Incidental Mutation 'IGL01331:Dusp16'
ID |
74523 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dusp16
|
Ensembl Gene |
ENSMUSG00000030203 |
Gene Name |
dual specificity phosphatase 16 |
Synonyms |
MKP-7, MKP7, D6Ertd213e, 3830417M17Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.890)
|
Stock # |
IGL01331
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
134692431-134769588 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 134695067 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 588
(Q588R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100857]
[ENSMUST00000129433]
[ENSMUST00000204083]
|
AlphaFold |
Q6PCP3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100857
AA Change: Q588R
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000098419 Gene: ENSMUSG00000030203 AA Change: Q588R
Domain | Start | End | E-Value | Type |
RHOD
|
12 |
134 |
5.58e-16 |
SMART |
DSPc
|
158 |
297 |
1.66e-68 |
SMART |
Blast:DSPc
|
576 |
621 |
9e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129433
|
SMART Domains |
Protein: ENSMUSP00000115925 Gene: ENSMUSG00000030203
Domain | Start | End | E-Value | Type |
Blast:RHOD
|
1 |
67 |
8e-41 |
BLAST |
PDB:2VSW|B
|
1 |
83 |
1e-52 |
PDB |
DSPc
|
91 |
232 |
3.73e-44 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148926
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203452
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203651
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204083
|
SMART Domains |
Protein: ENSMUSP00000144834 Gene: ENSMUSG00000030203
Domain | Start | End | E-Value | Type |
RHOD
|
12 |
124 |
1.5e-8 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitogen-activated protein kinase phosphatase that is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. The encoded protein specifically regulates the c-Jun amino-terminal kinase (JNK) and extracellular signal-regulated kinase (ERK) pathways.[provided by RefSeq, May 2010] PHENOTYPE: Mice homozygous for a gene trap allele exhibit complete neonatal lethality and decreased birth weight. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clca3a1 |
G |
A |
3: 144,453,273 (GRCm39) |
T517M |
probably damaging |
Het |
Clec4g |
T |
C |
8: 3,767,190 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
C |
T |
13: 93,233,454 (GRCm39) |
E545K |
possibly damaging |
Het |
Cntn6 |
A |
T |
6: 104,751,484 (GRCm39) |
D380V |
probably damaging |
Het |
Col9a2 |
C |
T |
4: 120,902,389 (GRCm39) |
P209S |
possibly damaging |
Het |
Cyp2b9 |
T |
C |
7: 25,887,140 (GRCm39) |
V183A |
probably damaging |
Het |
Dpt |
T |
C |
1: 164,624,379 (GRCm39) |
Y27H |
unknown |
Het |
Emg1 |
A |
G |
6: 124,682,033 (GRCm39) |
S164P |
probably benign |
Het |
Foxk1 |
G |
A |
5: 142,439,344 (GRCm39) |
R428Q |
probably damaging |
Het |
Frmd4a |
T |
A |
2: 4,607,036 (GRCm39) |
M667K |
probably benign |
Het |
Gpr55 |
T |
A |
1: 85,868,915 (GRCm39) |
|
probably benign |
Het |
Gtpbp8 |
A |
G |
16: 44,560,494 (GRCm39) |
I162T |
probably benign |
Het |
Ighv1-59 |
C |
T |
12: 115,298,992 (GRCm39) |
V21I |
possibly damaging |
Het |
Ipo11 |
T |
A |
13: 106,932,254 (GRCm39) |
Y938F |
possibly damaging |
Het |
Map4 |
G |
T |
9: 109,863,869 (GRCm39) |
V365L |
probably benign |
Het |
Mboat1 |
C |
A |
13: 30,403,684 (GRCm39) |
|
probably benign |
Het |
Med12 |
A |
G |
X: 100,324,360 (GRCm39) |
E649G |
possibly damaging |
Het |
Nfkbie |
T |
C |
17: 45,869,495 (GRCm39) |
V150A |
probably benign |
Het |
Or51ai2 |
A |
G |
7: 103,586,782 (GRCm39) |
Y65C |
possibly damaging |
Het |
Or8k22 |
A |
C |
2: 86,163,048 (GRCm39) |
Y217* |
probably null |
Het |
Prdm1 |
T |
A |
10: 44,317,970 (GRCm39) |
K299N |
possibly damaging |
Het |
Ribc1 |
T |
C |
X: 150,788,102 (GRCm39) |
T291A |
probably benign |
Het |
Rps6kc1 |
G |
T |
1: 190,532,549 (GRCm39) |
N484K |
possibly damaging |
Het |
Serpina3k |
C |
A |
12: 104,309,369 (GRCm39) |
A271D |
probably benign |
Het |
Spata18 |
G |
T |
5: 73,827,024 (GRCm39) |
R321L |
probably damaging |
Het |
Styxl2 |
C |
A |
1: 165,935,749 (GRCm39) |
V150L |
probably damaging |
Het |
Syne2 |
C |
A |
12: 75,976,027 (GRCm39) |
|
probably benign |
Het |
Syt17 |
T |
A |
7: 118,007,389 (GRCm39) |
I302F |
probably damaging |
Het |
Tgm6 |
A |
G |
2: 129,985,538 (GRCm39) |
|
probably null |
Het |
Tmc2 |
A |
G |
2: 130,074,276 (GRCm39) |
Y323C |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,901,112 (GRCm39) |
D1452G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,620,022 (GRCm39) |
I7555T |
probably damaging |
Het |
Ugt2b36 |
A |
T |
5: 87,238,801 (GRCm39) |
W131R |
probably damaging |
Het |
Vmn2r75 |
A |
T |
7: 85,820,870 (GRCm39) |
C21* |
probably null |
Het |
Zfp592 |
T |
A |
7: 80,691,296 (GRCm39) |
C1158* |
probably null |
Het |
|
Other mutations in Dusp16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01090:Dusp16
|
APN |
6 |
134,702,912 (GRCm39) |
missense |
probably benign |
0.13 |
IGL01305:Dusp16
|
APN |
6 |
134,695,824 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02535:Dusp16
|
APN |
6 |
134,695,790 (GRCm39) |
missense |
probably benign |
|
IGL02606:Dusp16
|
APN |
6 |
134,737,999 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02696:Dusp16
|
APN |
6 |
134,695,398 (GRCm39) |
missense |
probably damaging |
0.99 |
ANU22:Dusp16
|
UTSW |
6 |
134,695,824 (GRCm39) |
missense |
probably benign |
0.03 |
PIT4469001:Dusp16
|
UTSW |
6 |
134,738,115 (GRCm39) |
unclassified |
probably benign |
|
PIT4504001:Dusp16
|
UTSW |
6 |
134,716,846 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0492:Dusp16
|
UTSW |
6 |
134,695,365 (GRCm39) |
missense |
probably benign |
|
R0578:Dusp16
|
UTSW |
6 |
134,695,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R1630:Dusp16
|
UTSW |
6 |
134,697,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Dusp16
|
UTSW |
6 |
134,695,099 (GRCm39) |
nonsense |
probably null |
|
R2004:Dusp16
|
UTSW |
6 |
134,695,802 (GRCm39) |
missense |
probably benign |
|
R3690:Dusp16
|
UTSW |
6 |
134,738,082 (GRCm39) |
unclassified |
probably benign |
|
R3730:Dusp16
|
UTSW |
6 |
134,695,824 (GRCm39) |
missense |
probably benign |
|
R5778:Dusp16
|
UTSW |
6 |
134,695,277 (GRCm39) |
missense |
probably benign |
0.01 |
R6267:Dusp16
|
UTSW |
6 |
134,697,456 (GRCm39) |
critical splice donor site |
probably null |
|
R6296:Dusp16
|
UTSW |
6 |
134,697,456 (GRCm39) |
critical splice donor site |
probably null |
|
R6860:Dusp16
|
UTSW |
6 |
134,702,842 (GRCm39) |
nonsense |
probably null |
|
R7248:Dusp16
|
UTSW |
6 |
134,695,940 (GRCm39) |
missense |
probably benign |
0.01 |
R7645:Dusp16
|
UTSW |
6 |
134,702,888 (GRCm39) |
missense |
probably damaging |
0.97 |
R8108:Dusp16
|
UTSW |
6 |
134,716,836 (GRCm39) |
missense |
probably benign |
|
R8743:Dusp16
|
UTSW |
6 |
134,694,933 (GRCm39) |
missense |
probably benign |
0.35 |
R8824:Dusp16
|
UTSW |
6 |
134,716,732 (GRCm39) |
missense |
probably benign |
|
R8934:Dusp16
|
UTSW |
6 |
134,718,639 (GRCm39) |
intron |
probably benign |
|
R9328:Dusp16
|
UTSW |
6 |
134,716,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R9364:Dusp16
|
UTSW |
6 |
134,695,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R9430:Dusp16
|
UTSW |
6 |
134,737,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R9476:Dusp16
|
UTSW |
6 |
134,695,226 (GRCm39) |
missense |
probably benign |
0.07 |
R9510:Dusp16
|
UTSW |
6 |
134,695,226 (GRCm39) |
missense |
probably benign |
0.07 |
R9598:Dusp16
|
UTSW |
6 |
134,695,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2013-10-07 |