Incidental Mutation 'IGL02150:Map2k7'
ID |
281943 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Map2k7
|
Ensembl Gene |
ENSMUSG00000002948 |
Gene Name |
mitogen-activated protein kinase kinase 7 |
Synonyms |
Prkmk7, sek2, MAP kinase kinase 7, 5930412N11Rik, MKK7, Jnkk2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02150
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
4288740-4297897 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4293818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 153
(M153V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117418
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003027]
[ENSMUST00000062686]
[ENSMUST00000110993]
[ENSMUST00000110994]
[ENSMUST00000110995]
[ENSMUST00000110996]
[ENSMUST00000145165]
[ENSMUST00000110998]
[ENSMUST00000110999]
[ENSMUST00000129866]
|
AlphaFold |
Q8CE90 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003027
AA Change: M153V
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000003027 Gene: ENSMUSG00000002948 AA Change: M153V
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
69 |
89 |
N/A |
INTRINSIC |
S_TKc
|
136 |
396 |
8.43e-72 |
SMART |
low complexity region
|
435 |
455 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062686
AA Change: M153V
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000054512 Gene: ENSMUSG00000002948 AA Change: M153V
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
69 |
89 |
N/A |
INTRINSIC |
S_TKc
|
136 |
396 |
8.43e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110993
|
SMART Domains |
Protein: ENSMUSP00000106621 Gene: ENSMUSG00000089736
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
12 |
N/A |
INTRINSIC |
Pfam:Zona_pellucida
|
16 |
161 |
6.6e-15 |
PFAM |
low complexity region
|
210 |
224 |
N/A |
INTRINSIC |
low complexity region
|
227 |
263 |
N/A |
INTRINSIC |
low complexity region
|
269 |
276 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110994
AA Change: M64V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000106622 Gene: ENSMUSG00000002948 AA Change: M64V
Domain | Start | End | E-Value | Type |
S_TKc
|
47 |
307 |
8.43e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110995
AA Change: M64V
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000106623 Gene: ENSMUSG00000002948 AA Change: M64V
Domain | Start | End | E-Value | Type |
S_TKc
|
47 |
307 |
8.43e-72 |
SMART |
low complexity region
|
346 |
366 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110996
AA Change: M109V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000106624 Gene: ENSMUSG00000002948 AA Change: M109V
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
45 |
N/A |
INTRINSIC |
S_TKc
|
92 |
352 |
8.43e-72 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145165
AA Change: M153V
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000117418 Gene: ENSMUSG00000109061 AA Change: M153V
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
69 |
89 |
N/A |
INTRINSIC |
S_TKc
|
136 |
396 |
8.43e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110998
AA Change: M137V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000106626 Gene: ENSMUSG00000002948 AA Change: M137V
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
low complexity region
|
53 |
73 |
N/A |
INTRINSIC |
S_TKc
|
120 |
380 |
8.43e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110999
AA Change: M137V
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000106627 Gene: ENSMUSG00000002948 AA Change: M137V
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
36 |
47 |
N/A |
INTRINSIC |
low complexity region
|
53 |
73 |
N/A |
INTRINSIC |
S_TKc
|
120 |
380 |
8.43e-72 |
SMART |
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207247
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129866
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124750
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] PHENOTYPE: Mice homozygous for disruptions in this gene die during embryogenesis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankdd1a |
C |
T |
9: 65,420,001 (GRCm39) |
G92S |
probably damaging |
Het |
Arid1a |
A |
T |
4: 133,414,568 (GRCm39) |
M1221K |
unknown |
Het |
Arl10 |
G |
A |
13: 54,726,662 (GRCm39) |
V147M |
probably damaging |
Het |
Bbs4 |
T |
C |
9: 59,243,651 (GRCm39) |
N152S |
probably benign |
Het |
Cacna2d2 |
T |
G |
9: 107,404,515 (GRCm39) |
|
probably benign |
Het |
Capn9 |
A |
G |
8: 125,340,582 (GRCm39) |
E582G |
probably benign |
Het |
Cct2 |
A |
T |
10: 116,898,004 (GRCm39) |
L61Q |
probably damaging |
Het |
Clip4 |
A |
G |
17: 72,106,071 (GRCm39) |
I85V |
probably damaging |
Het |
Daam2 |
A |
T |
17: 49,797,332 (GRCm39) |
L151Q |
possibly damaging |
Het |
Dlst |
T |
A |
12: 85,177,807 (GRCm39) |
I400N |
possibly damaging |
Het |
Dock7 |
A |
T |
4: 98,968,089 (GRCm39) |
|
probably benign |
Het |
Dynlrb2 |
A |
G |
8: 117,242,449 (GRCm39) |
N93S |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,335,899 (GRCm39) |
T407A |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,077,517 (GRCm39) |
D891G |
possibly damaging |
Het |
Enpp4 |
A |
C |
17: 44,413,049 (GRCm39) |
S162A |
probably benign |
Het |
Epas1 |
A |
G |
17: 87,112,717 (GRCm39) |
D105G |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,846,204 (GRCm39) |
Y965* |
probably null |
Het |
Gcn1 |
T |
A |
5: 115,747,927 (GRCm39) |
I1778N |
probably damaging |
Het |
Gm14496 |
A |
C |
2: 181,633,140 (GRCm39) |
D41A |
probably damaging |
Het |
Gm7008 |
T |
A |
12: 40,273,257 (GRCm39) |
|
probably benign |
Het |
Hcfc2 |
G |
A |
10: 82,545,852 (GRCm39) |
S246N |
probably damaging |
Het |
Hectd1 |
T |
C |
12: 51,815,974 (GRCm39) |
N1366S |
probably damaging |
Het |
Lgmn |
T |
C |
12: 102,361,986 (GRCm39) |
R372G |
possibly damaging |
Het |
Megf8 |
T |
A |
7: 25,045,842 (GRCm39) |
|
probably null |
Het |
Mgat4c |
A |
C |
10: 102,224,983 (GRCm39) |
E399A |
probably benign |
Het |
Myorg |
A |
G |
4: 41,499,183 (GRCm39) |
V149A |
possibly damaging |
Het |
Nfat5 |
C |
T |
8: 108,094,584 (GRCm39) |
Q942* |
probably null |
Het |
Notch4 |
A |
G |
17: 34,803,587 (GRCm39) |
E1502G |
probably damaging |
Het |
Optn |
A |
C |
2: 5,037,963 (GRCm39) |
I410M |
probably damaging |
Het |
Or6b9 |
G |
T |
7: 106,555,763 (GRCm39) |
P127T |
probably damaging |
Het |
Or8c17 |
A |
T |
9: 38,180,564 (GRCm39) |
I252L |
possibly damaging |
Het |
Ppp1ca |
G |
A |
19: 4,244,698 (GRCm39) |
|
probably benign |
Het |
Pramel5 |
C |
A |
4: 143,999,771 (GRCm39) |
L105F |
possibly damaging |
Het |
Rad54b |
T |
A |
4: 11,610,502 (GRCm39) |
N706K |
probably damaging |
Het |
Rgs11 |
A |
T |
17: 26,421,968 (GRCm39) |
T6S |
probably benign |
Het |
Sbf1 |
T |
C |
15: 89,179,683 (GRCm39) |
H1308R |
probably benign |
Het |
Scart2 |
G |
A |
7: 139,877,772 (GRCm39) |
G918D |
possibly damaging |
Het |
Sec31a |
T |
C |
5: 100,533,984 (GRCm39) |
|
probably benign |
Het |
Sh2d5 |
G |
A |
4: 137,985,553 (GRCm39) |
D334N |
probably benign |
Het |
Skint5 |
T |
A |
4: 113,742,988 (GRCm39) |
I360F |
unknown |
Het |
Slc12a1 |
G |
A |
2: 125,026,735 (GRCm39) |
D457N |
probably damaging |
Het |
Slco2a1 |
C |
T |
9: 102,962,017 (GRCm39) |
A563V |
probably damaging |
Het |
Snrnp35 |
G |
A |
5: 124,628,471 (GRCm39) |
A95T |
probably damaging |
Het |
Snx25 |
C |
A |
8: 46,569,318 (GRCm39) |
R193L |
possibly damaging |
Het |
Stxbp5 |
T |
G |
10: 9,638,565 (GRCm39) |
Q1078P |
probably damaging |
Het |
Tmc2 |
A |
T |
2: 130,082,073 (GRCm39) |
I419F |
probably damaging |
Het |
Tmem87a |
A |
T |
2: 120,190,557 (GRCm39) |
W525R |
probably damaging |
Het |
Trhde |
A |
T |
10: 114,428,013 (GRCm39) |
S428T |
probably damaging |
Het |
Trp73 |
G |
A |
4: 154,165,943 (GRCm39) |
A42V |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,679,316 (GRCm39) |
|
probably benign |
Het |
Ttn |
C |
T |
2: 76,598,846 (GRCm39) |
V19356M |
probably damaging |
Het |
Vmn1r170 |
T |
A |
7: 23,306,465 (GRCm39) |
L289* |
probably null |
Het |
Vwa5b2 |
A |
T |
16: 20,423,576 (GRCm39) |
Q1163L |
probably benign |
Het |
Washc2 |
T |
A |
6: 116,208,593 (GRCm39) |
|
probably benign |
Het |
Wdr70 |
T |
G |
15: 8,112,030 (GRCm39) |
K71T |
possibly damaging |
Het |
Zbtb41 |
T |
C |
1: 139,368,186 (GRCm39) |
S625P |
possibly damaging |
Het |
Zfp518b |
A |
G |
5: 38,830,686 (GRCm39) |
S440P |
probably damaging |
Het |
Zfp518b |
A |
G |
5: 38,831,132 (GRCm39) |
V291A |
probably damaging |
Het |
Zmym2 |
G |
A |
14: 57,148,526 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Map2k7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01997:Map2k7
|
APN |
8 |
4,293,442 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02024:Map2k7
|
APN |
8 |
4,297,663 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02086:Map2k7
|
APN |
8 |
4,288,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R1583:Map2k7
|
UTSW |
8 |
4,293,621 (GRCm39) |
critical splice donor site |
probably null |
|
R1916:Map2k7
|
UTSW |
8 |
4,295,795 (GRCm39) |
missense |
probably benign |
0.19 |
R2996:Map2k7
|
UTSW |
8 |
4,293,775 (GRCm39) |
missense |
probably benign |
0.04 |
R4014:Map2k7
|
UTSW |
8 |
4,297,663 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4868:Map2k7
|
UTSW |
8 |
4,297,751 (GRCm39) |
intron |
probably benign |
|
R5357:Map2k7
|
UTSW |
8 |
4,294,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R5768:Map2k7
|
UTSW |
8 |
4,295,757 (GRCm39) |
missense |
probably benign |
0.01 |
R6997:Map2k7
|
UTSW |
8 |
4,294,035 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7814:Map2k7
|
UTSW |
8 |
4,293,744 (GRCm39) |
missense |
probably benign |
0.02 |
R8193:Map2k7
|
UTSW |
8 |
4,294,059 (GRCm39) |
missense |
probably benign |
0.16 |
R8855:Map2k7
|
UTSW |
8 |
4,293,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R9455:Map2k7
|
UTSW |
8 |
4,293,957 (GRCm39) |
missense |
probably damaging |
0.99 |
R9708:Map2k7
|
UTSW |
8 |
4,295,806 (GRCm39) |
missense |
probably benign |
0.33 |
|
Posted On |
2015-04-16 |