Incidental Mutation 'IGL03065:Map3k14'
ID409644
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k14
Ensembl Gene ENSMUSG00000020941
Gene Namemitogen-activated protein kinase kinase kinase 14
SynonymsNik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.479) question?
Stock #IGL03065
Quality Score
Status
Chromosome11
Chromosomal Location103219762-103267472 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103225101 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 784 (E784G)
Ref Sequence ENSEMBL: ENSMUSP00000021324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021324]
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: E784G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021324
Gene: ENSMUSG00000020941
AA Change: E784G

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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A G 8: 83,938,514 M1322V possibly damaging Het
Adprh C T 16: 38,446,034 V249I probably benign Het
Als2 T C 1: 59,215,872 S109G probably benign Het
Bpifa1 T A 2: 154,147,642 N250K probably damaging Het
Capn9 A C 8: 124,605,559 Y423S probably damaging Het
Cd200r1 T G 16: 44,794,282 V308G probably benign Het
Cic T C 7: 25,285,821 probably benign Het
Col5a1 T A 2: 28,032,745 I275N possibly damaging Het
Col6a4 C A 9: 106,041,164 probably benign Het
Cpeb1 T C 7: 81,436,290 R35G probably benign Het
Cul1 A G 6: 47,495,081 Y52C probably damaging Het
Dctn1 T C 6: 83,192,493 F496L probably damaging Het
Dock11 G T X: 36,047,046 probably benign Het
Eaf2 C T 16: 36,828,122 R12H probably benign Het
Gcc1 T A 6: 28,418,402 Q644L possibly damaging Het
Gm44865 C T 7: 108,565,797 probably benign Het
Gm6614 C A 6: 141,992,502 L250F probably damaging Het
Golgb1 C T 16: 36,912,866 S866L probably benign Het
Gstp3 C T 19: 4,058,730 probably null Het
Heph T A X: 96,527,567 I669N probably benign Het
Il12rb1 A T 8: 70,820,558 Y635F possibly damaging Het
Ing3 G A 6: 21,971,222 A342T probably benign Het
Ipo8 T A 6: 148,784,707 I762F probably benign Het
Itpr3 G A 17: 27,091,933 R510Q probably damaging Het
Kif16b A G 2: 142,619,913 Y1273H probably damaging Het
Mpdz A T 4: 81,292,565 N1694K probably damaging Het
Myh13 T C 11: 67,344,853 F648S probably damaging Het
Myh4 A G 11: 67,259,156 H1847R probably benign Het
Ncoa7 T A 10: 30,647,997 D840V probably damaging Het
Nxpe2 T A 9: 48,319,692 N459I possibly damaging Het
Olfr1297 T C 2: 111,621,190 K295E probably damaging Het
Olfr1426 C A 19: 12,088,611 L60F possibly damaging Het
Olfr730 C A 14: 50,187,008 D71Y probably damaging Het
Ovgp1 T C 3: 105,986,366 F485S probably benign Het
Parp4 G T 14: 56,637,869 A1182S probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pla2g15 G A 8: 106,160,219 R114H probably benign Het
Plppr3 T A 10: 79,866,046 T321S probably benign Het
Rnf113a1 A G X: 37,192,095 D235G probably benign Het
Rsrp1 A G 4: 134,924,389 T155A possibly damaging Het
Simc1 G T 13: 54,537,212 C1089F probably damaging Het
Slco1a5 A G 6: 142,248,843 probably benign Het
Smyd5 A G 6: 85,442,164 D276G possibly damaging Het
Spata5 T C 3: 37,432,179 V350A possibly damaging Het
Tmem132c A G 5: 127,563,624 Y953C probably damaging Het
Trank1 T A 9: 111,390,293 S2033T possibly damaging Het
Trim69 A G 2: 122,178,634 T392A probably damaging Het
Tsks T C 7: 44,943,300 V6A probably damaging Het
Yjefn3 A G 8: 69,889,556 probably benign Het
Zfp263 T G 16: 3,746,480 D211E probably benign Het
Zfp994 A T 17: 22,202,680 F51L probably damaging Het
Znfx1 A T 2: 167,055,765 M413K probably benign Het
Other mutations in Map3k14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Map3k14 APN 11 103227579 missense probably damaging 1.00
IGL00590:Map3k14 APN 11 103237554 missense probably damaging 1.00
lucky UTSW 11 103249558 nonsense
R0020:Map3k14 UTSW 11 103227674 missense probably damaging 0.99
R0070:Map3k14 UTSW 11 103239554 critical splice acceptor site probably null
R0294:Map3k14 UTSW 11 103227137 missense possibly damaging 0.80
R0624:Map3k14 UTSW 11 103242291 missense possibly damaging 0.77
R0734:Map3k14 UTSW 11 103227000 missense probably benign 0.00
R1015:Map3k14 UTSW 11 103225300 missense probably damaging 1.00
R1170:Map3k14 UTSW 11 103238917 splice site probably benign
R1487:Map3k14 UTSW 11 103225337 missense possibly damaging 0.48
R2204:Map3k14 UTSW 11 103239454 missense possibly damaging 0.82
R2880:Map3k14 UTSW 11 103221032 missense probably damaging 1.00
R4429:Map3k14 UTSW 11 103227584 missense probably damaging 1.00
R4624:Map3k14 UTSW 11 103231101 missense probably damaging 1.00
R4967:Map3k14 UTSW 11 103239531 missense probably benign 0.00
R5098:Map3k14 UTSW 11 103224359 missense probably damaging 1.00
R5148:Map3k14 UTSW 11 103239332 missense probably benign
R5208:Map3k14 UTSW 11 103239146 missense probably damaging 0.98
R5480:Map3k14 UTSW 11 103239504 missense probably benign 0.03
R6697:Map3k14 UTSW 11 103227064 missense probably benign 0.19
R6932:Map3k14 UTSW 11 103242132 missense probably damaging 1.00
T0970:Map3k14 UTSW 11 103224298 nonsense probably null
X0023:Map3k14 UTSW 11 103239822 missense probably damaging 1.00
Posted On2016-08-02