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)
|
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
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |