Incidental Mutation 'IGL02535:Dusp16'
ID |
297476 |
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 # |
IGL02535
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
134692431-134769588 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 134695790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 347
(E347G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100857]
[ENSMUST00000129433]
[ENSMUST00000204083]
|
AlphaFold |
Q6PCP3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100857
AA Change: E347G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000098419 Gene: ENSMUSG00000030203 AA Change: E347G
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
G |
T |
6: 142,574,152 (GRCm39) |
D993E |
probably benign |
Het |
Acap1 |
T |
C |
11: 69,773,520 (GRCm39) |
N430D |
probably benign |
Het |
Actl11 |
T |
A |
9: 107,807,136 (GRCm39) |
D486E |
possibly damaging |
Het |
Adh6a |
A |
G |
3: 138,033,151 (GRCm39) |
N281D |
probably benign |
Het |
Apon |
A |
T |
10: 128,090,823 (GRCm39) |
E167V |
probably damaging |
Het |
Bahcc1 |
T |
A |
11: 120,178,362 (GRCm39) |
M2307K |
possibly damaging |
Het |
Cdca3 |
A |
G |
6: 124,807,521 (GRCm39) |
T10A |
probably damaging |
Het |
Cplane1 |
T |
G |
15: 8,204,322 (GRCm39) |
V65G |
probably damaging |
Het |
Dysf |
A |
T |
6: 84,126,679 (GRCm39) |
Y1298F |
possibly damaging |
Het |
F12 |
T |
C |
13: 55,574,157 (GRCm39) |
D25G |
possibly damaging |
Het |
F5 |
T |
A |
1: 164,026,302 (GRCm39) |
S1625T |
probably damaging |
Het |
Fbxl2 |
T |
C |
9: 113,808,575 (GRCm39) |
E372G |
probably benign |
Het |
Flrt1 |
T |
C |
19: 7,074,098 (GRCm39) |
I150V |
probably benign |
Het |
Grin2b |
T |
A |
6: 135,756,367 (GRCm39) |
I453F |
possibly damaging |
Het |
Hivep2 |
C |
T |
10: 14,015,241 (GRCm39) |
R1803C |
probably damaging |
Het |
Il33 |
A |
G |
19: 29,930,147 (GRCm39) |
N81D |
probably benign |
Het |
Ipo7 |
T |
C |
7: 109,653,233 (GRCm39) |
Y977H |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,824,927 (GRCm39) |
V1514A |
probably benign |
Het |
Map1a |
C |
A |
2: 121,132,658 (GRCm39) |
S920* |
probably null |
Het |
Nlrp9c |
T |
C |
7: 26,071,522 (GRCm39) |
N862S |
probably damaging |
Het |
Or1e29 |
A |
G |
11: 73,667,442 (GRCm39) |
V237A |
probably benign |
Het |
Or8k22 |
A |
G |
2: 86,163,019 (GRCm39) |
M227T |
probably damaging |
Het |
Or9s23 |
C |
A |
1: 92,500,943 (GRCm39) |
Q17K |
probably benign |
Het |
P2rx2 |
T |
A |
5: 110,490,219 (GRCm39) |
T134S |
probably benign |
Het |
Papolg |
T |
C |
11: 23,840,245 (GRCm39) |
D77G |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,367,522 (GRCm39) |
R1240* |
probably null |
Het |
Radx |
A |
T |
X: 138,393,396 (GRCm39) |
K217I |
probably damaging |
Het |
Slc22a8 |
A |
T |
19: 8,587,567 (GRCm39) |
T514S |
probably benign |
Het |
Slc39a5 |
T |
C |
10: 128,235,199 (GRCm39) |
D136G |
probably benign |
Het |
Tnn |
T |
C |
1: 159,950,222 (GRCm39) |
|
probably null |
Het |
Trav8d-2 |
A |
T |
14: 53,280,141 (GRCm39) |
S44C |
probably damaging |
Het |
Tubb1 |
A |
G |
2: 174,299,359 (GRCm39) |
N347S |
probably benign |
Het |
Ubap1 |
C |
T |
4: 41,379,667 (GRCm39) |
R294* |
probably null |
Het |
Ube2o |
C |
T |
11: 116,432,591 (GRCm39) |
V792M |
probably benign |
Het |
Usp13 |
A |
G |
3: 32,892,075 (GRCm39) |
S85G |
probably benign |
Het |
Vmac |
C |
T |
17: 57,022,550 (GRCm39) |
M61I |
probably benign |
Het |
Vmn1r54 |
T |
A |
6: 90,246,260 (GRCm39) |
I58N |
possibly damaging |
Het |
Zmym5 |
A |
G |
14: 57,035,123 (GRCm39) |
|
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 |
IGL01331:Dusp16
|
APN |
6 |
134,695,067 (GRCm39) |
missense |
possibly damaging |
0.53 |
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 |
2015-04-16 |