Incidental Mutation 'R2286:Cpsf7'
| ID |
243318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf7
|
| Ensembl Gene |
ENSMUSG00000034820 |
| Gene Name |
cleavage and polyadenylation specific factor 7 |
| Synonyms |
5730453I16Rik, C330017N18Rik |
| MMRRC Submission |
040285-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2286 (G1)
|
| Quality Score |
204 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10502630-10525017 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10512660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 248
(L248P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038379]
[ENSMUST00000123788]
[ENSMUST00000145210]
|
| AlphaFold |
Q8BTV2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038379
AA Change: L248P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038958
Gene: ENSMUSG00000034820
AA Change: L248P
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123788
|
| SMART Domains |
Protein: ENSMUSP00000119596
Gene: ENSMUSG00000024667
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Transmemb_17
|
15 |
123 |
9.9e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145210
|
| SMART Domains |
Protein: ENSMUSP00000123397
Gene: ENSMUSG00000024667
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Transmemb_17
|
1 |
69 |
2.8e-21 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
T |
5: 8,195,616 (GRCm39) |
R308H |
probably damaging |
Het |
| Alox5ap |
G |
A |
5: 149,222,240 (GRCm39) |
|
probably null |
Het |
| Ap2s1 |
T |
C |
7: 16,482,901 (GRCm39) |
V131A |
possibly damaging |
Het |
| Cdr2l |
GAA |
GA |
11: 115,283,626 (GRCm39) |
|
probably null |
Het |
| Dtd1 |
T |
C |
2: 144,477,786 (GRCm39) |
|
probably null |
Het |
| Eci1 |
A |
G |
17: 24,652,203 (GRCm39) |
D75G |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Luc7l |
A |
G |
17: 26,499,020 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
C |
11: 86,210,515 (GRCm39) |
D542E |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,173,494 (GRCm39) |
S545P |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Or4k37 |
A |
G |
2: 111,159,252 (GRCm39) |
I163V |
probably benign |
Het |
| Rsad2 |
T |
A |
12: 26,500,675 (GRCm39) |
N204I |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,096,571 (GRCm39) |
N592K |
possibly damaging |
Het |
| Sgip1 |
G |
T |
4: 102,724,844 (GRCm39) |
S59I |
possibly damaging |
Het |
| Slc39a5 |
A |
G |
10: 128,231,929 (GRCm39) |
V532A |
probably benign |
Het |
| Smarcc2 |
G |
A |
10: 128,299,612 (GRCm39) |
M123I |
possibly damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,827,551 (GRCm39) |
T185A |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,938,079 (GRCm39) |
E1146G |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,083,203 (GRCm39) |
K1618E |
probably damaging |
Het |
| Vmn2r120 |
A |
G |
17: 57,815,958 (GRCm39) |
L799P |
probably damaging |
Het |
| Vps26c |
C |
T |
16: 94,313,112 (GRCm39) |
E60K |
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 |
|
R2417:Cpsf7
|
UTSW |
19 |
10,503,332 (GRCm39) |
start gained |
probably benign |
|
|
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'- TGGGCAGTAACATTAGCTCTG -3'
(R):5'- TGTAAGTATCTGGTGGAGGCCC -3'
Sequencing Primer
(F):5'- GCAGTAACATTAGCTCTGTTTGC -3'
(R):5'- AGGCCCCACTGTAGCATTTG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation