Incidental Mutation 'R3701:Cstf1'
| ID |
258509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cstf1
|
| Ensembl Gene |
ENSMUSG00000027498 |
| Gene Name |
cleavage stimulation factor, 3' pre-RNA, subunit 1 |
| Synonyms |
1700057K18Rik |
| MMRRC Submission |
040694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R3701 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
172212601-172224368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 172222312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 357
(T357A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116375]
[ENSMUST00000151511]
|
| AlphaFold |
Q99LC2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116375
AA Change: T357A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112076
Gene: ENSMUSG00000027498
AA Change: T357A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CSTF1_dimer
|
6 |
62 |
5.4e-28 |
PFAM |
|
WD40
|
97 |
136 |
2.61e-3 |
SMART |
|
WD40
|
162 |
201 |
3.29e-9 |
SMART |
|
WD40
|
206 |
245 |
6.88e0 |
SMART |
|
WD40
|
248 |
290 |
9.02e-7 |
SMART |
|
WD40
|
293 |
334 |
1.44e-5 |
SMART |
|
Blast:WD40
|
337 |
382 |
8e-9 |
BLAST |
|
WD40
|
385 |
425 |
2.49e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151511
|
| SMART Domains |
Protein: ENSMUSP00000121178
Gene: ENSMUSG00000027498
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2XZ2|A
|
8 |
59 |
2e-7 |
PDB |
|
WD40
|
97 |
136 |
2.61e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.1931 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3'end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
C |
15: 74,416,864 (GRCm39) |
K757T |
probably damaging |
Het |
| Akr1c19 |
C |
T |
13: 4,293,032 (GRCm39) |
R263C |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,241,264 (GRCm39) |
T605A |
probably benign |
Het |
| Cacna1i |
A |
T |
15: 80,265,272 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,106,003 (GRCm39) |
D62G |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,540,516 (GRCm39) |
K499E |
probably damaging |
Het |
| Cyld |
T |
A |
8: 89,456,179 (GRCm39) |
S407T |
probably benign |
Het |
| Dnph1 |
G |
A |
17: 46,809,637 (GRCm39) |
G101S |
possibly damaging |
Het |
| Entrep1 |
T |
C |
19: 23,956,831 (GRCm39) |
E354G |
probably benign |
Het |
| Esp38 |
A |
T |
17: 40,266,112 (GRCm39) |
R74* |
probably null |
Het |
| Fdxr |
A |
T |
11: 115,160,527 (GRCm39) |
L336Q |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itgb1bp2 |
T |
C |
X: 100,495,293 (GRCm39) |
|
probably benign |
Het |
| Kcnj5 |
T |
C |
9: 32,229,124 (GRCm39) |
T25A |
possibly damaging |
Het |
| Lyn |
A |
G |
4: 3,742,455 (GRCm39) |
H28R |
probably benign |
Het |
| Nbeal1 |
C |
T |
1: 60,290,572 (GRCm39) |
|
probably benign |
Het |
| Nmur2 |
A |
G |
11: 55,931,603 (GRCm39) |
L36P |
probably damaging |
Het |
| Or14j3 |
G |
A |
17: 37,900,717 (GRCm39) |
Q176* |
probably null |
Het |
| Or6c5c |
A |
T |
10: 129,298,821 (GRCm39) |
Y92F |
probably damaging |
Het |
| Or9i14 |
T |
G |
19: 13,792,712 (GRCm39) |
I81L |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,340,881 (GRCm39) |
Y613* |
probably null |
Het |
| Phka2 |
T |
C |
X: 159,316,045 (GRCm39) |
V230A |
possibly damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,145,666 (GRCm39) |
S186P |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,261,798 (GRCm39) |
I171T |
probably benign |
Het |
| Snx14 |
T |
C |
9: 88,302,296 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,064,194 (GRCm39) |
V1208A |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,149,292 (GRCm39) |
F485S |
possibly damaging |
Het |
| Tnfsf4 |
G |
A |
1: 161,244,778 (GRCm39) |
V156I |
possibly damaging |
Het |
| Trdn |
C |
A |
10: 33,210,980 (GRCm39) |
Q391K |
probably damaging |
Het |
| Ttc34 |
T |
C |
4: 154,949,939 (GRCm39) |
F964S |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,249,818 (GRCm39) |
S818P |
probably damaging |
Het |
| Zbed5 |
G |
A |
5: 129,932,000 (GRCm39) |
D650N |
possibly damaging |
Het |
| Zfp446 |
G |
A |
7: 12,712,079 (GRCm39) |
|
probably benign |
Het |
| Zfp592 |
C |
T |
7: 80,687,159 (GRCm39) |
R821* |
probably null |
Het |
| Zfp647 |
G |
A |
15: 76,795,110 (GRCm39) |
R517W |
probably damaging |
Het |
| Zfp983 |
G |
C |
17: 21,880,455 (GRCm39) |
E128Q |
probably damaging |
Het |
|
| Other mutations in Cstf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01658:Cstf1
|
APN |
2 |
172,214,993 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02306:Cstf1
|
APN |
2 |
172,214,891 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02553:Cstf1
|
APN |
2 |
172,219,774 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02756:Cstf1
|
APN |
2 |
172,217,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0066:Cstf1
|
UTSW |
2 |
172,214,976 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0066:Cstf1
|
UTSW |
2 |
172,214,976 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0244:Cstf1
|
UTSW |
2 |
172,219,630 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1448:Cstf1
|
UTSW |
2 |
172,217,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1770:Cstf1
|
UTSW |
2 |
172,214,983 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2055:Cstf1
|
UTSW |
2 |
172,222,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2146:Cstf1
|
UTSW |
2 |
172,217,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3119:Cstf1
|
UTSW |
2 |
172,214,990 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4816:Cstf1
|
UTSW |
2 |
172,214,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4893:Cstf1
|
UTSW |
2 |
172,222,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4991:Cstf1
|
UTSW |
2 |
172,219,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Cstf1
|
UTSW |
2 |
172,219,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5743:Cstf1
|
UTSW |
2 |
172,219,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6386:Cstf1
|
UTSW |
2 |
172,219,816 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7314:Cstf1
|
UTSW |
2 |
172,214,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Cstf1
|
UTSW |
2 |
172,219,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8212:Cstf1
|
UTSW |
2 |
172,219,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Cstf1
|
UTSW |
2 |
172,217,623 (GRCm39) |
missense |
probably benign |
|
|
R8932:Cstf1
|
UTSW |
2 |
172,217,623 (GRCm39) |
missense |
probably benign |
|
|
R9089:Cstf1
|
UTSW |
2 |
172,217,807 (GRCm39) |
missense |
|
|
|
R9240:Cstf1
|
UTSW |
2 |
172,217,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9545:Cstf1
|
UTSW |
2 |
172,212,885 (GRCm39) |
intron |
probably benign |
|
|
R9610:Cstf1
|
UTSW |
2 |
172,214,984 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9611:Cstf1
|
UTSW |
2 |
172,214,984 (GRCm39) |
missense |
probably benign |
0.33 |
|
X0026:Cstf1
|
UTSW |
2 |
172,217,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGCACTGTGGGTTTGAC -3'
(R):5'- ATCGCTGCACGTCATGAAG -3'
Sequencing Primer
(F):5'- TGTGTCACAGACCACCTGC -3'
(R):5'- CACGTCATGAAGCCAGGGTTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation