Incidental Mutation 'R6843:Map4k2'
| ID |
534648 |
| 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 |
044949-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
R6843 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6391165-6405645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6403477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 796
(I796F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025897]
[ENSMUST00000124556]
[ENSMUST00000142496]
|
| AlphaFold |
Q61161 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025897
AA Change: I796F
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: I796F
| 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 |
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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,615,360 (GRCm39) |
Q78L |
probably benign |
Het |
| Akr1c21 |
A |
G |
13: 4,625,213 (GRCm39) |
H48R |
probably damaging |
Het |
| Anks1b |
T |
A |
10: 90,784,460 (GRCm39) |
S1143T |
probably damaging |
Het |
| Apip |
T |
G |
2: 102,922,834 (GRCm39) |
F217L |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,892,695 (GRCm39) |
Y1525N |
probably damaging |
Het |
| Bcl2l13 |
G |
A |
6: 120,825,578 (GRCm39) |
|
probably null |
Het |
| Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
| Clk4 |
T |
G |
11: 51,167,076 (GRCm39) |
|
probably null |
Het |
| Cnr2 |
C |
T |
4: 135,644,900 (GRCm39) |
P326L |
probably benign |
Het |
| Cryaa |
A |
G |
17: 31,897,147 (GRCm39) |
D58G |
possibly damaging |
Het |
| Crybg3 |
G |
A |
16: 59,380,159 (GRCm39) |
T365M |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,357,587 (GRCm39) |
N1683D |
probably benign |
Het |
| Dbx2 |
T |
G |
15: 95,552,340 (GRCm39) |
I102L |
possibly damaging |
Het |
| Dll4 |
A |
T |
2: 119,156,475 (GRCm39) |
|
probably benign |
Het |
| Epb42 |
T |
A |
2: 120,858,166 (GRCm39) |
Y264F |
possibly damaging |
Het |
| Exoc3l |
T |
A |
8: 106,016,729 (GRCm39) |
H695L |
probably benign |
Het |
| Fhip1a |
G |
A |
3: 85,580,352 (GRCm39) |
P618S |
probably damaging |
Het |
| Ghsr |
A |
C |
3: 27,426,676 (GRCm39) |
D244A |
probably benign |
Het |
| Gm9195 |
A |
G |
14: 72,678,651 (GRCm39) |
Y2268H |
possibly damaging |
Het |
| Hdac1 |
A |
G |
4: 129,436,383 (GRCm39) |
Y14H |
probably damaging |
Het |
| Hdac3 |
A |
T |
18: 38,075,007 (GRCm39) |
Y282N |
probably benign |
Het |
| Heg1 |
T |
A |
16: 33,539,896 (GRCm39) |
N285K |
probably benign |
Het |
| Igkv4-90 |
A |
G |
6: 68,784,670 (GRCm39) |
F8S |
possibly damaging |
Het |
| Map2k1 |
A |
T |
9: 64,094,973 (GRCm39) |
D336E |
probably damaging |
Het |
| Mapk13 |
T |
A |
17: 28,994,427 (GRCm39) |
|
probably null |
Het |
| Mprip |
A |
G |
11: 59,650,554 (GRCm39) |
I1419M |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,368,651 (GRCm39) |
E255G |
probably damaging |
Het |
| Oprl1 |
A |
G |
2: 181,357,547 (GRCm39) |
E11G |
probably damaging |
Het |
| Or1i2 |
T |
C |
10: 78,447,891 (GRCm39) |
N195D |
probably damaging |
Het |
| Or4f14 |
T |
C |
2: 111,743,260 (GRCm39) |
N5S |
probably damaging |
Het |
| Or52b3 |
A |
G |
7: 102,203,928 (GRCm39) |
I146V |
probably benign |
Het |
| Or5b99 |
G |
T |
19: 12,976,362 (GRCm39) |
C4F |
probably benign |
Het |
| Or6c209 |
A |
G |
10: 129,483,048 (GRCm39) |
D17G |
possibly damaging |
Het |
| Palmd |
T |
A |
3: 116,717,864 (GRCm39) |
D211V |
probably damaging |
Het |
| Pcdhga11 |
A |
G |
18: 37,889,378 (GRCm39) |
N129D |
probably damaging |
Het |
| Plekha6 |
T |
A |
1: 133,202,616 (GRCm39) |
M359K |
probably damaging |
Het |
| Plekha7 |
G |
T |
7: 115,742,555 (GRCm39) |
H756Q |
probably benign |
Het |
| Ppfibp2 |
C |
T |
7: 107,326,938 (GRCm39) |
P441S |
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,467,978 (GRCm39) |
I1373T |
possibly damaging |
Het |
| Serpinb9g |
G |
T |
13: 33,676,900 (GRCm39) |
L227F |
probably damaging |
Het |
| Snapc4 |
C |
A |
2: 26,263,611 (GRCm39) |
A11S |
probably benign |
Het |
| Sqor |
T |
C |
2: 122,626,900 (GRCm39) |
V7A |
probably benign |
Het |
| Sqor |
G |
T |
2: 122,651,215 (GRCm39) |
G437V |
probably damaging |
Het |
| Srrm3 |
T |
C |
5: 135,881,135 (GRCm39) |
V145A |
probably benign |
Het |
| Stx1b |
G |
A |
7: 127,414,151 (GRCm39) |
Q72* |
probably null |
Het |
| Syt7 |
A |
G |
19: 10,399,135 (GRCm39) |
D77G |
probably damaging |
Het |
| Tvp23a |
G |
A |
16: 10,264,884 (GRCm39) |
A9V |
probably benign |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,692 (GRCm39) |
I114F |
probably damaging |
Het |
| Vmn2r80 |
C |
A |
10: 79,005,502 (GRCm39) |
Q380K |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,230,125 (GRCm39) |
E269K |
probably damaging |
Het |
| Zfp932 |
T |
C |
5: 110,156,581 (GRCm39) |
M92T |
probably benign |
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 |
|
|
R5544:Map4k2
|
UTSW |
19 |
6,395,944 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
|
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'- TTGTCTTCCAGGTGACGCAG -3'
(R):5'- CCTCTGGTCCAGTTATTGCTGAG -3'
Sequencing Primer
(F):5'- CTTCCAGGTGACGCAGGAGATAAC -3'
(R):5'- CCAGTTATTGCTGAGGTGGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation