Incidental Mutation 'IGL02306:Cstf1'
| ID |
287613 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cstf1
|
| Ensembl Gene |
ENSMUSG00000027498 |
| Gene Name |
cleavage stimulation factor, 3' pre-RNA, subunit 1 |
| Synonyms |
1700057K18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL02306
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
172212601-172224368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 172214891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 4
(T4I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028997]
[ENSMUST00000109139]
[ENSMUST00000109140]
[ENSMUST00000116375]
[ENSMUST00000151511]
|
| AlphaFold |
Q99LC2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028997
|
| SMART Domains |
Protein: ENSMUSP00000028997
Gene: ENSMUSG00000027496
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
146 |
396 |
2.25e-99 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109139
|
| SMART Domains |
Protein: ENSMUSP00000104767
Gene: ENSMUSG00000027496
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
124 |
374 |
2.25e-99 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109140
|
| SMART Domains |
Protein: ENSMUSP00000104768
Gene: ENSMUSG00000027496
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
124 |
374 |
2.25e-99 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116375
AA Change: T4I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112076
Gene: ENSMUSG00000027498
AA Change: T4I
| 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 |
noncoding transcript
Transcript: ENSMUST00000126107
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151511
AA Change: T4I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000121178
Gene: ENSMUSG00000027498
AA Change: T4I
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2XZ2|A
|
8 |
59 |
2e-7 |
PDB |
|
WD40
|
97 |
136 |
2.61e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,952,044 (GRCm39) |
Y680C |
probably damaging |
Het |
| Abcb11 |
C |
T |
2: 69,095,801 (GRCm39) |
W846* |
probably null |
Het |
| Adam34 |
G |
A |
8: 44,103,522 (GRCm39) |
R708C |
probably benign |
Het |
| Adam6a |
T |
A |
12: 113,509,343 (GRCm39) |
L572Q |
possibly damaging |
Het |
| Aldoart2 |
A |
G |
12: 55,612,489 (GRCm39) |
Y138C |
probably damaging |
Het |
| Amigo1 |
T |
A |
3: 108,095,302 (GRCm39) |
F267Y |
probably benign |
Het |
| Car7 |
A |
G |
8: 105,275,630 (GRCm39) |
Y137C |
probably damaging |
Het |
| Ccar2 |
A |
T |
14: 70,379,471 (GRCm39) |
M509K |
probably benign |
Het |
| Cd160 |
A |
T |
3: 96,716,139 (GRCm39) |
I17N |
possibly damaging |
Het |
| Cmya5 |
C |
T |
13: 93,234,527 (GRCm39) |
G187D |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,018,701 (GRCm39) |
V555E |
possibly damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,732,008 (GRCm39) |
K250E |
probably damaging |
Het |
| Deaf1 |
T |
C |
7: 140,904,094 (GRCm39) |
|
probably null |
Het |
| Dse |
C |
T |
10: 34,036,130 (GRCm39) |
E249K |
probably damaging |
Het |
| E4f1 |
G |
T |
17: 24,665,903 (GRCm39) |
R88S |
probably damaging |
Het |
| Fam83a |
A |
C |
15: 57,858,704 (GRCm39) |
D248A |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,826,437 (GRCm39) |
D217G |
probably benign |
Het |
| Hadhb |
T |
A |
5: 30,371,747 (GRCm39) |
L66Q |
probably null |
Het |
| Kalrn |
T |
C |
16: 34,130,897 (GRCm39) |
E440G |
probably damaging |
Het |
| Kif3b |
A |
G |
2: 153,162,572 (GRCm39) |
Y527C |
probably damaging |
Het |
| Krt4 |
T |
C |
15: 101,829,740 (GRCm39) |
I263V |
probably benign |
Het |
| Krtap29-1 |
A |
T |
11: 99,869,092 (GRCm39) |
V263E |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,954,703 (GRCm39) |
L72P |
probably damaging |
Het |
| Mylpf |
T |
A |
7: 126,812,330 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,560,750 (GRCm39) |
I776F |
probably benign |
Het |
| Nedd4l |
T |
G |
18: 65,306,025 (GRCm39) |
S292R |
possibly damaging |
Het |
| Nlrc3 |
A |
C |
16: 3,782,688 (GRCm39) |
D240E |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,890,497 (GRCm39) |
I7345N |
unknown |
Het |
| Or4c102 |
A |
T |
2: 88,422,950 (GRCm39) |
K267N |
probably benign |
Het |
| Ostn |
A |
T |
16: 27,165,691 (GRCm39) |
S127C |
probably damaging |
Het |
| Patl1 |
A |
G |
19: 11,920,250 (GRCm39) |
K735E |
possibly damaging |
Het |
| Pde12 |
A |
G |
14: 26,389,533 (GRCm39) |
L392P |
possibly damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,665,585 (GRCm39) |
I213V |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,183,059 (GRCm39) |
Y948F |
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,456,353 (GRCm39) |
V71E |
probably damaging |
Het |
| Prlr |
C |
T |
15: 10,328,760 (GRCm39) |
P412S |
probably benign |
Het |
| Prmt9 |
A |
G |
8: 78,287,447 (GRCm39) |
K196R |
probably benign |
Het |
| Rundc3a |
T |
A |
11: 102,291,764 (GRCm39) |
L387Q |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,664,459 (GRCm39) |
I1611V |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,677,744 (GRCm39) |
|
probably null |
Het |
| Scart1 |
T |
C |
7: 139,803,269 (GRCm39) |
C278R |
probably damaging |
Het |
| Sfxn2 |
T |
A |
19: 46,578,987 (GRCm39) |
M240K |
probably damaging |
Het |
| Skor2 |
T |
C |
18: 76,950,374 (GRCm39) |
S901P |
probably benign |
Het |
| Smad4 |
T |
C |
18: 73,795,940 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
T |
G |
4: 130,258,893 (GRCm39) |
C100W |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,097,511 (GRCm39) |
D19E |
probably damaging |
Het |
| Sult1d1 |
T |
A |
5: 87,703,914 (GRCm39) |
|
probably benign |
Het |
| Wdr59 |
G |
A |
8: 112,219,365 (GRCm39) |
L231F |
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 |
|
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 |
|
R3701:Cstf1
|
UTSW |
2 |
172,222,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation