Incidental Mutation 'R2880:Map3k14'
ID |
260290 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map3k14
|
Ensembl Gene |
ENSMUSG00000020941 |
Gene Name |
mitogen-activated protein kinase kinase kinase 14 |
Synonyms |
Nik |
MMRRC Submission |
040468-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.721)
|
Stock # |
R2880 (G1)
|
Quality Score |
221 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
103110590-103158227 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 103111858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 941
(R941L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021324]
[ENSMUST00000103076]
|
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: R941L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021324 Gene: ENSMUSG00000020941 AA Change: R941L
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 |
probably benign
Transcript: ENSMUST00000103076
|
SMART Domains |
Protein: ENSMUSP00000099365 Gene: ENSMUSG00000044787
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
48 |
N/A |
INTRINSIC |
Pfam:VAD1-2
|
106 |
332 |
3e-87 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146163
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
C |
T |
10: 88,948,661 (GRCm39) |
E150K |
probably damaging |
Het |
Blnk |
T |
C |
19: 40,950,899 (GRCm39) |
Y84C |
probably damaging |
Het |
Brinp3 |
G |
A |
1: 146,777,740 (GRCm39) |
R729H |
probably damaging |
Het |
Bsn |
C |
T |
9: 107,990,266 (GRCm39) |
A1829T |
possibly damaging |
Het |
Cd300c |
A |
T |
11: 114,850,616 (GRCm39) |
N62K |
probably benign |
Het |
Chd3 |
T |
C |
11: 69,242,946 (GRCm39) |
D1425G |
probably damaging |
Het |
Ewsr1 |
C |
A |
11: 5,028,523 (GRCm39) |
|
probably benign |
Het |
Gm4076 |
G |
A |
13: 85,275,357 (GRCm39) |
|
noncoding transcript |
Het |
Gm9637 |
A |
G |
14: 19,401,978 (GRCm38) |
|
noncoding transcript |
Het |
Greb1l |
A |
T |
18: 10,547,288 (GRCm39) |
N1502I |
possibly damaging |
Het |
H13 |
A |
G |
2: 152,537,481 (GRCm39) |
M309V |
probably damaging |
Het |
Lmf2 |
A |
G |
15: 89,235,856 (GRCm39) |
S683P |
possibly damaging |
Het |
Lrit1 |
T |
A |
14: 36,779,394 (GRCm39) |
L109Q |
probably damaging |
Het |
Maml2 |
A |
T |
9: 13,531,893 (GRCm39) |
|
probably null |
Het |
Megf6 |
A |
G |
4: 154,337,006 (GRCm39) |
K262E |
probably damaging |
Het |
Mtnr1b |
T |
G |
9: 15,774,102 (GRCm39) |
Y319S |
probably damaging |
Het |
Myh8 |
A |
G |
11: 67,188,090 (GRCm39) |
K954R |
probably damaging |
Het |
Myof |
T |
C |
19: 37,911,473 (GRCm39) |
D1486G |
probably benign |
Het |
Nbea |
A |
G |
3: 55,554,779 (GRCm39) |
V2623A |
probably benign |
Het |
Pak1 |
T |
A |
7: 97,554,018 (GRCm39) |
Y463N |
probably damaging |
Het |
Pex5l |
T |
A |
3: 33,047,152 (GRCm39) |
|
probably null |
Het |
Rasa4 |
T |
C |
5: 136,120,625 (GRCm39) |
V87A |
probably damaging |
Het |
Rnf112 |
G |
A |
11: 61,341,293 (GRCm39) |
H431Y |
possibly damaging |
Het |
Slc25a30 |
A |
G |
14: 76,007,651 (GRCm39) |
V118A |
probably benign |
Het |
Slc4a7 |
T |
A |
14: 14,773,277 (GRCm38) |
I872K |
probably damaging |
Het |
Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
Sycp1 |
T |
C |
3: 102,726,214 (GRCm39) |
E970G |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,064,935 (GRCm39) |
L1455* |
probably null |
Het |
Tgfb2 |
T |
A |
1: 186,436,752 (GRCm39) |
T74S |
probably damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,613,094 (GRCm39) |
C42S |
probably damaging |
Het |
Zbtb12 |
T |
A |
17: 35,114,455 (GRCm39) |
I80N |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGGGAGGTGCTTTACTC -3'
(R):5'- AAGCTCCCTTCTCGATGCATG -3'
Sequencing Primer
(F):5'- GGAGGTGCTTTACTCTGTTCCC -3'
(R):5'- TCACCCCAGCCGGTTTG -3'
|
Posted On |
2015-01-23 |