Incidental Mutation 'R5827:Map4k3'
ID |
501610 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map4k3
|
Ensembl Gene |
ENSMUSG00000024242 |
Gene Name |
mitogen-activated protein kinase kinase kinase kinase 3 |
Synonyms |
9530052P13Rik |
MMRRC Submission |
043218-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5827 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
80887941-81035914 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 80900712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108008
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025089]
[ENSMUST00000112389]
[ENSMUST00000112389]
|
AlphaFold |
Q99JP0 |
Predicted Effect |
probably benign
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Agl |
T |
C |
3: 116,574,703 (GRCm39) |
I34V |
probably damaging |
Het |
Cavin4 |
A |
T |
4: 48,672,074 (GRCm39) |
D173V |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,716,078 (GRCm39) |
D884G |
probably damaging |
Het |
Col6a5 |
G |
A |
9: 105,805,319 (GRCm39) |
R1196* |
probably null |
Het |
Disc1 |
T |
C |
8: 125,862,104 (GRCm39) |
L492P |
probably damaging |
Het |
Dscam |
A |
G |
16: 96,451,191 (GRCm39) |
|
probably null |
Het |
Fbxw4 |
T |
C |
19: 45,568,096 (GRCm39) |
T26A |
probably benign |
Het |
H1f6 |
A |
G |
13: 23,880,185 (GRCm39) |
K113E |
possibly damaging |
Het |
Klhl24 |
T |
A |
16: 19,938,871 (GRCm39) |
Y475* |
probably null |
Het |
Mfsd6 |
T |
C |
1: 52,701,551 (GRCm39) |
E633G |
probably damaging |
Het |
Mycn |
G |
A |
12: 12,989,794 (GRCm39) |
R201* |
probably null |
Het |
Nek11 |
T |
C |
9: 105,191,944 (GRCm39) |
I155M |
probably damaging |
Het |
Notch2 |
G |
A |
3: 97,980,178 (GRCm39) |
V231I |
possibly damaging |
Het |
Npnt |
A |
C |
3: 132,612,536 (GRCm39) |
V187G |
possibly damaging |
Het |
Nr1d2 |
C |
A |
14: 18,222,248 (GRCm38) |
V8L |
possibly damaging |
Het |
Nup188 |
C |
T |
2: 30,229,859 (GRCm39) |
T1359I |
probably damaging |
Het |
Or2m12 |
T |
A |
16: 19,105,182 (GRCm39) |
I104L |
probably benign |
Het |
Or4k35 |
A |
T |
2: 111,100,266 (GRCm39) |
W149R |
probably damaging |
Het |
Or5m11b |
C |
A |
2: 85,805,650 (GRCm39) |
P21Q |
probably benign |
Het |
Or8g36 |
T |
A |
9: 39,422,354 (GRCm39) |
I221F |
probably damaging |
Het |
P2rx2 |
C |
T |
5: 110,488,195 (GRCm39) |
R453Q |
probably benign |
Het |
Pcdhb7 |
A |
G |
18: 37,475,077 (GRCm39) |
E71G |
probably benign |
Het |
Pcdhb9 |
A |
T |
18: 37,535,011 (GRCm39) |
D335V |
possibly damaging |
Het |
Pcsk9 |
C |
T |
4: 106,306,144 (GRCm39) |
G368R |
probably damaging |
Het |
Ptgr2 |
G |
A |
12: 84,342,110 (GRCm39) |
|
probably null |
Het |
Rhebl1 |
T |
A |
15: 98,776,151 (GRCm39) |
I168F |
probably damaging |
Het |
Serpina3b |
A |
G |
12: 104,097,036 (GRCm39) |
T106A |
probably benign |
Het |
Sh3pxd2b |
A |
G |
11: 32,372,422 (GRCm39) |
I530V |
probably benign |
Het |
Skint10 |
T |
C |
4: 112,603,972 (GRCm39) |
T72A |
probably benign |
Het |
Slx4 |
G |
T |
16: 3,819,148 (GRCm39) |
F8L |
possibly damaging |
Het |
Tdp2 |
T |
C |
13: 25,015,836 (GRCm39) |
L41P |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,498,764 (GRCm39) |
I847V |
probably benign |
Het |
Tmem200c |
A |
G |
17: 69,149,004 (GRCm39) |
E529G |
probably benign |
Het |
Tnpo1 |
T |
C |
13: 98,993,416 (GRCm39) |
D590G |
probably damaging |
Het |
Ube3d |
T |
C |
9: 86,254,489 (GRCm39) |
T331A |
possibly damaging |
Het |
Ugt1a2 |
T |
A |
1: 88,128,787 (GRCm39) |
S143R |
probably damaging |
Het |
Zfp58 |
A |
T |
13: 67,639,412 (GRCm39) |
C360S |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCCAAGCACACAAGGATGG -3'
(R):5'- CTGGTGATGTTCAAAGCACAG -3'
Sequencing Primer
(F):5'- ACAAGGATGGTGTCTCTCTCCAG -3'
(R):5'- GTGATGTTCAAAGCACAGCCCAG -3'
|
Posted On |
2017-12-01 |