Incidental Mutation 'R6591:Dusp11'
| ID |
524567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dusp11
|
| Ensembl Gene |
ENSMUSG00000030002 |
| Gene Name |
dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) |
| Synonyms |
2010300F21Rik |
| MMRRC Submission |
044715-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6591 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
85919250-85938649 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85938507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 4
(H4R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032071]
|
| AlphaFold |
Q6NXK5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032071
AA Change: H4R
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000032071
Gene: ENSMUSG00000030002
AA Change: H4R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
14 |
N/A |
INTRINSIC |
|
Pfam:DSPc
|
74 |
203 |
2.5e-18 |
PFAM |
|
low complexity region
|
230 |
243 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151394
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201530
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201818
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202379
|
| Meta Mutation Damage Score |
0.0748 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (34/34) |
| 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 localized to the nucleus and binds directly to RNA and splicing factors, and thus it is suggested to participate in nuclear mRNA metabolism. [provided by RefSeq, Sep 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
A |
G |
9: 63,306,236 (GRCm39) |
Y90H |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,369,624 (GRCm39) |
D337G |
probably benign |
Het |
| Amn |
A |
G |
12: 111,241,831 (GRCm39) |
H299R |
possibly damaging |
Het |
| Angptl4 |
A |
G |
17: 33,999,755 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,730,463 (GRCm39) |
M563I |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,846,683 (GRCm39) |
M1042T |
probably benign |
Het |
| Cd209c |
T |
A |
8: 3,995,680 (GRCm39) |
I41L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,803,149 (GRCm39) |
V185D |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,321,762 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cldn8 |
T |
C |
16: 88,359,423 (GRCm39) |
I167M |
possibly damaging |
Het |
| Cln3 |
A |
G |
7: 126,178,606 (GRCm39) |
V143A |
possibly damaging |
Het |
| Ephb3 |
T |
A |
16: 21,033,223 (GRCm39) |
F69Y |
probably damaging |
Het |
| Gm11099 |
A |
T |
2: 58,749,485 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,149,021 (GRCm39) |
Y521* |
probably null |
Het |
| Igf2r |
A |
G |
17: 12,907,895 (GRCm39) |
L2143P |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,970 (GRCm39) |
V192A |
probably benign |
Het |
| Or4a81 |
A |
T |
2: 89,619,332 (GRCm39) |
Y121* |
probably null |
Het |
| Or8k53 |
A |
C |
2: 86,177,763 (GRCm39) |
S116A |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,891 (GRCm39) |
S329P |
probably benign |
Het |
| Pld3 |
A |
T |
7: 27,231,741 (GRCm39) |
N483K |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,557,544 (GRCm39) |
E252D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,609 (GRCm39) |
T4406A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,893,063 (GRCm39) |
D380G |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,913,863 (GRCm39) |
D1355E |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,984 (GRCm39) |
S1945P |
probably damaging |
Het |
| Ube2m |
A |
T |
7: 12,770,396 (GRCm39) |
F70I |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,546,185 (GRCm39) |
I664V |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,378 (GRCm39) |
E179G |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,504,939 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,236,875 (GRCm39) |
L718P |
probably damaging |
Het |
| Zfp354c |
A |
G |
11: 50,705,602 (GRCm39) |
I491T |
probably benign |
Het |
|
| Other mutations in Dusp11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01107:Dusp11
|
APN |
6 |
85,929,352 (GRCm39) |
splice site |
probably benign |
|
|
IGL01584:Dusp11
|
APN |
6 |
85,930,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02276:Dusp11
|
APN |
6 |
85,935,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02727:Dusp11
|
APN |
6 |
85,938,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Dusp11
|
UTSW |
6 |
85,935,712 (GRCm39) |
splice site |
probably benign |
|
|
R0413:Dusp11
|
UTSW |
6 |
85,929,352 (GRCm39) |
splice site |
probably benign |
|
|
R1669:Dusp11
|
UTSW |
6 |
85,927,008 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2115:Dusp11
|
UTSW |
6 |
85,935,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Dusp11
|
UTSW |
6 |
85,927,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Dusp11
|
UTSW |
6 |
85,930,363 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5288:Dusp11
|
UTSW |
6 |
85,924,587 (GRCm39) |
makesense |
probably null |
|
|
R5386:Dusp11
|
UTSW |
6 |
85,924,587 (GRCm39) |
makesense |
probably null |
|
|
R5756:Dusp11
|
UTSW |
6 |
85,929,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5987:Dusp11
|
UTSW |
6 |
85,936,215 (GRCm39) |
nonsense |
probably null |
|
|
R6691:Dusp11
|
UTSW |
6 |
85,938,507 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7684:Dusp11
|
UTSW |
6 |
85,927,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAGGGACGCCTCAATACAG -3'
(R):5'- CTTTCAGTGCGACGTGTGTC -3'
Sequencing Primer
(F):5'- TCAATACAGGCAGCCGCG -3'
(R):5'- GTGTGTCGTCAGCACGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation