Incidental Mutation 'IGL02606:Dusp16'
ID |
300283 |
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: 0.880)
|
Stock # |
IGL02606
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
134692431-134769588 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 134737999 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 13
(E13G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144834
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100857]
[ENSMUST00000129433]
[ENSMUST00000149776]
[ENSMUST00000204083]
|
AlphaFold |
Q6PCP3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100857
AA Change: E13G
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000098419 Gene: ENSMUSG00000030203 AA Change: E13G
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 |
possibly damaging
Transcript: ENSMUST00000129433
AA Change: E13G
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115925 Gene: ENSMUSG00000030203 AA Change: E13G
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 |
possibly damaging
Transcript: ENSMUST00000149776
AA Change: E13G
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000144784 Gene: ENSMUSG00000030203 AA Change: E13G
Domain | Start | End | E-Value | Type |
RHOD
|
12 |
134 |
5.58e-16 |
SMART |
Blast:DSPc
|
158 |
203 |
2e-6 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000204083
AA Change: E13G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144834 Gene: ENSMUSG00000030203 AA Change: E13G
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
A |
4: 103,099,978 (GRCm39) |
N74I |
probably benign |
Het |
Abr |
T |
C |
11: 76,369,990 (GRCm39) |
K75R |
probably damaging |
Het |
Adcy10 |
A |
C |
1: 165,347,087 (GRCm39) |
D368A |
possibly damaging |
Het |
Alas1 |
A |
G |
9: 106,118,309 (GRCm39) |
|
probably benign |
Het |
Alms1 |
T |
A |
6: 85,576,949 (GRCm39) |
D168E |
probably benign |
Het |
Ankar |
C |
T |
1: 72,729,444 (GRCm39) |
A82T |
possibly damaging |
Het |
Atp2c2 |
C |
T |
8: 120,457,013 (GRCm39) |
T205I |
probably benign |
Het |
Atp9a |
A |
T |
2: 168,494,588 (GRCm39) |
L639Q |
probably damaging |
Het |
Btf3l4 |
T |
C |
4: 108,675,411 (GRCm39) |
D134G |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,007,257 (GRCm39) |
C425R |
probably damaging |
Het |
Cct6b |
G |
T |
11: 82,627,271 (GRCm39) |
T322N |
probably damaging |
Het |
Col19a1 |
G |
A |
1: 24,573,197 (GRCm39) |
R192* |
probably null |
Het |
Cyp8b1 |
A |
T |
9: 121,744,801 (GRCm39) |
F177Y |
probably damaging |
Het |
Dnajc11 |
T |
A |
4: 152,063,941 (GRCm39) |
N474K |
probably benign |
Het |
Ephx2 |
T |
C |
14: 66,323,741 (GRCm39) |
N397S |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,122,913 (GRCm39) |
V145A |
possibly damaging |
Het |
Fiz1 |
A |
G |
7: 5,012,158 (GRCm39) |
L120P |
possibly damaging |
Het |
Galnt6 |
C |
T |
15: 100,612,100 (GRCm39) |
V181M |
probably damaging |
Het |
Ginm1 |
A |
G |
10: 7,646,163 (GRCm39) |
V279A |
probably damaging |
Het |
Gja10 |
T |
G |
4: 32,601,509 (GRCm39) |
I292L |
probably benign |
Het |
Gnb3 |
T |
C |
6: 124,814,378 (GRCm39) |
S136G |
probably benign |
Het |
Gramd1a |
A |
T |
7: 30,833,940 (GRCm39) |
V495E |
probably damaging |
Het |
Il1rn |
G |
T |
2: 24,235,462 (GRCm39) |
|
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,333,486 (GRCm39) |
|
probably benign |
Het |
Kctd1 |
A |
G |
18: 15,195,937 (GRCm39) |
S229P |
possibly damaging |
Het |
Kdm4a |
T |
C |
4: 118,017,486 (GRCm39) |
T527A |
probably benign |
Het |
Kif14 |
C |
T |
1: 136,424,331 (GRCm39) |
A982V |
probably damaging |
Het |
Klf6 |
A |
G |
13: 5,916,734 (GRCm39) |
K293R |
probably damaging |
Het |
Letmd1 |
A |
G |
15: 100,372,972 (GRCm39) |
D92G |
probably damaging |
Het |
Lmod1 |
G |
A |
1: 135,292,218 (GRCm39) |
V358M |
probably benign |
Het |
Ndufs1 |
A |
T |
1: 63,199,011 (GRCm39) |
D295E |
probably damaging |
Het |
Nek4 |
A |
G |
14: 30,685,916 (GRCm39) |
N283S |
probably benign |
Het |
Nhsl1 |
A |
G |
10: 18,387,385 (GRCm39) |
T220A |
probably damaging |
Het |
Nucks1 |
T |
A |
1: 131,852,363 (GRCm39) |
D71E |
probably damaging |
Het |
Or4n4 |
T |
C |
14: 50,519,530 (GRCm39) |
Y60C |
probably damaging |
Het |
Or8g18 |
C |
A |
9: 39,149,490 (GRCm39) |
V77F |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,452,852 (GRCm39) |
T3926A |
probably benign |
Het |
Pptc7 |
T |
A |
5: 122,451,651 (GRCm39) |
|
probably benign |
Het |
Prdm11 |
A |
G |
2: 92,805,948 (GRCm39) |
V334A |
probably benign |
Het |
Ptdss2 |
C |
A |
7: 140,732,911 (GRCm39) |
C231* |
probably null |
Het |
R3hdm1 |
C |
T |
1: 128,118,456 (GRCm39) |
P570S |
probably benign |
Het |
Rlbp1 |
T |
C |
7: 79,027,037 (GRCm39) |
T208A |
possibly damaging |
Het |
Rnaseh2a |
T |
G |
8: 85,686,723 (GRCm39) |
D142A |
probably damaging |
Het |
Rufy4 |
C |
T |
1: 74,172,509 (GRCm39) |
|
probably benign |
Het |
Tektl1 |
A |
G |
10: 78,584,300 (GRCm39) |
Y372H |
probably benign |
Het |
Tlcd4 |
G |
T |
3: 121,022,013 (GRCm39) |
D128E |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,646,565 (GRCm39) |
I11081T |
possibly damaging |
Het |
Ubap2l |
A |
T |
3: 89,945,735 (GRCm39) |
S173R |
probably damaging |
Het |
Vmn1r80 |
A |
G |
7: 11,926,959 (GRCm39) |
N23S |
probably damaging |
Het |
Vwce |
C |
A |
19: 10,632,712 (GRCm39) |
|
probably benign |
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 |
IGL02535:Dusp16
|
APN |
6 |
134,695,790 (GRCm39) |
missense |
probably benign |
|
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 |