Incidental Mutation 'R5226:Map4k2'
ID |
402648 |
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 |
042799-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.311)
|
Stock # |
R5226 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6391165-6405645 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 6396534 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025897]
[ENSMUST00000124556]
[ENSMUST00000152349]
[ENSMUST00000130382]
[ENSMUST00000142496]
|
AlphaFold |
Q61161 |
Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000184812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154900
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152912
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137095
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155569
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140098
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133696
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148410
|
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 |
|
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: ENSMUST00000142496
|
SMART Domains |
Protein: ENSMUSP00000114243 Gene: ENSMUSG00000024948
Domain | Start | End | E-Value | Type |
Pfam:Pkinase
|
16 |
56 |
4e-7 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (66/66) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
C |
9: 124,056,706 (GRCm39) |
K98E |
possibly damaging |
Het |
4933414I15Rik |
A |
T |
11: 50,833,416 (GRCm39) |
M62K |
unknown |
Het |
Akr1d1 |
T |
A |
6: 37,512,949 (GRCm39) |
|
probably null |
Het |
Ankrd63 |
T |
C |
2: 118,533,736 (GRCm39) |
|
probably benign |
Het |
Atad5 |
T |
C |
11: 79,985,888 (GRCm39) |
V325A |
probably damaging |
Het |
Atp13a5 |
G |
T |
16: 29,067,031 (GRCm39) |
N1025K |
probably damaging |
Het |
Atrnl1 |
G |
T |
19: 57,638,767 (GRCm39) |
V302L |
probably benign |
Het |
Bend7 |
C |
A |
2: 4,757,789 (GRCm39) |
S277* |
probably null |
Het |
Btnl7-ps |
A |
T |
17: 34,752,261 (GRCm39) |
|
noncoding transcript |
Het |
Cbx4 |
T |
C |
11: 118,972,754 (GRCm39) |
Y207C |
probably damaging |
Het |
Ctla2b |
C |
T |
13: 61,044,146 (GRCm39) |
W63* |
probably null |
Het |
Cux1 |
T |
C |
5: 136,399,027 (GRCm39) |
T170A |
probably benign |
Het |
Cyp3a57 |
T |
C |
5: 145,302,507 (GRCm39) |
V101A |
probably benign |
Het |
Dao |
A |
T |
5: 114,159,094 (GRCm39) |
T267S |
probably benign |
Het |
Dsp |
A |
G |
13: 38,370,746 (GRCm39) |
D883G |
probably damaging |
Het |
Dynlt4 |
A |
G |
4: 116,985,290 (GRCm39) |
T38A |
possibly damaging |
Het |
Eif4g3 |
C |
A |
4: 137,824,105 (GRCm39) |
P36T |
possibly damaging |
Het |
Elf3 |
G |
A |
1: 135,184,977 (GRCm39) |
L70F |
probably benign |
Het |
Epb41l4a |
C |
T |
18: 33,943,366 (GRCm39) |
D510N |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,726,126 (GRCm39) |
S594P |
probably benign |
Het |
Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
Gpr132 |
T |
C |
12: 112,815,768 (GRCm39) |
T353A |
probably benign |
Het |
Kntc1 |
A |
G |
5: 123,932,235 (GRCm39) |
D1343G |
probably benign |
Het |
L3mbtl4 |
T |
A |
17: 69,071,717 (GRCm39) |
|
probably null |
Het |
Lrit2 |
A |
G |
14: 36,794,310 (GRCm39) |
E458G |
probably damaging |
Het |
Man1c1 |
A |
T |
4: 134,305,680 (GRCm39) |
I348N |
probably damaging |
Het |
Nt5c2 |
A |
C |
19: 46,887,068 (GRCm39) |
Y203D |
probably damaging |
Het |
Oxgr1 |
A |
G |
14: 120,259,665 (GRCm39) |
S181P |
probably damaging |
Het |
Parn |
A |
G |
16: 13,443,416 (GRCm39) |
C400R |
probably benign |
Het |
Pcdhgb7 |
T |
C |
18: 37,885,577 (GRCm39) |
V249A |
probably benign |
Het |
Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
Plcg2 |
A |
T |
8: 118,304,613 (GRCm39) |
I273F |
possibly damaging |
Het |
Plin1 |
A |
G |
7: 79,372,447 (GRCm39) |
V64A |
probably damaging |
Het |
Ppfia4 |
C |
A |
1: 134,232,024 (GRCm39) |
|
probably null |
Het |
Prkg2 |
A |
C |
5: 99,124,321 (GRCm39) |
D376E |
possibly damaging |
Het |
Ptgir |
T |
A |
7: 16,642,645 (GRCm39) |
I82N |
probably damaging |
Het |
Pum2 |
C |
T |
12: 8,763,458 (GRCm39) |
P205L |
possibly damaging |
Het |
Rab26 |
T |
A |
17: 24,753,107 (GRCm39) |
|
probably benign |
Het |
Recql4 |
T |
C |
15: 76,594,329 (GRCm39) |
E63G |
probably benign |
Het |
Rora |
T |
A |
9: 69,271,423 (GRCm39) |
|
probably benign |
Het |
Rp1 |
A |
C |
1: 4,418,256 (GRCm39) |
M952R |
probably benign |
Het |
Rpap3 |
T |
A |
15: 97,601,104 (GRCm39) |
R44S |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc12a2 |
C |
A |
18: 58,012,092 (GRCm39) |
P72T |
probably damaging |
Het |
Slc1a3 |
C |
T |
15: 8,671,709 (GRCm39) |
V416M |
probably damaging |
Het |
Slfn4 |
A |
T |
11: 83,078,375 (GRCm39) |
M388L |
possibly damaging |
Het |
Snrnp48 |
G |
A |
13: 38,389,093 (GRCm39) |
A49T |
probably benign |
Het |
Tlx2 |
C |
T |
6: 83,045,911 (GRCm39) |
G228D |
possibly damaging |
Het |
Tmem132a |
A |
G |
19: 10,844,508 (GRCm39) |
V30A |
possibly damaging |
Het |
Tnfrsf23 |
C |
A |
7: 143,239,522 (GRCm39) |
L24F |
possibly damaging |
Het |
Ubr2 |
A |
T |
17: 47,294,196 (GRCm39) |
N312K |
probably benign |
Het |
Vmn1r115 |
C |
T |
7: 20,578,169 (GRCm39) |
V248I |
probably damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,029,874 (GRCm39) |
T567A |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,852,835 (GRCm39) |
T2372A |
probably benign |
Het |
Wnt10b |
G |
T |
15: 98,674,495 (GRCm39) |
H81N |
probably damaging |
Het |
Zfp948 |
A |
G |
17: 21,808,505 (GRCm39) |
T566A |
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 |
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'- GCAATAACTTAGGACACCCTTAGC -3'
(R):5'- ATGCGCCCAGATATGTGTGG -3'
Sequencing Primer
(F):5'- CTTGGGCTAGGAACATGTGGC -3'
(R):5'- TGGATTTCCCTGAAGCGGAAC -3'
|
Posted On |
2016-07-22 |