Incidental Mutation 'IGL01329:Map4k3'
ID |
74429 |
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 # |
IGL01329
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
80887941-81035914 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80951613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 289
(V289A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108008
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025089]
[ENSMUST00000112389]
|
AlphaFold |
Q99JP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025089
AA Change: V289A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025089 Gene: ENSMUSG00000024242 AA Change: V289A
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 benign
Transcript: ENSMUST00000112389
AA Change: V289A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108008 Gene: ENSMUSG00000024242 AA Change: V289A
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
C |
5: 8,944,166 (GRCm39) |
|
probably null |
Het |
Ankib1 |
A |
T |
5: 3,784,194 (GRCm39) |
|
probably benign |
Het |
Birc2 |
T |
C |
9: 7,860,733 (GRCm39) |
Y195C |
probably damaging |
Het |
Cand2 |
T |
C |
6: 115,759,755 (GRCm39) |
I142T |
probably benign |
Het |
Cdh15 |
T |
C |
8: 123,592,062 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
G |
A |
7: 17,479,534 (GRCm39) |
G217D |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,917,385 (GRCm39) |
H25L |
unknown |
Het |
Cfap95 |
A |
G |
19: 23,630,100 (GRCm39) |
|
probably benign |
Het |
Col22a1 |
A |
G |
15: 71,778,889 (GRCm39) |
V266A |
probably benign |
Het |
D3Ertd751e |
A |
G |
3: 41,703,132 (GRCm39) |
D69G |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,622,164 (GRCm39) |
I1518V |
probably damaging |
Het |
Entpd8 |
A |
G |
2: 24,974,358 (GRCm39) |
K381R |
probably benign |
Het |
Fli1 |
T |
A |
9: 32,335,397 (GRCm39) |
K345I |
probably damaging |
Het |
G6pd2 |
T |
C |
5: 61,967,281 (GRCm39) |
V352A |
probably damaging |
Het |
Gbp11 |
C |
T |
5: 105,475,482 (GRCm39) |
|
probably null |
Het |
Gm11992 |
A |
G |
11: 9,018,383 (GRCm39) |
*292W |
probably null |
Het |
Ifnar2 |
T |
A |
16: 91,188,599 (GRCm39) |
|
probably benign |
Het |
Impg1 |
T |
C |
9: 80,230,111 (GRCm39) |
K661R |
probably benign |
Het |
Inf2 |
G |
T |
12: 112,578,290 (GRCm39) |
E651* |
probably null |
Het |
Ints1 |
A |
G |
5: 139,753,258 (GRCm39) |
|
probably benign |
Het |
Iqcf4 |
T |
C |
9: 106,447,832 (GRCm39) |
K26E |
probably benign |
Het |
Mis18bp1 |
T |
C |
12: 65,205,215 (GRCm39) |
K319R |
possibly damaging |
Het |
Nubpl |
T |
C |
12: 52,352,638 (GRCm39) |
V291A |
probably damaging |
Het |
Or4f56 |
A |
G |
2: 111,703,295 (GRCm39) |
F302L |
probably benign |
Het |
Or4k15c |
C |
T |
14: 50,321,454 (GRCm39) |
R228H |
probably benign |
Het |
Or8b57 |
A |
G |
9: 40,003,324 (GRCm39) |
S313P |
possibly damaging |
Het |
Or8k38 |
T |
C |
2: 86,488,551 (GRCm39) |
N84D |
probably benign |
Het |
Otof |
A |
G |
5: 30,598,723 (GRCm39) |
S29P |
probably benign |
Het |
Pcca |
A |
G |
14: 122,927,545 (GRCm39) |
D436G |
possibly damaging |
Het |
Rasef |
T |
A |
4: 73,645,882 (GRCm39) |
T496S |
probably damaging |
Het |
Saa2 |
A |
G |
7: 46,402,896 (GRCm39) |
D49G |
probably benign |
Het |
Scart1 |
T |
A |
7: 139,804,552 (GRCm39) |
|
probably null |
Het |
Scn2a |
A |
G |
2: 65,547,852 (GRCm39) |
I1015V |
probably benign |
Het |
Sim2 |
T |
C |
16: 93,907,119 (GRCm39) |
Y154H |
possibly damaging |
Het |
Spag17 |
A |
G |
3: 100,002,865 (GRCm39) |
H1863R |
probably benign |
Het |
Supt16 |
C |
T |
14: 52,414,489 (GRCm39) |
E438K |
probably benign |
Het |
Svil |
A |
G |
18: 5,064,501 (GRCm39) |
E1111G |
probably benign |
Het |
Trabd2b |
T |
C |
4: 114,266,322 (GRCm39) |
V112A |
probably damaging |
Het |
Vmn1r205 |
T |
C |
13: 22,776,273 (GRCm39) |
I276M |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,882,776 (GRCm39) |
I939N |
possibly damaging |
Het |
Zc3h11a |
T |
C |
1: 133,553,600 (GRCm39) |
M515V |
probably benign |
Het |
Zfp457 |
T |
C |
13: 67,442,330 (GRCm39) |
T82A |
possibly 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 |
|
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 |
2013-10-07 |