Incidental Mutation 'IGL02011:Ctdsp1'
| ID |
279272 |
| 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 # |
IGL02011
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
T |
A |
14: 49,318,592 (GRCm39) |
|
probably benign |
Het |
| Arg1 |
T |
C |
10: 24,792,275 (GRCm39) |
T215A |
probably benign |
Het |
| Arhgap15 |
A |
T |
2: 43,670,767 (GRCm39) |
K50N |
probably damaging |
Het |
| Cwc22 |
A |
T |
2: 77,751,366 (GRCm39) |
D363E |
possibly damaging |
Het |
| Drd2 |
G |
T |
9: 49,318,258 (GRCm39) |
C400F |
probably damaging |
Het |
| Eef1akmt1 |
A |
T |
14: 57,795,555 (GRCm39) |
Y65N |
probably damaging |
Het |
| Gbp10 |
C |
A |
5: 105,368,967 (GRCm39) |
G291W |
probably damaging |
Het |
| Lrit1 |
T |
A |
14: 36,784,280 (GRCm39) |
V536E |
probably damaging |
Het |
| Or4d1 |
C |
A |
11: 87,805,708 (GRCm39) |
W8L |
probably benign |
Het |
| Or52ab4 |
G |
T |
7: 102,988,056 (GRCm39) |
R265L |
probably damaging |
Het |
| Or9s15 |
T |
A |
1: 92,524,621 (GRCm39) |
Y127N |
probably damaging |
Het |
| Pcdh12 |
C |
T |
18: 38,414,473 (GRCm39) |
G884D |
probably damaging |
Het |
| Pih1d1 |
G |
T |
7: 44,806,156 (GRCm39) |
A31S |
probably damaging |
Het |
| Plcxd2 |
T |
C |
16: 45,785,454 (GRCm39) |
D317G |
probably damaging |
Het |
| Prkaca |
T |
C |
8: 84,717,565 (GRCm39) |
F231S |
probably damaging |
Het |
| Raet1d |
T |
A |
10: 22,247,473 (GRCm39) |
I183K |
probably damaging |
Het |
| Scaper |
A |
G |
9: 55,487,606 (GRCm39) |
F752S |
probably damaging |
Het |
| Shisa9 |
C |
T |
16: 12,062,502 (GRCm39) |
T241I |
possibly damaging |
Het |
| Taar9 |
C |
T |
10: 23,984,477 (GRCm39) |
R319H |
possibly damaging |
Het |
| Unkl |
T |
A |
17: 25,437,565 (GRCm39) |
V365E |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,421,554 (GRCm39) |
S3077F |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,283,399 (GRCm39) |
I566V |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,421,717 (GRCm39) |
T414S |
probably benign |
Het |
| Xpnpep1 |
A |
T |
19: 52,990,896 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,087,035 (GRCm39) |
Q288R |
probably 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 |
|
|
IGL02014: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