Incidental Mutation 'R4298:Dusp12'
| ID |
323406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dusp12
|
| Ensembl Gene |
ENSMUSG00000026659 |
| Gene Name |
dual specificity phosphatase 12 |
| Synonyms |
T-DSP4, LMW-DSP4, VH1, 1190004O14Rik, ESTM36, mVH1 |
| MMRRC Submission |
041086-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4298 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
170701756-170713109 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 170708198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 173
(T173M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027970]
[ENSMUST00000046476]
[ENSMUST00000163252]
[ENSMUST00000170420]
[ENSMUST00000172042]
[ENSMUST00000180542]
|
| AlphaFold |
Q9D0T2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027970
AA Change: T173M
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000027970
Gene: ENSMUSG00000026659
AA Change: T173M
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
26 |
167 |
1.23e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046476
|
| SMART Domains |
Protein: ENSMUSP00000044320
Gene: ENSMUSG00000026659
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
26 |
157 |
5.96e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163252
|
| SMART Domains |
Protein: ENSMUSP00000126676
Gene: ENSMUSG00000026659
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPc
|
30 |
115 |
2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166393
|
| SMART Domains |
Protein: ENSMUSP00000130507
Gene: ENSMUSG00000026659
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPc
|
31 |
121 |
8.5e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170420
|
| SMART Domains |
Protein: ENSMUSP00000129515
Gene: ENSMUSG00000026659
| Domain | Start | End | E-Value | Type |
|---|
|
PTPc_DSPc
|
26 |
136 |
4e-4 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000171447
AA Change: T103M
|
| SMART Domains |
Protein: ENSMUSP00000130683
Gene: ENSMUSG00000026659
AA Change: T103M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPc
|
3 |
98 |
6.9e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171747
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180542
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene 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. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Ccser2 |
T |
A |
14: 36,612,337 (GRCm39) |
Q158L |
possibly damaging |
Het |
| Cct7 |
T |
A |
6: 85,445,155 (GRCm39) |
C469S |
probably damaging |
Het |
| Chmp7 |
A |
T |
14: 69,956,650 (GRCm39) |
|
probably null |
Het |
| Clcn4 |
C |
T |
7: 7,299,737 (GRCm39) |
D31N |
possibly damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
| Cyp4a10 |
T |
C |
4: 115,389,889 (GRCm39) |
L498P |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,113,811 (GRCm39) |
N370K |
possibly damaging |
Het |
| Ebf3 |
C |
T |
7: 136,826,958 (GRCm39) |
R318Q |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
| Erich6 |
G |
T |
3: 58,531,712 (GRCm39) |
A428D |
probably benign |
Het |
| Ext1 |
A |
T |
15: 53,208,521 (GRCm39) |
I80N |
probably benign |
Het |
| Extl1 |
T |
C |
4: 134,084,969 (GRCm39) |
E667G |
probably damaging |
Het |
| F2 |
T |
G |
2: 91,459,665 (GRCm39) |
|
probably null |
Het |
| Fbxw16 |
T |
C |
9: 109,275,625 (GRCm39) |
I135V |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Lmbrd2 |
G |
A |
15: 9,165,882 (GRCm39) |
R252H |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,809,472 (GRCm39) |
T381A |
probably damaging |
Het |
| Mcpt4 |
A |
T |
14: 56,298,444 (GRCm39) |
V97D |
possibly damaging |
Het |
| Nefh |
A |
G |
11: 4,890,066 (GRCm39) |
I851T |
probably benign |
Het |
| Nf1 |
A |
T |
11: 79,275,070 (GRCm39) |
I44F |
probably damaging |
Het |
| Nyap2 |
A |
T |
1: 81,218,811 (GRCm39) |
I278F |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,993 (GRCm39) |
T240S |
probably benign |
Het |
| Or4f7d-ps1 |
G |
T |
2: 111,674,789 (GRCm39) |
|
noncoding transcript |
Het |
| Pdcd4 |
C |
A |
19: 53,908,092 (GRCm39) |
P201Q |
probably damaging |
Het |
| Pramel16 |
A |
T |
4: 143,675,713 (GRCm39) |
L371* |
probably null |
Het |
| Prdm11 |
T |
C |
2: 92,823,728 (GRCm39) |
T179A |
probably benign |
Het |
| Qrfpr |
T |
A |
3: 36,243,703 (GRCm39) |
I133F |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,692,453 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
| Sag |
G |
C |
1: 87,772,737 (GRCm39) |
D402H |
probably benign |
Het |
| Sbk3 |
T |
A |
7: 4,972,979 (GRCm39) |
T64S |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3gl1 |
C |
T |
17: 56,326,173 (GRCm39) |
G111D |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,373,914 (GRCm39) |
R379W |
probably damaging |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Stk39 |
C |
T |
2: 68,221,284 (GRCm39) |
G213D |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,222,603 (GRCm39) |
|
probably benign |
Het |
| Taf1d |
T |
C |
9: 15,219,939 (GRCm39) |
S63P |
probably damaging |
Het |
| Tnfrsf13b |
C |
G |
11: 61,031,643 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,554,394 (GRCm39) |
A30807D |
probably damaging |
Het |
| Unc119 |
A |
G |
11: 78,238,948 (GRCm39) |
N158S |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,620,801 (GRCm39) |
I845N |
possibly damaging |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Zdhhc4 |
A |
G |
5: 143,309,997 (GRCm39) |
V87A |
probably damaging |
Het |
| Zwilch |
A |
G |
9: 64,062,444 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Dusp12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01104:Dusp12
|
APN |
1 |
170,702,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02718:Dusp12
|
APN |
1 |
170,708,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0028:Dusp12
|
UTSW |
1 |
170,707,386 (GRCm39) |
nonsense |
probably null |
|
|
R0040:Dusp12
|
UTSW |
1 |
170,708,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Dusp12
|
UTSW |
1 |
170,708,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1114:Dusp12
|
UTSW |
1 |
170,708,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:Dusp12
|
UTSW |
1 |
170,702,022 (GRCm39) |
missense |
probably benign |
|
|
R1850:Dusp12
|
UTSW |
1 |
170,708,198 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2138:Dusp12
|
UTSW |
1 |
170,708,166 (GRCm39) |
nonsense |
probably null |
|
|
R2260:Dusp12
|
UTSW |
1 |
170,708,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3972:Dusp12
|
UTSW |
1 |
170,707,344 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4803:Dusp12
|
UTSW |
1 |
170,708,175 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6639:Dusp12
|
UTSW |
1 |
170,708,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6674:Dusp12
|
UTSW |
1 |
170,707,317 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6981:Dusp12
|
UTSW |
1 |
170,708,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Dusp12
|
UTSW |
1 |
170,707,345 (GRCm39) |
nonsense |
probably null |
|
|
R7861:Dusp12
|
UTSW |
1 |
170,702,095 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTGATTTCAGTCCCAGC -3'
(R):5'- GCACTTCCATTGGCCAAAGG -3'
Sequencing Primer
(F):5'- CGTGACTTTCTGCTCAACAAAAGG -3'
(R):5'- AGGCCAACTTAGGGTCTTCC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation