Incidental Mutation 'R3972:Dusp12'
| ID |
311005 |
| 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 |
040840-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3972 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
170701756-170713109 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 170707344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 248
(K248R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027970]
[ENSMUST00000046476]
[ENSMUST00000163252]
[ENSMUST00000170420]
[ENSMUST00000172042]
|
| AlphaFold |
Q9D0T2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027970
AA Change: K248R
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027970
Gene: ENSMUSG00000026659
AA Change: K248R
| 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 |
probably benign
Transcript: ENSMUST00000171447
|
| SMART Domains |
Protein: ENSMUSP00000130683
Gene: ENSMUSG00000026659
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
G |
17: 72,292,442 (GRCm39) |
D512A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,720,393 (GRCm39) |
F477S |
probably damaging |
Het |
| C7 |
C |
T |
15: 5,037,133 (GRCm39) |
V582I |
possibly damaging |
Het |
| Cldn20 |
A |
G |
17: 3,582,914 (GRCm39) |
N29S |
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,336,522 (GRCm39) |
A251T |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,685,943 (GRCm39) |
D131V |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fgf1 |
T |
C |
18: 38,980,147 (GRCm39) |
T76A |
probably benign |
Het |
| Gucy2c |
C |
T |
6: 136,685,364 (GRCm39) |
R859K |
probably damaging |
Het |
| Irf2bp1 |
T |
A |
7: 18,739,369 (GRCm39) |
D336E |
possibly damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,513 (GRCm39) |
H158R |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,881,210 (GRCm39) |
C2814R |
possibly damaging |
Het |
| Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mrpl16 |
A |
G |
19: 11,750,239 (GRCm39) |
N41S |
probably benign |
Het |
| Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,194,991 (GRCm39) |
C29F |
probably benign |
Het |
| Or4d11 |
G |
T |
19: 12,013,383 (GRCm39) |
T241N |
probably damaging |
Het |
| Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
| Otp |
T |
G |
13: 95,019,692 (GRCm39) |
L181R |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,117,513 (GRCm39) |
T592A |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,111,739 (GRCm39) |
Y1579H |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,224 (GRCm39) |
V864A |
probably benign |
Het |
| Reln |
A |
T |
5: 22,183,999 (GRCm39) |
F1667I |
probably damaging |
Het |
| Serpinb10 |
T |
A |
1: 107,463,852 (GRCm39) |
F45I |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,248,649 (GRCm39) |
N422K |
probably damaging |
Het |
| Slc17a7 |
A |
G |
7: 44,819,334 (GRCm39) |
I137V |
possibly damaging |
Het |
| Tet1 |
T |
A |
10: 62,649,505 (GRCm39) |
E67D |
probably damaging |
Het |
| Tpcn1 |
C |
A |
5: 120,691,817 (GRCm39) |
|
probably null |
Het |
| Trav9-4 |
T |
C |
14: 53,913,877 (GRCm39) |
Y44H |
possibly damaging |
Het |
| Trmt1l |
A |
G |
1: 151,309,634 (GRCm39) |
N106D |
possibly damaging |
Het |
| Ttll12 |
A |
T |
15: 83,466,297 (GRCm39) |
L388Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubfd1 |
T |
G |
7: 121,666,656 (GRCm39) |
S51A |
probably benign |
Het |
| Uckl1 |
T |
C |
2: 181,216,256 (GRCm39) |
D148G |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,803 (GRCm39) |
L2571S |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,861,714 (GRCm39) |
V718A |
probably benign |
Het |
| Zfp266 |
A |
G |
9: 20,411,446 (GRCm39) |
S244P |
probably damaging |
Het |
| Zfp979 |
G |
A |
4: 147,702,876 (GRCm39) |
Q25* |
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 |
|
R4298:Dusp12
|
UTSW |
1 |
170,708,198 (GRCm39) |
missense |
probably benign |
0.12 |
|
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'- AGAAAGGTGCAGCTGTTGTG -3'
(R):5'- GGGCTCCTGAAATTTTGAGTAG -3'
Sequencing Primer
(F):5'- AAGCCTGTGGTGACCTTAAC -3'
(R):5'- GGCTCCTGAAATTTTGAGTAGCACAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation