Incidental Mutation 'R9351:Map4k2'
ID |
708100 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.311)
|
Stock # |
R9351 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
6391165-6405645 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6401223 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 590
(S590P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025897
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025897]
[ENSMUST00000124556]
[ENSMUST00000142496]
|
AlphaFold |
Q61161 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025897
AA Change: S590P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000025897 Gene: ENSMUSG00000024948 AA Change: S590P
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 |
|
SMART Domains |
Protein: ENSMUSP00000121856 Gene: ENSMUSG00000024948 AA Change: S44P
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 |
|
Meta Mutation Damage Score |
0.7160 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (54/54) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
G |
10: 87,066,068 (GRCm39) |
T84A |
probably benign |
Het |
Abca17 |
G |
A |
17: 24,510,751 (GRCm39) |
S909L |
probably benign |
Het |
Adamtsl3 |
A |
T |
7: 82,169,929 (GRCm39) |
Y371F |
possibly damaging |
Het |
Adcy9 |
A |
T |
16: 4,236,228 (GRCm39) |
S394R |
probably damaging |
Het |
Ahcyl1 |
T |
C |
3: 107,575,011 (GRCm39) |
N444S |
probably damaging |
Het |
Ahnak |
A |
C |
19: 8,985,232 (GRCm39) |
D2172A |
probably damaging |
Het |
Arhgef28 |
C |
T |
13: 98,130,576 (GRCm39) |
D421N |
probably benign |
Het |
Brd1 |
T |
A |
15: 88,614,307 (GRCm39) |
E196V |
possibly damaging |
Het |
Cabs1 |
A |
G |
5: 88,128,300 (GRCm39) |
D317G |
probably damaging |
Het |
Ccdc96 |
T |
C |
5: 36,642,069 (GRCm39) |
I25T |
unknown |
Het |
Clgn |
A |
G |
8: 84,153,218 (GRCm39) |
R607G |
possibly damaging |
Het |
Clp1 |
T |
C |
2: 84,554,195 (GRCm39) |
K325E |
probably benign |
Het |
Dcun1d1 |
A |
T |
3: 35,975,185 (GRCm39) |
I52K |
probably benign |
Het |
Dync2h1 |
G |
A |
9: 7,176,911 (GRCm39) |
T16I |
probably damaging |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,771 (GRCm39) |
I411F |
probably benign |
Het |
Epb41l5 |
A |
G |
1: 119,477,639 (GRCm39) |
F711L |
probably benign |
Het |
Esr1 |
G |
A |
10: 4,696,763 (GRCm39) |
W204* |
probably null |
Het |
Fat2 |
A |
G |
11: 55,172,127 (GRCm39) |
L2862P |
probably damaging |
Het |
Frmd3 |
A |
G |
4: 74,054,068 (GRCm39) |
E159G |
probably damaging |
Het |
Gsto2 |
T |
A |
19: 47,874,608 (GRCm39) |
C243S |
possibly damaging |
Het |
Heg1 |
A |
G |
16: 33,545,867 (GRCm39) |
H206R |
probably benign |
Het |
Ifi203 |
A |
G |
1: 173,750,133 (GRCm39) |
V862A |
probably benign |
Het |
Ippk |
C |
T |
13: 49,615,107 (GRCm39) |
H497Y |
probably benign |
Het |
Irf5 |
A |
T |
6: 29,531,317 (GRCm39) |
N61I |
possibly damaging |
Het |
Iws1 |
G |
A |
18: 32,213,213 (GRCm39) |
E214K |
possibly damaging |
Het |
Kcnj12 |
C |
T |
11: 60,960,673 (GRCm39) |
H324Y |
probably damaging |
Het |
Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
Lars2 |
A |
G |
9: 123,265,366 (GRCm39) |
Q474R |
probably benign |
Het |
Lctl |
T |
C |
9: 64,040,473 (GRCm39) |
F472S |
possibly damaging |
Het |
Mcf2l |
G |
T |
8: 13,050,757 (GRCm39) |
L337F |
possibly damaging |
Het |
Mvp |
A |
G |
7: 126,595,435 (GRCm39) |
V225A |
probably damaging |
Het |
Nfat5 |
T |
A |
8: 108,065,910 (GRCm39) |
D241E |
probably damaging |
Het |
Or6n2 |
T |
A |
1: 173,897,021 (GRCm39) |
D52E |
probably benign |
Het |
Pagr1a |
A |
T |
7: 126,616,073 (GRCm39) |
H7Q |
probably damaging |
Het |
Parp8 |
G |
T |
13: 117,000,781 (GRCm39) |
Q787K |
probably damaging |
Het |
Pcdhb2 |
C |
A |
18: 37,429,369 (GRCm39) |
N90K |
probably damaging |
Het |
Pde6h |
A |
G |
6: 136,936,332 (GRCm39) |
K25R |
probably benign |
Het |
Prr35 |
G |
A |
17: 26,166,118 (GRCm39) |
Q390* |
probably null |
Het |
Psd3 |
C |
A |
8: 68,413,301 (GRCm39) |
A410S |
probably benign |
Het |
Pus10 |
A |
G |
11: 23,617,311 (GRCm39) |
N8S |
probably benign |
Het |
Rnf115 |
T |
C |
3: 96,695,994 (GRCm39) |
L260S |
probably damaging |
Het |
Sdsl |
A |
T |
5: 120,601,159 (GRCm39) |
Y38N |
probably benign |
Het |
Sf1 |
A |
G |
19: 6,415,694 (GRCm39) |
D11G |
probably damaging |
Het |
Stxbp5l |
A |
G |
16: 36,936,047 (GRCm39) |
Y1177H |
probably damaging |
Het |
Taar2 |
G |
A |
10: 23,816,900 (GRCm39) |
V147I |
probably benign |
Het |
Tmed3 |
A |
T |
9: 89,584,980 (GRCm39) |
F92I |
possibly damaging |
Het |
Tmprss15 |
T |
C |
16: 78,832,086 (GRCm39) |
T357A |
probably damaging |
Het |
Trbv14 |
A |
T |
6: 41,112,428 (GRCm39) |
D75V |
probably damaging |
Het |
Vmn1r30 |
A |
G |
6: 58,412,262 (GRCm39) |
V190A |
probably benign |
Het |
Vmn2r115 |
A |
T |
17: 23,578,482 (GRCm39) |
I652F |
probably benign |
Het |
Vmn2r26 |
A |
T |
6: 124,016,333 (GRCm39) |
M266L |
probably benign |
Het |
Wdr17 |
T |
C |
8: 55,143,057 (GRCm39) |
I198V |
probably benign |
Het |
Wdr27 |
G |
A |
17: 15,128,833 (GRCm39) |
A540V |
possibly damaging |
Het |
Zfp26 |
A |
C |
9: 20,349,447 (GRCm39) |
Y372* |
probably null |
Het |
Zfp286 |
A |
G |
11: 62,670,801 (GRCm39) |
V424A |
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 |
|
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 |
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'- AGTTCCTTACAGCTCTTGCAG -3'
(R):5'- CTTCAGCAGCAGGAATTTCTG -3'
Sequencing Primer
(F):5'- TTACAGCTCTTGCAGGCCGG -3'
(R):5'- AGTGGCTCATACCATTGCAG -3'
|
Posted On |
2022-04-18 |