Incidental Mutation 'R5148:Map3k14'
ID 395210
Institutional Source Beutler Lab
Gene Symbol Map3k14
Ensembl Gene ENSMUSG00000020941
Gene Name mitogen-activated protein kinase kinase kinase 14
Synonyms Nik
MMRRC Submission 043262-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.721) question?
Stock # R5148 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 103110590-103158227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103130158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 253 (H253R)
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 benign
Transcript: ENSMUST00000021324
AA Change: H253R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021324
Gene: ENSMUSG00000020941
AA Change: H253R

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: ENSMUST00000152300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152677
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (48/48)
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
Ank2 A T 3: 126,819,285 (GRCm39) probably null Het
Atf7 A G 15: 102,455,608 (GRCm39) M252T probably benign Het
Cacna1h C A 17: 25,606,519 (GRCm39) D1027Y probably damaging Het
Cngb1 A G 8: 95,992,611 (GRCm39) V667A probably benign Het
Cntf T C 19: 12,741,368 (GRCm39) E164G probably damaging Het
Dbt T C 3: 116,321,893 (GRCm39) probably benign Het
Egfem1 G A 3: 29,511,972 (GRCm39) probably benign Het
Gm12790 C T 4: 101,825,268 (GRCm39) V49I possibly damaging Het
Gm5444 C T 13: 4,884,314 (GRCm39) noncoding transcript Het
Gpcpd1 A T 2: 132,376,110 (GRCm39) Y574* probably null Het
Gss G T 2: 155,415,029 (GRCm39) N225K possibly damaging Het
Il17rc G T 6: 113,459,958 (GRCm39) A635S probably benign Het
Lhfpl5 T A 17: 28,798,942 (GRCm39) D150E probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrrc40 T G 3: 157,760,206 (GRCm39) probably null Het
Ly6f A G 15: 75,143,646 (GRCm39) T118A probably benign Het
Malrd1 A G 2: 16,147,037 (GRCm39) N1960D unknown Het
Morc2a T C 11: 3,639,084 (GRCm39) L1025P probably damaging Het
Nlrc5 G T 8: 95,203,321 (GRCm39) G474W probably damaging Het
Olr1 G T 6: 129,470,572 (GRCm39) D198E probably benign Het
Or5b123 C A 19: 13,596,874 (GRCm39) S116* probably null Het
Or5d14 G A 2: 87,880,737 (GRCm39) T77I probably benign Het
Or8c16 T C 9: 38,130,317 (GRCm39) I66T probably benign Het
Pafah1b1 A T 11: 74,575,278 (GRCm39) S209T probably damaging Het
Phf14 A T 6: 11,961,641 (GRCm39) Y426F possibly damaging Het
Phldb1 A G 9: 44,615,455 (GRCm39) V855A probably benign Het
Pira2 T G 7: 3,847,592 (GRCm39) R32S possibly damaging Het
Pnldc1 T C 17: 13,111,676 (GRCm39) I344V probably benign Het
Prss29 T C 17: 25,539,881 (GRCm39) V93A probably benign Het
Ptpn13 C T 5: 103,640,098 (GRCm39) L186F probably damaging Het
Ralgps1 A C 2: 33,048,999 (GRCm39) C303W probably damaging Het
Sdr42e1 T A 8: 118,390,342 (GRCm39) N100Y probably damaging Het
Serpina11 A T 12: 103,952,503 (GRCm39) L96Q probably damaging Het
Slc12a8 G A 16: 33,445,288 (GRCm39) R448H probably benign Het
Snrpd1 T A 18: 10,626,892 (GRCm39) V53E probably benign Het
Ssbp1 T C 6: 40,454,883 (GRCm39) V114A possibly damaging Het
T A G 17: 8,655,037 (GRCm39) E47G probably damaging Het
Tmem156 T C 5: 65,231,111 (GRCm39) K189R probably benign Het
Trim47 G T 11: 115,998,678 (GRCm39) Q314K possibly damaging Het
Vmn2r3 G T 3: 64,186,247 (GRCm39) P146Q probably damaging Het
Vmn2r6 A C 3: 64,464,015 (GRCm39) V273G probably damaging Het
Wrnip1 G T 13: 32,990,839 (GRCm39) R366L probably damaging Het
Zfp981 A T 4: 146,621,357 (GRCm39) H94L possibly damaging 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
R1015:Map3k14 UTSW 11 103,116,126 (GRCm39) missense probably damaging 1.00
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
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'- GCTTCTGACTGTCTCCATGG -3'
(R):5'- GATGAGTCTCCACTAGGCAAC -3'

Sequencing Primer
(F):5'- ACTGTCTCCATGGGCCAGTTG -3'
(R):5'- GAGTCTCCACTAGGCAACCTCTATG -3'
Posted On 2016-06-21