Incidental Mutation 'R7314:Cstf1'
| ID |
567814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cstf1
|
| Ensembl Gene |
ENSMUSG00000027498 |
| Gene Name |
cleavage stimulation factor, 3' pre-RNA, subunit 1 |
| Synonyms |
1700057K18Rik |
| MMRRC Submission |
045412-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R7314 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
172212601-172224368 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 172214954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 25
(D25G)
|
| 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 damaging
Transcript: ENSMUST00000116375
AA Change: D25G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112076
Gene: ENSMUSG00000027498
AA Change: D25G
| 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 damaging
Transcript: ENSMUST00000151511
AA Change: D25G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121178
Gene: ENSMUSG00000027498
AA Change: D25G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2XZ2|A
|
8 |
59 |
2e-7 |
PDB |
|
WD40
|
97 |
136 |
2.61e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
G |
A |
7: 29,989,320 (GRCm39) |
V177I |
unknown |
Het |
| 4930596D02Rik |
A |
G |
14: 35,533,606 (GRCm39) |
V54A |
probably benign |
Het |
| Abcc10 |
C |
A |
17: 46,626,330 (GRCm39) |
A704S |
probably damaging |
Het |
| Adss2 |
A |
G |
1: 177,595,317 (GRCm39) |
W408R |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,135,414 (GRCm39) |
E548G |
probably damaging |
Het |
| C4b |
C |
T |
17: 34,959,330 (GRCm39) |
V415I |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,706,343 (GRCm39) |
V942A |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,612,819 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
G |
A |
11: 65,880,677 (GRCm39) |
T2640I |
probably benign |
Het |
| Dnase2b |
T |
C |
3: 146,288,151 (GRCm39) |
I315V |
probably damaging |
Het |
| Endod1 |
T |
C |
9: 14,268,295 (GRCm39) |
S397G |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,504,090 (GRCm39) |
V171A |
possibly damaging |
Het |
| Ghdc |
T |
C |
11: 100,659,928 (GRCm39) |
E273G |
probably damaging |
Het |
| Hmgn2-ps |
C |
T |
8: 73,058,839 (GRCm39) |
G63R |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,645,541 (GRCm39) |
S409T |
probably benign |
Het |
| Ireb2 |
T |
C |
9: 54,799,794 (GRCm39) |
Y412H |
probably damaging |
Het |
| Jph4 |
TCCATTCTCGTATACCCCA |
TCCA |
14: 55,347,196 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
A |
G |
16: 19,775,755 (GRCm39) |
Y268H |
probably damaging |
Het |
| Krt16 |
T |
C |
11: 100,138,695 (GRCm39) |
D197G |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,277,563 (GRCm39) |
K594E |
possibly damaging |
Het |
| Lgi3 |
T |
C |
14: 70,769,552 (GRCm39) |
F84S |
probably damaging |
Het |
| Lingo3 |
T |
C |
10: 80,670,707 (GRCm39) |
I408V |
possibly damaging |
Het |
| Map3k7 |
G |
T |
4: 31,985,769 (GRCm39) |
E231* |
probably null |
Het |
| Nrip1 |
A |
G |
16: 76,088,078 (GRCm39) |
S1160P |
probably benign |
Het |
| Oas1g |
A |
T |
5: 121,016,526 (GRCm39) |
L301Q |
probably damaging |
Het |
| Obox3 |
T |
A |
7: 15,361,079 (GRCm39) |
Q62L |
possibly damaging |
Het |
| Or5d37 |
A |
G |
2: 87,923,458 (GRCm39) |
L274P |
probably benign |
Het |
| Or6b13 |
A |
T |
7: 139,782,326 (GRCm39) |
V119D |
probably damaging |
Het |
| Parp8 |
G |
T |
13: 117,004,996 (GRCm39) |
F727L |
probably benign |
Het |
| Pcdha1 |
T |
C |
18: 37,064,553 (GRCm39) |
Y406H |
probably damaging |
Het |
| Pcdhgb8 |
A |
G |
18: 37,896,052 (GRCm39) |
D374G |
probably damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,289,783 (GRCm39) |
L539* |
probably null |
Het |
| Phkb |
A |
G |
8: 86,669,021 (GRCm39) |
|
probably null |
Het |
| Ppp1r13b |
T |
C |
12: 111,812,790 (GRCm39) |
E143G |
probably damaging |
Het |
| Rpap2 |
T |
C |
5: 107,768,245 (GRCm39) |
V361A |
probably damaging |
Het |
| Setd4 |
T |
C |
16: 93,384,711 (GRCm39) |
T326A |
probably benign |
Het |
| Smad9 |
A |
G |
3: 54,696,744 (GRCm39) |
N270D |
probably benign |
Het |
| Sntg2 |
A |
G |
12: 30,317,107 (GRCm39) |
S172P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,154,150 (GRCm39) |
L101P |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Tmprss11f |
T |
C |
5: 86,671,912 (GRCm39) |
T427A |
possibly damaging |
Het |
| Trhr2 |
A |
G |
8: 123,085,489 (GRCm39) |
V165A |
possibly damaging |
Het |
| Ubr3 |
T |
A |
2: 69,821,944 (GRCm39) |
L1402Q |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,850,622 (GRCm39) |
|
probably null |
Het |
| Zfp369 |
T |
C |
13: 65,439,918 (GRCm39) |
S201P |
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 |
|
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 |
|
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'- AGCAAGGTCGCCATCCTAAG -3'
(R):5'- ATCCACATTGAAGGTACACAGGAG -3'
Sequencing Primer
(F):5'- ACACCTACTGAAGCTGAGATTG -3'
(R):5'- GGAGTGATTTCATAAACTGCCCCG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation