Incidental Mutation 'R4014:Map2k7'
| ID |
311864 |
| 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 |
040951-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4014 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
|
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (49/49) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,811,559 (GRCm39) |
Q1008L |
probably benign |
Het |
| Adgrg7 |
A |
G |
16: 56,562,651 (GRCm39) |
F562S |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,655,334 (GRCm39) |
N3293K |
probably benign |
Het |
| Cdk20 |
T |
A |
13: 64,585,319 (GRCm39) |
V201D |
probably benign |
Het |
| Cenpf |
A |
G |
1: 189,385,356 (GRCm39) |
V2308A |
probably benign |
Het |
| Chek1 |
T |
C |
9: 36,634,050 (GRCm39) |
|
probably benign |
Het |
| Ciz1 |
G |
T |
2: 32,264,356 (GRCm39) |
E497D |
probably damaging |
Het |
| Clcn6 |
A |
G |
4: 148,102,067 (GRCm39) |
F339S |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
| Dennd5a |
C |
T |
7: 109,534,688 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
G |
A |
18: 49,997,029 (GRCm39) |
V442I |
probably benign |
Het |
| Dmxl2 |
C |
A |
9: 54,285,993 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
A |
G |
12: 117,938,649 (GRCm39) |
I3273T |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,364,045 (GRCm39) |
D4132E |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,230,363 (GRCm39) |
W2327* |
probably null |
Het |
| Epb41 |
A |
T |
4: 131,709,756 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,559,774 (GRCm39) |
V1578I |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,813,862 (GRCm39) |
T3394A |
probably benign |
Het |
| Gabra5 |
C |
T |
7: 57,138,758 (GRCm39) |
D97N |
probably damaging |
Het |
| Habp2 |
A |
G |
19: 56,308,054 (GRCm39) |
E546G |
probably benign |
Het |
| Hace1 |
A |
G |
10: 45,464,470 (GRCm39) |
|
probably benign |
Het |
| Herc4 |
T |
C |
10: 63,123,323 (GRCm39) |
S433P |
probably benign |
Het |
| Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,226,128 (GRCm39) |
G189S |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,860,372 (GRCm39) |
D3038E |
probably damaging |
Het |
| Lmbrd2 |
T |
C |
15: 9,151,672 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,692,996 (GRCm39) |
F3401L |
possibly damaging |
Het |
| Matn1 |
A |
G |
4: 130,679,258 (GRCm39) |
Q304R |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,575,647 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
G |
A |
7: 141,417,367 (GRCm39) |
V3438M |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,468,182 (GRCm39) |
R479G |
possibly damaging |
Het |
| Mzf1 |
A |
G |
7: 12,777,883 (GRCm39) |
V586A |
possibly damaging |
Het |
| Or7g12 |
T |
C |
9: 18,900,178 (GRCm39) |
V298A |
probably benign |
Het |
| Or9g20 |
A |
T |
2: 85,629,820 (GRCm39) |
Y265N |
probably damaging |
Het |
| Pcdhgb7 |
A |
T |
18: 37,885,416 (GRCm39) |
E195D |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,412,822 (GRCm39) |
D199G |
probably benign |
Het |
| Rnf213 |
C |
T |
11: 119,336,555 (GRCm39) |
Q3309* |
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc22a4 |
C |
G |
11: 53,888,218 (GRCm39) |
C270S |
probably benign |
Het |
| Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
T |
C |
13: 65,183,213 (GRCm39) |
S252P |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
| Urb1 |
A |
T |
16: 90,566,353 (GRCm39) |
M1478K |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,822,939 (GRCm39) |
D751G |
probably damaging |
Het |
| Vmn1r214 |
G |
A |
13: 23,219,520 (GRCm39) |
C338Y |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,866 (GRCm39) |
I219M |
possibly damaging |
Het |
| Wwp2 |
A |
G |
8: 108,212,253 (GRCm39) |
N139S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCATTCTGAGGCTGGCC -3'
(R):5'- AGGGTTTTATTCTCAAGCGTCTAAG -3'
Sequencing Primer
(F):5'- CGCAGCATGGCTAGCCTTTG -3'
(R):5'- CTCAAGCGTCTAAGGATTTACAAAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation