Incidental Mutation 'R3688:Map4k4'
ID |
269599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map4k4
|
Ensembl Gene |
ENSMUSG00000026074 |
Gene Name |
mitogen-activated protein kinase kinase kinase kinase 4 |
Synonyms |
9430080K19Rik, Nik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3688 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
39940073-40065470 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 40024331 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141400
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163854]
[ENSMUST00000168431]
[ENSMUST00000191761]
[ENSMUST00000192509]
[ENSMUST00000193682]
[ENSMUST00000195259]
[ENSMUST00000195636]
[ENSMUST00000195860]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000163854
|
SMART Domains |
Protein: ENSMUSP00000126961 Gene: ENSMUSG00000026074
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 |
probably null
Transcript: ENSMUST00000168431
|
SMART Domains |
Protein: ENSMUSP00000129796 Gene: ENSMUSG00000026074
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 |
probably null
Transcript: ENSMUST00000191761
|
SMART Domains |
Protein: ENSMUSP00000141332 Gene: ENSMUSG00000026074
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 |
probably null
Transcript: ENSMUST00000192509
|
SMART Domains |
Protein: ENSMUSP00000141665 Gene: ENSMUSG00000026074
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 |
probably null
Transcript: ENSMUST00000193682
|
SMART Domains |
Protein: ENSMUSP00000141862 Gene: ENSMUSG00000026074
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 |
probably null
Transcript: ENSMUST00000195259
|
SMART Domains |
Protein: ENSMUSP00000142056 Gene: ENSMUSG00000026074
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 |
probably null
Transcript: ENSMUST00000195636
|
SMART Domains |
Protein: ENSMUSP00000141613 Gene: ENSMUSG00000026074
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 |
probably null
Transcript: ENSMUST00000195860
|
SMART Domains |
Protein: ENSMUSP00000141400 Gene: ENSMUSG00000026074
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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,415,968 (GRCm39) |
I687T |
possibly damaging |
Het |
A1cf |
T |
A |
19: 31,888,569 (GRCm39) |
F100I |
probably damaging |
Het |
Adam12 |
A |
T |
7: 133,566,525 (GRCm39) |
Y308* |
probably null |
Het |
Adam3 |
T |
C |
8: 25,193,864 (GRCm39) |
T383A |
probably benign |
Het |
Adcy8 |
T |
C |
15: 64,743,556 (GRCm39) |
T351A |
probably damaging |
Het |
Atp11c |
T |
C |
X: 59,327,004 (GRCm39) |
Y431C |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,494,246 (GRCm39) |
H956R |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,965,024 (GRCm39) |
R1275L |
probably benign |
Het |
Cept1 |
G |
T |
3: 106,427,331 (GRCm39) |
N236K |
probably benign |
Het |
Col15a1 |
C |
T |
4: 47,258,689 (GRCm39) |
T360I |
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,755,479 (GRCm39) |
Q1323* |
probably null |
Het |
Efl1 |
T |
A |
7: 82,412,178 (GRCm39) |
S856T |
probably benign |
Het |
Eftud2 |
T |
C |
11: 102,735,027 (GRCm39) |
E624G |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,171,927 (GRCm39) |
T2929A |
probably damaging |
Het |
Gm4884 |
A |
G |
7: 40,692,910 (GRCm39) |
H293R |
possibly damaging |
Het |
Hdac10 |
C |
T |
15: 89,007,767 (GRCm39) |
|
probably null |
Het |
Il17rd |
C |
A |
14: 26,761,105 (GRCm39) |
N15K |
probably null |
Het |
Kcnt1 |
C |
T |
2: 25,784,371 (GRCm39) |
T258I |
probably damaging |
Het |
Kif5a |
T |
G |
10: 127,078,643 (GRCm39) |
N334T |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,693,044 (GRCm39) |
Q164R |
probably damaging |
Het |
Naa80 |
T |
C |
9: 107,460,549 (GRCm39) |
V148A |
possibly damaging |
Het |
Or9a2 |
G |
T |
6: 41,749,160 (GRCm39) |
Y24* |
probably null |
Het |
Pard3b |
A |
G |
1: 62,518,728 (GRCm39) |
T938A |
probably benign |
Het |
Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
Pfkm |
T |
A |
15: 98,029,398 (GRCm39) |
N697K |
probably benign |
Het |
Prr23a4 |
A |
T |
9: 98,785,517 (GRCm39) |
M61L |
probably benign |
Het |
Pus10 |
T |
C |
11: 23,617,334 (GRCm39) |
F16L |
probably benign |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rangap1 |
A |
T |
15: 81,602,963 (GRCm39) |
M154K |
possibly damaging |
Het |
Slc25a17 |
A |
G |
15: 81,211,485 (GRCm39) |
F177S |
probably benign |
Het |
Slc34a2 |
G |
A |
5: 53,222,174 (GRCm39) |
G289S |
probably benign |
Het |
Strn4 |
A |
G |
7: 16,556,506 (GRCm39) |
Y123C |
probably damaging |
Het |
Swt1 |
A |
T |
1: 151,267,240 (GRCm39) |
M647K |
probably damaging |
Het |
Trpm5 |
A |
G |
7: 142,632,193 (GRCm39) |
V872A |
probably damaging |
Het |
Ubqln4 |
T |
C |
3: 88,470,466 (GRCm39) |
S313P |
probably damaging |
Het |
Vmn1r17 |
T |
A |
6: 57,337,544 (GRCm39) |
T225S |
probably damaging |
Het |
Vmn2r75 |
T |
A |
7: 85,797,629 (GRCm39) |
H728L |
probably damaging |
Het |
Vps33a |
T |
C |
5: 123,673,274 (GRCm39) |
|
probably null |
Het |
Vwde |
T |
A |
6: 13,186,891 (GRCm39) |
R865S |
probably damaging |
Het |
Zfp408 |
T |
A |
2: 91,476,777 (GRCm39) |
M126L |
probably benign |
Het |
|
Other mutations in Map4k4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00328:Map4k4
|
APN |
1 |
40,043,976 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00417:Map4k4
|
APN |
1 |
40,053,692 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL00516:Map4k4
|
APN |
1 |
40,053,762 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01545:Map4k4
|
APN |
1 |
40,053,389 (GRCm39) |
splice site |
probably benign |
|
IGL02092:Map4k4
|
APN |
1 |
40,063,508 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02092:Map4k4
|
APN |
1 |
40,025,943 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02570:Map4k4
|
APN |
1 |
40,019,739 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02626:Map4k4
|
APN |
1 |
40,053,257 (GRCm39) |
splice site |
probably benign |
|
IGL02993:Map4k4
|
APN |
1 |
40,053,348 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03178:Map4k4
|
APN |
1 |
40,025,853 (GRCm39) |
missense |
possibly damaging |
0.63 |
tank
|
UTSW |
1 |
40,044,024 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02835:Map4k4
|
UTSW |
1 |
40,049,760 (GRCm39) |
missense |
probably damaging |
0.99 |
R0496:Map4k4
|
UTSW |
1 |
40,045,982 (GRCm39) |
missense |
probably damaging |
0.99 |
R0498:Map4k4
|
UTSW |
1 |
40,029,338 (GRCm39) |
missense |
probably benign |
0.22 |
R0588:Map4k4
|
UTSW |
1 |
40,044,024 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0674:Map4k4
|
UTSW |
1 |
40,042,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R1205:Map4k4
|
UTSW |
1 |
40,043,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R1349:Map4k4
|
UTSW |
1 |
40,060,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R1615:Map4k4
|
UTSW |
1 |
40,045,990 (GRCm39) |
splice site |
probably benign |
|
R1763:Map4k4
|
UTSW |
1 |
40,039,917 (GRCm39) |
splice site |
probably benign |
|
R1800:Map4k4
|
UTSW |
1 |
40,062,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R1893:Map4k4
|
UTSW |
1 |
40,040,717 (GRCm39) |
missense |
probably benign |
0.08 |
R2411:Map4k4
|
UTSW |
1 |
40,046,656 (GRCm39) |
missense |
probably damaging |
0.96 |
R2851:Map4k4
|
UTSW |
1 |
40,039,915 (GRCm39) |
splice site |
probably benign |
|
R2852:Map4k4
|
UTSW |
1 |
40,039,915 (GRCm39) |
splice site |
probably benign |
|
R2987:Map4k4
|
UTSW |
1 |
40,025,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R3087:Map4k4
|
UTSW |
1 |
40,060,242 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4075:Map4k4
|
UTSW |
1 |
40,062,622 (GRCm39) |
missense |
probably damaging |
0.96 |
R4304:Map4k4
|
UTSW |
1 |
40,013,132 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4564:Map4k4
|
UTSW |
1 |
40,028,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R4569:Map4k4
|
UTSW |
1 |
40,039,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R4613:Map4k4
|
UTSW |
1 |
40,056,351 (GRCm39) |
missense |
probably benign |
0.05 |
R4715:Map4k4
|
UTSW |
1 |
40,058,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R4788:Map4k4
|
UTSW |
1 |
40,043,076 (GRCm39) |
missense |
probably benign |
0.01 |
R4926:Map4k4
|
UTSW |
1 |
40,056,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R4943:Map4k4
|
UTSW |
1 |
40,058,754 (GRCm39) |
missense |
probably damaging |
0.99 |
R5033:Map4k4
|
UTSW |
1 |
40,046,662 (GRCm39) |
missense |
probably damaging |
0.99 |
R5177:Map4k4
|
UTSW |
1 |
40,025,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R5297:Map4k4
|
UTSW |
1 |
40,001,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R5844:Map4k4
|
UTSW |
1 |
40,039,036 (GRCm39) |
splice site |
probably benign |
|
R5952:Map4k4
|
UTSW |
1 |
40,039,082 (GRCm39) |
unclassified |
probably benign |
|
R6111:Map4k4
|
UTSW |
1 |
40,050,822 (GRCm39) |
missense |
probably benign |
0.00 |
R6125:Map4k4
|
UTSW |
1 |
40,043,125 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6838:Map4k4
|
UTSW |
1 |
40,015,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R6927:Map4k4
|
UTSW |
1 |
40,050,842 (GRCm39) |
missense |
probably benign |
0.00 |
R7008:Map4k4
|
UTSW |
1 |
40,028,131 (GRCm39) |
missense |
probably benign |
0.44 |
R7164:Map4k4
|
UTSW |
1 |
40,013,132 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7195:Map4k4
|
UTSW |
1 |
40,058,829 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7352:Map4k4
|
UTSW |
1 |
40,001,387 (GRCm39) |
missense |
unknown |
|
R7589:Map4k4
|
UTSW |
1 |
40,060,251 (GRCm39) |
nonsense |
probably null |
|
R7816:Map4k4
|
UTSW |
1 |
40,053,368 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7869:Map4k4
|
UTSW |
1 |
40,013,204 (GRCm39) |
missense |
unknown |
|
R8013:Map4k4
|
UTSW |
1 |
40,001,372 (GRCm39) |
missense |
unknown |
|
R8145:Map4k4
|
UTSW |
1 |
40,039,694 (GRCm39) |
missense |
|
|
R8154:Map4k4
|
UTSW |
1 |
40,060,302 (GRCm39) |
nonsense |
probably null |
|
R8254:Map4k4
|
UTSW |
1 |
40,045,835 (GRCm39) |
missense |
probably damaging |
0.99 |
R8266:Map4k4
|
UTSW |
1 |
40,050,813 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8375:Map4k4
|
UTSW |
1 |
40,063,801 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8487:Map4k4
|
UTSW |
1 |
40,028,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R8699:Map4k4
|
UTSW |
1 |
40,015,910 (GRCm39) |
missense |
unknown |
|
R8726:Map4k4
|
UTSW |
1 |
40,043,142 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8907:Map4k4
|
UTSW |
1 |
40,058,770 (GRCm39) |
missense |
probably damaging |
0.97 |
R8956:Map4k4
|
UTSW |
1 |
40,039,840 (GRCm39) |
missense |
probably benign |
0.11 |
R8963:Map4k4
|
UTSW |
1 |
40,039,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R9091:Map4k4
|
UTSW |
1 |
40,042,923 (GRCm39) |
missense |
probably benign |
0.02 |
R9234:Map4k4
|
UTSW |
1 |
40,029,261 (GRCm39) |
missense |
unknown |
|
R9270:Map4k4
|
UTSW |
1 |
40,042,923 (GRCm39) |
missense |
probably benign |
0.02 |
R9438:Map4k4
|
UTSW |
1 |
40,045,952 (GRCm39) |
missense |
probably damaging |
0.99 |
R9689:Map4k4
|
UTSW |
1 |
40,058,722 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9771:Map4k4
|
UTSW |
1 |
40,025,877 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTTATAAACACGGCCGTTTTC -3'
(R):5'- GTAGTACCGAAGTTAGGGTGGC -3'
Sequencing Primer
(F):5'- ACTTTGCAGTGTCAATTTGAAGTTG -3'
(R):5'- GGTGGCCAGAATTTTATTCCTGAAC -3'
|
Posted On |
2015-02-19 |