Incidental Mutation 'R0020:Map3k14'
| ID |
201376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k14
|
| Ensembl Gene |
ENSMUSG00000020941 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 14 |
| Synonyms |
Nik |
| MMRRC Submission |
038315-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.721)
|
| Stock # |
R0020 (G1)
|
| Quality Score |
80 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
103110590-103158227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103118500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 562
(E562G)
|
| 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: E562G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021324
Gene: ENSMUSG00000020941
AA Change: E562G
| 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 |
|
| Meta Mutation Damage Score |
0.4325 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.4%
|
| Validation Efficiency |
99% (67/68) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ado |
T |
C |
10: 67,383,927 (GRCm39) |
D226G |
probably benign |
Het |
| Agfg2 |
C |
T |
5: 137,652,064 (GRCm39) |
V432M |
probably benign |
Het |
| Atf2 |
T |
C |
2: 73,676,628 (GRCm39) |
D122G |
possibly damaging |
Het |
| Brd10 |
A |
T |
19: 29,693,597 (GRCm39) |
D2032E |
probably damaging |
Het |
| Cd2bp2 |
G |
A |
7: 126,792,996 (GRCm39) |
T342M |
probably damaging |
Het |
| Cip2a |
A |
T |
16: 48,821,975 (GRCm39) |
H201L |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,739,272 (GRCm39) |
I319F |
probably damaging |
Het |
| Cst11 |
T |
A |
2: 148,613,253 (GRCm39) |
Y24F |
probably damaging |
Het |
| Cstb |
T |
A |
10: 78,263,170 (GRCm39) |
V65E |
probably benign |
Het |
| Cyp2j11 |
G |
A |
4: 96,195,641 (GRCm39) |
H352Y |
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,038,475 (GRCm39) |
|
probably benign |
Het |
| Dbh |
A |
G |
2: 27,060,584 (GRCm39) |
|
probably benign |
Het |
| Dhdh |
T |
C |
7: 45,137,528 (GRCm39) |
K53R |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,261,371 (GRCm39) |
Y174C |
probably damaging |
Het |
| Ezr |
G |
T |
17: 7,010,126 (GRCm39) |
Q308K |
probably damaging |
Het |
| F3 |
A |
T |
3: 121,525,265 (GRCm39) |
N169Y |
probably damaging |
Het |
| Fbn2 |
G |
T |
18: 58,238,236 (GRCm39) |
T587K |
probably damaging |
Het |
| Fhl5 |
A |
T |
4: 25,200,054 (GRCm39) |
V260E |
probably benign |
Het |
| Glyr1 |
A |
G |
16: 4,854,913 (GRCm39) |
I55T |
probably damaging |
Het |
| Gm12695 |
G |
C |
4: 96,657,972 (GRCm39) |
P66A |
probably damaging |
Het |
| Gon4l |
G |
T |
3: 88,766,244 (GRCm39) |
V428L |
probably damaging |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,241 (GRCm39) |
D92G |
probably null |
Het |
| Inhba |
A |
C |
13: 16,200,949 (GRCm39) |
K170N |
possibly damaging |
Het |
| Kng2 |
A |
G |
16: 22,816,046 (GRCm39) |
V317A |
probably benign |
Het |
| Larp1 |
T |
A |
11: 57,940,849 (GRCm39) |
D658E |
probably damaging |
Het |
| Megf10 |
G |
T |
18: 57,420,965 (GRCm39) |
V868F |
possibly damaging |
Het |
| Nap1l1 |
A |
C |
10: 111,326,884 (GRCm39) |
E148D |
probably benign |
Het |
| Nlrp4a |
A |
T |
7: 26,149,797 (GRCm39) |
H468L |
probably damaging |
Het |
| Nphs1 |
G |
T |
7: 30,162,633 (GRCm39) |
V357L |
probably benign |
Het |
| Or10aa3 |
T |
A |
1: 173,878,413 (GRCm39) |
V158E |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,719,687 (GRCm39) |
T1275A |
unknown |
Het |
| Pde4d |
T |
A |
13: 110,091,104 (GRCm39) |
C35S |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,825,765 (GRCm39) |
|
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,651,382 (GRCm39) |
E910G |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 55,960,429 (GRCm39) |
M634L |
probably benign |
Het |
| Ppp2r5c |
C |
T |
12: 110,541,257 (GRCm39) |
Q469* |
probably null |
Het |
| Ppp6r2 |
T |
A |
15: 89,143,342 (GRCm39) |
M163K |
probably damaging |
Het |
| Prss43 |
C |
A |
9: 110,657,580 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
C |
A |
1: 6,334,772 (GRCm39) |
N1444K |
possibly damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,350 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,430,095 (GRCm39) |
|
probably benign |
Het |
| Slamf9 |
T |
C |
1: 172,303,082 (GRCm39) |
S7P |
possibly damaging |
Het |
| Slc35b2 |
T |
A |
17: 45,877,782 (GRCm39) |
M303K |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,796,108 (GRCm38) |
F1116I |
probably benign |
Het |
| Slco1a8 |
A |
T |
6: 141,918,076 (GRCm39) |
V600E |
possibly damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,060,991 (GRCm39) |
|
probably benign |
Het |
| Tamalin |
T |
C |
15: 101,128,433 (GRCm39) |
V157A |
probably damaging |
Het |
| Tns3 |
A |
C |
11: 8,495,227 (GRCm39) |
|
probably null |
Het |
| Zfp282 |
T |
G |
6: 47,856,943 (GRCm39) |
W59G |
probably damaging |
Het |
| Zfp746 |
C |
A |
6: 48,041,641 (GRCm39) |
A362S |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCATTGCTGACCTTGAGACAAA -3'
(R):5'- TCCTGAATTTCATTATGGAGGGGCTTG -3'
Sequencing Primer
(F):5'- TTGAGACAAAGCGGGCCTC -3'
(R):5'- gtgggaggcagaagcag -3'
|
| Posted On |
2014-06-02 |
Incidental Mutation