Incidental Mutation 'IGL01147:Map4k3'
ID |
53131 |
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 # |
IGL01147
|
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 T
at 80944147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108008
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025089]
[ENSMUST00000025089]
[ENSMUST00000112389]
[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: 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 |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
G |
11: 94,234,611 (GRCm39) |
|
probably benign |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Cdh1 |
C |
A |
8: 107,387,516 (GRCm39) |
T472K |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cfap57 |
A |
T |
4: 118,446,198 (GRCm39) |
V688E |
probably damaging |
Het |
Cfp |
G |
A |
X: 20,794,981 (GRCm39) |
R155C |
probably damaging |
Het |
Chst7 |
T |
C |
X: 19,926,991 (GRCm39) |
I346T |
probably damaging |
Het |
Crybg2 |
G |
A |
4: 133,816,575 (GRCm39) |
|
probably null |
Het |
Ctsc |
T |
A |
7: 87,951,479 (GRCm39) |
V242D |
possibly damaging |
Het |
Cyp27b1 |
C |
T |
10: 126,886,255 (GRCm39) |
T312I |
possibly damaging |
Het |
D6Wsu163e |
A |
G |
6: 126,921,815 (GRCm39) |
D80G |
possibly damaging |
Het |
Enpp3 |
G |
T |
10: 24,650,805 (GRCm39) |
T777K |
probably damaging |
Het |
H2-M1 |
T |
A |
17: 36,982,199 (GRCm39) |
H134L |
possibly damaging |
Het |
Heatr1 |
T |
C |
13: 12,452,793 (GRCm39) |
S2105P |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,806,697 (GRCm39) |
S2388P |
probably benign |
Het |
Igkv6-23 |
A |
G |
6: 70,237,922 (GRCm39) |
|
probably benign |
Het |
Il1rapl2 |
C |
T |
X: 137,121,325 (GRCm39) |
|
probably benign |
Het |
Itpka |
T |
C |
2: 119,573,254 (GRCm39) |
L132P |
probably benign |
Het |
Jak3 |
T |
C |
8: 72,136,047 (GRCm39) |
S616P |
probably benign |
Het |
Kcnj11 |
T |
C |
7: 45,748,193 (GRCm39) |
K377E |
probably benign |
Het |
Parp1 |
T |
C |
1: 180,417,145 (GRCm39) |
I643T |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,843,250 (GRCm39) |
D1903G |
probably damaging |
Het |
Picalm |
G |
T |
7: 89,826,800 (GRCm39) |
S416I |
probably benign |
Het |
Pkn2 |
T |
C |
3: 142,534,770 (GRCm39) |
N285S |
probably benign |
Het |
Sh3gl2 |
A |
C |
4: 85,265,433 (GRCm39) |
|
probably benign |
Het |
Smpd1 |
C |
A |
7: 105,204,943 (GRCm39) |
T274K |
probably damaging |
Het |
Snap91 |
G |
A |
9: 86,680,611 (GRCm39) |
T424M |
probably benign |
Het |
Sox13 |
T |
A |
1: 133,320,873 (GRCm39) |
T46S |
probably benign |
Het |
Syne1 |
G |
A |
10: 5,002,691 (GRCm39) |
Q8075* |
probably null |
Het |
Trio |
T |
C |
15: 27,881,406 (GRCm39) |
E555G |
probably damaging |
Het |
Upf3b |
T |
C |
X: 36,360,586 (GRCm39) |
E298G |
probably damaging |
Het |
Vmn1r158 |
A |
G |
7: 22,490,204 (GRCm39) |
S2P |
probably benign |
Het |
Vmn1r6 |
T |
A |
6: 56,979,626 (GRCm39) |
L74H |
probably damaging |
Het |
Vwa2 |
T |
C |
19: 56,890,066 (GRCm39) |
S224P |
probably damaging |
Het |
Wbp1l |
T |
A |
19: 46,632,808 (GRCm39) |
V36E |
probably damaging |
Het |
Zfp367 |
A |
G |
13: 64,283,253 (GRCm39) |
S300P |
probably damaging |
Het |
|
Other mutations in Map4k3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
IGL03101:Map4k3
|
APN |
17 |
80,963,284 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
2013-06-21 |