Incidental Mutation 'R3730:Dusp16'
ID |
270927 |
Institutional Source |
Beutler Lab
|
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 # |
R3730 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
134692431-134769588 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 134695824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 336
(S336P)
|
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: S336P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000098419 Gene: ENSMUSG00000030203 AA Change: S336P
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 |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 90.5%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
G |
1: 11,615,450 (GRCm39) |
N141S |
probably damaging |
Het |
Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
Acot12 |
T |
A |
13: 91,908,145 (GRCm39) |
F109Y |
possibly damaging |
Het |
Adamts19 |
G |
A |
18: 59,033,982 (GRCm39) |
R319Q |
probably damaging |
Het |
Akap1 |
T |
C |
11: 88,736,008 (GRCm39) |
E218G |
possibly damaging |
Het |
Atg4b |
T |
A |
1: 93,695,997 (GRCm39) |
D45E |
probably damaging |
Het |
Atoh1 |
A |
G |
6: 64,706,557 (GRCm39) |
E84G |
probably benign |
Het |
Cemip2 |
A |
G |
19: 21,803,481 (GRCm39) |
Y838C |
probably damaging |
Het |
Cfap251 |
A |
T |
5: 123,464,631 (GRCm39) |
I1280L |
possibly damaging |
Het |
Cfap54 |
A |
T |
10: 92,847,335 (GRCm39) |
Y951* |
probably null |
Het |
Col4a4 |
T |
A |
1: 82,433,472 (GRCm39) |
|
probably null |
Het |
Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
Cyp3a25 |
G |
A |
5: 145,939,891 (GRCm39) |
P39S |
probably damaging |
Het |
Dhx9 |
C |
A |
1: 153,353,866 (GRCm39) |
A186S |
probably benign |
Het |
Fcgbp |
T |
C |
7: 27,784,882 (GRCm39) |
V314A |
possibly damaging |
Het |
Focad |
T |
C |
4: 88,327,162 (GRCm39) |
I157T |
possibly damaging |
Het |
Frem3 |
A |
T |
8: 81,342,545 (GRCm39) |
T1613S |
probably damaging |
Het |
Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Ice1 |
A |
T |
13: 70,751,359 (GRCm39) |
S1576T |
probably damaging |
Het |
Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,198,321 (GRCm39) |
T555A |
possibly damaging |
Het |
Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
Ktn1 |
A |
G |
14: 47,938,606 (GRCm39) |
E766G |
probably damaging |
Het |
Ldlr |
C |
G |
9: 21,643,097 (GRCm39) |
A41G |
probably benign |
Het |
Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
Mapk11 |
G |
A |
15: 89,029,318 (GRCm39) |
A248V |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Npr2 |
T |
C |
4: 43,640,999 (GRCm39) |
S402P |
possibly damaging |
Het |
Olfm2 |
T |
C |
9: 20,584,063 (GRCm39) |
N76D |
probably damaging |
Het |
Or7g33 |
T |
A |
9: 19,448,447 (GRCm39) |
I260F |
probably benign |
Het |
Or8k3 |
A |
G |
2: 86,059,195 (GRCm39) |
I40T |
probably benign |
Het |
Pias4 |
A |
T |
10: 80,999,888 (GRCm39) |
F55Y |
probably damaging |
Het |
Rgs12 |
G |
A |
5: 35,189,595 (GRCm39) |
E658K |
probably damaging |
Het |
Ripor3 |
C |
G |
2: 167,834,739 (GRCm39) |
E251Q |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Slc35e4 |
A |
G |
11: 3,862,577 (GRCm39) |
V204A |
possibly damaging |
Het |
Syt4 |
T |
C |
18: 31,577,189 (GRCm39) |
H55R |
probably damaging |
Het |
Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
Usf3 |
G |
T |
16: 44,038,938 (GRCm39) |
L1139F |
probably benign |
Het |
Xrn2 |
A |
T |
2: 146,866,729 (GRCm39) |
M100L |
probably benign |
Het |
Zbtb33 |
C |
A |
X: 37,281,822 (GRCm39) |
N243K |
probably benign |
Het |
Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
probably damaging |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAACGCTTGAGCTTAGTGC -3'
(R):5'- AAAACTCAGGGGTTTTGCTTTGTC -3'
Sequencing Primer
(F):5'- CTGTCTTCCAGCTTCTCTGAGGAC -3'
(R):5'- GCTTTGTCCTCTCTATAGATTTGTG -3'
|
Posted On |
2015-03-18 |