Incidental Mutation 'R6985:Map4k3'
ID |
542939 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map4k3
|
Ensembl Gene |
ENSMUSG00000024242 |
Gene Name |
mitogen-activated protein kinase kinase kinase kinase 3 |
Synonyms |
9530052P13Rik |
MMRRC Submission |
045092-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6985 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
80887941-81035914 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80944161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 329
(S329P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108008
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025089]
[ENSMUST00000112389]
|
AlphaFold |
Q99JP0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025089
AA Change: S329P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000025089 Gene: ENSMUSG00000024242 AA Change: S329P
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 damaging
Transcript: ENSMUST00000112389
AA Change: S329P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108008 Gene: ENSMUSG00000024242 AA Change: S329P
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 |
|
Meta Mutation Damage Score |
0.0906 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.4%
|
Validation Efficiency |
100% (66/66) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akirin1 |
A |
G |
4: 123,630,649 (GRCm39) |
*192R |
probably null |
Het |
Ankar |
A |
C |
1: 72,697,641 (GRCm39) |
L836R |
probably damaging |
Het |
Anxa7 |
G |
T |
14: 20,521,636 (GRCm39) |
A20E |
unknown |
Het |
Arhgap1 |
T |
A |
2: 91,498,543 (GRCm39) |
Y147N |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,268,029 (GRCm39) |
V714A |
probably benign |
Het |
Arrdc3 |
T |
C |
13: 81,031,776 (GRCm39) |
L3P |
probably damaging |
Het |
Bhmt2 |
T |
C |
13: 93,799,830 (GRCm39) |
D202G |
possibly damaging |
Het |
Bub1b |
A |
G |
2: 118,437,095 (GRCm39) |
R98G |
probably damaging |
Het |
Capn10 |
T |
C |
1: 92,871,146 (GRCm39) |
Y319H |
probably damaging |
Het |
Cep95 |
T |
C |
11: 106,709,529 (GRCm39) |
F115S |
probably damaging |
Het |
Chsy3 |
A |
T |
18: 59,309,560 (GRCm39) |
|
probably null |
Het |
Cnot1 |
T |
C |
8: 96,460,757 (GRCm39) |
N1755S |
probably benign |
Het |
Cntn4 |
A |
G |
6: 106,656,378 (GRCm39) |
N893S |
probably benign |
Het |
Ctsh |
G |
A |
9: 89,936,657 (GRCm39) |
A19T |
possibly damaging |
Het |
Cttn |
C |
A |
7: 144,006,324 (GRCm39) |
E214* |
probably null |
Het |
Des |
A |
G |
1: 75,343,431 (GRCm39) |
E438G |
possibly damaging |
Het |
Dnaja4 |
T |
C |
9: 54,615,679 (GRCm39) |
V109A |
probably benign |
Het |
Dock1 |
A |
G |
7: 134,765,132 (GRCm39) |
E1708G |
possibly damaging |
Het |
Dst |
T |
C |
1: 34,229,934 (GRCm39) |
I2184T |
probably benign |
Het |
Enc1 |
C |
T |
13: 97,381,628 (GRCm39) |
T46I |
possibly damaging |
Het |
Etaa1 |
A |
G |
11: 17,896,108 (GRCm39) |
S670P |
probably damaging |
Het |
Fam168b |
G |
A |
1: 34,858,789 (GRCm39) |
T131M |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,201,460 (GRCm39) |
V1319E |
probably damaging |
Het |
Fcrl1 |
T |
A |
3: 87,296,957 (GRCm39) |
V302E |
probably benign |
Het |
Fgfr3 |
G |
C |
5: 33,892,785 (GRCm39) |
E744Q |
probably null |
Het |
Gmps |
T |
A |
3: 63,922,960 (GRCm39) |
I641N |
probably damaging |
Het |
Gpc2 |
T |
A |
5: 138,276,670 (GRCm39) |
Y152F |
probably damaging |
Het |
Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
Herc2 |
A |
G |
7: 55,782,228 (GRCm39) |
D1305G |
probably damaging |
Het |
Ighv1-37 |
T |
C |
12: 114,860,252 (GRCm39) |
T14A |
probably benign |
Het |
Insr |
T |
A |
8: 3,211,372 (GRCm39) |
M1156L |
possibly damaging |
Het |
Kirrel2 |
C |
A |
7: 30,154,731 (GRCm39) |
G127C |
probably damaging |
Het |
Krt10 |
T |
C |
11: 99,276,456 (GRCm39) |
N65S |
possibly damaging |
Het |
Lrig3 |
A |
G |
10: 125,850,738 (GRCm39) |
I1101M |
possibly damaging |
Het |
Lrrc55 |
T |
G |
2: 85,022,274 (GRCm39) |
N306H |
probably benign |
Het |
Mapkap1 |
T |
G |
2: 34,322,122 (GRCm39) |
H13Q |
probably damaging |
Het |
Mki67 |
A |
G |
7: 135,315,594 (GRCm39) |
L60S |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,570,817 (GRCm39) |
M626L |
probably benign |
Het |
Mycbp2 |
C |
T |
14: 103,444,117 (GRCm39) |
V1914I |
possibly damaging |
Het |
Myo5b |
T |
C |
18: 74,786,432 (GRCm39) |
F442L |
possibly damaging |
Het |
Naa35 |
T |
A |
13: 59,775,757 (GRCm39) |
M545K |
probably benign |
Het |
Nrxn2 |
T |
A |
19: 6,531,275 (GRCm39) |
V645E |
probably damaging |
Het |
Or52z14 |
A |
G |
7: 103,252,875 (GRCm39) |
T5A |
probably benign |
Het |
Or5af2 |
T |
C |
11: 58,707,939 (GRCm39) |
F35S |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,946,615 (GRCm39) |
Y231* |
probably null |
Het |
Pcdhb19 |
A |
G |
18: 37,630,211 (GRCm39) |
E2G |
probably benign |
Het |
Pik3c2a |
G |
A |
7: 116,017,223 (GRCm39) |
T178I |
probably damaging |
Het |
Plxna4 |
A |
G |
6: 32,214,643 (GRCm39) |
S613P |
probably damaging |
Het |
Pon1 |
T |
G |
6: 5,168,345 (GRCm39) |
D354A |
probably benign |
Het |
Prtg |
T |
G |
9: 72,758,783 (GRCm39) |
I379S |
probably damaging |
Het |
Rbm17 |
T |
G |
2: 11,595,504 (GRCm39) |
M234L |
probably benign |
Het |
Rex1bd |
T |
C |
8: 70,958,555 (GRCm39) |
S71G |
probably benign |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
Shank1 |
A |
G |
7: 43,994,337 (GRCm39) |
I833V |
unknown |
Het |
Slc35f1 |
C |
A |
10: 52,898,007 (GRCm39) |
D139E |
probably benign |
Het |
Spata31d1a |
T |
C |
13: 59,850,907 (GRCm39) |
N407S |
probably benign |
Het |
Spata31d1d |
T |
A |
13: 59,879,429 (GRCm39) |
I36F |
probably benign |
Het |
Sstr4 |
T |
A |
2: 148,238,169 (GRCm39) |
M260K |
probably damaging |
Het |
Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
Trat1 |
A |
G |
16: 48,574,634 (GRCm39) |
Y55H |
probably damaging |
Het |
Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
Vcan |
T |
C |
13: 89,828,075 (GRCm39) |
T3124A |
probably damaging |
Het |
Wdfy4 |
A |
T |
14: 32,821,074 (GRCm39) |
F1385Y |
possibly damaging |
Het |
Xrcc3 |
T |
C |
12: 111,778,530 (GRCm39) |
D7G |
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 |
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 |
|
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'- CCAAAGTTCCAGAGGGATCGAG -3'
(R):5'- TAGTTGGACTGATACTGCGATTAAC -3'
Sequencing Primer
(F):5'- GAGAGAATCCATATAGTCCTCA -3'
(R):5'- TCTGTAACGAGATCTGACGC -3'
|
Posted On |
2018-11-28 |