Incidental Mutation 'IGL02927:Mknk1'
| ID |
363934 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mknk1
|
| Ensembl Gene |
ENSMUSG00000028708 |
| Gene Name |
MAP kinase-interacting serine/threonine kinase 1 |
| Synonyms |
2410048M24Rik, Mnk1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02927
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
115696395-115736447 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 115714288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 20
(R20C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019677]
[ENSMUST00000106513]
[ENSMUST00000130819]
[ENSMUST00000140315]
[ENSMUST00000144427]
[ENSMUST00000151203]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019677
AA Change: R20C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000019677
Gene: ENSMUSG00000028708
AA Change: R20C
| 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 damaging
Transcript: ENSMUST00000106513
AA Change: R20C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102123
Gene: ENSMUSG00000028708
AA Change: R20C
| 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 damaging
Transcript: ENSMUST00000130819
AA Change: R20C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118071
Gene: ENSMUSG00000028708
AA Change: R20C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
21 |
N/A |
INTRINSIC |
|
STYKc
|
37 |
140 |
4e-4 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140315
AA Change: R20C
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140585
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144235
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144427
AA Change: R20C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117261
Gene: ENSMUSG00000028708
AA Change: R20C
| 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 damaging
Transcript: ENSMUST00000151203
AA Change: R20C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114941
Gene: ENSMUSG00000028708
AA Change: R20C
| 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: ENSMUST00000152888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153766
|
| Coding Region Coverage |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
G |
A |
17: 48,347,729 (GRCm39) |
Q192* |
probably null |
Het |
| Actl7b |
C |
A |
4: 56,740,609 (GRCm39) |
D250Y |
probably damaging |
Het |
| Akr1a1 |
T |
A |
4: 116,495,180 (GRCm39) |
N273I |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,172,431 (GRCm39) |
I1737N |
possibly damaging |
Het |
| Cant1 |
T |
C |
11: 118,301,888 (GRCm39) |
D143G |
probably benign |
Het |
| Cast |
T |
A |
13: 74,885,113 (GRCm39) |
D295V |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,395,143 (GRCm39) |
N851D |
probably damaging |
Het |
| Cntn1 |
G |
A |
15: 92,189,561 (GRCm39) |
R628H |
probably benign |
Het |
| Cul4a |
A |
G |
8: 13,174,861 (GRCm39) |
D279G |
possibly damaging |
Het |
| Cyp2s1 |
T |
C |
7: 25,507,577 (GRCm39) |
K291E |
probably benign |
Het |
| Dhx35 |
A |
T |
2: 158,662,336 (GRCm39) |
I205F |
probably damaging |
Het |
| Dpp8 |
G |
T |
9: 64,967,551 (GRCm39) |
R518L |
probably benign |
Het |
| Gm9 |
A |
G |
X: 36,474,207 (GRCm39) |
I34T |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,453,029 (GRCm39) |
C5429S |
probably damaging |
Het |
| Iqgap2 |
A |
C |
13: 95,861,184 (GRCm39) |
L314R |
possibly damaging |
Het |
| Itgav |
A |
C |
2: 83,625,884 (GRCm39) |
Y810S |
probably damaging |
Het |
| Kcng4 |
G |
T |
8: 120,353,061 (GRCm39) |
P283Q |
probably benign |
Het |
| Lrrn3 |
T |
A |
12: 41,503,343 (GRCm39) |
I325F |
probably damaging |
Het |
| Lzts3 |
A |
G |
2: 130,479,877 (GRCm39) |
|
probably benign |
Het |
| Marchf7 |
T |
C |
2: 60,067,262 (GRCm39) |
I594T |
probably damaging |
Het |
| Matn2 |
A |
T |
15: 34,355,801 (GRCm39) |
I269F |
probably damaging |
Het |
| Matn4 |
A |
G |
2: 164,231,757 (GRCm39) |
F591S |
probably damaging |
Het |
| Mrgbp |
T |
C |
2: 180,226,272 (GRCm39) |
V115A |
probably damaging |
Het |
| Mrgprb8 |
C |
T |
7: 48,038,373 (GRCm39) |
Q15* |
probably null |
Het |
| Naa38 |
T |
C |
11: 69,286,743 (GRCm39) |
L9P |
probably damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or13a19 |
T |
A |
7: 139,902,654 (GRCm39) |
L14Q |
probably damaging |
Het |
| Or2y3 |
T |
A |
17: 38,393,114 (GRCm39) |
M252L |
probably benign |
Het |
| Or9i2 |
G |
A |
19: 13,816,288 (GRCm39) |
T83I |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,794,163 (GRCm39) |
N1950S |
probably damaging |
Het |
| Plagl2 |
A |
G |
2: 153,074,199 (GRCm39) |
L234P |
probably damaging |
Het |
| Psmb11 |
C |
T |
14: 54,863,108 (GRCm39) |
R109W |
probably damaging |
Het |
| Rcc1 |
C |
T |
4: 132,065,067 (GRCm39) |
R139H |
probably benign |
Het |
| Rsbn1 |
A |
G |
3: 103,869,668 (GRCm39) |
T710A |
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,989,658 (GRCm39) |
Y416C |
probably damaging |
Het |
| Slitrk4 |
A |
G |
X: 63,314,933 (GRCm39) |
I578T |
possibly damaging |
Het |
| Srgap1 |
T |
C |
10: 121,691,367 (GRCm39) |
Y289C |
probably damaging |
Het |
| Stxbp2 |
A |
G |
8: 3,692,685 (GRCm39) |
D579G |
possibly damaging |
Het |
| Tg |
T |
C |
15: 66,549,942 (GRCm39) |
Y235H |
probably damaging |
Het |
| Thbs3 |
A |
G |
3: 89,127,514 (GRCm39) |
N385S |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,387,602 (GRCm39) |
S80P |
probably damaging |
Het |
| Ubc |
T |
C |
5: 125,463,201 (GRCm39) |
K709E |
probably benign |
Het |
| Vstm4 |
C |
T |
14: 32,659,745 (GRCm39) |
P296S |
probably damaging |
Het |
| Wdr11 |
G |
A |
7: 129,208,822 (GRCm39) |
|
probably null |
Het |
| Wdr19 |
T |
C |
5: 65,409,721 (GRCm39) |
I1153T |
possibly damaging |
Het |
| Xpo6 |
T |
C |
7: 125,755,901 (GRCm39) |
E213G |
possibly damaging |
Het |
| Zxdc |
A |
C |
6: 90,349,544 (GRCm39) |
T311P |
probably damaging |
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 |
|
|
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 |
|
R5712:Mknk1
|
UTSW |
4 |
115,712,203 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation