Incidental Mutation 'R2417:Cpsf7'
| ID |
249048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf7
|
| Ensembl Gene |
ENSMUSG00000034820 |
| Gene Name |
cleavage and polyadenylation specific factor 7 |
| Synonyms |
5730453I16Rik, C330017N18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2417 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10502630-10525017 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to C
at 10503332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025570]
[ENSMUST00000038379]
|
| AlphaFold |
Q8BTV2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025570
|
| SMART Domains |
Protein: ENSMUSP00000025570
Gene: ENSMUSG00000024668
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
Pfam:Sdh5
|
65 |
138 |
7.6e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038379
|
| SMART Domains |
Protein: ENSMUSP00000038958
Gene: ENSMUSG00000034820
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
63 |
N/A |
INTRINSIC |
|
RRM
|
83 |
158 |
7.31e-8 |
SMART |
|
low complexity region
|
188 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
454 |
471 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cleavage factor Im (CFIm) is one of six factors necessary for correct cleavage and polyadenylation of pre-mRNAs. CFIm is composed of three different subunits of 25, 59, and 68 kDa, and it functions as a heterotetramer, with a dimer of the 25 kDa subunit binding to two of the 59 or 68 kDa subunits. The protein encoded by this gene represents the 59 kDa subunit, which can interact with the splicing factor U2 snRNP Auxiliary Factor (U2AF) 65 to link the splicing and polyadenylation complexes. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130008F23Rik |
T |
A |
17: 41,191,101 (GRCm39) |
K109N |
probably benign |
Het |
| Adcy3 |
T |
C |
12: 4,258,627 (GRCm39) |
V848A |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,741,805 (GRCm39) |
P756S |
probably damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,852,234 (GRCm39) |
K319E |
probably damaging |
Het |
| Bbs7 |
C |
T |
3: 36,646,546 (GRCm39) |
A425T |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,939 (GRCm39) |
R879W |
probably damaging |
Het |
| Cfap65 |
GTCTT |
GTCTTCTT |
1: 74,966,345 (GRCm39) |
|
probably benign |
Het |
| Ctf2 |
A |
G |
7: 127,318,759 (GRCm39) |
V80A |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,894,729 (GRCm39) |
L30P |
probably damaging |
Het |
| Eml1 |
A |
G |
12: 108,502,534 (GRCm39) |
D700G |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,947,579 (GRCm39) |
P613L |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Itih3 |
G |
A |
14: 30,639,621 (GRCm39) |
T400I |
probably benign |
Het |
| Lrrc14 |
T |
A |
15: 76,597,621 (GRCm39) |
L117Q |
probably damaging |
Het |
| Ncbp1 |
C |
T |
4: 46,168,530 (GRCm39) |
S626L |
probably benign |
Het |
| Nefh |
C |
T |
11: 4,889,479 (GRCm39) |
D1047N |
unknown |
Het |
| Ptprm |
T |
G |
17: 67,251,321 (GRCm39) |
T519P |
probably damaging |
Het |
| Sorl1 |
T |
G |
9: 41,892,007 (GRCm39) |
D1881A |
probably damaging |
Het |
| Sox12 |
T |
C |
2: 152,238,717 (GRCm39) |
D301G |
possibly damaging |
Het |
| Vmn2r14 |
C |
T |
5: 109,372,329 (GRCm39) |
E54K |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,309 (GRCm39) |
N628S |
probably damaging |
Het |
| Zfp143 |
G |
A |
7: 109,668,803 (GRCm39) |
V36M |
possibly damaging |
Het |
| Zfp850 |
A |
T |
7: 27,688,608 (GRCm39) |
N533K |
possibly damaging |
Het |
|
| Other mutations in Cpsf7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Cpsf7
|
APN |
19 |
10,517,151 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00870:Cpsf7
|
APN |
19 |
10,517,014 (GRCm39) |
splice site |
probably null |
|
|
IGL01883:Cpsf7
|
APN |
19 |
10,503,387 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02406:Cpsf7
|
APN |
19 |
10,509,352 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02491:Cpsf7
|
APN |
19 |
10,517,001 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02990:Cpsf7
|
APN |
19 |
10,509,159 (GRCm39) |
missense |
probably benign |
|
|
R0003:Cpsf7
|
UTSW |
19 |
10,516,993 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0540:Cpsf7
|
UTSW |
19 |
10,510,682 (GRCm39) |
nonsense |
probably null |
|
|
R0633:Cpsf7
|
UTSW |
19 |
10,509,146 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0662:Cpsf7
|
UTSW |
19 |
10,503,372 (GRCm39) |
start codon destroyed |
probably null |
0.77 |
|
R1309:Cpsf7
|
UTSW |
19 |
10,510,831 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1817:Cpsf7
|
UTSW |
19 |
10,512,803 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2004:Cpsf7
|
UTSW |
19 |
10,518,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2286:Cpsf7
|
UTSW |
19 |
10,512,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4374:Cpsf7
|
UTSW |
19 |
10,517,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5788:Cpsf7
|
UTSW |
19 |
10,518,082 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5801:Cpsf7
|
UTSW |
19 |
10,516,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6823:Cpsf7
|
UTSW |
19 |
10,510,248 (GRCm39) |
nonsense |
probably null |
|
|
R7371:Cpsf7
|
UTSW |
19 |
10,509,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7602:Cpsf7
|
UTSW |
19 |
10,512,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8185:Cpsf7
|
UTSW |
19 |
10,514,224 (GRCm39) |
nonsense |
probably null |
|
|
R8935:Cpsf7
|
UTSW |
19 |
10,509,345 (GRCm39) |
nonsense |
probably null |
|
|
R9450:Cpsf7
|
UTSW |
19 |
10,518,213 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Cpsf7
|
UTSW |
19 |
10,512,882 (GRCm39) |
missense |
probably null |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGGCCCTCTCAGGAGT -3'
(R):5'- TACAGGGAATTATTTTGAGCTGAGAG -3'
Sequencing Primer
(F):5'- TCTCAGGAGTCGAGGCC -3'
(R):5'- TATTTTGAGCTGAGAGAGAAACCAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation