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 |
Incidental Mutation