39) missense possibly damaging 0.80
R0624:Map3k14 UTSW 11 103,133,117 (GRCm39) missense possibly damaging 0.77
R0734:Map3k14 UTSW 11 103,117,826 (GRCm39) missense probably benign 0.00
R1170:Map3k14 UTSW 11 103,129,743 (GRCm39) splice site probably benign
R1487:Map3k14 UTSW 11 103,116,163 (GRCm39) missense possibly damaging 0.48
R2204:Map3k14 UTSW 11 103,130,280 (GRCm39) missense possibly damaging 0.82
R2880:Map3k14 UTSW 11 103,111,858 (GRCm39) missense probably damaging 1.00
R4429:Map3k14 UTSW 11 103,118,410 (GRCm39) missense probably damaging 1.00
R4624:Map3k14 UTSW 11 103,121,927 (GRCm39) missense probably damaging 1.00
R4967:Map3k14 UTSW 11 103,130,357 (GRCm39) missense probably benign 0.00
R5098:Map3k14 UTSW 11 103,115,185 (GRCm39) missense probably damaging 1.00
R5148:Map3k14 UTSW 11 103,130,158 (GRCm39) missense probably benign
R5208:Map3k14 UTSW 11 103,129,972 (GRCm39) missense probably damaging 0.98
R5480:Map3k14 UTSW 11 103,130,330 (GRCm39) missense probably benign 0.03
R6697:Map3k14 UTSW 11 103,117,890 (GRCm39) missense probably benign 0.19
R6932:Map3k14 UTSW 11 103,132,958 (GRCm39) missense probably damaging 1.00
R7039:Map3k14 UTSW 11 103,111,861 (GRCm39) missense probably damaging 0.99
R7275:Map3k14 UTSW 11 103,117,848 (GRCm39) missense probably damaging 1.00
R7404:Map3k14 UTSW 11 103,129,918 (GRCm39) missense probably benign 0.01
R8810:Map3k14 UTSW 11 103,118,498 (GRCm39) missense possibly damaging 0.59
R8883:Map3k14 UTSW 11 103,130,278 (GRCm39) missense probably benign 0.39
R9023:Map3k14 UTSW 11 103,129,835 (GRCm39) missense possibly damaging 0.61
R9135:Map3k14 UTSW 11 103,128,364 (GRCm39) missense probably damaging 0.98
R9462:Map3k14 UTSW 11 103,118,360 (GRCm39) nonsense probably null
R9688:Map3k14 UTSW 11 103,130,059 (GRCm39) missense possibly damaging 0.48
T0970:Map3k14 UTSW 11 103,115,124 (GRCm39) nonsense probably null
X0023:Map3k14 UTSW 11 103,130,648 (GRCm39) missense probably damaging 1.00
Z1176:Map3k14 UTSW 11 103,121,899 (GRCm39) missense probably benign 0.02
Z1176:Map3k14 UTSW 11 103,116,322 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGATTTGTTCCTGTTCCTCCAGAGAG -3'
(R):5'- AGTGGGAGGTCTGAAAAGCCCTTG -3'

Sequencing Primer
(F):5'- TGTTCCTCCAGAGAGAACGG -3'
(R):5'- TACCTACTCCGCCGAGAGAG -3'
Posted On 2014-01-05