Incidental Mutation 'IGL00590:Map3k14'
ID 4485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k14
Ensembl Gene ENSMUSG00000020941
Gene Name mitogen-activated protein kinase kinase kinase 14
Synonyms Nik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.721) question?
Stock # IGL00590
Quality Score
Status
Chromosome 11
Chromosomal Location 103110590-103158227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103128380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 414 (G414S)
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: G414S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021324
Gene: ENSMUSG00000020941
AA Change: G414S

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
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 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T G 7: 120,023,038 (GRCm39) F58C probably damaging Het
Adgrf5 G T 17: 43,764,038 (GRCm39) G1320V probably damaging Het
Akap13 A G 7: 75,260,417 (GRCm39) K211E probably benign Het
Akap8l T C 17: 32,552,071 (GRCm39) D402G possibly damaging Het
Akna T C 4: 63,290,115 (GRCm39) I1198V probably benign Het
Apaf1 T A 10: 90,859,650 (GRCm39) I832F probably damaging Het
Cbl A C 9: 44,112,495 (GRCm39) L67V probably damaging Het
Chl1 T C 6: 103,670,022 (GRCm39) Y471H probably benign Het
Cystm1 T A 18: 36,499,728 (GRCm39) Y48N unknown Het
Dennd5b T C 6: 148,969,806 (GRCm39) T216A probably benign Het
Dpep2 A T 8: 106,715,453 (GRCm39) M356K probably damaging Het
Dtymk A G 1: 93,722,446 (GRCm39) probably null Het
Fam91a1 A G 15: 58,287,565 (GRCm39) D4G possibly damaging Het
Fbxl20 A G 11: 97,983,955 (GRCm39) L306P probably damaging Het
Fchsd1 C T 18: 38,098,946 (GRCm39) probably benign Het
Fndc1 G A 17: 7,983,933 (GRCm39) T1331I unknown Het
Gpatch8 T C 11: 102,371,375 (GRCm39) D721G unknown Het
Gsg1 A T 6: 135,221,348 (GRCm39) I17N possibly damaging Het
Heyl A G 4: 123,140,423 (GRCm39) *327W probably null Het
Kif13b G T 14: 65,016,911 (GRCm39) R1359L probably damaging Het
Meis2 C T 2: 115,699,274 (GRCm39) A330T probably damaging Het
Mrpl9 T C 3: 94,351,003 (GRCm39) L61P probably damaging Het
Mrps6 A G 16: 91,896,548 (GRCm39) N38D probably benign Het
Muc4 C T 16: 32,575,465 (GRCm39) T1407I probably benign Het
Nup107 A G 10: 117,599,708 (GRCm39) Y604H probably damaging Het
Pgm2l1 T C 7: 99,904,826 (GRCm39) probably null Het
Pisd T C 5: 32,895,756 (GRCm39) I441V probably benign Het
Rb1cc1 T C 1: 6,308,520 (GRCm39) F52S probably damaging Het
Rnft1 T A 11: 86,386,740 (GRCm39) W383R probably damaging Het
Tas2r104 A T 6: 131,662,530 (GRCm39) W60R probably damaging Het
Tlr11 A G 14: 50,598,373 (GRCm39) T120A probably benign Het
Tmem150b T G 7: 4,726,896 (GRCm39) I71L probably benign Het
Zfp296 A G 7: 19,311,760 (GRCm39) D89G possibly damaging Het
Other mutations in Map3k14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Map3k14 APN 11 103,118,405 (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
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
Posted On 2012-04-20