Incidental Mutation 'R5219:Ctdp1'
| ID |
402247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctdp1
|
| Ensembl Gene |
ENSMUSG00000033323 |
| Gene Name |
CTD phosphatase subunit 1 |
| Synonyms |
4930563P03Rik |
| MMRRC Submission |
042792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R5219 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
80451174-80512910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80490675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 715
(L715P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036229]
|
| AlphaFold |
Q7TSG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036229
AA Change: L715P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038938
Gene: ENSMUSG00000033323
AA Change: L715P
| 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 |
|
| Meta Mutation Damage Score |
0.5037 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (68/70) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700063H04Rik |
A |
G |
6: 122,369,299 (GRCm39) |
|
noncoding transcript |
Het |
| 4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
| A2m |
A |
G |
6: 121,653,909 (GRCm39) |
H1414R |
possibly damaging |
Het |
| A530064D06Rik |
G |
T |
17: 48,470,518 (GRCm39) |
D154E |
possibly damaging |
Het |
| Adam34 |
C |
T |
8: 44,104,461 (GRCm39) |
D395N |
probably benign |
Het |
| Agl |
A |
G |
3: 116,572,370 (GRCm39) |
V195A |
possibly damaging |
Het |
| Aip |
T |
C |
19: 4,165,180 (GRCm39) |
I230V |
probably benign |
Het |
| Akap10 |
A |
C |
11: 61,813,617 (GRCm39) |
S43A |
probably benign |
Het |
| Ap3d1 |
T |
C |
10: 80,545,651 (GRCm39) |
E1026G |
probably benign |
Het |
| Arid5b |
T |
A |
10: 68,113,940 (GRCm39) |
K32N |
probably benign |
Het |
| Atp6v0a2 |
C |
A |
5: 124,790,249 (GRCm39) |
N477K |
probably damaging |
Het |
| Atr |
A |
C |
9: 95,763,291 (GRCm39) |
I1062L |
probably damaging |
Het |
| Ces2h |
T |
C |
8: 105,743,278 (GRCm39) |
V171A |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,342,215 (GRCm39) |
|
probably null |
Het |
| Cpne3 |
A |
T |
4: 19,526,366 (GRCm39) |
L391H |
probably damaging |
Het |
| Dcxr |
T |
C |
11: 120,616,314 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
C |
T |
2: 5,919,627 (GRCm39) |
A585T |
probably benign |
Het |
| Elapor2 |
G |
T |
5: 9,511,486 (GRCm39) |
W949C |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,803,510 (GRCm39) |
A1705T |
probably damaging |
Het |
| Galr1 |
A |
T |
18: 82,412,110 (GRCm39) |
V252D |
probably damaging |
Het |
| Gm11677 |
A |
G |
11: 111,616,225 (GRCm39) |
|
noncoding transcript |
Het |
| Gp6 |
A |
G |
7: 4,371,998 (GRCm39) |
V252A |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,610,785 (GRCm39) |
V176A |
probably benign |
Het |
| Irx2 |
G |
C |
13: 72,779,420 (GRCm39) |
A235P |
probably damaging |
Het |
| Klk1b11 |
G |
A |
7: 43,649,120 (GRCm39) |
C219Y |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,367,785 (GRCm39) |
V431E |
probably benign |
Het |
| Lmntd2 |
T |
C |
7: 140,791,387 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
A |
T |
7: 27,026,746 (GRCm39) |
W500R |
probably benign |
Het |
| Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,668,711 (GRCm39) |
I127M |
probably benign |
Het |
| Nxph1 |
T |
A |
6: 9,247,765 (GRCm39) |
Y245* |
probably null |
Het |
| Or4a73 |
C |
T |
2: 89,421,046 (GRCm39) |
V138I |
probably benign |
Het |
| Or7s1a-ps1 |
T |
C |
9: 18,843,990 (GRCm39) |
|
probably benign |
Het |
| Or8g34 |
G |
T |
9: 39,373,563 (GRCm39) |
V276L |
probably benign |
Het |
| Or9k7 |
T |
A |
10: 130,046,793 (GRCm39) |
T69S |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,447,966 (GRCm39) |
F71S |
probably damaging |
Het |
| Pccb |
A |
T |
9: 100,867,262 (GRCm39) |
Y404* |
probably null |
Het |
| Pde2a |
A |
C |
7: 101,153,811 (GRCm39) |
I460L |
probably damaging |
Het |
| Ppp3cb |
G |
T |
14: 20,578,263 (GRCm39) |
C162* |
probably null |
Het |
| Prickle2 |
T |
C |
6: 92,353,511 (GRCm39) |
S652G |
probably benign |
Het |
| Prss38 |
A |
G |
11: 59,266,309 (GRCm39) |
|
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,821,813 (GRCm39) |
|
probably benign |
Het |
| Rgp1 |
C |
T |
4: 43,579,440 (GRCm39) |
A16V |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
| Scnn1g |
T |
A |
7: 121,365,489 (GRCm39) |
Y514N |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,896,501 (GRCm39) |
D134G |
probably benign |
Het |
| Slc38a3 |
A |
G |
9: 107,529,111 (GRCm39) |
|
probably benign |
Het |
| Slc6a1 |
A |
T |
6: 114,287,182 (GRCm39) |
M388L |
probably benign |
Het |
| Ssbp3 |
A |
T |
4: 106,904,655 (GRCm39) |
N350I |
probably damaging |
Het |
| Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
| Sult1e1 |
A |
T |
5: 87,726,445 (GRCm39) |
I223N |
probably damaging |
Het |
| Tcf20 |
C |
A |
15: 82,740,582 (GRCm39) |
G290C |
probably damaging |
Het |
| Tekt2 |
G |
T |
4: 126,216,057 (GRCm39) |
T412K |
possibly damaging |
Het |
| Trabd2b |
A |
G |
4: 114,460,007 (GRCm39) |
T382A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubr4 |
C |
A |
4: 139,204,543 (GRCm39) |
Y4818* |
probably null |
Het |
| Vmn1r204 |
A |
T |
13: 22,741,069 (GRCm39) |
R233S |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,382 (GRCm39) |
Y165H |
probably damaging |
Het |
| Yaf2 |
A |
C |
15: 93,183,355 (GRCm39) |
C152G |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 6,820,703 (GRCm39) |
F751I |
probably benign |
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 |
|
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 |
|
R6462:Ctdp1
|
UTSW |
18 |
80,463,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TCCTCCTGAAAGCACTGCTG -3'
(R):5'- CATGCAGCTCTATCCTAAGAGG -3'
Sequencing Primer
(F):5'- TTTACAGAAACTCCTGGCCCAGTG -3'
(R):5'- GAGGAACTTAAGACCCCACTCTGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation