Incidental Mutation 'R6462:Ctdp1'
| ID |
517658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctdp1
|
| Ensembl Gene |
ENSMUSG00000033323 |
| Gene Name |
CTD phosphatase subunit 1 |
| Synonyms |
4930563P03Rik |
| MMRRC Submission |
044596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R6462 (G1)
|
| Quality Score |
215.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
80451174-80512910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80463689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 116
(E116K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123705
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036229]
[ENSMUST00000161003]
|
| AlphaFold |
Q7TSG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036229
AA Change: E904K
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000038938
Gene: ENSMUSG00000033323
AA Change: E904K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
72 |
N/A |
INTRINSIC |
|
CPDc
|
181 |
327 |
1.21e-62 |
SMART |
|
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
|
low complexity region
|
568 |
587 |
N/A |
INTRINSIC |
|
BRCT
|
621 |
708 |
9.62e-7 |
SMART |
|
low complexity region
|
779 |
787 |
N/A |
INTRINSIC |
|
low complexity region
|
879 |
889 |
N/A |
INTRINSIC |
|
PDB:1ONV|B
|
890 |
921 |
2e-6 |
PDB |
|
coiled coil region
|
936 |
959 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160434
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161003
AA Change: E116K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123705
Gene: ENSMUSG00000033323
AA Change: E116K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCP1_C
|
3 |
172 |
3.8e-92 |
PFAM |
|
| Meta Mutation Damage Score |
0.1665 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.6%
|
| Validation Efficiency |
95% (37/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arpc1a |
C |
T |
5: 145,045,197 (GRCm39) |
S362F |
probably benign |
Het |
| Brd9 |
C |
T |
13: 74,088,788 (GRCm39) |
A171V |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,170,621 (GRCm39) |
V62A |
probably damaging |
Het |
| Cdc5l |
G |
A |
17: 45,703,975 (GRCm39) |
R750C |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,193,251 (GRCm39) |
N567S |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epor |
T |
C |
9: 21,870,551 (GRCm39) |
E443G |
probably benign |
Het |
| Fam90a1a |
A |
T |
8: 22,449,298 (GRCm39) |
Q14L |
probably benign |
Het |
| Herc4 |
T |
C |
10: 63,124,880 (GRCm39) |
L498P |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lmod2 |
T |
G |
6: 24,604,300 (GRCm39) |
V425G |
probably benign |
Het |
| Ly6c1 |
T |
A |
15: 74,916,178 (GRCm39) |
|
probably benign |
Het |
| Me2 |
C |
A |
18: 73,908,470 (GRCm39) |
V490F |
probably benign |
Het |
| Mllt3 |
T |
C |
4: 87,692,338 (GRCm39) |
T27A |
probably damaging |
Het |
| Mmp1a |
T |
C |
9: 7,467,039 (GRCm39) |
Y239H |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,373,993 (GRCm39) |
|
probably null |
Het |
| Myo15b |
A |
C |
11: 115,750,268 (GRCm39) |
E346A |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,448,423 (GRCm39) |
F66S |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,101,236 (GRCm39) |
Y137C |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,844,223 (GRCm39) |
F37L |
probably benign |
Het |
| Odf2l |
T |
G |
3: 144,852,672 (GRCm39) |
L472R |
probably damaging |
Het |
| Or10al2 |
T |
C |
17: 37,983,111 (GRCm39) |
Y66H |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,963,873 (GRCm39) |
I463N |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,043,128 (GRCm39) |
T117K |
probably damaging |
Het |
| Ppme1 |
C |
A |
7: 99,987,599 (GRCm39) |
R271M |
probably benign |
Het |
| Rps6ka4 |
T |
G |
19: 6,814,957 (GRCm39) |
E249A |
possibly damaging |
Het |
| Rxfp1 |
T |
A |
3: 79,555,596 (GRCm39) |
I587F |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,217,969 (GRCm39) |
V456A |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,720 (GRCm39) |
I344F |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tbc1d10c |
T |
C |
19: 4,234,893 (GRCm39) |
I389M |
possibly damaging |
Het |
| Tep1 |
A |
G |
14: 51,081,836 (GRCm39) |
F1205L |
probably benign |
Het |
| Tgfbr1 |
T |
A |
4: 47,402,846 (GRCm39) |
H214Q |
probably damaging |
Het |
| Traf3ip2 |
T |
A |
10: 39,515,243 (GRCm39) |
N340K |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,985,966 (GRCm39) |
E362G |
probably benign |
Het |
| Zfp46 |
A |
C |
4: 136,017,924 (GRCm39) |
T253P |
probably damaging |
Het |
|
| Other mutations in Ctdp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00787:Ctdp1
|
APN |
18 |
80,501,907 (GRCm39) |
splice site |
probably null |
|
|
IGL01695:Ctdp1
|
APN |
18 |
80,492,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01865:Ctdp1
|
APN |
18 |
80,499,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02009:Ctdp1
|
APN |
18 |
80,499,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02419:Ctdp1
|
APN |
18 |
80,463,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02580:Ctdp1
|
APN |
18 |
80,493,305 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02699:Ctdp1
|
APN |
18 |
80,493,400 (GRCm39) |
missense |
probably benign |
|
|
IGL03117:Ctdp1
|
APN |
18 |
80,492,716 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03301:Ctdp1
|
APN |
18 |
80,492,849 (GRCm39) |
nonsense |
probably null |
|
|
IGL03385:Ctdp1
|
APN |
18 |
80,493,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0370:Ctdp1
|
UTSW |
18 |
80,492,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Ctdp1
|
UTSW |
18 |
80,490,637 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0730:Ctdp1
|
UTSW |
18 |
80,493,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0894:Ctdp1
|
UTSW |
18 |
80,512,736 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1187:Ctdp1
|
UTSW |
18 |
80,492,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Ctdp1
|
UTSW |
18 |
80,493,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1988:Ctdp1
|
UTSW |
18 |
80,492,616 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2192:Ctdp1
|
UTSW |
18 |
80,492,696 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3709:Ctdp1
|
UTSW |
18 |
80,493,428 (GRCm39) |
nonsense |
probably null |
|
|
R3724:Ctdp1
|
UTSW |
18 |
80,502,482 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3756:Ctdp1
|
UTSW |
18 |
80,495,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4297:Ctdp1
|
UTSW |
18 |
80,493,172 (GRCm39) |
missense |
probably benign |
|
|
R4298:Ctdp1
|
UTSW |
18 |
80,493,172 (GRCm39) |
missense |
probably benign |
|
|
R4640:Ctdp1
|
UTSW |
18 |
80,494,369 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4841:Ctdp1
|
UTSW |
18 |
80,451,941 (GRCm39) |
missense |
unknown |
|
|
R4842:Ctdp1
|
UTSW |
18 |
80,451,941 (GRCm39) |
missense |
unknown |
|
|
R5007:Ctdp1
|
UTSW |
18 |
80,463,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5055:Ctdp1
|
UTSW |
18 |
80,499,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:Ctdp1
|
UTSW |
18 |
80,490,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5870:Ctdp1
|
UTSW |
18 |
80,451,901 (GRCm39) |
missense |
unknown |
|
|
R5896:Ctdp1
|
UTSW |
18 |
80,502,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6242:Ctdp1
|
UTSW |
18 |
80,502,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6255:Ctdp1
|
UTSW |
18 |
80,502,512 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6300:Ctdp1
|
UTSW |
18 |
80,502,455 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6431:Ctdp1
|
UTSW |
18 |
80,494,470 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6512:Ctdp1
|
UTSW |
18 |
80,494,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6537:Ctdp1
|
UTSW |
18 |
80,492,766 (GRCm39) |
missense |
probably benign |
|
|
R6802:Ctdp1
|
UTSW |
18 |
80,463,656 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7477:Ctdp1
|
UTSW |
18 |
80,483,929 (GRCm39) |
splice site |
probably null |
|
|
R8121:Ctdp1
|
UTSW |
18 |
80,499,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Ctdp1
|
UTSW |
18 |
80,493,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8350:Ctdp1
|
UTSW |
18 |
80,512,494 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8513:Ctdp1
|
UTSW |
18 |
80,492,678 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9140:Ctdp1
|
UTSW |
18 |
80,484,043 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9339:Ctdp1
|
UTSW |
18 |
80,492,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Ctdp1
|
UTSW |
18 |
80,492,962 (GRCm39) |
missense |
probably benign |
|
|
R9758:Ctdp1
|
UTSW |
18 |
80,492,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Ctdp1
|
UTSW |
18 |
80,492,550 (GRCm39) |
nonsense |
probably null |
|
|
X0020:Ctdp1
|
UTSW |
18 |
80,493,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTAGAACCTAGTTCCCGTG -3'
(R):5'- ACTTGCCAGACAACCCTCTG -3'
Sequencing Primer
(F):5'- ATGTCTAACAGTCTGACAGTGCCG -3'
(R):5'- GACTCTCCACCTTTTGTCAGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation