Incidental Mutation 'IGL03283:Ctdsp2'
| ID |
415646 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctdsp2
|
| Ensembl Gene |
ENSMUSG00000078429 |
| Gene Name |
CTD small phosphatase 2 |
| Synonyms |
SCP2, OS4, D10Ertd73e |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.561)
|
| Stock # |
IGL03283
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
126814586-126835844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126832266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 91
(T91A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026500]
[ENSMUST00000105255]
[ENSMUST00000105256]
[ENSMUST00000142698]
|
| AlphaFold |
Q8BX07 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026500
|
| SMART Domains |
Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432
| Domain | Start | End | E-Value | Type |
|---|
|
GEL
|
14 |
111 |
9.44e-24 |
SMART |
|
GEL
|
132 |
226 |
8.89e-20 |
SMART |
|
GEL
|
253 |
346 |
1.19e-29 |
SMART |
|
GEL
|
395 |
492 |
2.07e-29 |
SMART |
|
GEL
|
512 |
598 |
4.01e-27 |
SMART |
|
GEL
|
617 |
711 |
2.81e-31 |
SMART |
|
VHP
|
784 |
819 |
1.31e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102105
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105255
AA Change: T91A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000100890
Gene: ENSMUSG00000078429
AA Change: T91A
| Domain | Start | End | E-Value | Type |
|---|
|
CPDc
|
1 |
91 |
3.33e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105256
AA Change: T242A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000100891
Gene: ENSMUSG00000078429
AA Change: T242A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
32 |
N/A |
INTRINSIC |
|
CPDc
|
99 |
242 |
1.45e-74 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142698
|
| SMART Domains |
Protein: ENSMUSP00000117667
Gene: ENSMUSG00000025432
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1d4xg_
|
5 |
53 |
2e-17 |
SMART |
|
PDB:2VIL|A
|
14 |
53 |
2e-14 |
PDB |
|
Blast:GEL
|
14 |
54 |
7e-24 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217738
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bicdl2 |
A |
G |
17: 23,886,155 (GRCm39) |
E361G |
probably damaging |
Het |
| Cd163 |
A |
G |
6: 124,286,158 (GRCm39) |
D236G |
possibly damaging |
Het |
| Cep76 |
A |
T |
18: 67,773,139 (GRCm39) |
I53N |
possibly damaging |
Het |
| Cfap43 |
A |
G |
19: 47,779,851 (GRCm39) |
|
probably benign |
Het |
| Champ1 |
T |
C |
8: 13,928,786 (GRCm39) |
S315P |
probably benign |
Het |
| Cyp4a32 |
G |
T |
4: 115,468,280 (GRCm39) |
K283N |
possibly damaging |
Het |
| Dgki |
A |
G |
6: 36,914,246 (GRCm39) |
|
probably benign |
Het |
| Fads2b |
A |
C |
2: 85,320,751 (GRCm39) |
F351V |
probably damaging |
Het |
| Gabrr2 |
A |
G |
4: 33,082,364 (GRCm39) |
|
probably benign |
Het |
| Garin4 |
C |
T |
1: 190,895,029 (GRCm39) |
R538H |
probably benign |
Het |
| Gm5414 |
G |
T |
15: 101,535,522 (GRCm39) |
Q188K |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,454,365 (GRCm39) |
M50K |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,367,518 (GRCm39) |
M2980V |
probably benign |
Het |
| Pafah2 |
C |
T |
4: 134,145,408 (GRCm39) |
T264M |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,343,996 (GRCm39) |
M2552V |
possibly damaging |
Het |
| Usp3 |
C |
T |
9: 66,469,831 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ctdsp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01417:Ctdsp2
|
APN |
10 |
126,829,743 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02327:Ctdsp2
|
APN |
10 |
126,832,251 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1463:Ctdsp2
|
UTSW |
10 |
126,829,790 (GRCm39) |
splice site |
probably benign |
|
|
R4724:Ctdsp2
|
UTSW |
10 |
126,828,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5327:Ctdsp2
|
UTSW |
10 |
126,831,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Ctdsp2
|
UTSW |
10 |
126,832,326 (GRCm39) |
missense |
probably benign |
|
|
R5994:Ctdsp2
|
UTSW |
10 |
126,831,689 (GRCm39) |
unclassified |
probably benign |
|
|
R6283:Ctdsp2
|
UTSW |
10 |
126,831,749 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8558:Ctdsp2
|
UTSW |
10 |
126,829,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9002:Ctdsp2
|
UTSW |
10 |
126,832,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Ctdsp2
|
UTSW |
10 |
126,832,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Ctdsp2
|
UTSW |
10 |
126,832,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Ctdsp2
|
UTSW |
10 |
126,832,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ctdsp2
|
UTSW |
10 |
126,831,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation