Incidental Mutation 'R4088:Map4k2'
ID |
317491 |
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 |
040981-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.311)
|
Stock # |
R4088 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6391165-6405645 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 6403186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 763
(H763L)
|
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: H763L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025897 Gene: ENSMUSG00000024948 AA Change: H763L
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: ENSMUST00000113496
|
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 |
noncoding transcript
Transcript: ENSMUST00000129675
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133696
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142862
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137095
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155655
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140098
|
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 |
|
Meta Mutation Damage Score |
0.9410 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
96% (55/57) |
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 |
A430110L20Rik |
T |
C |
1: 181,055,274 (GRCm39) |
|
noncoding transcript |
Het |
Alox12b |
G |
T |
11: 69,049,211 (GRCm39) |
V87L |
probably benign |
Het |
Arsk |
T |
G |
13: 76,246,533 (GRCm39) |
N32T |
probably benign |
Het |
Baz1b |
T |
A |
5: 135,245,794 (GRCm39) |
N414K |
probably damaging |
Het |
Cacna1e |
A |
T |
1: 154,287,929 (GRCm39) |
|
probably null |
Het |
Cdc73 |
A |
G |
1: 143,484,252 (GRCm39) |
|
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,865,701 (GRCm39) |
D233G |
probably null |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
Cyp2b9 |
T |
C |
7: 25,872,881 (GRCm39) |
L8P |
probably damaging |
Het |
Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Dnajc6 |
T |
A |
4: 101,496,593 (GRCm39) |
V920E |
probably damaging |
Het |
Eef2kmt |
A |
T |
16: 5,070,899 (GRCm39) |
I50N |
probably damaging |
Het |
Esyt3 |
T |
C |
9: 99,206,290 (GRCm39) |
M40V |
probably benign |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gpr26 |
G |
T |
7: 131,568,805 (GRCm39) |
C50F |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,578,967 (GRCm39) |
I1993T |
possibly damaging |
Het |
Hsdl2 |
T |
A |
4: 59,610,636 (GRCm39) |
L211Q |
unknown |
Het |
Khdrbs2 |
A |
G |
1: 32,372,605 (GRCm39) |
E93G |
probably damaging |
Het |
Kif13b |
T |
C |
14: 65,004,904 (GRCm39) |
|
probably null |
Het |
Kif15 |
T |
A |
9: 122,815,254 (GRCm39) |
L423I |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,492,711 (GRCm39) |
V834A |
probably benign |
Het |
Lama3 |
T |
A |
18: 12,637,365 (GRCm39) |
Y28* |
probably null |
Het |
Mrtfb |
T |
C |
16: 13,202,064 (GRCm39) |
F120S |
probably damaging |
Het |
Ndufs3 |
C |
T |
2: 90,728,689 (GRCm39) |
|
probably benign |
Het |
Nfasc |
A |
T |
1: 132,523,329 (GRCm39) |
V887E |
probably damaging |
Het |
Npsr1 |
G |
A |
9: 24,225,065 (GRCm39) |
E358K |
possibly damaging |
Het |
Nrcam |
T |
C |
12: 44,618,985 (GRCm39) |
L828P |
possibly damaging |
Het |
Oprm1 |
T |
C |
10: 6,780,234 (GRCm39) |
Y299H |
probably damaging |
Het |
Or1j15 |
T |
A |
2: 36,459,030 (GRCm39) |
L140H |
probably damaging |
Het |
Osbpl8 |
T |
C |
10: 111,125,651 (GRCm39) |
V777A |
possibly damaging |
Het |
Pcnt |
T |
C |
10: 76,263,848 (GRCm39) |
E372G |
probably damaging |
Het |
Plekhh2 |
T |
C |
17: 84,925,427 (GRCm39) |
V1408A |
probably benign |
Het |
Sbk2 |
T |
C |
7: 4,960,627 (GRCm39) |
Y181C |
probably damaging |
Het |
Sf1 |
G |
A |
19: 6,418,470 (GRCm39) |
|
probably null |
Het |
Slc26a9 |
A |
G |
1: 131,695,587 (GRCm39) |
E765G |
possibly damaging |
Het |
Stab2 |
A |
G |
10: 86,758,049 (GRCm39) |
L1073P |
probably damaging |
Het |
Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
Taar3 |
A |
G |
10: 23,825,757 (GRCm39) |
D101G |
possibly damaging |
Het |
Thsd4 |
T |
C |
9: 59,904,505 (GRCm39) |
R204G |
probably benign |
Het |
Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
Ttn |
G |
A |
2: 76,748,114 (GRCm39) |
Q4312* |
probably null |
Het |
Ubtfl1 |
T |
C |
9: 18,321,264 (GRCm39) |
V264A |
probably damaging |
Het |
Vmn1r58 |
C |
A |
7: 5,413,654 (GRCm39) |
W192L |
probably damaging |
Het |
Washc5 |
C |
A |
15: 59,211,711 (GRCm39) |
C969F |
probably damaging |
Het |
Zdhhc14 |
A |
G |
17: 5,777,131 (GRCm39) |
K296R |
probably benign |
Het |
Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
Zfp9 |
G |
T |
6: 118,441,730 (GRCm39) |
P311T |
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 |
|
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 |
|
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'- GACCACTGTAGATTCCCTATTGCC -3'
(R):5'- TGCAAATACCTGTGAGCCCC -3'
Sequencing Primer
(F):5'- AGATTCCCTATTGCCTTTGGGGAC -3'
(R):5'- CCAGTACTCGGAAGATCCTGGTC -3'
|
Posted On |
2015-05-15 |