Incidental Mutation 'R8257:Map4k2'
| ID |
640540 |
| 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 |
067683-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
R8257 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6391165-6405645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6396030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 455
(R455H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025897]
[ENSMUST00000124556]
[ENSMUST00000130382]
[ENSMUST00000142496]
[ENSMUST00000152349]
|
| AlphaFold |
Q61161 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025897
AA Change: R455H
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: R455H
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,950,153 (GRCm39) |
K1350R |
probably benign |
Het |
| 4933407L21Rik |
T |
A |
1: 85,859,060 (GRCm39) |
C70* |
probably null |
Het |
| Akr1c6 |
G |
A |
13: 4,488,525 (GRCm39) |
V97I |
probably benign |
Het |
| Alg9 |
A |
T |
9: 50,690,387 (GRCm39) |
I130F |
possibly damaging |
Het |
| Ankle2 |
G |
T |
5: 110,401,781 (GRCm39) |
|
probably null |
Het |
| Ankrd34a |
A |
T |
3: 96,505,045 (GRCm39) |
H83L |
possibly damaging |
Het |
| Aoc1l2 |
A |
G |
6: 48,909,431 (GRCm39) |
T559A |
probably benign |
Het |
| Ate1 |
T |
C |
7: 130,069,037 (GRCm39) |
Y367C |
probably damaging |
Het |
| Atg9b |
C |
T |
5: 24,591,303 (GRCm39) |
|
probably benign |
Het |
| Atp2c1 |
A |
G |
9: 105,308,756 (GRCm39) |
S626P |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,614,606 (GRCm39) |
N1069S |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,921,962 (GRCm39) |
D753G |
probably benign |
Het |
| Cdk11b |
A |
G |
4: 155,732,398 (GRCm39) |
E517G |
unknown |
Het |
| Chst5 |
A |
T |
8: 112,617,092 (GRCm39) |
V176E |
probably damaging |
Het |
| Ddx50 |
T |
C |
10: 62,452,299 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
G |
5: 104,324,867 (GRCm39) |
D410G |
probably benign |
Het |
| Dync1h1 |
T |
A |
12: 110,602,908 (GRCm39) |
V2183E |
probably damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,995 (GRCm39) |
V577A |
probably benign |
Het |
| Entpd2 |
T |
A |
2: 25,288,133 (GRCm39) |
L119Q |
probably damaging |
Het |
| Foxa1 |
A |
T |
12: 57,589,932 (GRCm39) |
M96K |
probably benign |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| H2-Aa |
T |
C |
17: 34,502,211 (GRCm39) |
T237A |
probably damaging |
Het |
| Itih4 |
G |
A |
14: 30,609,825 (GRCm39) |
V52I |
possibly damaging |
Het |
| Kntc1 |
T |
C |
5: 123,896,586 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
A |
T |
7: 30,766,766 (GRCm39) |
|
probably null |
Het |
| Masp2 |
A |
G |
4: 148,687,497 (GRCm39) |
T95A |
possibly damaging |
Het |
| Mtmr12 |
T |
C |
15: 12,259,684 (GRCm39) |
I351T |
possibly damaging |
Het |
| Ncdn |
A |
G |
4: 126,643,676 (GRCm39) |
|
probably null |
Het |
| Nckipsd |
A |
G |
9: 108,692,127 (GRCm39) |
E516G |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,297,962 (GRCm39) |
W70R |
probably damaging |
Het |
| Nmral1 |
T |
A |
16: 4,534,267 (GRCm39) |
D58V |
probably damaging |
Het |
| Nr2c1 |
A |
G |
10: 94,028,769 (GRCm39) |
Y522C |
probably damaging |
Het |
| Or14c45 |
A |
G |
7: 86,176,678 (GRCm39) |
T238A |
possibly damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,203 (GRCm39) |
M274T |
probably benign |
Het |
| Or2d3b |
A |
G |
7: 106,513,926 (GRCm39) |
I174V |
probably benign |
Het |
| Or2w1b |
A |
G |
13: 21,300,543 (GRCm39) |
N227S |
probably benign |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,868 (GRCm39) |
N529K |
probably benign |
Het |
| Pkmyt1 |
C |
T |
17: 23,953,148 (GRCm39) |
R235W |
probably benign |
Het |
| Prss43 |
T |
C |
9: 110,659,880 (GRCm39) |
S315P |
possibly damaging |
Het |
| Psmd1 |
T |
A |
1: 86,006,345 (GRCm39) |
V237E |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,083,476 (GRCm39) |
Y844H |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,764,064 (GRCm39) |
V3089I |
possibly damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,865,394 (GRCm39) |
D294G |
possibly damaging |
Het |
| Slc5a10 |
T |
A |
11: 61,605,873 (GRCm39) |
T148S |
probably damaging |
Het |
| Spata25 |
T |
C |
2: 164,669,690 (GRCm39) |
D107G |
possibly damaging |
Het |
| Stambpl1 |
A |
G |
19: 34,208,901 (GRCm39) |
E132G |
probably damaging |
Het |
| Tgfb1 |
A |
G |
7: 25,396,373 (GRCm39) |
H222R |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Trmt1l |
T |
A |
1: 151,304,629 (GRCm39) |
M1K |
probably null |
Het |
| Vmn2r86 |
A |
T |
10: 130,288,279 (GRCm39) |
H407Q |
possibly damaging |
Het |
| Wdr36 |
T |
A |
18: 32,974,339 (GRCm39) |
|
probably benign |
Het |
| Zfp35 |
T |
A |
18: 24,137,288 (GRCm39) |
I544N |
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 |
|
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 |
|
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'- ATCTGGTGACAATGCCCAGTC -3'
(R):5'- CCATTGAAGACCTTGGAGAAGC -3'
Sequencing Primer
(F):5'- GACAATGCCCAGTCCTGCTC -3'
(R):5'- TTGGAGAAGCAGGCACCCATC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation