Incidental Mutation 'R5687:Map4k2'
| ID |
443465 |
| 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 |
043320-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R5687 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6391165-6405645 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 6395672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025897]
[ENSMUST00000056391]
[ENSMUST00000078137]
[ENSMUST00000079327]
[ENSMUST00000113500]
[ENSMUST00000113501]
[ENSMUST00000113502]
[ENSMUST00000142496]
[ENSMUST00000124556]
[ENSMUST00000113504]
[ENSMUST00000130382]
[ENSMUST00000152349]
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000126841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124333
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123468
|
| 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: 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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000155569
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152912
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156154
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152259
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
99% (72/73) |
| 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 |
|---|
| Adamts20 |
T |
A |
15: 94,223,852 (GRCm39) |
D1292V |
probably benign |
Het |
| Adcy2 |
A |
T |
13: 68,768,938 (GRCm39) |
C1063* |
probably null |
Het |
| Adcy2 |
A |
T |
13: 68,790,688 (GRCm39) |
V892D |
probably damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,648,329 (GRCm39) |
D497G |
probably benign |
Het |
| Anks1b |
A |
C |
10: 90,750,573 (GRCm39) |
I195L |
probably benign |
Het |
| Asmt |
G |
T |
X: 169,111,749 (GRCm39) |
S377I |
unknown |
Het |
| C1s1 |
T |
A |
6: 124,517,909 (GRCm39) |
T24S |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,342,854 (GRCm39) |
|
probably benign |
Het |
| Ccndbp1 |
T |
C |
2: 120,845,183 (GRCm39) |
|
probably benign |
Het |
| Cct8 |
T |
C |
16: 87,285,709 (GRCm39) |
I250V |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,234,684 (GRCm39) |
T135A |
possibly damaging |
Het |
| Col11a1 |
T |
C |
3: 114,010,752 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,379,529 (GRCm39) |
M575T |
probably benign |
Het |
| Dmp1 |
C |
T |
5: 104,354,952 (GRCm39) |
|
probably benign |
Het |
| Emc1 |
G |
T |
4: 139,102,691 (GRCm39) |
R950L |
probably damaging |
Het |
| Enpep |
T |
C |
3: 129,092,743 (GRCm39) |
|
probably null |
Het |
| Eya1 |
G |
A |
1: 14,253,476 (GRCm39) |
T500I |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,230,126 (GRCm39) |
F54L |
probably damaging |
Het |
| Fbxo8 |
A |
G |
8: 57,044,552 (GRCm39) |
K285R |
probably damaging |
Het |
| Galnt1 |
A |
T |
18: 24,405,807 (GRCm39) |
E416D |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,419,232 (GRCm39) |
|
probably null |
Het |
| Gm10800 |
T |
A |
2: 98,496,965 (GRCm39) |
Y196F |
probably benign |
Het |
| Gmpr |
T |
A |
13: 45,692,496 (GRCm39) |
|
probably null |
Het |
| Jrkl |
C |
T |
9: 13,244,387 (GRCm39) |
E425K |
probably benign |
Het |
| Kl |
T |
G |
5: 150,911,931 (GRCm39) |
I560S |
possibly damaging |
Het |
| Kyat3 |
C |
A |
3: 142,440,343 (GRCm39) |
R356S |
probably null |
Het |
| Lrig2 |
C |
T |
3: 104,371,388 (GRCm39) |
|
probably null |
Het |
| Lrrc47 |
A |
G |
4: 154,100,140 (GRCm39) |
T239A |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,844,144 (GRCm39) |
S1469P |
probably damaging |
Het |
| Mthfd1l |
G |
A |
10: 3,940,002 (GRCm39) |
|
probably null |
Het |
| Mvk |
G |
T |
5: 114,588,826 (GRCm39) |
G144V |
probably damaging |
Het |
| Nasp |
T |
A |
4: 116,463,002 (GRCm39) |
|
probably benign |
Het |
| Ndst4 |
A |
C |
3: 125,232,258 (GRCm39) |
N276H |
possibly damaging |
Het |
| Nsmf |
C |
T |
2: 24,946,079 (GRCm39) |
P189S |
probably damaging |
Het |
| Nt5m |
T |
G |
11: 59,743,649 (GRCm39) |
D92E |
probably benign |
Het |
| Or10g6 |
T |
G |
9: 39,933,731 (GRCm39) |
L14R |
probably damaging |
Het |
| Or4k39 |
T |
C |
2: 111,239,033 (GRCm39) |
|
noncoding transcript |
Het |
| Or4p23 |
A |
T |
2: 88,577,094 (GRCm39) |
I46N |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,391,982 (GRCm39) |
I119N |
probably damaging |
Het |
| Pard6b |
A |
T |
2: 167,940,546 (GRCm39) |
S178C |
probably damaging |
Het |
| Parl |
A |
G |
16: 20,106,728 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
A |
G |
11: 94,919,851 (GRCm39) |
|
probably benign |
Het |
| Prag1 |
A |
G |
8: 36,613,967 (GRCm39) |
E1173G |
probably benign |
Het |
| Prph2 |
T |
A |
17: 47,234,391 (GRCm39) |
L320Q |
probably damaging |
Het |
| Psmd3 |
T |
C |
11: 98,584,495 (GRCm39) |
I200T |
probably damaging |
Het |
| Rhbdd3 |
T |
A |
11: 5,055,707 (GRCm39) |
S324T |
probably damaging |
Het |
| Rps6-ps2 |
A |
T |
8: 89,533,112 (GRCm39) |
|
noncoding transcript |
Het |
| Rps8 |
G |
C |
4: 117,012,352 (GRCm39) |
|
probably benign |
Het |
| Samd4 |
A |
G |
14: 47,254,022 (GRCm39) |
N61S |
probably benign |
Het |
| Sfrp2 |
G |
A |
3: 83,674,146 (GRCm39) |
A100T |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc6a13 |
A |
G |
6: 121,279,700 (GRCm39) |
T25A |
probably benign |
Het |
| Sntg1 |
C |
A |
1: 8,533,667 (GRCm39) |
R329L |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,228,669 (GRCm39) |
F285L |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,395,773 (GRCm39) |
|
probably null |
Het |
| Srgap1 |
T |
C |
10: 121,661,541 (GRCm39) |
Y533C |
probably damaging |
Het |
| Supt5 |
C |
A |
7: 28,017,188 (GRCm39) |
S668I |
probably benign |
Het |
| Taf6l |
T |
G |
19: 8,750,676 (GRCm39) |
I133L |
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,074,279 (GRCm39) |
|
probably benign |
Het |
| Tmem115 |
A |
G |
9: 107,412,054 (GRCm39) |
N126S |
probably benign |
Het |
| Trgc1 |
A |
T |
13: 19,400,729 (GRCm39) |
I153F |
unknown |
Het |
| Tspoap1 |
T |
A |
11: 87,667,952 (GRCm39) |
I1192N |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,826,253 (GRCm39) |
I3184V |
probably damaging |
Het |
| Yeats4 |
G |
A |
10: 117,051,585 (GRCm39) |
T224M |
probably benign |
Het |
| Zc3h13 |
A |
T |
14: 75,569,400 (GRCm39) |
R1416* |
probably null |
Het |
| Zmynd12 |
T |
A |
4: 119,299,098 (GRCm39) |
Y193N |
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 |
|
|
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'- ATGGAAGACTGACCACTGACCC -3'
(R):5'- ACCAGATGTTGACTCAGTGTG -3'
Sequencing Primer
(F):5'- TGCTGCAGTCAGTCCAGGAG -3'
(R):5'- TGACTCAGTGTGGGGCAGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation