Incidental Mutation 'R5544:Map4k2'
ID |
436170 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map4k2
|
Ensembl Gene |
ENSMUSG00000024948 |
Gene Name |
mitogen-activated protein kinase kinase kinase kinase 2 |
Synonyms |
BL44, Rab8ip |
MMRRC Submission |
043102-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
R5544 (G1)
|
Quality Score |
218 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
6391165-6405645 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to C
at 6395944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025897
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025897]
[ENSMUST00000124556]
[ENSMUST00000142496]
[ENSMUST00000130382]
[ENSMUST00000152349]
|
AlphaFold |
Q61161 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025897
|
SMART Domains |
Protein: ENSMUSP00000025897 Gene: ENSMUSG00000024948
Domain | Start | End | E-Value | Type |
S_TKc
|
16 |
273 |
2.41e-90 |
SMART |
low complexity region
|
358 |
369 |
N/A |
INTRINSIC |
low complexity region
|
425 |
444 |
N/A |
INTRINSIC |
CNH
|
488 |
801 |
1.31e-128 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124333
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124556
|
SMART Domains |
Protein: ENSMUSP00000121375 Gene: ENSMUSG00000024948
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
16 |
56 |
4e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126841
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127809
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128170
|
SMART Domains |
Protein: ENSMUSP00000121856 Gene: ENSMUSG00000024948
Domain | Start | End | E-Value | Type |
Pfam:CNH
|
2 |
142 |
3.4e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142496
|
SMART Domains |
Protein: ENSMUSP00000114243 Gene: ENSMUSG00000024948
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
16 |
56 |
4e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133696
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152912
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155569
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137095
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140098
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130382
|
SMART Domains |
Protein: ENSMUSP00000120123 Gene: ENSMUSG00000024948
Domain | Start | End | E-Value | Type |
S_TKc
|
16 |
233 |
3.4e-14 |
SMART |
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152349
|
SMART Domains |
Protein: ENSMUSP00000115741 Gene: ENSMUSG00000024948
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
16 |
57 |
3.7e-7 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] PHENOTYPE: Mice homozygous for a null allele exhibit decreased susceptibility to endotoxin shock. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts8 |
G |
A |
9: 30,863,999 (GRCm39) |
A372T |
probably damaging |
Het |
Ap4m1 |
A |
G |
5: 138,176,632 (GRCm39) |
T411A |
probably benign |
Het |
Arid3b |
T |
A |
9: 57,705,380 (GRCm39) |
K274* |
probably null |
Het |
Bcan |
A |
G |
3: 87,900,360 (GRCm39) |
|
probably null |
Het |
Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
C9 |
T |
A |
15: 6,526,508 (GRCm39) |
V514D |
probably damaging |
Het |
Cdk2 |
A |
C |
10: 128,535,008 (GRCm39) |
D336E |
probably benign |
Het |
Corin |
A |
T |
5: 72,462,357 (GRCm39) |
Y825* |
probably null |
Het |
Cyp17a1 |
A |
G |
19: 46,661,093 (GRCm39) |
Y64H |
probably damaging |
Het |
Dock4 |
T |
G |
12: 40,884,701 (GRCm39) |
I1735S |
possibly damaging |
Het |
Dock7 |
T |
C |
4: 98,855,494 (GRCm39) |
H1486R |
probably damaging |
Het |
Fam171b |
C |
A |
2: 83,685,871 (GRCm39) |
A185D |
possibly damaging |
Het |
Fbxl13 |
A |
G |
5: 21,729,489 (GRCm39) |
I441T |
probably damaging |
Het |
Gm7347 |
T |
A |
5: 26,260,016 (GRCm39) |
D178V |
possibly damaging |
Het |
Greb1 |
C |
A |
12: 16,723,797 (GRCm39) |
C1884F |
probably damaging |
Het |
Kdr |
G |
A |
5: 76,121,403 (GRCm39) |
R536* |
probably null |
Het |
Lamc2 |
T |
C |
1: 152,999,799 (GRCm39) |
T1187A |
possibly damaging |
Het |
Mal |
T |
A |
2: 127,476,937 (GRCm39) |
H142L |
probably damaging |
Het |
Morn4 |
T |
C |
19: 42,064,686 (GRCm39) |
T101A |
possibly damaging |
Het |
Neto2 |
A |
G |
8: 86,374,506 (GRCm39) |
V241A |
possibly damaging |
Het |
Nprl2 |
T |
C |
9: 107,421,808 (GRCm39) |
V232A |
probably benign |
Het |
Pcdhb13 |
T |
C |
18: 37,576,573 (GRCm39) |
V317A |
possibly damaging |
Het |
Pcdhb17 |
T |
A |
18: 37,620,474 (GRCm39) |
C755S |
possibly damaging |
Het |
Pgc |
A |
G |
17: 48,043,429 (GRCm39) |
D259G |
probably benign |
Het |
Ptprh |
C |
A |
7: 4,583,909 (GRCm39) |
E228* |
probably null |
Het |
R3hdml |
A |
G |
2: 163,340,342 (GRCm39) |
T170A |
probably damaging |
Het |
Retreg2 |
T |
G |
1: 75,121,333 (GRCm39) |
*174G |
probably null |
Het |
Rps6ka1 |
A |
G |
4: 133,599,326 (GRCm39) |
S34P |
probably benign |
Het |
Rptn |
A |
G |
3: 93,305,780 (GRCm39) |
T1038A |
possibly damaging |
Het |
Sel1l3 |
A |
T |
5: 53,357,644 (GRCm39) |
V116D |
probably damaging |
Het |
Sidt2 |
A |
T |
9: 45,855,753 (GRCm39) |
Y509N |
probably damaging |
Het |
Slc16a11 |
T |
A |
11: 70,105,826 (GRCm39) |
|
probably null |
Het |
Thsd7a |
G |
T |
6: 12,379,470 (GRCm39) |
Q985K |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,556,882 (GRCm39) |
N30041S |
probably benign |
Het |
Vmn1r231 |
A |
G |
17: 21,110,840 (GRCm39) |
I25T |
probably damaging |
Het |
Wdr81 |
T |
C |
11: 75,332,623 (GRCm39) |
D1926G |
probably damaging |
Het |
|
Other mutations in Map4k2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01607:Map4k2
|
APN |
19 |
6,395,623 (GRCm39) |
splice site |
probably null |
|
IGL02041:Map4k2
|
APN |
19 |
6,401,348 (GRCm39) |
missense |
probably benign |
0.45 |
IGL03372:Map4k2
|
APN |
19 |
6,392,279 (GRCm39) |
unclassified |
probably benign |
|
IGL03380:Map4k2
|
APN |
19 |
6,394,620 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0968:Map4k2
|
UTSW |
19 |
6,395,487 (GRCm39) |
missense |
probably damaging |
0.98 |
R1466:Map4k2
|
UTSW |
19 |
6,391,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:Map4k2
|
UTSW |
19 |
6,391,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R1612:Map4k2
|
UTSW |
19 |
6,393,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R2069:Map4k2
|
UTSW |
19 |
6,392,768 (GRCm39) |
unclassified |
probably benign |
|
R2370:Map4k2
|
UTSW |
19 |
6,391,958 (GRCm39) |
nonsense |
probably null |
|
R3080:Map4k2
|
UTSW |
19 |
6,403,218 (GRCm39) |
missense |
probably damaging |
0.99 |
R3825:Map4k2
|
UTSW |
19 |
6,394,081 (GRCm39) |
missense |
probably benign |
0.29 |
R3896:Map4k2
|
UTSW |
19 |
6,391,958 (GRCm39) |
nonsense |
probably null |
|
R4088:Map4k2
|
UTSW |
19 |
6,403,186 (GRCm39) |
missense |
probably damaging |
0.99 |
R4817:Map4k2
|
UTSW |
19 |
6,394,459 (GRCm39) |
missense |
probably damaging |
0.97 |
R4888:Map4k2
|
UTSW |
19 |
6,394,033 (GRCm39) |
missense |
probably benign |
0.07 |
R5226:Map4k2
|
UTSW |
19 |
6,396,534 (GRCm39) |
unclassified |
probably benign |
|
R5687:Map4k2
|
UTSW |
19 |
6,395,672 (GRCm39) |
unclassified |
probably benign |
|
R5688:Map4k2
|
UTSW |
19 |
6,396,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R5726:Map4k2
|
UTSW |
19 |
6,401,362 (GRCm39) |
missense |
probably damaging |
0.99 |
R5750:Map4k2
|
UTSW |
19 |
6,401,367 (GRCm39) |
missense |
probably benign |
0.15 |
R5908:Map4k2
|
UTSW |
19 |
6,401,346 (GRCm39) |
splice site |
probably benign |
|
R6402:Map4k2
|
UTSW |
19 |
6,394,111 (GRCm39) |
critical splice donor site |
probably null |
|
R6843:Map4k2
|
UTSW |
19 |
6,403,477 (GRCm39) |
missense |
probably damaging |
0.98 |
R6942:Map4k2
|
UTSW |
19 |
6,396,739 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7227:Map4k2
|
UTSW |
19 |
6,396,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R7573:Map4k2
|
UTSW |
19 |
6,394,094 (GRCm39) |
missense |
probably benign |
|
R7632:Map4k2
|
UTSW |
19 |
6,394,084 (GRCm39) |
missense |
probably benign |
|
R7893:Map4k2
|
UTSW |
19 |
6,403,541 (GRCm39) |
missense |
probably damaging |
0.98 |
R8257:Map4k2
|
UTSW |
19 |
6,396,030 (GRCm39) |
missense |
probably benign |
0.00 |
R8331:Map4k2
|
UTSW |
19 |
6,402,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R8343:Map4k2
|
UTSW |
19 |
6,396,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R8795:Map4k2
|
UTSW |
19 |
6,401,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R9351:Map4k2
|
UTSW |
19 |
6,401,223 (GRCm39) |
missense |
probably benign |
0.01 |
R9414:Map4k2
|
UTSW |
19 |
6,394,515 (GRCm39) |
missense |
probably benign |
0.00 |
R9442:Map4k2
|
UTSW |
19 |
6,392,814 (GRCm39) |
missense |
probably damaging |
1.00 |
X0010:Map4k2
|
UTSW |
19 |
6,403,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCCTCTTGACAGGAGCTGG -3'
(R):5'- ACCACTTACGTGCACCTTGG -3'
Sequencing Primer
(F):5'- TGGACTCCCCGGATGATG -3'
(R):5'- CATGGCAGGATGATCGCTG -3'
|
Posted On |
2016-10-24 |