Incidental Mutation 'R4450:Map4k3'
| ID |
328946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4k3
|
| Ensembl Gene |
ENSMUSG00000024242 |
| Gene Name |
mitogen-activated protein kinase kinase kinase kinase 3 |
| Synonyms |
9530052P13Rik |
| MMRRC Submission |
041711-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4450 (G1)
|
| Quality Score |
154 |
|
Status
|
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 80911411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025089]
[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: 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 |
|
| Meta Mutation Damage Score |
0.9484 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acsl6 |
A |
G |
11: 54,219,229 (GRCm39) |
D278G |
probably damaging |
Het |
| Adamdec1 |
C |
T |
14: 68,810,568 (GRCm39) |
R196Q |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,392,508 (GRCm39) |
F2450L |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Angel1 |
A |
T |
12: 86,768,698 (GRCm39) |
Y262N |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,487,097 (GRCm39) |
E272G |
probably damaging |
Het |
| Bpifb6 |
A |
G |
2: 153,748,688 (GRCm39) |
E228G |
possibly damaging |
Het |
| Brca2 |
T |
G |
5: 150,459,518 (GRCm39) |
D264E |
probably damaging |
Het |
| Cdca4 |
T |
C |
12: 112,785,278 (GRCm39) |
N150S |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,107,861 (GRCm39) |
S510G |
probably damaging |
Het |
| Cldn12 |
T |
C |
5: 5,558,398 (GRCm39) |
T10A |
probably damaging |
Het |
| Clip2 |
C |
T |
5: 134,531,807 (GRCm39) |
G631D |
possibly damaging |
Het |
| Col19a1 |
T |
A |
1: 24,361,116 (GRCm39) |
T625S |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,781,720 (GRCm39) |
G1635D |
unknown |
Het |
| Dcp1b |
A |
G |
6: 119,183,437 (GRCm39) |
T175A |
probably benign |
Het |
| Eln |
C |
T |
5: 134,754,635 (GRCm39) |
|
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Gm9894 |
T |
A |
13: 67,913,199 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
T |
C |
7: 55,877,640 (GRCm39) |
L4569P |
probably damaging |
Het |
| Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
| Klhl42 |
G |
A |
6: 146,993,169 (GRCm39) |
G47D |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lzts2 |
A |
T |
19: 45,012,032 (GRCm39) |
K154* |
probably null |
Het |
| Mlc1 |
A |
G |
15: 88,847,693 (GRCm39) |
F285S |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,074,458 (GRCm39) |
M789K |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,306,933 (GRCm39) |
S319T |
probably damaging |
Het |
| Nsun4 |
A |
T |
4: 115,908,453 (GRCm39) |
Y702* |
probably null |
Het |
| Or8b52 |
A |
T |
9: 38,577,050 (GRCm39) |
V30E |
probably benign |
Het |
| Or8g34 |
G |
A |
9: 39,373,328 (GRCm39) |
M200I |
probably benign |
Het |
| Osbpl5 |
T |
A |
7: 143,248,643 (GRCm39) |
T640S |
probably benign |
Het |
| Plaat1 |
C |
T |
16: 29,046,976 (GRCm39) |
T165M |
possibly damaging |
Het |
| Rangrf |
A |
T |
11: 68,866,010 (GRCm39) |
|
probably benign |
Het |
| Rnpc3 |
T |
C |
3: 113,404,786 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
T |
10: 51,954,038 (GRCm39) |
G1867D |
probably damaging |
Het |
| Slc11a1 |
C |
A |
1: 74,424,694 (GRCm39) |
|
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Syt6 |
A |
G |
3: 103,492,961 (GRCm39) |
H156R |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,251,347 (GRCm39) |
|
probably null |
Het |
| Trim58 |
T |
C |
11: 58,542,191 (GRCm39) |
W384R |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
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 |
|
|
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'- TCATGACCTAAGTAGAGGCGTGG -3'
(R):5'- ACCCATTGAACCATTTTGCC -3'
Sequencing Primer
(F):5'- CCTAAGTAGAGGCGTGGTGAGC -3'
(R):5'- ATTGAACCATTTTGCCATCCTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation