Incidental Mutation 'PIT4504001:Dusp16'
| ID |
556007 |
| 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: 0.880)
|
| Stock # |
PIT4504001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
134692431-134769588 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 134716846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 154
(V154F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098419
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100857]
[ENSMUST00000129433]
[ENSMUST00000149776]
[ENSMUST00000204083]
|
| AlphaFold |
Q6PCP3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100857
AA Change: V154F
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098419
Gene: ENSMUSG00000030203
AA Change: V154F
| 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
AA Change: V154F
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115925
Gene: ENSMUSG00000030203
AA Change: V154F
| 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: V154F
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144784
Gene: ENSMUSG00000030203
AA Change: V154F
| Domain | Start | End | E-Value | Type |
|---|
|
RHOD
|
12 |
134 |
5.58e-16 |
SMART |
|
Blast:DSPc
|
158 |
203 |
2e-6 |
BLAST |
|
| 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: 92.8%
- 3x: 90.6%
- 10x: 84.7%
- 20x: 71.6%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
A |
2: 103,547,537 (GRCm39) |
C970* |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,707,471 (GRCm39) |
P1312S |
probably damaging |
Het |
| Arid5a |
T |
C |
1: 36,356,706 (GRCm39) |
I116T |
probably damaging |
Het |
| Bank1 |
C |
A |
3: 135,806,180 (GRCm39) |
D485Y |
probably damaging |
Het |
| Cbln3 |
C |
T |
14: 56,120,956 (GRCm39) |
V122M |
probably damaging |
Het |
| Cox10 |
C |
T |
11: 63,855,042 (GRCm39) |
C413Y |
possibly damaging |
Het |
| Ctsll3 |
T |
A |
13: 60,948,823 (GRCm39) |
D44V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,911,529 (GRCm39) |
N483K |
possibly damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,580,785 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
A |
G |
8: 62,411,147 (GRCm39) |
T470A |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 138,967,742 (GRCm39) |
V44A |
probably benign |
Het |
| Ect2 |
G |
A |
3: 27,181,097 (GRCm39) |
R586* |
probably null |
Het |
| Ermard |
T |
A |
17: 15,279,084 (GRCm39) |
C460* |
probably null |
Het |
| Fat2 |
C |
T |
11: 55,146,936 (GRCm39) |
G4020D |
possibly damaging |
Het |
| Flacc1 |
T |
A |
1: 58,698,258 (GRCm39) |
I348F |
probably benign |
Het |
| Galnt16 |
G |
T |
12: 80,639,191 (GRCm39) |
E402* |
probably null |
Het |
| Gm5414 |
T |
G |
15: 101,534,258 (GRCm39) |
D282A |
probably damaging |
Het |
| Gm6741 |
C |
T |
17: 91,544,344 (GRCm39) |
Q36* |
probably null |
Het |
| Gm7356 |
A |
T |
17: 14,221,720 (GRCm39) |
L103Q |
probably damaging |
Het |
| Hcn1 |
A |
G |
13: 118,112,411 (GRCm39) |
T792A |
possibly damaging |
Het |
| Hemgn |
T |
C |
4: 46,395,863 (GRCm39) |
N458D |
probably benign |
Het |
| Hesx1 |
C |
A |
14: 26,723,838 (GRCm39) |
D140E |
probably benign |
Het |
| Hjv |
A |
T |
3: 96,435,813 (GRCm39) |
D357V |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,799,605 (GRCm39) |
I163T |
possibly damaging |
Het |
| Igfbpl1 |
T |
C |
4: 45,813,469 (GRCm39) |
T249A |
possibly damaging |
Het |
| Il33 |
A |
T |
19: 29,930,139 (GRCm39) |
H78L |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,768,564 (GRCm39) |
D691V |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,131,369 (GRCm39) |
N1945I |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,305,747 (GRCm39) |
D2938G |
probably damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,756,403 (GRCm39) |
Y726F |
probably benign |
Het |
| Magi3 |
G |
T |
3: 103,922,842 (GRCm39) |
Q1292K |
probably benign |
Het |
| Mllt3 |
A |
C |
4: 87,692,324 (GRCm39) |
F546L |
probably damaging |
Het |
| Mrpl14 |
A |
G |
17: 46,009,147 (GRCm39) |
K82R |
probably benign |
Het |
| Noxred1 |
A |
G |
12: 87,271,653 (GRCm39) |
V172A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 59,023,948 (GRCm39) |
I574N |
probably damaging |
Het |
| Or2n1b |
A |
G |
17: 38,460,060 (GRCm39) |
T194A |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,671 (GRCm39) |
T134S |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,054,864 (GRCm39) |
V649D |
probably benign |
Het |
| Pdlim2 |
G |
T |
14: 70,403,579 (GRCm39) |
P278T |
probably benign |
Het |
| Pm20d2 |
A |
C |
4: 33,183,152 (GRCm39) |
L223V |
probably damaging |
Het |
| Pmpcb |
G |
T |
5: 21,948,388 (GRCm39) |
R223L |
probably damaging |
Het |
| Pole2 |
A |
T |
12: 69,256,759 (GRCm39) |
Y255* |
probably null |
Het |
| Rims1 |
T |
A |
1: 22,467,684 (GRCm39) |
I317L |
|
Het |
| Scnn1g |
C |
A |
7: 121,341,554 (GRCm39) |
H239N |
probably benign |
Het |
| Spag17 |
A |
G |
3: 100,010,426 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
A |
T |
8: 48,746,692 (GRCm39) |
F1038I |
probably damaging |
Het |
| Tshz2 |
T |
C |
2: 169,727,971 (GRCm39) |
F856L |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,197,508 (GRCm39) |
S715P |
unknown |
Het |
| Usp13 |
A |
C |
3: 32,959,579 (GRCm39) |
S557R |
probably damaging |
Het |
| Usp19 |
T |
A |
9: 108,370,169 (GRCm39) |
S43T |
probably benign |
Het |
| Vmn2r7 |
A |
T |
3: 64,623,397 (GRCm39) |
Y308N |
probably benign |
Het |
| Zfp455 |
A |
G |
13: 67,346,685 (GRCm39) |
D32G |
probably damaging |
Het |
| Zfp512 |
T |
A |
5: 31,634,225 (GRCm39) |
|
probably null |
Het |
| Zfr |
A |
G |
15: 12,166,244 (GRCm39) |
E838G |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACACTGACAATGTTTCCC -3'
(R):5'- ACCTGCTTGCATCTGTACCG -3'
Sequencing Primer
(F):5'- GACAATGTTTCCCCCTTTCTGG -3'
(R):5'- GCATCTGTACCGTCTGATTTTTCTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation