Incidental Mutation 'IGL01911:Cstf3'
| ID |
179816 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cstf3
|
| Ensembl Gene |
ENSMUSG00000027176 |
| Gene Name |
cleavage stimulation factor, 3' pre-RNA, subunit 3 |
| Synonyms |
4732468G05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL01911
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
104420868-104495774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104476976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 149
(F149S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028599]
|
| AlphaFold |
Q99LI7 |
| PDB Structure |
Crystal Structure of the HAT-C domain of murine CstF-77 [X-RAY DIFFRACTION]
Crystal structure of HAT domain of murine CstF-77 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028599
AA Change: F149S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028599
Gene: ENSMUSG00000027176
AA Change: F149S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
|
HAT
|
45 |
77 |
4.67e-8 |
SMART |
|
HAT
|
79 |
110 |
5.04e-4 |
SMART |
|
HAT
|
117 |
152 |
1.38e-1 |
SMART |
|
HAT
|
163 |
196 |
4.39e-4 |
SMART |
|
HAT
|
229 |
261 |
1.19e0 |
SMART |
|
HAT
|
271 |
303 |
9.12e0 |
SMART |
|
HAT
|
319 |
352 |
2.73e0 |
SMART |
|
HAT
|
354 |
387 |
7.31e-1 |
SMART |
|
HAT
|
424 |
456 |
2.37e0 |
SMART |
|
HAT
|
458 |
494 |
1.46e0 |
SMART |
|
low complexity region
|
597 |
619 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3' end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox3 |
T |
C |
1: 58,191,719 (GRCm39) |
F424L |
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,671,077 (GRCm39) |
T301A |
probably damaging |
Het |
| Atp9a |
C |
A |
2: 168,495,481 (GRCm39) |
R575L |
probably damaging |
Het |
| Brca2 |
G |
A |
5: 150,491,078 (GRCm39) |
D3088N |
probably damaging |
Het |
| Brd3 |
G |
A |
2: 27,349,812 (GRCm39) |
T247I |
probably damaging |
Het |
| Btbd8 |
A |
G |
5: 107,656,446 (GRCm39) |
H903R |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,275,933 (GRCm39) |
N1908S |
probably benign |
Het |
| Ccdc40 |
A |
T |
11: 119,122,797 (GRCm39) |
|
probably null |
Het |
| Cdyl |
T |
C |
13: 36,047,226 (GRCm39) |
V389A |
probably damaging |
Het |
| Col28a1 |
A |
G |
6: 8,014,963 (GRCm39) |
F814S |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,804,784 (GRCm39) |
Y122H |
probably damaging |
Het |
| Dram1 |
T |
C |
10: 88,161,203 (GRCm39) |
D222G |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,512,802 (GRCm39) |
R96H |
probably damaging |
Het |
| Gm11563 |
T |
A |
11: 99,549,527 (GRCm39) |
R76* |
probably null |
Het |
| Gm17093 |
A |
C |
14: 44,758,277 (GRCm39) |
|
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpi1 |
A |
T |
7: 33,920,347 (GRCm39) |
V136D |
probably damaging |
Het |
| Hfm1 |
G |
A |
5: 107,059,410 (GRCm39) |
T204M |
possibly damaging |
Het |
| Itgae |
T |
C |
11: 73,006,963 (GRCm39) |
I403T |
probably damaging |
Het |
| Krt75 |
A |
T |
15: 101,476,537 (GRCm39) |
D409E |
probably damaging |
Het |
| Limk2 |
T |
G |
11: 3,305,340 (GRCm39) |
T76P |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,015,030 (GRCm39) |
M608L |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,899,421 (GRCm39) |
E979* |
probably null |
Het |
| Or52ab7 |
T |
G |
7: 102,978,480 (GRCm39) |
F262L |
probably benign |
Het |
| P2rx7 |
C |
T |
5: 122,796,831 (GRCm39) |
A166V |
probably damaging |
Het |
| Pomgnt2 |
T |
C |
9: 121,811,854 (GRCm39) |
E309G |
probably benign |
Het |
| Sbno2 |
A |
T |
10: 79,905,458 (GRCm39) |
Y199* |
probably null |
Het |
| Setd2 |
C |
A |
9: 110,446,499 (GRCm39) |
|
probably null |
Het |
| Slc66a1 |
A |
G |
4: 139,028,384 (GRCm39) |
V186A |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,222,277 (GRCm39) |
I648F |
probably damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,980 (GRCm39) |
R577W |
probably benign |
Het |
| Znhit6 |
A |
G |
3: 145,283,853 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cstf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02734:Cstf3
|
APN |
2 |
104,439,539 (GRCm39) |
splice site |
probably benign |
|
|
IGL03025:Cstf3
|
APN |
2 |
104,439,276 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Amanita
|
UTSW |
2 |
104,420,926 (GRCm39) |
start gained |
probably benign |
|
|
Ptomaine
|
UTSW |
2 |
104,479,807 (GRCm39) |
missense |
probably benign |
|
|
R0043:Cstf3
|
UTSW |
2 |
104,475,430 (GRCm39) |
splice site |
probably benign |
|
|
R0189:Cstf3
|
UTSW |
2 |
104,482,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0332:Cstf3
|
UTSW |
2 |
104,476,812 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0499:Cstf3
|
UTSW |
2 |
104,479,950 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1476:Cstf3
|
UTSW |
2 |
104,478,564 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1677:Cstf3
|
UTSW |
2 |
104,494,623 (GRCm39) |
intron |
probably benign |
|
|
R1881:Cstf3
|
UTSW |
2 |
104,484,563 (GRCm39) |
missense |
probably benign |
|
|
R1916:Cstf3
|
UTSW |
2 |
104,486,101 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3720:Cstf3
|
UTSW |
2 |
104,483,431 (GRCm39) |
splice site |
probably benign |
|
|
R3813:Cstf3
|
UTSW |
2 |
104,439,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5155:Cstf3
|
UTSW |
2 |
104,482,830 (GRCm39) |
missense |
probably benign |
|
|
R5304:Cstf3
|
UTSW |
2 |
104,493,735 (GRCm39) |
nonsense |
probably null |
|
|
R5564:Cstf3
|
UTSW |
2 |
104,439,347 (GRCm39) |
intron |
probably benign |
|
|
R5869:Cstf3
|
UTSW |
2 |
104,489,585 (GRCm39) |
splice site |
probably null |
|
|
R6172:Cstf3
|
UTSW |
2 |
104,481,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6747:Cstf3
|
UTSW |
2 |
104,477,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Cstf3
|
UTSW |
2 |
104,486,076 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6959:Cstf3
|
UTSW |
2 |
104,479,807 (GRCm39) |
missense |
probably benign |
|
|
R7139:Cstf3
|
UTSW |
2 |
104,483,409 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7143:Cstf3
|
UTSW |
2 |
104,476,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7350:Cstf3
|
UTSW |
2 |
104,439,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7794:Cstf3
|
UTSW |
2 |
104,420,926 (GRCm39) |
start gained |
probably benign |
|
|
R8315:Cstf3
|
UTSW |
2 |
104,420,926 (GRCm39) |
start gained |
probably benign |
|
|
R8873:Cstf3
|
UTSW |
2 |
104,475,355 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9188:Cstf3
|
UTSW |
2 |
104,439,223 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9339:Cstf3
|
UTSW |
2 |
104,493,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Cstf3
|
UTSW |
2 |
104,483,370 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9762:Cstf3
|
UTSW |
2 |
104,494,684 (GRCm39) |
nonsense |
probably null |
|
|
R9801:Cstf3
|
UTSW |
2 |
104,421,024 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
X0013:Cstf3
|
UTSW |
2 |
104,489,622 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Posted On |
2014-05-07 |
Incidental Mutation