Incidental Mutation 'R5768:Map2k7'
| ID |
446386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map2k7
|
| Ensembl Gene |
ENSMUSG00000002948 |
| Gene Name |
mitogen-activated protein kinase kinase 7 |
| Synonyms |
Prkmk7, sek2, MAP kinase kinase 7, 5930412N11Rik, MKK7, Jnkk2 |
| MMRRC Submission |
043368-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5768 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
4288740-4297897 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4295757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 368
(D368E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003027]
[ENSMUST00000062686]
[ENSMUST00000110993]
[ENSMUST00000110994]
[ENSMUST00000110995]
[ENSMUST00000110996]
[ENSMUST00000110998]
[ENSMUST00000129866]
[ENSMUST00000145165]
[ENSMUST00000110999]
|
| AlphaFold |
Q8CE90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003027
AA Change: D412E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000003027
Gene: ENSMUSG00000002948
AA Change: D412E
| 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
AA Change: D412E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000054512
Gene: ENSMUSG00000002948
AA Change: D412E
| 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: D323E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106622
Gene: ENSMUSG00000002948
AA Change: D323E
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
47 |
307 |
8.43e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110995
AA Change: D323E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106623
Gene: ENSMUSG00000002948
AA Change: D323E
| 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: D368E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000106624
Gene: ENSMUSG00000002948
AA Change: D368E
| 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
AA Change: D396E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106626
Gene: ENSMUSG00000002948
AA Change: D396E
| 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 |
noncoding transcript
Transcript: ENSMUST00000129537
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129866
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145165
AA Change: D412E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117418
Gene: ENSMUSG00000109061
AA Change: D412E
| 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: ENSMUST00000110999
AA Change: D396E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106627
Gene: ENSMUSG00000002948
AA Change: D396E
| 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: ENSMUST00000124750
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209051
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142865
|
| Meta Mutation Damage Score |
0.0585 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
98% (59/60) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
G |
A |
5: 8,177,426 (GRCm39) |
T561I |
probably benign |
Het |
| Akp3 |
T |
C |
1: 87,054,844 (GRCm39) |
I393T |
probably damaging |
Het |
| Atxn10 |
A |
T |
15: 85,277,621 (GRCm39) |
I363F |
probably benign |
Het |
| BC004004 |
A |
T |
17: 29,501,709 (GRCm39) |
S83C |
probably damaging |
Het |
| Bin1 |
T |
A |
18: 32,559,264 (GRCm39) |
|
probably null |
Het |
| Cacna1c |
A |
G |
6: 118,674,641 (GRCm39) |
I541T |
probably damaging |
Het |
| Cand1 |
A |
G |
10: 119,046,910 (GRCm39) |
V860A |
probably benign |
Het |
| Ccdc69 |
T |
C |
11: 54,945,856 (GRCm39) |
N50S |
possibly damaging |
Het |
| Cd209d |
T |
A |
8: 3,921,968 (GRCm39) |
T235S |
probably benign |
Het |
| Cdhr3 |
G |
T |
12: 33,096,685 (GRCm39) |
T591K |
possibly damaging |
Het |
| Cherp |
C |
T |
8: 73,216,957 (GRCm39) |
D658N |
probably damaging |
Het |
| Clip4 |
T |
A |
17: 72,113,494 (GRCm39) |
|
probably null |
Het |
| Cryzl1 |
C |
T |
16: 91,492,242 (GRCm39) |
V195M |
probably damaging |
Het |
| Cst11 |
A |
T |
2: 148,612,387 (GRCm39) |
Y83* |
probably null |
Het |
| Ddb2 |
T |
C |
2: 91,042,337 (GRCm39) |
S419G |
possibly damaging |
Het |
| Ddi2 |
A |
T |
4: 141,412,901 (GRCm39) |
L4M |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,055,826 (GRCm39) |
P393T |
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,935,660 (GRCm39) |
|
probably null |
Het |
| Elf5 |
C |
T |
2: 103,279,367 (GRCm39) |
S196L |
probably damaging |
Het |
| Eps15 |
C |
G |
4: 109,220,373 (GRCm39) |
|
probably null |
Het |
| Fra10ac1 |
T |
C |
19: 38,195,734 (GRCm39) |
E163G |
probably benign |
Het |
| Gc |
T |
C |
5: 89,589,125 (GRCm39) |
T213A |
probably damaging |
Het |
| Grpel1 |
A |
T |
5: 36,622,503 (GRCm39) |
|
probably benign |
Het |
| Gsdme |
G |
A |
6: 50,196,280 (GRCm39) |
Q377* |
probably null |
Het |
| Hira |
T |
C |
16: 18,753,768 (GRCm39) |
|
probably benign |
Het |
| Hsd11b1 |
T |
A |
1: 192,922,554 (GRCm39) |
I168F |
probably damaging |
Het |
| Htr6 |
G |
A |
4: 138,789,015 (GRCm39) |
R347W |
probably damaging |
Het |
| Ipp |
A |
C |
4: 116,367,967 (GRCm39) |
T67P |
probably damaging |
Het |
| Lrfn5 |
G |
A |
12: 61,886,509 (GRCm39) |
R99Q |
probably benign |
Het |
| Madd |
T |
A |
2: 90,998,174 (GRCm39) |
I649F |
probably damaging |
Het |
| Mppe1 |
T |
G |
18: 67,358,889 (GRCm39) |
T360P |
possibly damaging |
Het |
| Msi2 |
A |
G |
11: 88,608,564 (GRCm39) |
F2L |
probably damaging |
Het |
| Nectin3 |
T |
C |
16: 46,279,180 (GRCm39) |
Q266R |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,532,883 (GRCm39) |
H691R |
probably benign |
Het |
| Oprm1 |
G |
A |
10: 6,739,026 (GRCm39) |
G51D |
probably damaging |
Het |
| Or4c117 |
T |
C |
2: 88,955,793 (GRCm39) |
E94G |
probably benign |
Het |
| Or5ac15 |
TGAAGAAGAA |
TGAAGAA |
16: 58,940,335 (GRCm39) |
|
probably benign |
Het |
| Papss2 |
G |
A |
19: 32,638,119 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
T |
C |
16: 17,172,736 (GRCm39) |
K549E |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,208,116 (GRCm39) |
T596A |
probably benign |
Het |
| Polr2f |
A |
G |
15: 79,035,845 (GRCm39) |
D117G |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,301,178 (GRCm39) |
E381G |
possibly damaging |
Het |
| Rfx6 |
G |
A |
10: 51,602,976 (GRCm39) |
R831H |
probably damaging |
Het |
| Rpp25l |
A |
T |
4: 41,712,649 (GRCm39) |
L42Q |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,583,442 (GRCm39) |
M2810V |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,129,626 (GRCm39) |
L1616I |
probably benign |
Het |
| Spock2 |
T |
A |
10: 59,962,029 (GRCm39) |
F215I |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,353,488 (GRCm39) |
E976V |
unknown |
Het |
| Tgfbr3 |
T |
C |
5: 107,297,761 (GRCm39) |
E213G |
probably benign |
Het |
| Tmed1 |
T |
C |
9: 21,420,619 (GRCm39) |
D71G |
probably benign |
Het |
| Tmtc4 |
T |
A |
14: 123,170,565 (GRCm39) |
K527N |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,311,822 (GRCm39) |
T291A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTACTTGTGAGTACCTCTCC -3'
(R):5'- TTTTGTCCACAGCTGGTAGGC -3'
Sequencing Primer
(F):5'- GTGAGTACCTCTCCCCCAAC -3'
(R):5'- CATGAGGCTACCTGAAGA -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation