Incidental Mutation 'IGL00516:Map4k4'
ID |
7498 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL00516
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
39940073-40065470 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 40053762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 953
(V953E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141400
(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 damaging
Transcript: ENSMUST00000163854
AA Change: V953E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126961 Gene: ENSMUSG00000026074 AA Change: V953E
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 |
unknown
Transcript: ENSMUST00000168431
AA Change: V903E
|
SMART Domains |
Protein: ENSMUSP00000129796 Gene: ENSMUSG00000026074 AA Change: V903E
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 benign
Transcript: ENSMUST00000191865
|
Predicted Effect |
unknown
Transcript: ENSMUST00000192509
AA Change: V899E
|
SMART Domains |
Protein: ENSMUSP00000141665 Gene: ENSMUSG00000026074 AA Change: V899E
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: ENSMUST00000192884
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193682
AA Change: V886E
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141862 Gene: ENSMUSG00000026074 AA Change: V886E
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 |
unknown
Transcript: ENSMUST00000195259
AA Change: V873E
|
SMART Domains |
Protein: ENSMUSP00000142056 Gene: ENSMUSG00000026074 AA Change: V873E
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 |
unknown
Transcript: ENSMUST00000195636
AA Change: V937E
|
SMART Domains |
Protein: ENSMUSP00000141613 Gene: ENSMUSG00000026074 AA Change: V937E
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 damaging
Transcript: ENSMUST00000195860
AA Change: V953E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141400 Gene: ENSMUSG00000026074 AA Change: V953E
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 |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
T |
C |
11: 80,267,638 (GRCm39) |
D91G |
possibly damaging |
Het |
Abcc1 |
T |
A |
16: 14,231,176 (GRCm39) |
L438* |
probably null |
Het |
Asph |
A |
T |
4: 9,639,322 (GRCm39) |
N14K |
probably damaging |
Het |
Baz1b |
T |
C |
5: 135,245,444 (GRCm39) |
Y298H |
probably damaging |
Het |
Ccdc66 |
A |
T |
14: 27,220,413 (GRCm39) |
W267R |
probably damaging |
Het |
Cd81 |
A |
C |
7: 142,620,901 (GRCm39) |
K193N |
probably damaging |
Het |
Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
Cflar |
T |
C |
1: 58,771,469 (GRCm39) |
I199T |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,234,675 (GRCm39) |
S138P |
possibly damaging |
Het |
Cnot1 |
T |
C |
8: 96,452,707 (GRCm39) |
N2123S |
probably damaging |
Het |
Crybg3 |
A |
G |
16: 59,350,803 (GRCm39) |
S846P |
probably benign |
Het |
Cyp2d9 |
A |
G |
15: 82,339,295 (GRCm39) |
I21M |
probably benign |
Het |
Ddx41 |
T |
C |
13: 55,680,280 (GRCm39) |
T371A |
probably damaging |
Het |
Dnhd1 |
A |
T |
7: 105,306,418 (GRCm39) |
I425F |
possibly damaging |
Het |
Dsc1 |
T |
C |
18: 20,234,943 (GRCm39) |
D237G |
probably damaging |
Het |
Emc1 |
T |
C |
4: 139,082,393 (GRCm39) |
|
probably benign |
Het |
Epc1 |
T |
A |
18: 6,450,515 (GRCm39) |
D367V |
probably damaging |
Het |
Glp1r |
A |
G |
17: 31,144,532 (GRCm39) |
Y235C |
probably damaging |
Het |
Helb |
A |
G |
10: 119,941,329 (GRCm39) |
V453A |
probably damaging |
Het |
Hras |
A |
G |
7: 140,772,783 (GRCm39) |
I24T |
possibly damaging |
Het |
Hsf2 |
A |
T |
10: 57,388,124 (GRCm39) |
I423L |
probably benign |
Het |
Igkv2-109 |
T |
A |
6: 68,280,054 (GRCm39) |
S92T |
probably benign |
Het |
Kiss1r |
G |
A |
10: 79,754,550 (GRCm39) |
A15T |
possibly damaging |
Het |
Krt79 |
T |
C |
15: 101,848,601 (GRCm39) |
S17G |
probably damaging |
Het |
Lrrc14b |
T |
C |
13: 74,509,078 (GRCm39) |
D443G |
probably damaging |
Het |
Mybpc2 |
G |
A |
7: 44,154,829 (GRCm39) |
|
probably benign |
Het |
Nadsyn1 |
T |
C |
7: 143,366,530 (GRCm39) |
E173G |
probably damaging |
Het |
Neurl4 |
C |
T |
11: 69,801,219 (GRCm39) |
R1199W |
probably damaging |
Het |
Otog |
T |
A |
7: 45,900,706 (GRCm39) |
V333E |
probably damaging |
Het |
Pdcd2l |
A |
T |
7: 33,884,246 (GRCm39) |
|
probably null |
Het |
Plagl1 |
A |
G |
10: 13,003,616 (GRCm39) |
|
probably benign |
Het |
Rbm34 |
T |
C |
8: 127,696,736 (GRCm39) |
N122S |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,964,512 (GRCm39) |
K917E |
possibly damaging |
Het |
Slc17a8 |
T |
C |
10: 89,427,157 (GRCm39) |
K315E |
possibly damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Sytl2 |
A |
G |
7: 90,022,113 (GRCm39) |
T183A |
probably benign |
Het |
Tnik |
T |
A |
3: 28,708,367 (GRCm39) |
I1067N |
probably damaging |
Het |
Tpd52l2 |
A |
G |
2: 181,154,861 (GRCm39) |
D192G |
probably damaging |
Het |
Trhde |
A |
T |
10: 114,282,104 (GRCm39) |
I791N |
probably benign |
Het |
Ttc28 |
A |
T |
5: 111,373,554 (GRCm39) |
N966Y |
probably damaging |
Het |
Vps13b |
A |
T |
15: 35,640,703 (GRCm39) |
D1356V |
probably damaging |
Het |
Zmym2 |
A |
G |
14: 57,185,394 (GRCm39) |
|
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 |
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 |
|
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 |
|
|
Posted On |
2012-04-20 |