Incidental Mutation 'IGL00091:Map3k14'
ID |
306514 |
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)
|
Stock # |
IGL00091
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
103110590-103158227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 103118405 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 594
(G594C)
|
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: G594C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021324 Gene: ENSMUSG00000020941 AA Change: G594C
Domain | Start | End | E-Value | Type |
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 |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas2 |
A |
T |
7: 132,485,157 (GRCm39) |
Y400F |
probably benign |
Het |
Adamts8 |
C |
A |
9: 30,864,796 (GRCm39) |
T429K |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,726,220 (GRCm39) |
D602N |
probably damaging |
Het |
Ano7 |
A |
T |
1: 93,329,888 (GRCm39) |
H775L |
probably benign |
Het |
Apoo-ps |
A |
T |
13: 107,551,134 (GRCm39) |
|
noncoding transcript |
Het |
Arid2 |
T |
C |
15: 96,270,183 (GRCm39) |
V1432A |
probably benign |
Het |
Atoh1 |
T |
C |
6: 64,706,568 (GRCm39) |
S88P |
possibly damaging |
Het |
C130050O18Rik |
A |
G |
5: 139,400,601 (GRCm39) |
E218G |
probably damaging |
Het |
Cacna2d1 |
T |
A |
5: 16,417,942 (GRCm39) |
F155L |
probably damaging |
Het |
Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
Cyp1a2 |
G |
T |
9: 57,589,352 (GRCm39) |
S154* |
probably null |
Het |
Cyp3a25 |
A |
T |
5: 145,938,273 (GRCm39) |
Y68* |
probably null |
Het |
Dmbt1 |
C |
A |
7: 130,681,270 (GRCm39) |
|
probably benign |
Het |
Dnajc22 |
T |
A |
15: 98,999,059 (GRCm39) |
F81L |
possibly damaging |
Het |
Eml5 |
G |
A |
12: 98,839,468 (GRCm39) |
|
probably benign |
Het |
Fpgs |
A |
T |
2: 32,576,559 (GRCm39) |
|
probably benign |
Het |
Gab2 |
T |
C |
7: 96,951,650 (GRCm39) |
S537P |
possibly damaging |
Het |
Gmds |
G |
A |
13: 32,418,373 (GRCm39) |
S37L |
probably damaging |
Het |
Ipo13 |
T |
C |
4: 117,760,602 (GRCm39) |
E626G |
probably benign |
Het |
Kcng1 |
T |
C |
2: 168,110,684 (GRCm39) |
H160R |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,713,349 (GRCm39) |
T1608A |
probably benign |
Het |
Lama4 |
A |
C |
10: 38,948,801 (GRCm39) |
S855R |
probably damaging |
Het |
Ltbp1 |
C |
T |
17: 75,532,333 (GRCm39) |
H454Y |
probably damaging |
Het |
Mcph1 |
A |
G |
8: 18,682,636 (GRCm39) |
N591S |
possibly damaging |
Het |
Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
Mptx2 |
T |
G |
1: 173,102,455 (GRCm39) |
N78T |
probably damaging |
Het |
Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
Nup50 |
T |
A |
15: 84,819,605 (GRCm39) |
F293Y |
probably benign |
Het |
Ogn |
A |
G |
13: 49,774,514 (GRCm39) |
Y219C |
probably damaging |
Het |
Pdia3 |
T |
C |
2: 121,244,659 (GRCm39) |
L47P |
probably damaging |
Het |
Piwil4 |
A |
T |
9: 14,614,393 (GRCm39) |
D786E |
probably damaging |
Het |
Pspc1 |
A |
G |
14: 57,009,168 (GRCm39) |
L222P |
probably damaging |
Het |
Ptchd3 |
T |
A |
11: 121,721,972 (GRCm39) |
Y282N |
probably damaging |
Het |
Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
Serpini2 |
T |
C |
3: 75,156,549 (GRCm39) |
Y327C |
probably damaging |
Het |
Spire2 |
A |
G |
8: 124,080,798 (GRCm39) |
D14G |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,705,070 (GRCm39) |
|
probably null |
Het |
Timeless |
T |
C |
10: 128,077,577 (GRCm39) |
L219P |
probably damaging |
Het |
Tmem63a |
C |
T |
1: 180,790,653 (GRCm39) |
T437M |
probably damaging |
Het |
Tslp |
A |
G |
18: 32,948,448 (GRCm39) |
|
probably benign |
Het |
Ttbk2 |
C |
A |
2: 120,579,314 (GRCm39) |
G534* |
probably null |
Het |
Uggt1 |
T |
C |
1: 36,218,633 (GRCm39) |
|
probably benign |
Het |
Vmn2r118 |
T |
C |
17: 55,899,708 (GRCm39) |
E732G |
probably damaging |
Het |
Zfhx2 |
G |
A |
14: 55,304,022 (GRCm39) |
P1321S |
possibly damaging |
Het |
Zfp58 |
A |
G |
13: 67,639,114 (GRCm39) |
V459A |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,487,451 (GRCm39) |
S709P |
possibly damaging |
Het |
|
Other mutations in Map3k14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2015-04-16 |