Incidental Mutation 'R5908:Map4k2'
ID |
501682 |
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 |
044105-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
R5908 (G1)
|
Quality Score |
123 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6391165-6405645 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 6401346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114243
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025897]
[ENSMUST00000124556]
[ENSMUST00000142496]
|
AlphaFold |
Q61161 |
Predicted Effect |
silent
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: 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 |
silent
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: ENSMUST00000137095
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154900
|
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: ENSMUST00000184812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155655
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142862
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.8%
|
Validation Efficiency |
97% (69/71) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
T |
17: 46,624,730 (GRCm39) |
L198H |
probably damaging |
Het |
Anks1 |
C |
T |
17: 28,214,993 (GRCm39) |
T480I |
probably damaging |
Het |
Arhgef18 |
G |
A |
8: 3,503,165 (GRCm39) |
R857Q |
probably damaging |
Het |
B230208B08Rik |
A |
G |
4: 78,132,297 (GRCm39) |
|
noncoding transcript |
Het |
B9d2 |
T |
A |
7: 25,382,724 (GRCm39) |
W33R |
probably damaging |
Het |
Bcl2a1c |
A |
G |
9: 114,159,572 (GRCm39) |
T117A |
probably benign |
Het |
Btbd8 |
T |
G |
5: 107,655,460 (GRCm39) |
D574E |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,557,366 (GRCm39) |
S1091P |
probably damaging |
Het |
Clip3 |
C |
A |
7: 29,996,298 (GRCm39) |
D64E |
probably damaging |
Het |
Col6a5 |
C |
G |
9: 105,740,000 (GRCm39) |
D2540H |
possibly damaging |
Het |
Commd5 |
A |
T |
15: 76,785,136 (GRCm39) |
M178L |
probably benign |
Het |
Crtc3 |
T |
A |
7: 80,245,542 (GRCm39) |
H361L |
possibly damaging |
Het |
Dip2b |
T |
A |
15: 100,049,065 (GRCm39) |
L153Q |
possibly damaging |
Het |
Eif2s1 |
T |
A |
12: 78,926,817 (GRCm39) |
V189D |
probably damaging |
Het |
Etl4 |
C |
T |
2: 20,748,718 (GRCm39) |
A483V |
probably damaging |
Het |
Foxo3 |
T |
C |
10: 42,072,583 (GRCm39) |
I645V |
probably benign |
Het |
Gm4841 |
A |
G |
18: 60,403,506 (GRCm39) |
S196P |
possibly damaging |
Het |
Hip1 |
A |
G |
5: 135,453,717 (GRCm39) |
|
probably null |
Het |
Il36rn |
G |
T |
2: 24,167,502 (GRCm39) |
|
probably benign |
Het |
Ints2 |
A |
G |
11: 86,106,371 (GRCm39) |
|
probably null |
Het |
Khnyn |
A |
G |
14: 56,124,523 (GRCm39) |
D259G |
probably benign |
Het |
Lyst |
T |
A |
13: 13,871,346 (GRCm39) |
Y2694* |
probably null |
Het |
Marchf10 |
C |
T |
11: 105,281,065 (GRCm39) |
V407I |
probably benign |
Het |
Mast4 |
C |
A |
13: 102,874,764 (GRCm39) |
V1367F |
probably damaging |
Het |
Mrgprb3 |
A |
T |
7: 48,293,366 (GRCm39) |
S62T |
probably damaging |
Het |
Mthfd1l |
T |
C |
10: 4,039,392 (GRCm39) |
F801S |
probably damaging |
Het |
Nhsl3 |
A |
G |
4: 129,115,941 (GRCm39) |
S908P |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,031,239 (GRCm39) |
|
probably benign |
Het |
Nr2e1 |
T |
C |
10: 42,448,765 (GRCm39) |
S158G |
probably benign |
Het |
Nup214 |
A |
G |
2: 31,881,353 (GRCm39) |
I404V |
probably benign |
Het |
Or13n4 |
T |
C |
7: 106,423,404 (GRCm39) |
T110A |
probably benign |
Het |
Pik3c2g |
G |
A |
6: 139,714,436 (GRCm39) |
R196H |
|
Het |
Pik3r3 |
A |
T |
4: 116,129,955 (GRCm39) |
D213V |
probably benign |
Het |
Pip5k1b |
A |
T |
19: 24,374,501 (GRCm39) |
S27T |
possibly damaging |
Het |
Pkp1 |
G |
A |
1: 135,846,621 (GRCm39) |
Q44* |
probably null |
Het |
Pnma8b |
C |
T |
7: 16,680,968 (GRCm39) |
R651C |
unknown |
Het |
Pnpt1 |
T |
A |
11: 29,080,887 (GRCm39) |
S44T |
probably benign |
Het |
Polb |
A |
T |
8: 23,132,319 (GRCm39) |
|
probably null |
Het |
Pom121l2 |
A |
G |
13: 22,165,984 (GRCm39) |
N85S |
probably damaging |
Het |
Prim1 |
A |
G |
10: 127,853,893 (GRCm39) |
K104E |
probably damaging |
Het |
Prl8a1 |
T |
A |
13: 27,758,040 (GRCm39) |
Y223F |
probably benign |
Het |
Rbak |
T |
G |
5: 143,159,391 (GRCm39) |
H554P |
probably damaging |
Het |
Serpina3c |
T |
C |
12: 104,117,970 (GRCm39) |
R123G |
probably benign |
Het |
Sh3bp4 |
T |
G |
1: 89,073,605 (GRCm39) |
S818A |
probably damaging |
Het |
Sh3rf3 |
C |
G |
10: 58,885,270 (GRCm39) |
H384Q |
probably benign |
Het |
Slc9a8 |
C |
T |
2: 167,293,090 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
T |
C |
7: 27,103,678 (GRCm39) |
E1181G |
probably benign |
Het |
Taf2 |
G |
A |
15: 54,935,402 (GRCm39) |
|
probably benign |
Het |
Taf7l2 |
A |
T |
10: 115,949,133 (GRCm39) |
I131N |
probably benign |
Het |
Tbc1d9 |
A |
T |
8: 83,976,174 (GRCm39) |
M578L |
probably benign |
Het |
Tinagl1 |
G |
T |
4: 130,066,763 (GRCm39) |
Y111* |
probably null |
Het |
Tor2a |
T |
C |
2: 32,651,697 (GRCm39) |
L304P |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,067,304 (GRCm39) |
V474A |
probably benign |
Het |
Trrap |
C |
A |
5: 144,723,518 (GRCm39) |
A325E |
probably damaging |
Het |
Ube4a |
A |
G |
9: 44,859,322 (GRCm39) |
|
probably null |
Het |
Use1 |
G |
C |
8: 71,822,257 (GRCm39) |
K239N |
probably damaging |
Het |
Vps9d1 |
G |
T |
8: 123,973,563 (GRCm39) |
Q407K |
probably benign |
Het |
Zfp36l1 |
A |
T |
12: 80,156,449 (GRCm39) |
S311T |
possibly damaging |
Het |
Zfp729b |
T |
C |
13: 67,739,374 (GRCm39) |
K964E |
probably benign |
Het |
Zfp974 |
T |
A |
7: 27,610,382 (GRCm39) |
M448L |
probably benign |
Het |
Zfyve28 |
A |
T |
5: 34,374,214 (GRCm39) |
V600E |
possibly 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 |
|
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 |
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'- GGTCTCATCCATAAAGCCAGG -3'
(R):5'- CAGAGAGGCTTGGCTGTTTC -3'
Sequencing Primer
(F):5'- ACTACGTCACAGGGTTTAGTG -3'
(R):5'- AGAGAGGCTTGGCTGTTTCTTCTG -3'
|
Posted On |
2017-12-01 |