Incidental Mutation 'R9186:Dusp13b'
| ID |
697400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dusp13b
|
| Ensembl Gene |
ENSMUSG00000021768 |
| Gene Name |
dual specificity phosphatase 13B |
| Synonyms |
TS-DSP6, TMDP, Dusp13, LMW-DSP6, LOC382853 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9186 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
21783463-21792947 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21798563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 34
(S34T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022292]
[ENSMUST00000075040]
[ENSMUST00000119430]
[ENSMUST00000127851]
[ENSMUST00000144061]
[ENSMUST00000153071]
[ENSMUST00000183893]
[ENSMUST00000183943]
[ENSMUST00000184571]
[ENSMUST00000185042]
|
| AlphaFold |
Q9QYJ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022292
|
| SMART Domains |
Protein: ENSMUSP00000022292
Gene: ENSMUSG00000021770
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
SAM
|
72 |
141 |
1.86e-3 |
SMART |
|
transmembrane domain
|
215 |
237 |
N/A |
INTRINSIC |
|
transmembrane domain
|
262 |
284 |
N/A |
INTRINSIC |
|
transmembrane domain
|
297 |
319 |
N/A |
INTRINSIC |
|
Pfam:PAP2_C
|
355 |
428 |
3e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075040
AA Change: S34T
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074553
Gene: ENSMUSG00000021768
AA Change: S34T
| Domain | Start | End | E-Value | Type |
|---|
|
DSPc
|
37 |
181 |
7.66e-32 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119430
|
| SMART Domains |
Protein: ENSMUSP00000112803
Gene: ENSMUSG00000021770
| Domain | Start | End | E-Value | Type |
|---|
|
SAM
|
9 |
78 |
1.86e-3 |
SMART |
|
transmembrane domain
|
152 |
174 |
N/A |
INTRINSIC |
|
transmembrane domain
|
199 |
221 |
N/A |
INTRINSIC |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
Pfam:PAP2_C
|
292 |
365 |
6.1e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127851
AA Change: S34T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120977
Gene: ENSMUSG00000021768
AA Change: S34T
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1vhra_
|
20 |
133 |
9e-10 |
SMART |
|
Blast:DSPc
|
37 |
129 |
5e-60 |
BLAST |
|
PDB:2E0T|A
|
39 |
129 |
1e-26 |
PDB |
|
low complexity region
|
162 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144061
|
| SMART Domains |
Protein: ENSMUSP00000117603
Gene: ENSMUSG00000021770
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153071
|
| SMART Domains |
Protein: ENSMUSP00000139140
Gene: ENSMUSG00000021768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DSPc
|
1 |
48 |
5.2e-14 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183893
AA Change: S34T
|
| SMART Domains |
Protein: ENSMUSP00000139061
Gene: ENSMUSG00000021768
AA Change: S34T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183943
AA Change: S34T
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000139154
Gene: ENSMUSG00000021768
AA Change: S34T
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
19 |
71 |
6.78e-8 |
PROSPERO |
|
DSPc
|
95 |
240 |
9.29e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184571
AA Change: S34T
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185042
AA Change: S34T
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Members of the protein-tyrosine phosphatase superfamily cooperate with protein kinases to regulate cell proliferation and differentiation. This superfamily is separated into two families based on the substrate that is dephosphorylated. One family, the dual specificity phosphatases (DSPs) acts on both phosphotyrosine and phosphoserine/threonine residues. This gene encodes different but related DSP proteins through the use of non-overlapping open reading frames, alternate splicing, and presumed different transcription promoters. Expression of the distinct proteins from this gene has been found to be tissue specific and the proteins may be involved in postnatal development of specific tissues. A protein encoded by the upstream ORF was found in skeletal muscle, whereas the encoded protein from the downstream ORF was found only in testis. In humans, a similar pattern of expression was found. Multiple alternatively spliced transcript variants were described, but the full-length sequence of only some were determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
A |
9: 57,164,472 (GRCm39) |
R634L |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,767,383 (GRCm39) |
I210T |
possibly damaging |
Het |
| Ankle2 |
G |
A |
5: 110,400,610 (GRCm39) |
V649M |
possibly damaging |
Het |
| Arid3b |
A |
T |
9: 57,702,217 (GRCm39) |
|
probably null |
Het |
| Arl10 |
A |
G |
13: 54,726,620 (GRCm39) |
N133D |
probably damaging |
Het |
| Bag6 |
C |
T |
17: 35,363,667 (GRCm39) |
R784W |
probably damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,865,426 (GRCm39) |
T42A |
unknown |
Het |
| Cd164 |
C |
A |
10: 41,404,695 (GRCm39) |
P151Q |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Ceacam2 |
T |
A |
7: 25,227,213 (GRCm39) |
N218I |
probably damaging |
Het |
| Cfap97 |
C |
T |
8: 46,644,665 (GRCm39) |
R466C |
possibly damaging |
Het |
| Colgalt2 |
C |
A |
1: 152,384,403 (GRCm39) |
T581K |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,154,632 (GRCm39) |
D216V |
probably benign |
Het |
| Esf1 |
T |
A |
2: 139,990,792 (GRCm39) |
K564I |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,021,470 (GRCm39) |
N1315S |
probably benign |
Het |
| Fubp1 |
A |
T |
3: 151,926,153 (GRCm39) |
M292L |
probably damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,378,200 (GRCm39) |
M139L |
possibly damaging |
Het |
| Gk5 |
T |
A |
9: 96,015,469 (GRCm39) |
V95D |
probably benign |
Het |
| Glcci1 |
C |
A |
6: 8,537,826 (GRCm39) |
P148Q |
possibly damaging |
Het |
| Gm19410 |
A |
T |
8: 36,282,629 (GRCm39) |
S1952C |
possibly damaging |
Het |
| Gstm4 |
T |
C |
3: 107,952,049 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,436,227 (GRCm39) |
L1211Q |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,876,457 (GRCm39) |
S1346P |
possibly damaging |
Het |
| Hexb |
A |
C |
13: 97,325,836 (GRCm39) |
V158G |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,439 (GRCm39) |
E251G |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,438,370 (GRCm39) |
Y89C |
probably damaging |
Het |
| Iqub |
A |
T |
6: 24,450,766 (GRCm39) |
V611D |
possibly damaging |
Het |
| Itgbl1 |
G |
A |
14: 124,094,970 (GRCm39) |
D332N |
probably benign |
Het |
| Krtap26-1 |
C |
A |
16: 88,444,609 (GRCm39) |
R4L |
unknown |
Het |
| Lgi3 |
A |
G |
14: 70,772,193 (GRCm39) |
Y246C |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,052,248 (GRCm39) |
I1002N |
probably damaging |
Het |
| Myo18a |
C |
T |
11: 77,749,847 (GRCm39) |
T66M |
|
Het |
| Naip6 |
T |
C |
13: 100,436,390 (GRCm39) |
D711G |
possibly damaging |
Het |
| Or4f59 |
C |
A |
2: 111,873,095 (GRCm39) |
C94F |
probably damaging |
Het |
| Orc5 |
T |
A |
5: 22,752,944 (GRCm39) |
Q48L |
probably benign |
Het |
| Oxct2a |
C |
A |
4: 123,216,461 (GRCm39) |
A307S |
probably damaging |
Het |
| Pgls |
T |
C |
8: 72,048,833 (GRCm39) |
*258Q |
probably null |
Het |
| Plekha6 |
C |
T |
1: 133,220,171 (GRCm39) |
R955W |
probably damaging |
Het |
| Polr1c |
G |
T |
17: 46,556,633 (GRCm39) |
N97K |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,764,159 (GRCm39) |
V544A |
probably benign |
Het |
| Rbl2 |
G |
A |
8: 91,828,006 (GRCm39) |
G574S |
probably damaging |
Het |
| Scamp1 |
T |
A |
13: 94,344,682 (GRCm39) |
T272S |
possibly damaging |
Het |
| Sun2 |
T |
A |
15: 79,611,737 (GRCm39) |
D562V |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,242,288 (GRCm39) |
F1565S |
probably damaging |
Het |
| Tatdn2 |
C |
T |
6: 113,687,125 (GRCm39) |
R779C |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,111,639 (GRCm39) |
I430V |
probably benign |
Het |
| Tmem86b |
T |
C |
7: 4,632,725 (GRCm39) |
D43G |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,773,488 (GRCm39) |
N447S |
|
Het |
| Trmt2a |
T |
C |
16: 18,069,033 (GRCm39) |
S292P |
probably benign |
Het |
| Trpc2 |
T |
C |
7: 101,737,492 (GRCm39) |
V428A |
probably damaging |
Het |
| Tsc2 |
T |
C |
17: 24,823,862 (GRCm39) |
E981G |
probably damaging |
Het |
| Ucp1 |
G |
T |
8: 84,017,272 (GRCm39) |
G21* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,490,318 (GRCm39) |
T21A |
probably benign |
Het |
| Vapa |
A |
T |
17: 65,900,507 (GRCm39) |
N88K |
probably damaging |
Het |
| Wasl |
T |
C |
6: 24,664,615 (GRCm39) |
R10G |
probably damaging |
Het |
| Zan |
C |
A |
5: 137,391,810 (GRCm39) |
V4662F |
unknown |
Het |
| Zap70 |
G |
A |
1: 36,818,832 (GRCm39) |
M382I |
possibly damaging |
Het |
| Zdhhc17 |
T |
C |
10: 110,780,281 (GRCm39) |
I624M |
probably benign |
Het |
|
| Other mutations in Dusp13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01803:Dusp13b
|
APN |
14 |
21,783,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02963:Dusp13b
|
APN |
14 |
21,783,875 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0827:Dusp13b
|
UTSW |
14 |
21,792,839 (GRCm39) |
missense |
probably benign |
|
|
R1185:Dusp13b
|
UTSW |
14 |
21,785,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Dusp13b
|
UTSW |
14 |
21,785,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1185:Dusp13b
|
UTSW |
14 |
21,785,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1882:Dusp13b
|
UTSW |
14 |
21,785,043 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2915:Dusp13b
|
UTSW |
14 |
21,790,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3954:Dusp13b
|
UTSW |
14 |
21,790,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4623:Dusp13b
|
UTSW |
14 |
21,793,546 (GRCm39) |
unclassified |
probably benign |
|
|
R4837:Dusp13b
|
UTSW |
14 |
21,793,593 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6713:Dusp13b
|
UTSW |
14 |
21,798,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7294:Dusp13b
|
UTSW |
14 |
21,783,782 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7782:Dusp13b
|
UTSW |
14 |
21,791,404 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8088:Dusp13b
|
UTSW |
14 |
21,791,305 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8176:Dusp13b
|
UTSW |
14 |
21,797,549 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8227:Dusp13b
|
UTSW |
14 |
21,792,869 (GRCm39) |
missense |
probably benign |
|
|
R8520:Dusp13b
|
UTSW |
14 |
21,793,538 (GRCm39) |
nonsense |
probably null |
|
|
R8724:Dusp13b
|
UTSW |
14 |
21,796,475 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8973:Dusp13b
|
UTSW |
14 |
21,784,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9031:Dusp13b
|
UTSW |
14 |
21,790,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9142:Dusp13b
|
UTSW |
14 |
21,792,756 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9258:Dusp13b
|
UTSW |
14 |
21,791,155 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9630:Dusp13b
|
UTSW |
14 |
21,784,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTCACCAAATCGCTCCTG -3'
(R):5'- GTCCCACCTGTCAATGCCAATC -3'
Sequencing Primer
(F):5'- AATCGCTCCTGGAACTTAGG -3'
(R):5'- CCAATCTCTGGCAAGGAGAAATAGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation