Incidental Mutation 'R5230:Map4k3'
| ID |
403747 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5230 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
80887941-81035914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80922599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 441
(S441P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025089]
[ENSMUST00000112389]
|
| AlphaFold |
Q99JP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025089
AA Change: S441P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000025089
Gene: ENSMUSG00000024242
AA Change: S441P
| 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: S441P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108008
Gene: ENSMUSG00000024242
AA Change: S441P
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,651,820 (GRCm39) |
N1296S |
probably damaging |
Het |
| Abca5 |
A |
T |
11: 110,210,686 (GRCm39) |
D164E |
probably benign |
Het |
| Adamts5 |
T |
C |
16: 85,666,956 (GRCm39) |
D512G |
probably damaging |
Het |
| Ankrd11 |
G |
A |
8: 123,617,216 (GRCm39) |
T2191I |
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,986,171 (GRCm39) |
F270S |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,092,770 (GRCm39) |
|
probably null |
Het |
| Ccdc142 |
T |
C |
6: 83,084,777 (GRCm39) |
V591A |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,716,776 (GRCm39) |
E1613K |
unknown |
Het |
| Dnah9 |
T |
A |
11: 65,975,492 (GRCm39) |
H1519L |
probably damaging |
Het |
| Egf |
T |
C |
3: 129,511,673 (GRCm39) |
D498G |
possibly damaging |
Het |
| Enah |
A |
C |
1: 181,763,235 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,901,856 (GRCm39) |
N3056K |
possibly damaging |
Het |
| Gm4846 |
T |
A |
1: 166,317,748 (GRCm39) |
N223Y |
probably benign |
Het |
| Gm8104 |
A |
G |
14: 42,958,975 (GRCm39) |
N55S |
probably damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,370,404 (GRCm39) |
S1045P |
probably damaging |
Het |
| Haus4 |
A |
G |
14: 54,781,251 (GRCm39) |
M275T |
probably benign |
Het |
| Ighe |
T |
A |
12: 113,235,006 (GRCm39) |
T385S |
unknown |
Het |
| Ipo9 |
G |
A |
1: 135,347,808 (GRCm39) |
S78L |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,099,411 (GRCm39) |
V1473M |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,052,078 (GRCm39) |
Y345* |
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,012,775 (GRCm39) |
T105A |
probably benign |
Het |
| Med12l |
C |
T |
3: 59,153,209 (GRCm39) |
T1078I |
probably damaging |
Het |
| Mef2c |
T |
A |
13: 83,801,026 (GRCm39) |
M242K |
possibly damaging |
Het |
| Morc2b |
A |
G |
17: 33,355,226 (GRCm39) |
Y849H |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,971,004 (GRCm39) |
V1003E |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,393,674 (GRCm39) |
M1135K |
possibly damaging |
Het |
| Nckap1l |
A |
T |
15: 103,392,066 (GRCm39) |
I834F |
probably benign |
Het |
| Nrg1 |
T |
A |
8: 32,308,507 (GRCm39) |
Y503F |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,644,731 (GRCm39) |
S236P |
possibly damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,734 (GRCm39) |
I104N |
probably benign |
Het |
| Pcdhga2 |
T |
C |
18: 37,802,795 (GRCm39) |
V213A |
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,390,119 (GRCm39) |
M826K |
probably damaging |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Rnf38 |
T |
C |
4: 44,149,176 (GRCm39) |
Q57R |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,618,157 (GRCm39) |
T219A |
probably benign |
Het |
| Spata31d1c |
T |
A |
13: 65,183,248 (GRCm39) |
N263K |
probably benign |
Het |
| Spef2 |
T |
G |
15: 9,667,316 (GRCm39) |
I791L |
possibly damaging |
Het |
| Sv2a |
T |
C |
3: 96,092,776 (GRCm39) |
C159R |
probably damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,824,315 (GRCm39) |
L859Q |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,306,239 (GRCm39) |
R63L |
probably damaging |
Het |
| Tex52 |
A |
G |
6: 128,361,779 (GRCm39) |
E252G |
probably damaging |
Het |
| Tnfsf13b |
A |
G |
8: 10,081,608 (GRCm39) |
I257V |
possibly damaging |
Het |
| Tpk1 |
A |
G |
6: 43,400,653 (GRCm39) |
L172P |
probably damaging |
Het |
| Trim3 |
T |
G |
7: 105,268,720 (GRCm39) |
N78T |
possibly damaging |
Het |
| Try5 |
A |
G |
6: 41,289,312 (GRCm39) |
V88A |
probably benign |
Het |
| Vmn1r222 |
T |
G |
13: 23,417,172 (GRCm39) |
M14L |
probably benign |
Het |
| Wdr90 |
A |
T |
17: 26,074,277 (GRCm39) |
V678E |
probably benign |
Het |
| Zan |
A |
G |
5: 137,452,340 (GRCm39) |
L1543P |
unknown |
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 |
|
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'- AGTCAGTCTTCGCTTGGACAG -3'
(R):5'- GCTTTAGCGCACACTTTAGG -3'
Sequencing Primer
(F):5'- TCGCTTGGACAGGACCCTTC -3'
(R):5'- GCTTTAGCGCACACTTTAGGATAATG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation