Incidental Mutation 'R6849:Map4k3'
| ID |
534945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4k3
|
| Ensembl Gene |
ENSMUSG00000024242 |
| Gene Name |
mitogen-activated protein kinase kinase kinase kinase 3 |
| Synonyms |
9530052P13Rik |
| MMRRC Submission |
044953-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6849 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
80887941-81035914 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 80937842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025089]
[ENSMUST00000025089]
[ENSMUST00000112389]
[ENSMUST00000112389]
|
| AlphaFold |
Q99JP0 |
| Predicted Effect |
probably null
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: 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
G |
T |
8: 125,366,261 (GRCm39) |
Q161K |
probably damaging |
Het |
| 4930578I06Rik |
A |
T |
14: 64,223,687 (GRCm39) |
W30R |
probably damaging |
Het |
| 4930578I06Rik |
G |
T |
14: 64,223,688 (GRCm39) |
N29K |
probably benign |
Het |
| Aldh6a1 |
A |
G |
12: 84,490,561 (GRCm39) |
V18A |
probably benign |
Het |
| Apoa5 |
A |
G |
9: 46,181,298 (GRCm39) |
K125E |
probably benign |
Het |
| Atosa |
A |
C |
9: 74,916,594 (GRCm39) |
N398H |
probably damaging |
Het |
| Bphl |
T |
A |
13: 34,234,252 (GRCm39) |
|
probably null |
Het |
| C2cd3 |
T |
A |
7: 100,056,134 (GRCm39) |
V514E |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,945,506 (GRCm39) |
D202G |
probably benign |
Het |
| Chd5 |
A |
T |
4: 152,462,995 (GRCm39) |
N1420Y |
probably damaging |
Het |
| Cnot10 |
A |
T |
9: 114,461,004 (GRCm39) |
D55E |
probably benign |
Het |
| Cntn1 |
T |
A |
15: 92,203,127 (GRCm39) |
I803N |
probably damaging |
Het |
| Col7a1 |
G |
T |
9: 108,804,121 (GRCm39) |
V2217L |
unknown |
Het |
| Cpne9 |
T |
G |
6: 113,279,079 (GRCm39) |
V491G |
probably damaging |
Het |
| Cracd |
C |
A |
5: 77,004,857 (GRCm39) |
A406E |
unknown |
Het |
| Cracd |
C |
T |
5: 77,005,004 (GRCm39) |
A455V |
unknown |
Het |
| Csnk2a1 |
C |
A |
2: 152,092,484 (GRCm39) |
H18Q |
probably benign |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,303 (GRCm39) |
Y253* |
probably null |
Het |
| Dnah14 |
A |
T |
1: 181,636,510 (GRCm39) |
M4321L |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,278,770 (GRCm39) |
T1122A |
probably benign |
Het |
| Eif4g1 |
A |
G |
16: 20,499,495 (GRCm39) |
I515V |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,163,611 (GRCm39) |
K2082E |
possibly damaging |
Het |
| Fstl1 |
A |
G |
16: 37,641,521 (GRCm39) |
K99R |
probably benign |
Het |
| Gar1 |
T |
C |
3: 129,623,038 (GRCm39) |
N117S |
probably damaging |
Het |
| Gm3238 |
A |
T |
10: 77,606,744 (GRCm39) |
|
probably benign |
Het |
| Gm32742 |
C |
T |
9: 51,050,014 (GRCm39) |
M1528I |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,500,697 (GRCm39) |
I49V |
probably benign |
Het |
| Hyou1 |
A |
G |
9: 44,298,561 (GRCm39) |
I581V |
probably damaging |
Het |
| Itk |
T |
C |
11: 46,222,762 (GRCm39) |
N563S |
probably damaging |
Het |
| Lingo1 |
A |
G |
9: 56,526,900 (GRCm39) |
L563P |
probably damaging |
Het |
| Lipc |
A |
G |
9: 70,726,129 (GRCm39) |
|
probably null |
Het |
| Mctp2 |
C |
T |
7: 71,861,466 (GRCm39) |
C393Y |
probably damaging |
Het |
| Mei1 |
T |
A |
15: 81,964,146 (GRCm39) |
L229M |
possibly damaging |
Het |
| Or13g1 |
T |
C |
7: 85,956,248 (GRCm39) |
I24M |
possibly damaging |
Het |
| Or9i2 |
G |
T |
19: 13,816,203 (GRCm39) |
C111* |
probably null |
Het |
| Pcnx2 |
A |
G |
8: 126,587,949 (GRCm39) |
V833A |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,184,307 (GRCm39) |
N388D |
possibly damaging |
Het |
| Pi4ka |
G |
A |
16: 17,121,285 (GRCm39) |
A1197V |
possibly damaging |
Het |
| Psd |
A |
G |
19: 46,306,185 (GRCm39) |
Y36H |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,853,468 (GRCm39) |
|
probably null |
Het |
| Shisa6 |
A |
G |
11: 66,416,327 (GRCm39) |
V155A |
probably benign |
Het |
| Slc45a3 |
T |
A |
1: 131,905,702 (GRCm39) |
C242S |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tmc3 |
T |
A |
7: 83,235,565 (GRCm39) |
I54K |
probably damaging |
Het |
| Tmprss11g |
T |
A |
5: 86,644,491 (GRCm39) |
I118F |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,744,687 (GRCm39) |
D5454V |
possibly damaging |
Het |
| Ube2f |
A |
G |
1: 91,181,935 (GRCm39) |
|
probably null |
Het |
| Ubr7 |
T |
C |
12: 102,724,342 (GRCm39) |
S19P |
probably damaging |
Het |
| Vav3 |
T |
C |
3: 109,428,782 (GRCm39) |
V371A |
probably damaging |
Het |
| Vmn2r28 |
A |
G |
7: 5,483,806 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r95 |
T |
G |
17: 18,664,181 (GRCm39) |
C467G |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,664,182 (GRCm39) |
C467F |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,905,455 (GRCm39) |
D3325G |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,220,834 (GRCm39) |
T1158A |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,276 (GRCm39) |
N848K |
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 |
|
|
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 |
|
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'- GCCAGCATTTAAAACAGTCAATCAG -3'
(R):5'- GATCAAGGCCCTGGTTCAAC -3'
Sequencing Primer
(F):5'- CTCATTTTCAGCAACACAG -3'
(R):5'- GGTTCAACCCCCACTACTG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation