Incidental Mutation 'R5688:Map4k2'
| ID |
443540 |
| 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 |
043321-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
R5688 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6391165-6405645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 6396836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 584
(P584H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025897]
[ENSMUST00000124556]
[ENSMUST00000142496]
[ENSMUST00000130382]
[ENSMUST00000152349]
|
| AlphaFold |
Q61161 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025897
AA Change: P584H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: P584H
| 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 |
noncoding transcript
Transcript: ENSMUST00000123468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124333
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000126841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127809
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128170
AA Change: P38H
|
| SMART Domains |
Protein: ENSMUSP00000121856
Gene: ENSMUSG00000024948
AA Change: P38H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CNH
|
2 |
142 |
3.4e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155569
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152912
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140098
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184812
|
| 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: 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: 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: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
G |
A |
7: 28,315,920 (GRCm39) |
A222V |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,979,883 (GRCm39) |
D389G |
probably benign |
Het |
| Aldh1l2 |
A |
T |
10: 83,337,789 (GRCm39) |
S559T |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,576,877 (GRCm39) |
N144K |
possibly damaging |
Het |
| Anp32b |
T |
A |
4: 46,469,868 (GRCm39) |
|
probably null |
Het |
| Atf7 |
C |
T |
15: 102,459,944 (GRCm39) |
R57H |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,092,000 (GRCm39) |
H345L |
probably benign |
Het |
| Cacna2d1 |
A |
T |
5: 16,563,950 (GRCm39) |
I859F |
probably damaging |
Het |
| Calcr |
T |
A |
6: 3,714,730 (GRCm39) |
|
probably null |
Het |
| Cd248 |
A |
G |
19: 5,119,963 (GRCm39) |
T604A |
probably benign |
Het |
| Cemip |
C |
T |
7: 83,610,849 (GRCm39) |
V702M |
probably damaging |
Het |
| Cep295 |
G |
T |
9: 15,243,282 (GRCm39) |
Q469K |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,748,427 (GRCm39) |
W485R |
probably damaging |
Het |
| Cpe |
T |
C |
8: 65,062,189 (GRCm39) |
N289S |
possibly damaging |
Het |
| Cyp2j11 |
G |
A |
4: 96,233,358 (GRCm39) |
R113C |
probably damaging |
Het |
| Dcp1b |
T |
C |
6: 119,194,872 (GRCm39) |
S531P |
probably benign |
Het |
| Defb7 |
T |
G |
8: 19,545,167 (GRCm39) |
L15R |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Ednrb |
T |
C |
14: 104,060,831 (GRCm39) |
D198G |
probably damaging |
Het |
| Engase |
A |
C |
11: 118,378,146 (GRCm39) |
E312A |
possibly damaging |
Het |
| Evl |
G |
A |
12: 108,639,612 (GRCm39) |
|
probably null |
Het |
| Faf1 |
C |
A |
4: 109,652,010 (GRCm39) |
Q234K |
probably damaging |
Het |
| Garre1 |
T |
A |
7: 33,953,416 (GRCm39) |
T449S |
possibly damaging |
Het |
| Garre1 |
T |
G |
7: 33,984,134 (GRCm39) |
D163A |
probably damaging |
Het |
| Gm5460 |
C |
A |
14: 33,767,752 (GRCm39) |
N453K |
possibly damaging |
Het |
| Gm7356 |
T |
A |
17: 14,220,869 (GRCm39) |
I387F |
possibly damaging |
Het |
| H1f2 |
A |
G |
13: 23,923,148 (GRCm39) |
K106R |
probably damaging |
Het |
| Hagh |
T |
C |
17: 25,069,568 (GRCm39) |
M1T |
probably null |
Het |
| Hars1 |
A |
T |
18: 36,905,369 (GRCm39) |
V155E |
probably damaging |
Het |
| Lca5 |
C |
A |
9: 83,280,619 (GRCm39) |
D394Y |
probably benign |
Het |
| Lmtk3 |
T |
C |
7: 45,440,834 (GRCm39) |
L280P |
probably damaging |
Het |
| Lrit1 |
C |
T |
14: 36,784,385 (GRCm39) |
A571V |
possibly damaging |
Het |
| Mgst1 |
T |
C |
6: 138,118,798 (GRCm39) |
|
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,009,590 (GRCm39) |
C936* |
probably null |
Het |
| Neb |
C |
T |
2: 52,086,339 (GRCm39) |
V5245I |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,896,867 (GRCm39) |
N918S |
probably benign |
Het |
| Or4c106 |
C |
T |
2: 88,683,023 (GRCm39) |
T243I |
probably benign |
Het |
| Or5d16 |
T |
A |
2: 87,773,552 (GRCm39) |
Q140L |
probably benign |
Het |
| Or8b8 |
A |
C |
9: 37,809,359 (GRCm39) |
I220L |
possibly damaging |
Het |
| Ovch2 |
A |
G |
7: 107,393,201 (GRCm39) |
L224P |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,409,047 (GRCm39) |
K34* |
probably null |
Het |
| Pcf11 |
T |
A |
7: 92,308,016 (GRCm39) |
R717S |
possibly damaging |
Het |
| Plcb1 |
A |
T |
2: 135,177,400 (GRCm39) |
E577D |
probably benign |
Het |
| Plxnb2 |
T |
C |
15: 89,042,899 (GRCm39) |
K1497E |
probably damaging |
Het |
| Pyroxd1 |
C |
A |
6: 142,299,266 (GRCm39) |
L141I |
probably damaging |
Het |
| Rhobtb3 |
G |
T |
13: 76,020,537 (GRCm39) |
N588K |
probably benign |
Het |
| Rnasel |
G |
A |
1: 153,629,452 (GRCm39) |
|
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Shank1 |
A |
T |
7: 44,003,911 (GRCm39) |
I1868F |
possibly damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,706,463 (GRCm39) |
S593T |
probably damaging |
Het |
| Slc29a4 |
T |
C |
5: 142,699,853 (GRCm39) |
I168T |
possibly damaging |
Het |
| Slc35f5 |
C |
T |
1: 125,518,775 (GRCm39) |
P502L |
probably benign |
Het |
| Slco6d1 |
T |
C |
1: 98,408,493 (GRCm39) |
I463T |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,608,451 (GRCm39) |
D468G |
probably benign |
Het |
| Spata31d1d |
G |
T |
13: 59,874,322 (GRCm39) |
P1071Q |
probably damaging |
Het |
| Tert |
G |
A |
13: 73,787,275 (GRCm39) |
V754I |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,759,155 (GRCm39) |
T235A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,564,472 (GRCm39) |
D28555G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,710,328 (GRCm39) |
|
probably null |
Het |
| Ubqln4 |
T |
C |
3: 88,472,575 (GRCm39) |
L464P |
probably damaging |
Het |
| Unc45b |
A |
T |
11: 82,813,643 (GRCm39) |
N350I |
possibly damaging |
Het |
| Vmn2r65 |
T |
C |
7: 84,589,900 (GRCm39) |
D672G |
probably benign |
Het |
| Zfp947 |
T |
A |
17: 22,365,066 (GRCm39) |
I203L |
probably benign |
Het |
| Zfp964 |
T |
A |
8: 70,116,766 (GRCm39) |
H454Q |
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 |
|
|
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'- AATGTGTTGCTGTCGCTCTCAG -3'
(R):5'- TTCAACAAGCCAGGTGGACAG -3'
Sequencing Primer
(F):5'- CTGTCGCTCTCAGGTAGGAG -3'
(R):5'- GGAGGGAAGGCCACCAACTAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation