Incidental Mutation 'IGL02014:Ctdsp1'
| ID |
279274 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctdsp1
|
| Ensembl Gene |
ENSMUSG00000026176 |
| Gene Name |
CTD small phosphatase 1 |
| Synonyms |
SCP1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02014
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74430668-74436444 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 74433175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114526
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027367]
[ENSMUST00000152659]
|
| AlphaFold |
P58466 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027367
|
| SMART Domains |
Protein: ENSMUSP00000027367
Gene: ENSMUSG00000026176
| Domain | Start | End | E-Value | Type |
|---|
|
CPDc
|
89 |
232 |
9.18e-77 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141175
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152659
|
| SMART Domains |
Protein: ENSMUSP00000114526
Gene: ENSMUSG00000026176
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
13 |
N/A |
INTRINSIC |
|
PDB:1T9Z|A
|
83 |
131 |
2e-26 |
PDB |
|
Blast:CPDc
|
96 |
131 |
2e-16 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd44 |
C |
T |
1: 54,696,779 (GRCm39) |
G654S |
possibly damaging |
Het |
| Ark2c |
A |
T |
18: 77,556,055 (GRCm39) |
V167E |
probably damaging |
Het |
| Arl14ep |
C |
T |
2: 106,797,458 (GRCm39) |
A180T |
probably benign |
Het |
| Btbd9 |
A |
C |
17: 30,736,124 (GRCm39) |
S330A |
probably damaging |
Het |
| Cep78 |
T |
C |
19: 15,962,102 (GRCm39) |
D48G |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,501,681 (GRCm39) |
|
probably benign |
Het |
| Gapvd1 |
G |
A |
2: 34,594,203 (GRCm39) |
P949L |
probably damaging |
Het |
| Gas6 |
T |
C |
8: 13,518,359 (GRCm39) |
T492A |
possibly damaging |
Het |
| Igbp1b |
A |
T |
6: 138,634,601 (GRCm39) |
V281D |
probably benign |
Het |
| Mapk8ip3 |
G |
A |
17: 25,122,254 (GRCm39) |
|
probably benign |
Het |
| Met |
T |
C |
6: 17,527,256 (GRCm39) |
|
probably benign |
Het |
| Mmachc |
A |
G |
4: 116,560,907 (GRCm39) |
F196S |
probably damaging |
Het |
| Or52z13 |
T |
A |
7: 103,246,937 (GRCm39) |
I138N |
probably damaging |
Het |
| Pah |
A |
T |
10: 87,417,789 (GRCm39) |
T427S |
probably benign |
Het |
| Pcdh7 |
C |
A |
5: 57,877,045 (GRCm39) |
P200Q |
probably benign |
Het |
| Pde3a |
C |
A |
6: 141,404,870 (GRCm39) |
P365Q |
probably null |
Het |
| Pkm |
A |
G |
9: 59,576,244 (GRCm39) |
T143A |
possibly damaging |
Het |
| Plppr4 |
A |
G |
3: 117,129,222 (GRCm39) |
S82P |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,777,260 (GRCm39) |
E299G |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,729,320 (GRCm39) |
P1086S |
probably damaging |
Het |
| Spats1 |
G |
A |
17: 45,772,166 (GRCm39) |
R81C |
probably benign |
Het |
| Spmap2l |
T |
A |
5: 77,195,002 (GRCm39) |
F59I |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,649,778 (GRCm39) |
N86S |
possibly damaging |
Het |
| Vezt |
T |
A |
10: 93,832,811 (GRCm39) |
Y10F |
probably benign |
Het |
| Vmn1r174 |
C |
A |
7: 23,453,583 (GRCm39) |
P83H |
probably damaging |
Het |
| Vmn1r218 |
C |
T |
13: 23,321,001 (GRCm39) |
T36I |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,794,462 (GRCm39) |
N889K |
possibly damaging |
Het |
|
| Other mutations in Ctdsp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01954:Ctdsp1
|
APN |
1 |
74,433,242 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02011:Ctdsp1
|
APN |
1 |
74,433,175 (GRCm39) |
splice site |
probably benign |
|
|
IGL02205:Ctdsp1
|
APN |
1 |
74,432,993 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03011:Ctdsp1
|
APN |
1 |
74,434,606 (GRCm39) |
unclassified |
probably benign |
|
|
budgie
|
UTSW |
1 |
74,434,676 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
lorikeet
|
UTSW |
1 |
74,433,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0811:Ctdsp1
|
UTSW |
1 |
74,433,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Ctdsp1
|
UTSW |
1 |
74,433,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Ctdsp1
|
UTSW |
1 |
74,433,823 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5777:Ctdsp1
|
UTSW |
1 |
74,433,227 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7328:Ctdsp1
|
UTSW |
1 |
74,433,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9020:Ctdsp1
|
UTSW |
1 |
74,434,676 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9106:Ctdsp1
|
UTSW |
1 |
74,433,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9163:Ctdsp1
|
UTSW |
1 |
74,434,126 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9226:Ctdsp1
|
UTSW |
1 |
74,434,735 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2015-04-16 |
Incidental Mutation