Incidental Mutation 'R5712:Mknk1'
| ID |
450928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mknk1
|
| Ensembl Gene |
ENSMUSG00000028708 |
| Gene Name |
MAP kinase-interacting serine/threonine kinase 1 |
| Synonyms |
2410048M24Rik, Mnk1 |
| MMRRC Submission |
043334-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5712 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115696395-115736447 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 115712203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019677]
[ENSMUST00000106513]
[ENSMUST00000130819]
[ENSMUST00000140315]
[ENSMUST00000144427]
[ENSMUST00000151203]
[ENSMUST00000151203]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019677
|
| SMART Domains |
Protein: ENSMUSP00000019677
Gene: ENSMUSG00000028708
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
21 |
N/A |
INTRINSIC |
|
S_TKc
|
37 |
321 |
2.01e-87 |
SMART |
|
low complexity region
|
363 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106513
|
| SMART Domains |
Protein: ENSMUSP00000102123
Gene: ENSMUSG00000028708
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
21 |
N/A |
INTRINSIC |
|
S_TKc
|
37 |
321 |
2.01e-87 |
SMART |
|
low complexity region
|
363 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
404 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130819
|
| SMART Domains |
Protein: ENSMUSP00000118071
Gene: ENSMUSG00000028708
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
21 |
N/A |
INTRINSIC |
|
STYKc
|
37 |
140 |
4e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140315
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140585
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144235
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144427
|
| SMART Domains |
Protein: ENSMUSP00000117261
Gene: ENSMUSG00000028708
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
21 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
37 |
101 |
1.1e-7 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151203
|
| SMART Domains |
Protein: ENSMUSP00000114941
Gene: ENSMUSG00000028708
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
21 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
37 |
114 |
4.7e-12 |
PFAM |
|
Pfam:Pkinase_Tyr
|
38 |
114 |
7.8e-7 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151203
|
| SMART Domains |
Protein: ENSMUSP00000114941
Gene: ENSMUSG00000028708
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
21 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
37 |
114 |
4.7e-12 |
PFAM |
|
Pfam:Pkinase_Tyr
|
38 |
114 |
7.8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153766
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152888
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a serine-threonine protein kinase that is activated by extracellular signal-regulated kinase or p38 mitogen-activated protein kinases, and it may function in cytokine and environmental stress responses. This kinase is required for phosphorylation of eukaryotic translation initiation factor 4E but it is not required for cell growth during development. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygous null mice are viable and fertile with no gross abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,981,563 (GRCm39) |
T133A |
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,626,715 (GRCm39) |
E708K |
probably damaging |
Het |
| Alkbh1 |
A |
G |
12: 87,475,883 (GRCm39) |
C300R |
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,675,646 (GRCm39) |
N52D |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,959,297 (GRCm39) |
S2225T |
probably damaging |
Het |
| Aspn |
A |
T |
13: 49,716,995 (GRCm39) |
Y257F |
probably damaging |
Het |
| Atp2b4 |
A |
C |
1: 133,658,278 (GRCm39) |
V544G |
probably damaging |
Het |
| Bclaf1 |
T |
G |
10: 20,209,277 (GRCm39) |
Y498D |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,796,954 (GRCm39) |
I1520T |
probably damaging |
Het |
| Castor1 |
T |
C |
11: 4,168,378 (GRCm39) |
L22P |
probably damaging |
Het |
| Cfap57 |
G |
T |
4: 118,471,992 (GRCm39) |
P129Q |
probably damaging |
Het |
| Clcn3 |
A |
G |
8: 61,390,332 (GRCm39) |
|
probably null |
Het |
| Epx |
A |
T |
11: 87,765,679 (GRCm39) |
Y93* |
probably null |
Het |
| Erich6b |
T |
A |
14: 75,896,340 (GRCm39) |
D75E |
possibly damaging |
Het |
| Exoc3l4 |
T |
A |
12: 111,390,476 (GRCm39) |
Y350* |
probably null |
Het |
| Fam13a |
T |
A |
6: 58,933,684 (GRCm39) |
D302V |
probably damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Fga |
C |
T |
3: 82,940,440 (GRCm39) |
T698I |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,839,192 (GRCm39) |
S6987P |
possibly damaging |
Het |
| Gbp9 |
T |
A |
5: 105,242,421 (GRCm39) |
N106I |
possibly damaging |
Het |
| Gls |
T |
A |
1: 52,235,911 (GRCm39) |
K401N |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,291,254 (GRCm39) |
K146E |
probably damaging |
Het |
| Gpr3 |
A |
G |
4: 132,937,719 (GRCm39) |
S318P |
probably benign |
Het |
| Kbtbd7 |
T |
C |
14: 79,666,205 (GRCm39) |
V679A |
possibly damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,409,678 (GRCm39) |
L127H |
probably damaging |
Het |
| Lck |
G |
T |
4: 129,450,103 (GRCm39) |
H214Q |
probably benign |
Het |
| Lrch4 |
A |
C |
5: 137,636,188 (GRCm39) |
S380R |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,586,425 (GRCm39) |
K414* |
probably null |
Het |
| Maco1 |
A |
T |
4: 134,555,369 (GRCm39) |
M368K |
probably benign |
Het |
| Med11 |
A |
G |
11: 70,344,058 (GRCm39) |
E126G |
probably damaging |
Het |
| Mst1 |
T |
C |
9: 107,960,107 (GRCm39) |
C355R |
probably damaging |
Het |
| Mtcl2 |
T |
A |
2: 156,872,841 (GRCm39) |
E890V |
probably damaging |
Het |
| Myl10 |
T |
C |
5: 136,723,092 (GRCm39) |
F14L |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,325,932 (GRCm39) |
T1125M |
probably benign |
Het |
| Nin |
T |
C |
12: 70,089,543 (GRCm39) |
T1291A |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,265,105 (GRCm39) |
Q335R |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,638,888 (GRCm39) |
T83A |
probably damaging |
Het |
| Rdh19 |
T |
A |
10: 127,692,756 (GRCm39) |
M141K |
probably benign |
Het |
| Rnf17 |
G |
A |
14: 56,708,856 (GRCm39) |
V759I |
probably benign |
Het |
| Sirt7 |
A |
T |
11: 120,511,677 (GRCm39) |
Y18* |
probably null |
Het |
| Slc27a5 |
T |
C |
7: 12,732,010 (GRCm39) |
|
probably benign |
Het |
| Synpo2 |
T |
A |
3: 122,914,859 (GRCm39) |
I56F |
probably damaging |
Het |
| Tdrd6 |
C |
A |
17: 43,937,299 (GRCm39) |
G1250C |
probably damaging |
Het |
| Tmem190 |
G |
A |
7: 4,787,288 (GRCm39) |
G164D |
probably damaging |
Het |
| Tmigd1 |
T |
C |
11: 76,797,858 (GRCm39) |
Y67H |
probably damaging |
Het |
| Trim3 |
T |
A |
7: 105,268,743 (GRCm39) |
E70D |
probably damaging |
Het |
| Uap1 |
A |
G |
1: 169,994,414 (GRCm39) |
F21L |
possibly damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,925 (GRCm39) |
V76D |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,813,743 (GRCm39) |
S3245A |
probably benign |
Het |
| Wnt7a |
T |
C |
6: 91,343,186 (GRCm39) |
Y232C |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,398,360 (GRCm39) |
V4224A |
unknown |
Het |
|
| Other mutations in Mknk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01629:Mknk1
|
APN |
4 |
115,732,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02538:Mknk1
|
APN |
4 |
115,717,288 (GRCm39) |
nonsense |
probably null |
|
|
IGL02927:Mknk1
|
APN |
4 |
115,714,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1845:Mknk1
|
UTSW |
4 |
115,730,428 (GRCm39) |
nonsense |
probably null |
|
|
R1943:Mknk1
|
UTSW |
4 |
115,720,223 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2278:Mknk1
|
UTSW |
4 |
115,732,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4027:Mknk1
|
UTSW |
4 |
115,721,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4604:Mknk1
|
UTSW |
4 |
115,735,224 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4833:Mknk1
|
UTSW |
4 |
115,735,383 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5400:Mknk1
|
UTSW |
4 |
115,721,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5400:Mknk1
|
UTSW |
4 |
115,721,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Mknk1
|
UTSW |
4 |
115,733,834 (GRCm39) |
splice site |
probably benign |
|
|
R7038:Mknk1
|
UTSW |
4 |
115,714,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7146:Mknk1
|
UTSW |
4 |
115,721,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7606:Mknk1
|
UTSW |
4 |
115,735,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7747:Mknk1
|
UTSW |
4 |
115,735,269 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8726:Mknk1
|
UTSW |
4 |
115,730,506 (GRCm39) |
splice site |
probably benign |
|
|
R9508:Mknk1
|
UTSW |
4 |
115,732,579 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0050:Mknk1
|
UTSW |
4 |
115,714,252 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAACTAGAGTGTGGTCCGCC -3'
(R):5'- GGGGACTCGCAGACATACTTAC -3'
Sequencing Primer
(F):5'- TAGAGTGTGGTCCGCCTCATC -3'
(R):5'- TCGCAGACATACTTACAGCTCTGG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation