Incidental Mutation 'R7573:Map4k2'
| ID |
586192 |
| 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 |
045659-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R7573 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6391165-6405645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6394094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 300
(E300D)
|
| 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: E300D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: E300D
| 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: E256D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120123
Gene: ENSMUSG00000024948
AA Change: E256D
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (80/81) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,366,917 (GRCm39) |
I49F |
|
Het |
| 1810055G02Rik |
T |
A |
19: 3,765,728 (GRCm39) |
M1K |
probably null |
Het |
| Abcb1b |
G |
A |
5: 8,878,866 (GRCm39) |
C750Y |
possibly damaging |
Het |
| Abi2 |
T |
A |
1: 60,509,867 (GRCm39) |
V412D |
probably benign |
Het |
| Alk |
C |
T |
17: 72,207,787 (GRCm39) |
V983M |
probably damaging |
Het |
| Alppl2 |
A |
T |
1: 87,015,953 (GRCm39) |
W266R |
possibly damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,434,918 (GRCm39) |
R188G |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,478,008 (GRCm39) |
D695V |
probably damaging |
Het |
| B3gnt4 |
A |
T |
5: 123,648,718 (GRCm39) |
I28L |
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,068,914 (GRCm39) |
D536G |
|
Het |
| Cacna1c |
A |
G |
6: 118,581,406 (GRCm39) |
S1733P |
|
Het |
| Cacna1e |
T |
C |
1: 154,601,911 (GRCm39) |
|
probably benign |
Het |
| Capns1 |
A |
G |
7: 29,891,960 (GRCm39) |
F101L |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,922,015 (GRCm39) |
T1030A |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,159,329 (GRCm39) |
T2151A |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,953,220 (GRCm39) |
L1558Q |
probably damaging |
Het |
| Cfap157 |
T |
C |
2: 32,667,520 (GRCm39) |
H521R |
probably benign |
Het |
| Crygs |
T |
A |
16: 22,624,069 (GRCm39) |
*179C |
probably null |
Het |
| Ctsb |
T |
C |
14: 63,375,550 (GRCm39) |
V172A |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,830,836 (GRCm39) |
T1686A |
probably benign |
Het |
| Cutc |
T |
C |
19: 43,748,382 (GRCm39) |
V95A |
probably benign |
Het |
| Cxcl3 |
A |
G |
5: 90,934,105 (GRCm39) |
T26A |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 66,016,041 (GRCm39) |
V400A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,107,104 (GRCm39) |
N1139I |
possibly damaging |
Het |
| Fam136a |
G |
A |
6: 86,343,667 (GRCm39) |
E55K |
probably benign |
Het |
| Fam151a |
A |
G |
4: 106,600,502 (GRCm39) |
D179G |
probably damaging |
Het |
| Fam178b |
T |
C |
1: 36,671,533 (GRCm39) |
D196G |
probably damaging |
Het |
| Fut9 |
A |
T |
4: 25,620,691 (GRCm39) |
M41K |
probably benign |
Het |
| Gm9195 |
T |
C |
14: 72,694,122 (GRCm39) |
Q1531R |
probably null |
Het |
| Gpr6 |
A |
T |
10: 40,946,868 (GRCm39) |
V238D |
probably damaging |
Het |
| Hoxa2 |
A |
T |
6: 52,140,283 (GRCm39) |
S234R |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,103,337 (GRCm39) |
T143A |
probably benign |
Het |
| Kcnq2 |
A |
G |
2: 180,723,382 (GRCm39) |
S693P |
probably benign |
Het |
| Kif13b |
A |
G |
14: 65,041,107 (GRCm39) |
I1732V |
probably benign |
Het |
| Klhl14 |
A |
G |
18: 21,785,211 (GRCm39) |
V72A |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,722,954 (GRCm39) |
D348V |
probably benign |
Het |
| Mars1 |
A |
G |
10: 127,138,679 (GRCm39) |
|
probably null |
Het |
| Mpo |
A |
G |
11: 87,688,403 (GRCm39) |
D354G |
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,847,778 (GRCm39) |
T174A |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,172,450 (GRCm39) |
C1183Y |
probably damaging |
Het |
| Nfkb2 |
C |
A |
19: 46,297,082 (GRCm39) |
Q336K |
possibly damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,320,468 (GRCm39) |
|
probably null |
Het |
| Nlrp9b |
T |
C |
7: 19,753,125 (GRCm39) |
L10P |
probably damaging |
Het |
| Nrip2 |
A |
G |
6: 128,377,232 (GRCm39) |
S53G |
probably benign |
Het |
| Or13a22 |
G |
A |
7: 140,072,912 (GRCm39) |
M120I |
probably damaging |
Het |
| Or4k36 |
T |
C |
2: 111,146,277 (GRCm39) |
I151T |
probably benign |
Het |
| Or52a5b |
A |
G |
7: 103,416,677 (GRCm39) |
M309T |
probably benign |
Het |
| Or52z13 |
C |
T |
7: 103,246,735 (GRCm39) |
L71F |
probably benign |
Het |
| Or8b54 |
A |
T |
9: 38,686,791 (GRCm39) |
K80I |
probably damaging |
Het |
| Or8g18 |
C |
T |
9: 39,148,977 (GRCm39) |
V248I |
probably benign |
Het |
| Pak5 |
A |
G |
2: 135,958,225 (GRCm39) |
S288P |
probably damaging |
Het |
| Pjvk |
T |
C |
2: 76,487,809 (GRCm39) |
F234L |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,358,658 (GRCm39) |
N616D |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,506,852 (GRCm39) |
R9C |
probably damaging |
Het |
| Prom1 |
A |
G |
5: 44,213,272 (GRCm39) |
C154R |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 185,014,579 (GRCm39) |
W1243R |
probably benign |
Het |
| Rad17 |
C |
T |
13: 100,765,974 (GRCm39) |
A385T |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,349,310 (GRCm39) |
C3804R |
|
Het |
| Ros1 |
T |
A |
10: 52,046,072 (GRCm39) |
T153S |
probably benign |
Het |
| Sema4g |
T |
C |
19: 44,986,010 (GRCm39) |
S284P |
probably damaging |
Het |
| Septin9 |
C |
T |
11: 117,090,571 (GRCm39) |
|
probably benign |
Het |
| Slc2a9 |
T |
C |
5: 38,574,569 (GRCm39) |
S236G |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,398,256 (GRCm39) |
F674L |
probably benign |
Het |
| Slfn5 |
A |
T |
11: 82,849,585 (GRCm39) |
K361N |
probably damaging |
Het |
| Smad6 |
A |
G |
9: 63,929,052 (GRCm39) |
L88S |
unknown |
Het |
| Smarca4 |
T |
A |
9: 21,550,371 (GRCm39) |
|
probably null |
Het |
| Smg7 |
A |
T |
1: 152,735,240 (GRCm39) |
N198K |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,141,234 (GRCm39) |
Q1166* |
probably null |
Het |
| Stap1 |
A |
G |
5: 86,238,854 (GRCm39) |
N212S |
possibly damaging |
Het |
| Tbx2 |
C |
G |
11: 85,724,138 (GRCm39) |
A69G |
possibly damaging |
Het |
| Tmc1 |
C |
A |
19: 20,884,372 (GRCm39) |
D23Y |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,135,455 (GRCm39) |
D940E |
probably benign |
Het |
| Trim27 |
T |
A |
13: 21,364,770 (GRCm39) |
C36S |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,560,696 (GRCm39) |
G808D |
probably damaging |
Het |
| Usp17ld |
G |
T |
7: 102,900,094 (GRCm39) |
Y279* |
probably null |
Het |
| Usp40 |
G |
A |
1: 87,913,794 (GRCm39) |
A433V |
probably benign |
Het |
| Vmn1r49 |
G |
A |
6: 90,049,843 (GRCm39) |
A53V |
probably benign |
Het |
| Vmn1r84 |
T |
C |
7: 12,095,787 (GRCm39) |
N302S |
probably benign |
Het |
| Wfdc2 |
A |
T |
2: 164,407,741 (GRCm39) |
I137L |
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 |
|
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'- TACAGCAGAGAGGCTTCTGC -3'
(R):5'- TTCCTGACAGCCCTCTAAGATTAC -3'
Sequencing Primer
(F):5'- CAGAGAGGCTTCTGCAGGTG -3'
(R):5'- AACAGCCTTCCTTTCCACAGATG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation