Incidental Mutation 'R3813:Cstf3'
| ID |
274132 |
| Institutional Source |
Beutler Lab
|
| 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: 0.965)
|
| Stock # |
R3813 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
104420868-104495774 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104439466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 54
(Y54H)
|
| 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: Y54H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028599
Gene: ENSMUSG00000027176
AA Change: Y54H
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137961
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
T |
C |
5: 89,825,785 (GRCm39) |
D1018G |
possibly damaging |
Het |
| Adgrg1 |
T |
A |
8: 95,738,193 (GRCm39) |
L562Q |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 123,618,117 (GRCm39) |
T1891A |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,267,831 (GRCm39) |
N648S |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 136,013,085 (GRCm39) |
I312F |
probably damaging |
Het |
| Cenpj |
A |
G |
14: 56,790,679 (GRCm39) |
S457P |
probably benign |
Het |
| Cep120 |
G |
A |
18: 53,873,284 (GRCm39) |
|
probably benign |
Het |
| Cfap70 |
T |
A |
14: 20,471,190 (GRCm39) |
I493L |
possibly damaging |
Het |
| Cfap97d1 |
A |
T |
11: 101,882,314 (GRCm39) |
R106S |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,655,209 (GRCm39) |
D31G |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,299,136 (GRCm39) |
Y3179F |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,505,291 (GRCm39) |
|
probably null |
Het |
| Dll4 |
C |
A |
2: 119,161,510 (GRCm39) |
T364N |
possibly damaging |
Het |
| Doc2g |
C |
T |
19: 4,054,466 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
G |
2: 20,793,246 (GRCm39) |
E657G |
probably damaging |
Het |
| Fhdc1 |
A |
G |
3: 84,371,577 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
T |
C |
17: 7,992,154 (GRCm39) |
H514R |
unknown |
Het |
| Gpat3 |
A |
G |
5: 101,039,505 (GRCm39) |
|
probably benign |
Het |
| H2-Q4 |
A |
G |
17: 35,602,071 (GRCm39) |
H311R |
possibly damaging |
Het |
| Hipk4 |
T |
C |
7: 27,223,372 (GRCm39) |
L144S |
probably damaging |
Het |
| Hspa4 |
G |
A |
11: 53,161,806 (GRCm39) |
P449S |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,363,638 (GRCm39) |
V90A |
probably damaging |
Het |
| Klhl38 |
T |
C |
15: 58,185,953 (GRCm39) |
I259V |
probably benign |
Het |
| Krt9 |
T |
A |
11: 100,080,503 (GRCm39) |
E414D |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,051,972 (GRCm39) |
E260G |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,268,560 (GRCm39) |
S4689P |
probably damaging |
Het |
| Manba |
G |
A |
3: 135,269,023 (GRCm39) |
E643K |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,090,799 (GRCm39) |
L7Q |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,057,453 (GRCm39) |
P788S |
probably damaging |
Het |
| Or5d35 |
T |
C |
2: 87,855,105 (GRCm39) |
F13S |
probably damaging |
Het |
| Or6c70 |
T |
A |
10: 129,709,855 (GRCm39) |
Y257F |
probably damaging |
Het |
| Pcdh12 |
G |
A |
18: 38,416,667 (GRCm39) |
R153* |
probably null |
Het |
| Plk3 |
T |
C |
4: 116,990,647 (GRCm39) |
Y89C |
probably damaging |
Het |
| Prss41 |
G |
A |
17: 24,056,596 (GRCm39) |
R160* |
probably null |
Het |
| Rae1 |
T |
A |
2: 172,848,666 (GRCm39) |
|
probably benign |
Het |
| Rbm17 |
T |
A |
2: 11,600,246 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
A |
T |
15: 76,588,694 (GRCm39) |
M1039K |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slit3 |
A |
G |
11: 35,566,806 (GRCm39) |
Y1026C |
probably damaging |
Het |
| Tbl2 |
T |
A |
5: 135,185,375 (GRCm39) |
|
probably null |
Het |
| Tex2 |
G |
A |
11: 106,402,770 (GRCm39) |
T1034I |
unknown |
Het |
| Tmem241 |
A |
T |
18: 12,200,167 (GRCm39) |
|
probably benign |
Het |
| Tmtc1 |
T |
C |
6: 148,256,389 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,930,242 (GRCm39) |
I38N |
probably damaging |
Het |
| Trmt1 |
T |
A |
8: 85,421,846 (GRCm39) |
|
probably benign |
Het |
| Vps37d |
G |
A |
5: 135,103,304 (GRCm39) |
Q113* |
probably null |
Het |
| Zup1 |
T |
C |
10: 33,816,218 (GRCm39) |
E242G |
possibly damaging |
Het |
|
| Other mutations in Cstf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01911:Cstf3
|
APN |
2 |
104,476,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCATATAGTCCACGTAATGCCTTC -3'
(R):5'- AGACATTTAAATCCTCCTTGTCCTG -3'
Sequencing Primer
(F):5'- TTCAGGCAGCGGAATATGTCC -3'
(R):5'- ATCCTCCTTGTCCTGATTATACTATG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation