Incidental Mutation 'R5480:Map3k14'
| ID |
434276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k14
|
| Ensembl Gene |
ENSMUSG00000020941 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 14 |
| Synonyms |
Nik |
| MMRRC Submission |
043041-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.721)
|
| Stock # |
R5480 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
103110590-103158227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103130330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 196
(F196L)
|
| 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 benign
Transcript: ENSMUST00000021324
AA Change: F196L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000021324
Gene: ENSMUSG00000020941
AA Change: F196L
| 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
|
| Meta Mutation Damage Score |
0.0589 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.7%
|
| Validation Efficiency |
97% (56/58) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh7 |
A |
G |
17: 57,306,131 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,482,979 (GRCm39) |
L343S |
probably damaging |
Het |
| Btbd10 |
T |
A |
7: 112,915,914 (GRCm39) |
R392W |
probably damaging |
Het |
| Camkv |
A |
G |
9: 107,824,074 (GRCm39) |
D216G |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,836,460 (GRCm39) |
D525G |
probably damaging |
Het |
| Dqx1 |
A |
T |
6: 83,041,784 (GRCm39) |
D542V |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,662,441 (GRCm39) |
T539A |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,267,939 (GRCm39) |
E278G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,200,912 (GRCm39) |
S721P |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,857,424 (GRCm39) |
C2257* |
probably null |
Het |
| Frem2 |
A |
T |
3: 53,563,928 (GRCm39) |
L193* |
probably null |
Het |
| Gfy |
C |
A |
7: 44,826,657 (GRCm39) |
V394F |
probably benign |
Het |
| Gipr |
A |
G |
7: 18,894,579 (GRCm39) |
L241P |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,552,100 (GRCm39) |
S445P |
probably damaging |
Het |
| Ift140 |
G |
T |
17: 25,239,550 (GRCm39) |
W69L |
probably damaging |
Het |
| Kat6a |
T |
A |
8: 23,428,323 (GRCm39) |
M1226K |
possibly damaging |
Het |
| Klk12 |
T |
G |
7: 43,420,482 (GRCm39) |
H140Q |
probably benign |
Het |
| Mblac2 |
T |
A |
13: 81,898,395 (GRCm39) |
V257E |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,138,935 (GRCm39) |
E188G |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,027,724 (GRCm39) |
N250S |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,648,811 (GRCm39) |
D209G |
probably damaging |
Het |
| Pigs |
T |
G |
11: 78,219,901 (GRCm39) |
I92S |
possibly damaging |
Het |
| Pigz |
G |
T |
16: 31,763,439 (GRCm39) |
G166C |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,757,388 (GRCm39) |
R1550L |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,180,595 (GRCm39) |
V40A |
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,301,616 (GRCm39) |
M1470K |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,833,652 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,098,311 (GRCm39) |
T1272A |
possibly damaging |
Het |
| Rfwd3 |
A |
T |
8: 112,000,464 (GRCm39) |
D720E |
probably damaging |
Het |
| Rgs12 |
C |
G |
5: 35,123,455 (GRCm39) |
Q413E |
probably benign |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,563 (GRCm39) |
V376D |
possibly damaging |
Het |
| Rrp8 |
C |
T |
7: 105,383,336 (GRCm39) |
S310N |
probably damaging |
Het |
| S100a3 |
C |
T |
3: 90,509,591 (GRCm39) |
L79F |
probably damaging |
Het |
| Setbp1 |
C |
A |
18: 78,901,278 (GRCm39) |
M796I |
probably damaging |
Het |
| Sipa1 |
A |
G |
19: 5,709,658 (GRCm39) |
L254P |
possibly damaging |
Het |
| Slc4a7 |
C |
G |
14: 14,782,138 (GRCm38) |
H964Q |
probably damaging |
Het |
| Strc |
G |
T |
2: 121,195,300 (GRCm39) |
P1661Q |
probably benign |
Het |
| Taf5l |
A |
T |
8: 124,736,559 (GRCm39) |
V4E |
possibly damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,069,123 (GRCm39) |
E82G |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,739,682 (GRCm39) |
S858P |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,310,557 (GRCm39) |
V157A |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,208,463 (GRCm39) |
T419A |
probably benign |
Het |
| Vmn2r60 |
G |
T |
7: 41,785,154 (GRCm39) |
W122L |
probably damaging |
Het |
| Vwa3b |
C |
A |
1: 37,139,787 (GRCm39) |
Y369* |
probably null |
Het |
| Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
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 |
|
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 |
|
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'- ATATAGGGTTTCCAGGGCTCC -3'
(R):5'- AAGAGGTCGAAGTCACTGGC -3'
Sequencing Primer
(F):5'- AAGGATGGGGCATTCCGCTG -3'
(R):5'- TCGAAGTCACTGGCCCAGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation