Incidental Mutation 'R7632:Map4k2'
ID |
589728 |
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 |
045720-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.311)
|
Stock # |
R7632 (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 6394084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 297
(L297P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025897
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025897]
[ENSMUST00000056391]
[ENSMUST00000078137]
[ENSMUST00000079327]
[ENSMUST00000113500]
[ENSMUST00000113501]
[ENSMUST00000113502]
[ENSMUST00000113503]
[ENSMUST00000113504]
[ENSMUST00000124556]
[ENSMUST00000130382]
[ENSMUST00000142496]
[ENSMUST00000152349]
[ENSMUST00000166909]
|
AlphaFold |
Q61161 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025897
AA Change: L297P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025897 Gene: ENSMUSG00000024948 AA Change: L297P
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: ENSMUST00000056391
|
SMART Domains |
Protein: ENSMUSP00000058149 Gene: ENSMUSG00000024947
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
611 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000078137
|
SMART Domains |
Protein: ENSMUSP00000077272 Gene: ENSMUSG00000024947
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
396 |
2.6e-241 |
PFAM |
Pfam:Menin
|
392 |
556 |
1.5e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079327
|
SMART Domains |
Protein: ENSMUSP00000078306 Gene: ENSMUSG00000024947
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
611 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113500
|
SMART Domains |
Protein: ENSMUSP00000109128 Gene: ENSMUSG00000024947
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
611 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113501
|
SMART Domains |
Protein: ENSMUSP00000109129 Gene: ENSMUSG00000024947
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
183 |
2.6e-104 |
PFAM |
Pfam:Menin
|
184 |
576 |
3.2e-213 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113502
|
SMART Domains |
Protein: ENSMUSP00000109130 Gene: ENSMUSG00000024947
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
7 |
515 |
1.5e-254 |
PFAM |
Pfam:Menin
|
536 |
615 |
4.9e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113503
|
SMART Domains |
Protein: ENSMUSP00000109131 Gene: ENSMUSG00000024947
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
616 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113504
|
SMART Domains |
Protein: ENSMUSP00000109132 Gene: ENSMUSG00000024947
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
611 |
N/A |
PFAM |
|
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
AA Change: L253P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120123 Gene: ENSMUSG00000024948 AA Change: L253P
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166909
|
SMART Domains |
Protein: ENSMUSP00000133085 Gene: ENSMUSG00000024947
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
1 |
62 |
8.9e-29 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170292
|
SMART Domains |
Protein: ENSMUSP00000128607 Gene: ENSMUSG00000024947
Domain | Start | End | E-Value | Type |
Pfam:Menin
|
4 |
106 |
1.2e-28 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
95% (63/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap2a2 |
A |
G |
7: 141,211,236 (GRCm39) |
D924G |
probably benign |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Atrnl1 |
A |
G |
19: 57,618,738 (GRCm39) |
D152G |
probably damaging |
Het |
B3gnt8 |
A |
G |
7: 25,327,860 (GRCm39) |
I97V |
possibly damaging |
Het |
Bach1 |
A |
G |
16: 87,517,031 (GRCm39) |
D524G |
probably benign |
Het |
Caprin2 |
T |
C |
6: 148,784,954 (GRCm39) |
S107G |
probably damaging |
Het |
Ccnb1 |
A |
G |
13: 100,918,209 (GRCm39) |
I207T |
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,400,515 (GRCm39) |
D151G |
probably damaging |
Het |
Cdh9 |
A |
G |
15: 16,851,115 (GRCm39) |
|
probably null |
Het |
Cep83 |
A |
T |
10: 94,586,502 (GRCm39) |
R433W |
probably damaging |
Het |
Cspg4b |
C |
A |
13: 113,457,420 (GRCm39) |
S1155R |
|
Het |
D3Ertd751e |
A |
G |
3: 41,708,163 (GRCm39) |
E100G |
probably benign |
Het |
Dchs2 |
C |
T |
3: 83,255,357 (GRCm39) |
A2351V |
probably benign |
Het |
Dhx40 |
T |
C |
11: 86,690,263 (GRCm39) |
T253A |
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,036,680 (GRCm39) |
D228G |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,627,327 (GRCm39) |
M4002T |
probably benign |
Het |
Flcn |
C |
T |
11: 59,686,625 (GRCm39) |
W376* |
probably null |
Het |
Flnc |
A |
T |
6: 29,446,984 (GRCm39) |
Y1037F |
probably damaging |
Het |
Fut11 |
T |
A |
14: 20,745,096 (GRCm39) |
V9E |
probably benign |
Het |
Fv1 |
T |
A |
4: 147,954,392 (GRCm39) |
N319K |
possibly damaging |
Het |
Ghrhr |
G |
T |
6: 55,361,727 (GRCm39) |
G298V |
probably benign |
Het |
Gm5800 |
T |
A |
14: 51,953,905 (GRCm39) |
|
probably null |
Het |
Grin2b |
A |
G |
6: 135,709,553 (GRCm39) |
M1331T |
probably benign |
Het |
Hyou1 |
A |
G |
9: 44,292,433 (GRCm39) |
|
probably null |
Het |
Igkv1-117 |
C |
A |
6: 68,098,792 (GRCm39) |
Q114K |
probably damaging |
Het |
Igkv4-68 |
A |
G |
6: 69,282,048 (GRCm39) |
V41A |
possibly damaging |
Het |
Inpp4b |
A |
G |
8: 82,772,968 (GRCm39) |
N754S |
probably damaging |
Het |
Isl2 |
G |
A |
9: 55,448,440 (GRCm39) |
|
probably null |
Het |
Kat2a |
G |
A |
11: 100,599,422 (GRCm39) |
Q523* |
probably null |
Het |
Lypd3 |
T |
C |
7: 24,337,865 (GRCm39) |
F77S |
possibly damaging |
Het |
Naca |
T |
C |
10: 127,876,375 (GRCm39) |
V469A |
unknown |
Het |
Notch3 |
C |
T |
17: 32,377,480 (GRCm39) |
V199I |
probably benign |
Het |
Or4k44 |
T |
C |
2: 111,368,521 (GRCm39) |
I38V |
possibly damaging |
Het |
Or5b119 |
T |
C |
19: 13,456,795 (GRCm39) |
M256V |
possibly damaging |
Het |
Pabpc1 |
TGTACCTGTTGCATGGTA |
TGTA |
15: 36,598,212 (GRCm39) |
|
probably null |
Het |
Pcdhb8 |
A |
T |
18: 37,488,648 (GRCm39) |
I109L |
probably benign |
Het |
Pde2a |
A |
G |
7: 101,133,801 (GRCm39) |
D104G |
possibly damaging |
Het |
Phip |
A |
G |
9: 82,785,243 (GRCm39) |
V824A |
probably benign |
Het |
Plekhg4 |
T |
C |
8: 106,106,782 (GRCm39) |
Y853H |
probably damaging |
Het |
Plod1 |
T |
C |
4: 148,011,481 (GRCm39) |
K248R |
probably damaging |
Het |
Plxnd1 |
A |
T |
6: 115,953,600 (GRCm39) |
Y656N |
probably benign |
Het |
Pogz |
G |
A |
3: 94,763,517 (GRCm39) |
|
probably null |
Het |
Ppp1r3e |
T |
A |
14: 55,114,526 (GRCm39) |
S79C |
probably damaging |
Het |
Pprc1 |
T |
A |
19: 46,060,721 (GRCm39) |
D1595E |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,547,783 (GRCm39) |
V205A |
probably benign |
Het |
Rad51ap2 |
T |
C |
12: 11,507,116 (GRCm39) |
V346A |
possibly damaging |
Het |
Rgs12 |
T |
A |
5: 35,122,934 (GRCm39) |
L239H |
probably damaging |
Het |
Rrp8 |
T |
C |
7: 105,385,727 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
GGCG |
GGCGACCGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Scaf1 |
A |
T |
7: 44,656,503 (GRCm39) |
V792D |
unknown |
Het |
Scrn2 |
G |
T |
11: 96,923,968 (GRCm39) |
R284L |
possibly damaging |
Het |
Sgsm1 |
T |
A |
5: 113,423,948 (GRCm39) |
Q461L |
possibly damaging |
Het |
Slc18b1 |
A |
G |
10: 23,702,080 (GRCm39) |
T434A |
probably benign |
Het |
Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
Snx33 |
A |
T |
9: 56,833,702 (GRCm39) |
D122E |
probably damaging |
Het |
Srebf2 |
G |
T |
15: 82,069,497 (GRCm39) |
V680L |
probably benign |
Het |
Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
Tecpr1 |
C |
T |
5: 144,155,544 (GRCm39) |
V5M |
probably benign |
Het |
Tfg |
A |
G |
16: 56,532,997 (GRCm39) |
V54A |
possibly damaging |
Het |
Tmem237 |
C |
T |
1: 59,156,060 (GRCm39) |
C30Y |
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,916,787 (GRCm39) |
K444R |
probably benign |
Het |
Trim25 |
T |
G |
11: 88,906,602 (GRCm39) |
L446R |
probably null |
Het |
Usp37 |
T |
C |
1: 74,507,533 (GRCm39) |
T495A |
probably benign |
Het |
Vmn1r94 |
T |
G |
7: 19,901,696 (GRCm39) |
T203P |
probably damaging |
Het |
Ywhah |
T |
A |
5: 33,184,010 (GRCm39) |
M71K |
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 |
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 |
|
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'- TTCCTCAAGCTGGCCCTAAC -3'
(R):5'- AGGAGGACTGCTTAGTCACAG -3'
Sequencing Primer
(F):5'- TACAGCAGAGAGGCTTCTGC -3'
(R):5'- AGGACTGCTTAGTCACAGTCATG -3'
|
Posted On |
2019-10-24 |