Incidental Mutation 'IGL03101:Map4k3'
ID |
418746 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Map4k3
|
Ensembl Gene |
ENSMUSG00000024242 |
Gene Name |
mitogen-activated protein kinase kinase kinase kinase 3 |
Synonyms |
9530052P13Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03101
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
80887941-81035914 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 80963284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108008
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025089]
[ENSMUST00000112389]
|
AlphaFold |
Q99JP0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025089
|
SMART Domains |
Protein: ENSMUSP00000025089 Gene: ENSMUSG00000024242
Domain | Start | End | E-Value | Type |
S_TKc
|
16 |
273 |
9.71e-95 |
SMART |
low complexity region
|
299 |
304 |
N/A |
INTRINSIC |
low complexity region
|
413 |
421 |
N/A |
INTRINSIC |
low complexity region
|
428 |
440 |
N/A |
INTRINSIC |
low complexity region
|
467 |
491 |
N/A |
INTRINSIC |
CNH
|
561 |
874 |
2e-115 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000112389
|
SMART Domains |
Protein: ENSMUSP00000108008 Gene: ENSMUSG00000024242
Domain | Start | End | E-Value | Type |
S_TKc
|
16 |
273 |
9.71e-95 |
SMART |
low complexity region
|
299 |
304 |
N/A |
INTRINSIC |
low complexity region
|
413 |
421 |
N/A |
INTRINSIC |
low complexity region
|
428 |
440 |
N/A |
INTRINSIC |
low complexity region
|
467 |
491 |
N/A |
INTRINSIC |
CNH
|
561 |
876 |
1.39e-114 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased susceptibility to experimental autoimmune encephalomyelitis, decreased stimulated immunoglobin production, decreased stimulated T cell proliferation, and abnormal Th1, Th2, and Th17 differentiation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA474408 |
A |
T |
7: 109,660,177 (GRCm39) |
|
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,207,732 (GRCm39) |
V23D |
probably damaging |
Het |
Adam8 |
G |
T |
7: 139,568,456 (GRCm39) |
N260K |
possibly damaging |
Het |
Ap3b1 |
A |
T |
13: 94,591,906 (GRCm39) |
I457L |
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,867,421 (GRCm39) |
N808S |
possibly damaging |
Het |
Arhgef26 |
A |
G |
3: 62,327,082 (GRCm39) |
T532A |
possibly damaging |
Het |
Cfap65 |
G |
T |
1: 74,967,592 (GRCm39) |
T162N |
possibly damaging |
Het |
Clec12b |
A |
G |
6: 129,356,480 (GRCm39) |
|
probably null |
Het |
Creb3 |
T |
C |
4: 43,563,081 (GRCm39) |
V60A |
probably benign |
Het |
Cyp11b1 |
A |
G |
15: 74,707,703 (GRCm39) |
F469L |
probably benign |
Het |
Defb28 |
A |
T |
2: 152,362,047 (GRCm39) |
E69V |
possibly damaging |
Het |
Etnppl |
T |
C |
3: 130,415,967 (GRCm39) |
L118S |
probably damaging |
Het |
Fsip1 |
T |
C |
2: 118,072,144 (GRCm39) |
Y213C |
probably damaging |
Het |
Glb1l2 |
A |
G |
9: 26,676,421 (GRCm39) |
W480R |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,395,279 (GRCm39) |
M4205L |
probably benign |
Het |
Kif5a |
A |
T |
10: 127,071,478 (GRCm39) |
|
probably benign |
Het |
Lmbrd2 |
C |
T |
15: 9,186,695 (GRCm39) |
R557C |
probably damaging |
Het |
Npc1 |
A |
G |
18: 12,331,596 (GRCm39) |
I858T |
probably benign |
Het |
Or7e173 |
T |
C |
9: 19,938,725 (GRCm39) |
T170A |
probably benign |
Het |
Pecam1 |
A |
G |
11: 106,588,177 (GRCm39) |
V92A |
probably damaging |
Het |
Rbm43 |
A |
T |
2: 51,816,757 (GRCm39) |
I70N |
probably benign |
Het |
Rps6kb1 |
T |
C |
11: 86,393,708 (GRCm39) |
Y474C |
probably benign |
Het |
Slco2a1 |
G |
A |
9: 102,954,205 (GRCm39) |
G459R |
possibly damaging |
Het |
Snca |
T |
A |
6: 60,804,595 (GRCm39) |
|
probably benign |
Het |
Spata31f1e |
T |
C |
4: 42,793,424 (GRCm39) |
D236G |
possibly damaging |
Het |
Stap2 |
T |
A |
17: 56,309,029 (GRCm39) |
I113F |
probably damaging |
Het |
Tas2r140 |
T |
C |
6: 40,468,764 (GRCm39) |
M198T |
probably benign |
Het |
Trim9 |
T |
C |
12: 70,393,428 (GRCm39) |
E172G |
probably damaging |
Het |
Ttll7 |
T |
C |
3: 146,602,445 (GRCm39) |
V81A |
possibly damaging |
Het |
Vmn2r103 |
A |
G |
17: 19,993,782 (GRCm39) |
Y53C |
probably damaging |
Het |
Vmn2r22 |
C |
A |
6: 123,614,295 (GRCm39) |
A432S |
probably benign |
Het |
Zfp943 |
T |
C |
17: 22,211,156 (GRCm39) |
S81P |
probably damaging |
Het |
|
Other mutations in Map4k3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01147:Map4k3
|
APN |
17 |
80,944,147 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01329:Map4k3
|
APN |
17 |
80,951,613 (GRCm39) |
missense |
probably benign |
|
IGL01626:Map4k3
|
APN |
17 |
80,913,238 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01896:Map4k3
|
APN |
17 |
80,921,360 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02021:Map4k3
|
APN |
17 |
80,917,255 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02585:Map4k3
|
APN |
17 |
80,961,348 (GRCm39) |
splice site |
probably benign |
|
IGL03231:Map4k3
|
APN |
17 |
80,905,104 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03267:Map4k3
|
APN |
17 |
80,971,457 (GRCm39) |
missense |
probably damaging |
1.00 |
homelander
|
UTSW |
17 |
80,909,622 (GRCm39) |
missense |
probably damaging |
1.00 |
maple_forest
|
UTSW |
17 |
80,911,427 (GRCm39) |
missense |
probably benign |
0.38 |
stormfront
|
UTSW |
17 |
80,944,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R0084:Map4k3
|
UTSW |
17 |
80,963,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0211:Map4k3
|
UTSW |
17 |
80,952,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R0211:Map4k3
|
UTSW |
17 |
80,952,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R0612:Map4k3
|
UTSW |
17 |
80,909,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R0842:Map4k3
|
UTSW |
17 |
80,913,412 (GRCm39) |
missense |
probably benign |
0.35 |
R2009:Map4k3
|
UTSW |
17 |
80,971,517 (GRCm39) |
splice site |
probably benign |
|
R2224:Map4k3
|
UTSW |
17 |
80,937,883 (GRCm39) |
missense |
probably benign |
0.00 |
R3851:Map4k3
|
UTSW |
17 |
80,951,752 (GRCm39) |
splice site |
probably benign |
|
R4049:Map4k3
|
UTSW |
17 |
80,913,394 (GRCm39) |
missense |
probably benign |
0.10 |
R4151:Map4k3
|
UTSW |
17 |
80,951,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R4345:Map4k3
|
UTSW |
17 |
80,904,980 (GRCm39) |
critical splice donor site |
probably null |
|
R4405:Map4k3
|
UTSW |
17 |
80,922,444 (GRCm39) |
critical splice donor site |
probably null |
|
R4450:Map4k3
|
UTSW |
17 |
80,911,411 (GRCm39) |
critical splice donor site |
probably null |
|
R4970:Map4k3
|
UTSW |
17 |
80,961,332 (GRCm39) |
missense |
probably benign |
0.00 |
R5230:Map4k3
|
UTSW |
17 |
80,922,599 (GRCm39) |
missense |
probably benign |
0.00 |
R5459:Map4k3
|
UTSW |
17 |
80,917,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R5568:Map4k3
|
UTSW |
17 |
80,971,427 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5635:Map4k3
|
UTSW |
17 |
80,920,924 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5827:Map4k3
|
UTSW |
17 |
80,900,712 (GRCm39) |
critical splice donor site |
probably null |
|
R5927:Map4k3
|
UTSW |
17 |
80,921,348 (GRCm39) |
missense |
probably benign |
0.06 |
R5951:Map4k3
|
UTSW |
17 |
80,911,427 (GRCm39) |
missense |
probably benign |
0.38 |
R5964:Map4k3
|
UTSW |
17 |
80,952,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R6849:Map4k3
|
UTSW |
17 |
80,937,842 (GRCm39) |
critical splice donor site |
probably null |
|
R6985:Map4k3
|
UTSW |
17 |
80,944,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R7040:Map4k3
|
UTSW |
17 |
80,988,344 (GRCm39) |
missense |
probably damaging |
0.98 |
R7233:Map4k3
|
UTSW |
17 |
80,905,077 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7511:Map4k3
|
UTSW |
17 |
80,905,077 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7672:Map4k3
|
UTSW |
17 |
80,922,500 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7680:Map4k3
|
UTSW |
17 |
80,889,305 (GRCm39) |
missense |
probably benign |
0.02 |
R7804:Map4k3
|
UTSW |
17 |
80,922,499 (GRCm39) |
missense |
probably damaging |
0.98 |
R8170:Map4k3
|
UTSW |
17 |
80,913,289 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8397:Map4k3
|
UTSW |
17 |
80,971,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R8745:Map4k3
|
UTSW |
17 |
80,944,164 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9106:Map4k3
|
UTSW |
17 |
81,035,257 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9622:Map4k3
|
UTSW |
17 |
80,958,538 (GRCm39) |
missense |
probably damaging |
0.99 |
R9658:Map4k3
|
UTSW |
17 |
80,961,306 (GRCm39) |
missense |
probably benign |
0.01 |
X0023:Map4k3
|
UTSW |
17 |
80,900,520 (GRCm39) |
missense |
probably benign |
|
Z1176:Map4k3
|
UTSW |
17 |
80,925,766 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Posted On |
2016-08-02 |