Incidental Mutation 'R4151:Map4k3'
ID |
314924 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map4k3
|
Ensembl Gene |
ENSMUSG00000024242 |
Gene Name |
mitogen-activated protein kinase kinase kinase kinase 3 |
Synonyms |
9530052P13Rik |
MMRRC Submission |
040861-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4151 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
80887941-81035914 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80951963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 228
(K228R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025089]
[ENSMUST00000112389]
|
AlphaFold |
Q99JP0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025089
AA Change: K228R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025089 Gene: ENSMUSG00000024242 AA Change: K228R
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 |
possibly damaging
Transcript: ENSMUST00000112389
AA Change: K228R
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000108008 Gene: ENSMUSG00000024242 AA Change: K228R
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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano10 |
C |
T |
9: 122,090,601 (GRCm39) |
W237* |
probably null |
Het |
Armc9 |
C |
T |
1: 86,092,497 (GRCm39) |
T87M |
probably damaging |
Het |
Astn2 |
C |
T |
4: 65,647,557 (GRCm39) |
|
probably null |
Het |
Atxn7l1 |
G |
A |
12: 33,414,481 (GRCm39) |
V506M |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,920,914 (GRCm39) |
N36D |
probably benign |
Het |
Cfap45 |
T |
A |
1: 172,359,788 (GRCm39) |
I96N |
probably damaging |
Het |
Cyp8b1 |
A |
T |
9: 121,745,134 (GRCm39) |
V66D |
probably damaging |
Het |
Dnajb6 |
C |
G |
5: 29,961,234 (GRCm39) |
L118V |
probably benign |
Het |
Dpy19l4 |
A |
G |
4: 11,309,485 (GRCm39) |
S44P |
possibly damaging |
Het |
Dync2li1 |
A |
G |
17: 84,935,763 (GRCm39) |
H20R |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,836,254 (GRCm39) |
S695R |
possibly damaging |
Het |
Eif3g |
T |
C |
9: 20,806,429 (GRCm39) |
D220G |
probably benign |
Het |
Fbxo38 |
GTGCTGCTGCTGCTGCTGCTGC |
GTGCTGCTGCTGCTGCTGC |
18: 62,648,399 (GRCm39) |
|
probably benign |
Het |
Gata2 |
T |
A |
6: 88,176,620 (GRCm39) |
H26Q |
probably damaging |
Het |
Gle1 |
T |
C |
2: 29,834,056 (GRCm39) |
I434T |
probably damaging |
Het |
Gm5145 |
A |
G |
17: 20,791,360 (GRCm39) |
E246G |
probably damaging |
Het |
Ints10 |
T |
A |
8: 69,247,250 (GRCm39) |
|
probably null |
Het |
Kdr |
G |
T |
5: 76,117,761 (GRCm39) |
A664E |
possibly damaging |
Het |
Klhl1 |
A |
C |
14: 96,755,752 (GRCm39) |
M1R |
probably null |
Het |
Lama4 |
T |
A |
10: 38,881,424 (GRCm39) |
F71Y |
probably benign |
Het |
Madd |
C |
A |
2: 90,973,428 (GRCm39) |
R1410L |
probably benign |
Het |
Magi2 |
T |
C |
5: 19,432,290 (GRCm39) |
S2P |
probably damaging |
Het |
Mrpl43 |
A |
G |
19: 44,994,175 (GRCm39) |
L148P |
possibly damaging |
Het |
Msi2 |
G |
C |
11: 88,608,870 (GRCm39) |
S16C |
probably damaging |
Het |
Myo1e |
G |
T |
9: 70,204,633 (GRCm39) |
G78* |
probably null |
Het |
Notch2 |
T |
C |
3: 98,054,387 (GRCm39) |
L2350S |
possibly damaging |
Het |
Nptn |
G |
T |
9: 58,550,825 (GRCm39) |
S168I |
probably benign |
Het |
Nsmce2 |
A |
G |
15: 59,473,214 (GRCm39) |
T244A |
probably benign |
Het |
Or5aq6 |
C |
T |
2: 86,923,514 (GRCm39) |
V76I |
probably benign |
Het |
Ostn |
T |
A |
16: 27,140,152 (GRCm39) |
S22T |
probably benign |
Het |
Plekhb2 |
T |
G |
1: 34,903,564 (GRCm39) |
F102V |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,634,637 (GRCm39) |
D3594G |
probably benign |
Het |
Psmd6 |
G |
C |
14: 14,120,157 (GRCm38) |
L61V |
probably benign |
Het |
Rbm33 |
C |
T |
5: 28,592,938 (GRCm39) |
P573S |
probably damaging |
Het |
Rfk |
A |
C |
19: 17,372,672 (GRCm39) |
I65L |
probably benign |
Het |
Rnf141 |
A |
T |
7: 110,436,406 (GRCm39) |
D7E |
probably benign |
Het |
Shank2 |
A |
T |
7: 143,608,565 (GRCm39) |
K153M |
probably damaging |
Het |
Slc30a2 |
A |
T |
4: 134,071,359 (GRCm39) |
I31F |
probably benign |
Het |
Slco3a1 |
G |
T |
7: 74,009,586 (GRCm39) |
A243E |
probably damaging |
Het |
Stab2 |
G |
A |
10: 86,838,847 (GRCm39) |
T73I |
probably benign |
Het |
Sufu |
G |
A |
19: 46,438,411 (GRCm39) |
|
probably null |
Het |
Sync |
C |
T |
4: 129,187,519 (GRCm39) |
Q184* |
probably null |
Het |
Tnfrsf25 |
G |
T |
4: 152,204,258 (GRCm39) |
A376S |
probably damaging |
Het |
Tnpo1 |
A |
T |
13: 98,989,407 (GRCm39) |
I765N |
probably damaging |
Het |
Ube2d2b |
A |
T |
5: 107,978,747 (GRCm39) |
K133* |
probably null |
Het |
Ulk3 |
C |
T |
9: 57,499,650 (GRCm39) |
S217L |
possibly damaging |
Het |
Upf2 |
C |
A |
2: 5,966,516 (GRCm39) |
Q379K |
unknown |
Het |
Vegfc |
T |
A |
8: 54,530,824 (GRCm39) |
L4Q |
unknown |
Het |
Vmn2r104 |
A |
T |
17: 20,250,147 (GRCm39) |
I708N |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGCTTTTCTGCATTGGGTC -3'
(R):5'- TTGACCTTCACCCGATGAGG -3'
Sequencing Primer
(F):5'- AGCTTTTCTGCATTGGGTCTTTTC -3'
(R):5'- TTCACCCGATGAGGTCAGTG -3'
|
Posted On |
2015-05-14 |