Incidental Mutation 'R2249:Map3k5'
| ID |
240788 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k5
|
| Ensembl Gene |
ENSMUSG00000071369 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 5 |
| Synonyms |
ASK1, 7420452D20Rik, ASK, Mekk5 |
| MMRRC Submission |
040249-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2249 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
19810218-20018499 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20003443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1152
(F1152L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095806]
[ENSMUST00000120259]
|
| AlphaFold |
O35099 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095806
AA Change: F1160L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093485
Gene: ENSMUSG00000071369
AA Change: F1160L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
99 |
N/A |
INTRINSIC |
|
Pfam:DUF4071
|
172 |
552 |
2.1e-162 |
PFAM |
|
S_TKc
|
687 |
945 |
8.08e-92 |
SMART |
|
low complexity region
|
1195 |
1207 |
N/A |
INTRINSIC |
|
low complexity region
|
1225 |
1238 |
N/A |
INTRINSIC |
|
coiled coil region
|
1251 |
1292 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120259
AA Change: F1152L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112864
Gene: ENSMUSG00000071369
AA Change: F1152L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
99 |
N/A |
INTRINSIC |
|
Pfam:DUF4071
|
172 |
544 |
1.7e-156 |
PFAM |
|
S_TKc
|
679 |
937 |
8.08e-92 |
SMART |
|
low complexity region
|
1187 |
1199 |
N/A |
INTRINSIC |
|
low complexity region
|
1217 |
1230 |
N/A |
INTRINSIC |
|
coiled coil region
|
1243 |
1284 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156369
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are overtly normal, however apoptosis abnormalities are evident in cultured cells and after induced heart damage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
G |
A |
15: 101,100,975 (GRCm39) |
R379Q |
probably null |
Het |
| Adam23 |
C |
T |
1: 63,574,335 (GRCm39) |
Q276* |
probably null |
Het |
| Apob |
A |
T |
12: 8,057,499 (GRCm39) |
S1961C |
probably damaging |
Het |
| Atxn7l1 |
C |
T |
12: 33,408,839 (GRCm39) |
P334S |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,917,827 (GRCm39) |
M258V |
possibly damaging |
Het |
| Cd34 |
A |
C |
1: 194,630,260 (GRCm39) |
T65P |
possibly damaging |
Het |
| Cog6 |
A |
G |
3: 52,907,900 (GRCm39) |
|
probably null |
Het |
| Cp |
T |
C |
3: 20,041,734 (GRCm39) |
M953T |
probably damaging |
Het |
| Cwc27 |
C |
T |
13: 104,768,130 (GRCm39) |
R455Q |
unknown |
Het |
| Dhx57 |
A |
T |
17: 80,588,663 (GRCm39) |
D63E |
probably damaging |
Het |
| Elapor1 |
A |
T |
3: 108,378,726 (GRCm39) |
Y409* |
probably null |
Het |
| Flt4 |
T |
A |
11: 49,536,786 (GRCm39) |
M1252K |
possibly damaging |
Het |
| Gfral |
C |
T |
9: 76,100,631 (GRCm39) |
C269Y |
probably damaging |
Het |
| Itih4 |
C |
T |
14: 30,621,351 (GRCm39) |
Q788* |
probably null |
Het |
| Kif18b |
A |
G |
11: 102,803,214 (GRCm39) |
S499P |
probably benign |
Het |
| Map1a |
G |
C |
2: 121,130,768 (GRCm39) |
R528P |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,599 (GRCm39) |
D160G |
probably benign |
Het |
| Mtcl2 |
A |
T |
2: 156,882,013 (GRCm39) |
C680S |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,847,469 (GRCm39) |
M616L |
probably benign |
Het |
| Ndst4 |
A |
T |
3: 125,231,823 (GRCm39) |
I131F |
probably benign |
Het |
| Neto1 |
G |
T |
18: 86,479,399 (GRCm39) |
A196S |
probably benign |
Het |
| Notum |
A |
G |
11: 120,545,237 (GRCm39) |
F441L |
probably benign |
Het |
| Nsmce4a |
A |
G |
7: 130,140,769 (GRCm39) |
I239T |
probably benign |
Het |
| Or51g1 |
A |
T |
7: 102,633,647 (GRCm39) |
N241K |
possibly damaging |
Het |
| Or52z14 |
T |
A |
7: 103,252,943 (GRCm39) |
D27E |
probably benign |
Het |
| Or5d35 |
A |
T |
2: 87,855,707 (GRCm39) |
I214F |
probably damaging |
Het |
| Or6s1 |
T |
A |
14: 51,307,870 (GRCm39) |
K327* |
probably null |
Het |
| Or6x1 |
A |
T |
9: 40,098,980 (GRCm39) |
T190S |
possibly damaging |
Het |
| Or8k40 |
A |
G |
2: 86,584,398 (GRCm39) |
M228T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,700,841 (GRCm39) |
V221D |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,808,545 (GRCm39) |
Y474C |
probably damaging |
Het |
| Ptk6 |
A |
C |
2: 180,838,173 (GRCm39) |
H363Q |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,342,948 (GRCm39) |
W187R |
probably damaging |
Het |
| Rbfox3 |
A |
T |
11: 118,394,564 (GRCm39) |
F132L |
probably damaging |
Het |
| Rcl1 |
A |
T |
19: 29,099,268 (GRCm39) |
I188F |
possibly damaging |
Het |
| Scfd1 |
T |
A |
12: 51,462,299 (GRCm39) |
S385T |
possibly damaging |
Het |
| Sema6d |
A |
G |
2: 124,501,508 (GRCm39) |
E483G |
possibly damaging |
Het |
| Semp2l2b |
T |
C |
10: 21,943,015 (GRCm39) |
I322V |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,388,890 (GRCm39) |
V372A |
probably benign |
Het |
| Slc17a6 |
G |
A |
7: 51,317,654 (GRCm39) |
G429D |
probably damaging |
Het |
| Slc22a5 |
A |
G |
11: 53,774,532 (GRCm39) |
V151A |
possibly damaging |
Het |
| Spidr |
T |
C |
16: 15,936,787 (GRCm39) |
D106G |
probably damaging |
Het |
| Tekt3 |
A |
T |
11: 62,974,778 (GRCm39) |
T366S |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,710,398 (GRCm39) |
M281T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,782,485 (GRCm39) |
V917A |
probably damaging |
Het |
| Tubgcp4 |
A |
T |
2: 121,014,110 (GRCm39) |
D221V |
possibly damaging |
Het |
| Ubr4 |
C |
T |
4: 139,176,232 (GRCm39) |
R3153W |
probably damaging |
Het |
| Vmn1r89 |
A |
C |
7: 12,954,187 (GRCm39) |
T308P |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,326 (GRCm39) |
I27T |
probably benign |
Het |
| Vps13c |
T |
G |
9: 67,895,335 (GRCm39) |
|
probably null |
Het |
| Zfp142 |
A |
G |
1: 74,606,191 (GRCm39) |
V1793A |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,109 (GRCm39) |
C395S |
possibly damaging |
Het |
|
| Other mutations in Map3k5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00569:Map3k5
|
APN |
10 |
19,810,790 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL00978:Map3k5
|
APN |
10 |
20,017,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01470:Map3k5
|
APN |
10 |
19,993,933 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01992:Map3k5
|
APN |
10 |
19,904,879 (GRCm39) |
nonsense |
probably null |
|
|
IGL02479:Map3k5
|
APN |
10 |
19,932,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02728:Map3k5
|
APN |
10 |
19,994,038 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02812:Map3k5
|
APN |
10 |
19,900,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03104:Map3k5
|
APN |
10 |
20,007,801 (GRCm39) |
missense |
probably benign |
|
|
P0033:Map3k5
|
UTSW |
10 |
20,007,959 (GRCm39) |
splice site |
probably benign |
|
|
PIT4434001:Map3k5
|
UTSW |
10 |
19,902,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0284:Map3k5
|
UTSW |
10 |
19,876,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1103:Map3k5
|
UTSW |
10 |
19,899,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1172:Map3k5
|
UTSW |
10 |
19,932,394 (GRCm39) |
intron |
probably benign |
|
|
R1250:Map3k5
|
UTSW |
10 |
19,986,521 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1493:Map3k5
|
UTSW |
10 |
19,904,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Map3k5
|
UTSW |
10 |
20,012,657 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1693:Map3k5
|
UTSW |
10 |
19,979,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Map3k5
|
UTSW |
10 |
19,986,593 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1832:Map3k5
|
UTSW |
10 |
19,975,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Map3k5
|
UTSW |
10 |
19,979,909 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1869:Map3k5
|
UTSW |
10 |
20,007,855 (GRCm39) |
nonsense |
probably null |
|
|
R2156:Map3k5
|
UTSW |
10 |
19,900,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2214:Map3k5
|
UTSW |
10 |
19,902,035 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2221:Map3k5
|
UTSW |
10 |
19,943,666 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2223:Map3k5
|
UTSW |
10 |
19,943,666 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2418:Map3k5
|
UTSW |
10 |
19,986,603 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2513:Map3k5
|
UTSW |
10 |
19,970,201 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3014:Map3k5
|
UTSW |
10 |
19,970,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3770:Map3k5
|
UTSW |
10 |
19,900,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3814:Map3k5
|
UTSW |
10 |
19,901,936 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3814:Map3k5
|
UTSW |
10 |
20,016,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4706:Map3k5
|
UTSW |
10 |
19,934,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Map3k5
|
UTSW |
10 |
20,007,798 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4903:Map3k5
|
UTSW |
10 |
19,994,235 (GRCm39) |
missense |
probably null |
1.00 |
|
R4958:Map3k5
|
UTSW |
10 |
19,899,535 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5065:Map3k5
|
UTSW |
10 |
19,958,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5210:Map3k5
|
UTSW |
10 |
19,900,647 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5245:Map3k5
|
UTSW |
10 |
20,016,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5304:Map3k5
|
UTSW |
10 |
19,983,984 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5428:Map3k5
|
UTSW |
10 |
19,899,399 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5566:Map3k5
|
UTSW |
10 |
19,986,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5914:Map3k5
|
UTSW |
10 |
19,980,001 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6155:Map3k5
|
UTSW |
10 |
19,994,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6161:Map3k5
|
UTSW |
10 |
19,876,321 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6191:Map3k5
|
UTSW |
10 |
19,899,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6251:Map3k5
|
UTSW |
10 |
20,014,006 (GRCm39) |
splice site |
probably null |
|
|
R6800:Map3k5
|
UTSW |
10 |
20,017,326 (GRCm39) |
makesense |
probably null |
|
|
R7304:Map3k5
|
UTSW |
10 |
19,975,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7722:Map3k5
|
UTSW |
10 |
20,007,891 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8058:Map3k5
|
UTSW |
10 |
20,007,860 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8207:Map3k5
|
UTSW |
10 |
19,986,612 (GRCm39) |
frame shift |
probably null |
|
|
R8827:Map3k5
|
UTSW |
10 |
19,902,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8977:Map3k5
|
UTSW |
10 |
19,955,000 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9490:Map3k5
|
UTSW |
10 |
20,007,797 (GRCm39) |
missense |
probably benign |
|
|
R9570:Map3k5
|
UTSW |
10 |
19,876,314 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9784:Map3k5
|
UTSW |
10 |
19,810,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF024:Map3k5
|
UTSW |
10 |
19,975,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0017:Map3k5
|
UTSW |
10 |
19,994,180 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAACCTCTTGAACTCTCCCTG -3'
(R):5'- TTTTAAAGGCAACAAGGGCTC -3'
Sequencing Primer
(F):5'- GCAGCTGTTTTAAGTGCCACAAC -3'
(R):5'- CAAGGGCTCTTAAAAACACTGAAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation