Incidental Mutation 'R7040:Map4k3'
| ID |
547026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map4k3
|
| Ensembl Gene |
ENSMUSG00000024242 |
| Gene Name |
mitogen-activated protein kinase kinase kinase kinase 3 |
| Synonyms |
9530052P13Rik |
| MMRRC Submission |
045013-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7040 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
80887941-81035914 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 80988344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 36
(V36G)
|
| 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: V36G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025089
Gene: ENSMUSG00000024242
AA Change: V36G
| 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: V36G
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108008
Gene: ENSMUSG00000024242
AA Change: V36G
| 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: 99.7%
- 20x: 98.9%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
G |
7: 127,835,897 (GRCm39) |
L232P |
possibly damaging |
Het |
| Acaa1a |
T |
C |
9: 119,178,104 (GRCm39) |
V312A |
probably damaging |
Het |
| Bmp2 |
A |
G |
2: 133,403,604 (GRCm39) |
D385G |
probably damaging |
Het |
| C1qtnf9 |
T |
C |
14: 61,017,241 (GRCm39) |
V257A |
probably damaging |
Het |
| Cd3d |
G |
A |
9: 44,896,991 (GRCm39) |
V122I |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,053,519 (GRCm39) |
E199G |
probably damaging |
Het |
| Crb2 |
T |
A |
2: 37,677,696 (GRCm39) |
D326E |
probably benign |
Het |
| Cyp2c29 |
A |
C |
19: 39,318,781 (GRCm39) |
K420N |
possibly damaging |
Het |
| Cyp2g1 |
A |
C |
7: 26,520,184 (GRCm39) |
D472A |
probably damaging |
Het |
| Dab2 |
A |
C |
15: 6,451,732 (GRCm39) |
H116P |
probably damaging |
Het |
| Dnah7b |
G |
C |
1: 46,275,969 (GRCm39) |
E2619Q |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,584,909 (GRCm39) |
M208L |
probably benign |
Het |
| Eif4enif1 |
T |
G |
11: 3,184,040 (GRCm39) |
V521G |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fpr-rs6 |
A |
G |
17: 20,403,196 (GRCm39) |
M55T |
probably damaging |
Het |
| Grhpr |
A |
G |
4: 44,985,362 (GRCm39) |
S101G |
probably damaging |
Het |
| Kif15 |
T |
A |
9: 122,840,679 (GRCm39) |
D33E |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,936,158 (GRCm39) |
Q611R |
possibly damaging |
Het |
| Lrrc47 |
T |
A |
4: 154,104,909 (GRCm39) |
*123R |
probably null |
Het |
| Mme |
T |
A |
3: 63,276,344 (GRCm39) |
I707N |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,305,194 (GRCm39) |
E166G |
unknown |
Het |
| Mucl1 |
T |
A |
15: 103,783,844 (GRCm39) |
T108S |
possibly damaging |
Het |
| Myo1h |
A |
T |
5: 114,497,805 (GRCm39) |
D53V |
possibly damaging |
Het |
| Naa15 |
T |
A |
3: 51,380,205 (GRCm39) |
L811Q |
possibly damaging |
Het |
| Nalcn |
T |
C |
14: 123,525,267 (GRCm39) |
T1487A |
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,878,498 (GRCm39) |
L87H |
probably damaging |
Het |
| Nr2e1 |
A |
G |
10: 42,444,374 (GRCm39) |
V245A |
probably damaging |
Het |
| Nt5c2 |
A |
T |
19: 46,881,974 (GRCm39) |
F291Y |
possibly damaging |
Het |
| Ooep |
T |
C |
9: 78,285,683 (GRCm39) |
N43S |
possibly damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,639,183 (GRCm39) |
M200V |
probably benign |
Het |
| Or4e1 |
T |
C |
14: 52,700,932 (GRCm39) |
D178G |
possibly damaging |
Het |
| Or52i2 |
A |
T |
7: 102,319,937 (GRCm39) |
Q270L |
probably benign |
Het |
| Or52n2c |
A |
T |
7: 104,574,717 (GRCm39) |
C85S |
probably benign |
Het |
| Ovch2 |
A |
T |
7: 107,395,772 (GRCm39) |
I82N |
probably damaging |
Het |
| Palb2 |
A |
T |
7: 121,713,622 (GRCm39) |
M524K |
possibly damaging |
Het |
| Patj |
T |
C |
4: 98,329,317 (GRCm39) |
S524P |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,907,318 (GRCm39) |
Y401N |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,637,770 (GRCm39) |
T99S |
probably benign |
Het |
| Plcb4 |
G |
A |
2: 135,774,182 (GRCm39) |
A155T |
probably benign |
Het |
| Rpap3 |
A |
G |
15: 97,576,993 (GRCm39) |
V585A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spen |
T |
A |
4: 141,221,693 (GRCm39) |
T302S |
unknown |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Ube2o |
T |
C |
11: 116,432,686 (GRCm39) |
E760G |
probably benign |
Het |
| Uimc1 |
T |
A |
13: 55,223,267 (GRCm39) |
|
probably null |
Het |
| Usp16 |
C |
T |
16: 87,277,817 (GRCm39) |
A689V |
probably damaging |
Het |
| Vmn2r60 |
G |
A |
7: 41,791,666 (GRCm39) |
A530T |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,393,772 (GRCm39) |
M1185K |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,149,645 (GRCm39) |
S136P |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,967,529 (GRCm39) |
N175S |
probably benign |
Het |
| Zfp160 |
A |
T |
17: 21,246,794 (GRCm39) |
H448L |
probably damaging |
Het |
| Zfp90 |
T |
A |
8: 107,151,641 (GRCm39) |
C451* |
probably null |
Het |
| Zfp945 |
A |
G |
17: 23,071,264 (GRCm39) |
C212R |
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 |
|
|
R6985:Map4k3
|
UTSW |
17 |
80,944,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACTGAGCAAACCAGCGAATG -3'
(R):5'- CATTATGAAGGACTTGGTGCTG -3'
Sequencing Primer
(F):5'- TTAGCCAGGCATGCCTACAATTG -3'
(R):5'- CTGGCTGGCTGTAAATTAGATTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation