Incidental Mutation 'R4304:Map4k4'
ID | 322522 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map4k4
|
Ensembl Gene |
ENSMUSG00000026074 |
Gene Name | mitogen-activated protein kinase kinase kinase kinase 4 |
Synonyms | 9430080K19Rik, Nik |
MMRRC Submission |
040865-MU
|
Accession Numbers | |
Is this an essential gene? |
Essential (E-score: 1.000)
|
Stock # | R4304 (G1)
|
Quality Score | 225 |
Status |
Not validated
|
Chromosome | 1 |
Chromosomal Location | 39900913-40026310 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to C
at 39973972 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 76
(Y76H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163854]
[ENSMUST00000168431]
[ENSMUST00000191761]
[ENSMUST00000192509]
[ENSMUST00000193682]
[ENSMUST00000195259]
[ENSMUST00000195636]
[ENSMUST00000195860]
|
Predicted Effect |
unknown
Transcript: ENSMUST00000163854
AA Change: Y76H
|
SMART Domains |
Protein: ENSMUSP00000126961 Gene: ENSMUSG00000026074 AA Change: Y76H
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
6.87e-95 |
SMART |
low complexity region
|
318 |
342 |
N/A |
INTRINSIC |
coiled coil region
|
357 |
494 |
N/A |
INTRINSIC |
low complexity region
|
503 |
512 |
N/A |
INTRINSIC |
low complexity region
|
687 |
698 |
N/A |
INTRINSIC |
low complexity region
|
721 |
747 |
N/A |
INTRINSIC |
low complexity region
|
754 |
763 |
N/A |
INTRINSIC |
low complexity region
|
811 |
837 |
N/A |
INTRINSIC |
low complexity region
|
891 |
904 |
N/A |
INTRINSIC |
low complexity region
|
919 |
929 |
N/A |
INTRINSIC |
CNH
|
970 |
1268 |
2.76e-127 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000129796 Gene: ENSMUSG00000026074 AA Change: Y76H
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
6.87e-95 |
SMART |
low complexity region
|
318 |
342 |
N/A |
INTRINSIC |
coiled coil region
|
357 |
494 |
N/A |
INTRINSIC |
low complexity region
|
503 |
512 |
N/A |
INTRINSIC |
low complexity region
|
633 |
644 |
N/A |
INTRINSIC |
low complexity region
|
667 |
693 |
N/A |
INTRINSIC |
low complexity region
|
700 |
709 |
N/A |
INTRINSIC |
low complexity region
|
757 |
783 |
N/A |
INTRINSIC |
low complexity region
|
837 |
850 |
N/A |
INTRINSIC |
low complexity region
|
865 |
875 |
N/A |
INTRINSIC |
CNH
|
916 |
1214 |
2.76e-127 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000191761
AA Change: Y76H
|
SMART Domains |
Protein: ENSMUSP00000141332 Gene: ENSMUSG00000026074 AA Change: Y76H
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
3.4e-97 |
SMART |
low complexity region
|
318 |
342 |
N/A |
INTRINSIC |
coiled coil region
|
357 |
404 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192509
AA Change: Y76H
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141665 Gene: ENSMUSG00000026074 AA Change: Y76H
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
6.87e-95 |
SMART |
low complexity region
|
318 |
342 |
N/A |
INTRINSIC |
coiled coil region
|
357 |
494 |
N/A |
INTRINSIC |
low complexity region
|
503 |
512 |
N/A |
INTRINSIC |
low complexity region
|
633 |
644 |
N/A |
INTRINSIC |
low complexity region
|
667 |
693 |
N/A |
INTRINSIC |
low complexity region
|
700 |
709 |
N/A |
INTRINSIC |
low complexity region
|
757 |
783 |
N/A |
INTRINSIC |
low complexity region
|
837 |
850 |
N/A |
INTRINSIC |
low complexity region
|
865 |
875 |
N/A |
INTRINSIC |
CNH
|
916 |
1214 |
2.76e-127 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193514
|
Predicted Effect |
unknown
Transcript: ENSMUST00000193682
AA Change: Y76H
|
SMART Domains |
Protein: ENSMUSP00000141862 Gene: ENSMUSG00000026074 AA Change: Y76H
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
6.87e-95 |
SMART |
low complexity region
|
318 |
342 |
N/A |
INTRINSIC |
coiled coil region
|
357 |
494 |
N/A |
INTRINSIC |
low complexity region
|
503 |
512 |
N/A |
INTRINSIC |
low complexity region
|
556 |
567 |
N/A |
INTRINSIC |
low complexity region
|
590 |
616 |
N/A |
INTRINSIC |
low complexity region
|
623 |
632 |
N/A |
INTRINSIC |
low complexity region
|
680 |
706 |
N/A |
INTRINSIC |
low complexity region
|
785 |
814 |
N/A |
INTRINSIC |
low complexity region
|
824 |
837 |
N/A |
INTRINSIC |
low complexity region
|
852 |
862 |
N/A |
INTRINSIC |
CNH
|
903 |
1201 |
2.76e-127 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194163
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195259
AA Change: Y76H
PolyPhen 2
Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000142056 Gene: ENSMUSG00000026074 AA Change: Y76H
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
6.87e-95 |
SMART |
low complexity region
|
318 |
342 |
N/A |
INTRINSIC |
coiled coil region
|
357 |
494 |
N/A |
INTRINSIC |
low complexity region
|
503 |
512 |
N/A |
INTRINSIC |
low complexity region
|
610 |
621 |
N/A |
INTRINSIC |
low complexity region
|
644 |
670 |
N/A |
INTRINSIC |
low complexity region
|
677 |
686 |
N/A |
INTRINSIC |
low complexity region
|
731 |
757 |
N/A |
INTRINSIC |
low complexity region
|
811 |
824 |
N/A |
INTRINSIC |
low complexity region
|
839 |
849 |
N/A |
INTRINSIC |
CNH
|
890 |
1188 |
2.76e-127 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195636
AA Change: Y76H
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000141613 Gene: ENSMUSG00000026074 AA Change: Y76H
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
3.4e-97 |
SMART |
low complexity region
|
318 |
342 |
N/A |
INTRINSIC |
coiled coil region
|
357 |
494 |
N/A |
INTRINSIC |
low complexity region
|
503 |
512 |
N/A |
INTRINSIC |
low complexity region
|
610 |
621 |
N/A |
INTRINSIC |
low complexity region
|
644 |
670 |
N/A |
INTRINSIC |
low complexity region
|
677 |
686 |
N/A |
INTRINSIC |
low complexity region
|
731 |
757 |
N/A |
INTRINSIC |
low complexity region
|
836 |
865 |
N/A |
INTRINSIC |
low complexity region
|
875 |
888 |
N/A |
INTRINSIC |
low complexity region
|
903 |
913 |
N/A |
INTRINSIC |
CNH
|
954 |
1252 |
1.4e-129 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000195860
AA Change: Y76H
|
SMART Domains |
Protein: ENSMUSP00000141400 Gene: ENSMUSG00000026074 AA Change: Y76H
Domain | Start | End | E-Value | Type |
S_TKc
|
25 |
289 |
6.87e-95 |
SMART |
low complexity region
|
318 |
342 |
N/A |
INTRINSIC |
coiled coil region
|
357 |
494 |
N/A |
INTRINSIC |
low complexity region
|
503 |
512 |
N/A |
INTRINSIC |
low complexity region
|
687 |
698 |
N/A |
INTRINSIC |
low complexity region
|
721 |
747 |
N/A |
INTRINSIC |
low complexity region
|
754 |
763 |
N/A |
INTRINSIC |
low complexity region
|
811 |
837 |
N/A |
INTRINSIC |
low complexity region
|
891 |
904 |
N/A |
INTRINSIC |
low complexity region
|
919 |
929 |
N/A |
INTRINSIC |
CNH
|
970 |
1268 |
2.76e-127 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
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. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos around day E9.5-10.5. [provided by MGI curators]
|
Allele List at MGI | |
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810474O19Rik |
C |
T |
6: 149,326,238 |
Q261* |
probably null |
Het |
Adam32 |
A |
T |
8: 24,901,529 |
M323K |
probably damaging |
Het |
Arhgap42 |
A |
G |
9: 9,006,488 |
S636P |
probably benign |
Het |
Arhgef5 |
C |
T |
6: 43,279,498 |
A1180V |
probably damaging |
Het |
Cep152 |
G |
A |
2: 125,563,723 |
Q1630* |
probably null |
Het |
Cfap157 |
G |
A |
2: 32,779,042 |
R350W |
probably damaging |
Het |
Csgalnact1 |
A |
T |
8: 68,372,642 |
V400D |
possibly damaging |
Het |
Fig4 |
T |
A |
10: 41,256,427 |
D461V |
probably benign |
Het |
Frmd4a |
C |
T |
2: 4,333,078 |
R32C |
probably benign |
Het |
Gcfc2 |
G |
A |
6: 81,943,007 |
R397Q |
probably damaging |
Het |
Gm20939 |
A |
C |
17: 94,877,281 |
Q452H |
probably benign |
Het |
Gm5592 |
A |
T |
7: 41,286,262 |
M63L |
probably benign |
Het |
Gm7173 |
C |
G |
X: 79,498,029 |
K469N |
probably damaging |
Het |
H2-M3 |
T |
C |
17: 37,272,404 |
M252T |
probably benign |
Het |
Lsm14a |
C |
A |
7: 34,357,433 |
|
probably null |
Het |
Npc1 |
C |
T |
18: 12,210,527 |
A470T |
possibly damaging |
Het |
Oit1 |
G |
A |
14: 8,349,324 |
P209S |
probably damaging |
Het |
Olfr1240 |
A |
T |
2: 89,440,198 |
V27D |
probably damaging |
Het |
Prr27 |
A |
G |
5: 87,842,907 |
H126R |
probably benign |
Het |
Rptn |
C |
A |
3: 93,396,931 |
H524N |
probably benign |
Het |
Slc4a11 |
A |
T |
2: 130,688,138 |
M240K |
probably benign |
Het |
Smg1 |
T |
C |
7: 118,139,518 |
I3503V |
probably benign |
Het |
Snx13 |
A |
G |
12: 35,122,942 |
K625E |
probably benign |
Het |
Stk10 |
T |
C |
11: 32,610,634 |
V663A |
probably damaging |
Het |
Tex11 |
C |
A |
X: 100,933,415 |
A487S |
possibly damaging |
Het |
Tpp1 |
T |
A |
7: 105,750,309 |
D84V |
possibly damaging |
Het |
Vmn1r238 |
T |
A |
18: 3,123,040 |
R125* |
probably null |
Het |
Vmn2r12 |
A |
G |
5: 109,086,006 |
L780P |
probably damaging |
Het |
Wfdc15b |
A |
C |
2: 164,215,468 |
M1R |
probably null |
Het |
Wnk2 |
C |
T |
13: 49,090,837 |
D508N |
probably damaging |
Het |
|
Other mutations in Map4k4 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCGTGGTCATATTCAGAAGG -3'
(R):5'- TCTTTGCTACAGTGCAGACAGG -3'
Sequencing Primer
(F):5'- TCAGAAGGCTGAGCTGTGG -3'
(R):5'- TAGGGAAGCTGCTGTCCC -3'
|
Posted On | 2015-06-20 |