Incidental Mutation 'IGL02024:Map2k7'
ID |
184076 |
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 # |
IGL02024
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
4288740-4297897 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4297663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 421
(S421R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003027]
[ENSMUST00000062686]
[ENSMUST00000110993]
[ENSMUST00000110994]
[ENSMUST00000110995]
[ENSMUST00000110996]
[ENSMUST00000110998]
[ENSMUST00000110999]
[ENSMUST00000129866]
[ENSMUST00000145165]
|
AlphaFold |
Q8CE90 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003027
AA Change: S437R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000003027 Gene: ENSMUSG00000002948 AA Change: S437R
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 |
probably benign
Transcript: ENSMUST00000062686
|
SMART Domains |
Protein: ENSMUSP00000054512 Gene: ENSMUSG00000002948
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
|
SMART Domains |
Protein: ENSMUSP00000106622 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
S_TKc
|
47 |
307 |
8.43e-72 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000110995
AA Change: S348R
|
SMART Domains |
Protein: ENSMUSP00000106623 Gene: ENSMUSG00000002948 AA Change: S348R
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
|
SMART Domains |
Protein: ENSMUSP00000106624 Gene: ENSMUSG00000002948
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
45 |
N/A |
INTRINSIC |
S_TKc
|
92 |
352 |
8.43e-72 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110998
|
SMART Domains |
Protein: ENSMUSP00000106626 Gene: ENSMUSG00000002948
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 |
possibly damaging
Transcript: ENSMUST00000110999
AA Change: S421R
PolyPhen 2
Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000106627 Gene: ENSMUSG00000002948 AA Change: S421R
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 |
noncoding transcript
Transcript: ENSMUST00000129537
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142865
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208029
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124750
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209051
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129866
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145165
|
SMART Domains |
Protein: ENSMUSP00000117418 Gene: ENSMUSG00000109061
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 |
|
Meta Mutation Damage Score |
0.1795 |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
G |
A |
6: 23,113,705 (GRCm39) |
H246Y |
probably damaging |
Het |
Abat |
G |
A |
16: 8,429,000 (GRCm39) |
A322T |
probably damaging |
Het |
Bcat1 |
A |
G |
6: 144,978,564 (GRCm39) |
V152A |
probably damaging |
Het |
Btaf1 |
A |
G |
19: 36,969,826 (GRCm39) |
|
probably benign |
Het |
Elavl2 |
T |
C |
4: 91,141,776 (GRCm39) |
T291A |
probably benign |
Het |
Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
Fcgbp |
G |
A |
7: 27,805,799 (GRCm39) |
C2026Y |
probably damaging |
Het |
Fcgrt |
T |
A |
7: 44,744,682 (GRCm39) |
H258L |
probably damaging |
Het |
Galnt6 |
C |
T |
15: 100,601,374 (GRCm39) |
D302N |
probably benign |
Het |
Gldc |
T |
A |
19: 30,078,227 (GRCm39) |
R923S |
probably damaging |
Het |
Hspg2 |
G |
T |
4: 137,267,384 (GRCm39) |
A2033S |
probably damaging |
Het |
Htr2c |
T |
A |
X: 145,858,921 (GRCm39) |
M77K |
probably damaging |
Het |
Ifi208 |
A |
G |
1: 173,510,856 (GRCm39) |
Y337C |
probably damaging |
Het |
Ints11 |
G |
T |
4: 155,972,972 (GRCm39) |
W554L |
probably damaging |
Het |
Itgbl1 |
T |
A |
14: 124,094,904 (GRCm39) |
C186S |
probably damaging |
Het |
Lipf |
A |
G |
19: 33,953,995 (GRCm39) |
Y362C |
probably damaging |
Het |
Mroh9 |
T |
G |
1: 162,890,071 (GRCm39) |
N222T |
possibly damaging |
Het |
Msl3 |
C |
A |
X: 167,453,247 (GRCm39) |
R89L |
probably benign |
Het |
Nrip1 |
T |
A |
16: 76,088,563 (GRCm39) |
D998V |
probably benign |
Het |
Nrk |
T |
A |
X: 137,896,678 (GRCm39) |
I1265N |
probably damaging |
Het |
Ntn5 |
A |
G |
7: 45,340,830 (GRCm39) |
|
probably benign |
Het |
Or11g27 |
A |
G |
14: 50,771,307 (GRCm39) |
N146S |
probably benign |
Het |
Or5w20 |
A |
T |
2: 87,727,243 (GRCm39) |
R233S |
possibly damaging |
Het |
Or6s1 |
T |
G |
14: 51,308,766 (GRCm39) |
E28A |
probably benign |
Het |
Plch2 |
T |
C |
4: 155,127,595 (GRCm39) |
|
probably benign |
Het |
Porcn |
C |
T |
X: 8,067,901 (GRCm39) |
V233I |
probably benign |
Het |
Ppp2r2a |
T |
C |
14: 67,276,361 (GRCm39) |
K48R |
probably benign |
Het |
Ppp4r3c1 |
G |
A |
X: 88,975,129 (GRCm39) |
T356I |
probably benign |
Het |
Rccd1 |
A |
T |
7: 79,968,755 (GRCm39) |
D268E |
probably benign |
Het |
Sacs |
C |
A |
14: 61,427,127 (GRCm39) |
S178R |
probably damaging |
Het |
Samd12 |
T |
A |
15: 53,521,862 (GRCm39) |
D116V |
probably damaging |
Het |
Slc12a8 |
A |
G |
16: 33,428,568 (GRCm39) |
E46G |
probably damaging |
Het |
Slc30a10 |
A |
T |
1: 185,187,438 (GRCm39) |
I60F |
possibly damaging |
Het |
Slc6a8 |
C |
T |
X: 72,722,583 (GRCm39) |
|
probably benign |
Het |
Sos2 |
A |
G |
12: 69,664,822 (GRCm39) |
|
probably benign |
Het |
Tbc1d31 |
T |
C |
15: 57,783,338 (GRCm39) |
V79A |
probably benign |
Het |
Tmem184c |
A |
T |
8: 78,331,443 (GRCm39) |
V102E |
probably benign |
Het |
Ttc19 |
G |
T |
11: 62,203,939 (GRCm39) |
R300I |
probably damaging |
Het |
Unc5d |
T |
A |
8: 29,142,855 (GRCm39) |
I866F |
probably benign |
Het |
Vmn1r7 |
A |
T |
6: 57,001,874 (GRCm39) |
C129S |
probably benign |
Het |
Vps41 |
T |
A |
13: 18,975,827 (GRCm39) |
|
probably benign |
Het |
Vwa8 |
C |
T |
14: 79,331,724 (GRCm39) |
A1275V |
possibly damaging |
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 |
IGL02086:Map2k7
|
APN |
8 |
4,288,950 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02150:Map2k7
|
APN |
8 |
4,293,818 (GRCm39) |
missense |
possibly damaging |
0.49 |
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 |
2014-05-07 |