Incidental Mutation 'R7589:Map4k4'
ID |
587289 |
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 |
045637-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7589 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
39940073-40065470 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 40060251 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 1013
(Y1013*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141862
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163854]
[ENSMUST00000168431]
[ENSMUST00000192509]
[ENSMUST00000193682]
[ENSMUST00000195259]
[ENSMUST00000195636]
[ENSMUST00000195860]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000163854
AA Change: Y1080*
|
SMART Domains |
Protein: ENSMUSP00000126961 Gene: ENSMUSG00000026074 AA Change: Y1080*
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
AA Change: Y1030*
|
SMART Domains |
Protein: ENSMUSP00000129796 Gene: ENSMUSG00000026074 AA Change: Y1030*
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: ENSMUST00000192509
AA Change: Y1026*
|
SMART Domains |
Protein: ENSMUSP00000141665 Gene: ENSMUSG00000026074 AA Change: Y1026*
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: ENSMUST00000193682
AA Change: Y1013*
|
SMART Domains |
Protein: ENSMUSP00000141862 Gene: ENSMUSG00000026074 AA Change: Y1013*
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
AA Change: Y1000*
|
SMART Domains |
Protein: ENSMUSP00000142056 Gene: ENSMUSG00000026074 AA Change: Y1000*
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
AA Change: Y1064*
|
SMART Domains |
Protein: ENSMUSP00000141613 Gene: ENSMUSG00000026074 AA Change: Y1064*
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
AA Change: Y1080*
|
SMART Domains |
Protein: ENSMUSP00000141400 Gene: ENSMUSG00000026074 AA Change: Y1080*
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
G |
7: 41,276,396 (GRCm39) |
C700G |
probably damaging |
Het |
4930486L24Rik |
T |
C |
13: 60,990,747 (GRCm39) |
K316E |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,188,846 (GRCm39) |
K2087* |
probably null |
Het |
Alpk2 |
A |
T |
18: 65,433,144 (GRCm39) |
H1320Q |
probably damaging |
Het |
Aox1 |
A |
T |
1: 58,080,643 (GRCm39) |
R31W |
probably damaging |
Het |
Asnsd1 |
G |
T |
1: 53,387,126 (GRCm39) |
A167E |
probably benign |
Het |
Atg14 |
T |
C |
14: 47,780,547 (GRCm39) |
D409G |
probably benign |
Het |
Atp13a3 |
T |
A |
16: 30,163,433 (GRCm39) |
E574D |
probably benign |
Het |
Bicd1 |
A |
T |
6: 149,415,165 (GRCm39) |
Y626F |
possibly damaging |
Het |
Cdc5l |
C |
T |
17: 45,721,707 (GRCm39) |
R521Q |
probably benign |
Het |
Dglucy |
T |
C |
12: 100,807,660 (GRCm39) |
F160L |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fmo9 |
T |
A |
1: 166,501,997 (GRCm39) |
K209N |
possibly damaging |
Het |
Gsdmc2 |
C |
A |
15: 63,696,892 (GRCm39) |
L426F |
probably damaging |
Het |
Hip1 |
T |
C |
5: 135,443,165 (GRCm39) |
D956G |
probably benign |
Het |
Kif28 |
C |
T |
1: 179,558,965 (GRCm39) |
V248I |
probably benign |
Het |
Klk10 |
T |
C |
7: 43,433,051 (GRCm39) |
V149A |
probably benign |
Het |
Krt40 |
G |
T |
11: 99,430,983 (GRCm39) |
N255K |
probably damaging |
Het |
Mcur1 |
T |
C |
13: 43,705,101 (GRCm39) |
Y185C |
probably damaging |
Het |
Mzt1 |
T |
C |
14: 99,273,948 (GRCm39) |
|
probably null |
Het |
Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
Nkx1-2 |
T |
C |
7: 132,201,204 (GRCm39) |
I18V |
probably damaging |
Het |
Ofcc1 |
T |
A |
13: 40,408,960 (GRCm39) |
Q155L |
probably benign |
Het |
Or1ad1 |
A |
T |
11: 50,875,857 (GRCm39) |
M110L |
probably damaging |
Het |
Or4a2 |
A |
G |
2: 89,248,724 (GRCm39) |
V11A |
possibly damaging |
Het |
Or4k38 |
T |
C |
2: 111,165,719 (GRCm39) |
K235E |
probably damaging |
Het |
Or51q1 |
T |
C |
7: 103,628,998 (GRCm39) |
Y200H |
probably damaging |
Het |
Or9s15 |
G |
A |
1: 92,524,781 (GRCm39) |
R180H |
probably benign |
Het |
Prnp |
A |
G |
2: 131,778,786 (GRCm39) |
D146G |
probably benign |
Het |
Rhbdf1 |
C |
T |
11: 32,162,903 (GRCm39) |
V455I |
probably benign |
Het |
Rnf6 |
G |
A |
5: 146,148,239 (GRCm39) |
R260W |
possibly damaging |
Het |
Rtl1 |
T |
C |
12: 109,560,279 (GRCm39) |
N520S |
possibly damaging |
Het |
Setbp1 |
A |
T |
18: 78,899,707 (GRCm39) |
M1320K |
probably benign |
Het |
Slc39a8 |
A |
G |
3: 135,590,123 (GRCm39) |
T338A |
probably damaging |
Het |
Tcf4 |
A |
G |
18: 69,815,890 (GRCm39) |
*693W |
probably null |
Het |
Ttc8 |
A |
T |
12: 98,942,696 (GRCm39) |
D412V |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,275,046 (GRCm39) |
A1840S |
probably benign |
Het |
Vmn1r60 |
A |
T |
7: 5,547,688 (GRCm39) |
S137R |
|
Het |
Vmn1r91 |
T |
A |
7: 19,835,802 (GRCm39) |
H240Q |
probably benign |
Het |
Vmn2r107 |
A |
T |
17: 20,595,634 (GRCm39) |
H729L |
probably benign |
Het |
Yme1l1 |
C |
T |
2: 23,050,274 (GRCm39) |
T35I |
probably benign |
Het |
Zfp292 |
A |
G |
4: 34,806,777 (GRCm39) |
V2094A |
probably damaging |
Het |
Zfp934 |
A |
T |
13: 62,666,130 (GRCm39) |
N202K |
|
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 |
|
R3688:Map4k4
|
UTSW |
1 |
40,024,331 (GRCm39) |
splice 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 |
|
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'- CGGCTAAACTATTAGGTCTTAGTTG -3'
(R):5'- CAGCTTTGTCAGGTTAACGC -3'
Sequencing Primer
(F):5'- CTGAATTACACACTGAAGAGTTGG -3'
(R):5'- CAGCTTTGTCAGGTTAACGCATAGC -3'
|
Posted On |
2019-10-24 |