Incidental Mutation 'R7612:Cpsf1'
ID |
588683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
045680-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R7612 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76481209 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 1216
(V1216I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000160784]
[ENSMUST00000161612]
[ENSMUST00000161732]
[ENSMUST00000162503]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
AlphaFold |
Q9EPU4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071898
AA Change: V1216I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: V1216I
Domain | Start | End | E-Value | Type |
Pfam:MMS1_N
|
92 |
684 |
7.2e-42 |
PFAM |
low complexity region
|
902 |
910 |
N/A |
INTRINSIC |
Pfam:CPSF_A
|
1071 |
1407 |
4.9e-94 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160784
|
SMART Domains |
Protein: ENSMUSP00000124666 Gene: ENSMUSG00000022550
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
Pfam:ABC1
|
188 |
304 |
9.2e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161612
|
SMART Domains |
Protein: ENSMUSP00000124701 Gene: ENSMUSG00000022550
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161732
|
SMART Domains |
Protein: ENSMUSP00000125482 Gene: ENSMUSG00000022550
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162503
|
SMART Domains |
Protein: ENSMUSP00000125055 Gene: ENSMUSG00000022550
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
Pfam:ABC1
|
188 |
304 |
2.3e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229287
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230157
AA Change: V1216I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Meta Mutation Damage Score |
0.0829 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (51/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057N15Rik |
A |
T |
16: 88,570,496 (GRCm39) |
Y181* |
probably null |
Het |
Adgrf2 |
T |
G |
17: 43,025,271 (GRCm39) |
K71T |
possibly damaging |
Het |
Brca2 |
T |
A |
5: 150,464,076 (GRCm39) |
M1280K |
probably benign |
Het |
Card14 |
T |
C |
11: 119,224,405 (GRCm39) |
S541P |
possibly damaging |
Het |
Cd19 |
G |
T |
7: 126,013,496 (GRCm39) |
Q98K |
possibly damaging |
Het |
Ceacam5 |
T |
A |
7: 17,493,341 (GRCm39) |
I788N |
possibly damaging |
Het |
Cpne2 |
A |
T |
8: 95,284,048 (GRCm39) |
I290L |
probably benign |
Het |
Csad |
G |
A |
15: 102,097,357 (GRCm39) |
|
probably benign |
Het |
Depdc7 |
T |
A |
2: 104,560,853 (GRCm39) |
Q47L |
probably benign |
Het |
Dnajc6 |
T |
A |
4: 101,455,123 (GRCm39) |
S105T |
probably benign |
Het |
Dsg4 |
C |
A |
18: 20,604,047 (GRCm39) |
P838Q |
probably damaging |
Het |
Efcab3 |
T |
A |
11: 104,999,647 (GRCm39) |
Y179N |
possibly damaging |
Het |
Egfr |
A |
T |
11: 16,809,025 (GRCm39) |
N73I |
possibly damaging |
Het |
Eya2 |
T |
C |
2: 165,529,657 (GRCm39) |
|
probably null |
Het |
Fubp1 |
A |
G |
3: 151,923,652 (GRCm39) |
Q123R |
possibly damaging |
Het |
Galns |
A |
G |
8: 123,311,693 (GRCm39) |
I439T |
possibly damaging |
Het |
Gm57858 |
A |
T |
3: 36,079,506 (GRCm39) |
S261R |
possibly damaging |
Het |
Gsdmd |
T |
G |
15: 75,736,803 (GRCm39) |
L140R |
probably damaging |
Het |
Hcrtr1 |
A |
G |
4: 130,029,478 (GRCm39) |
V201A |
possibly damaging |
Het |
Ildr2 |
T |
A |
1: 166,135,361 (GRCm39) |
M371K |
probably benign |
Het |
Kalrn |
G |
A |
16: 34,134,582 (GRCm39) |
T412I |
possibly damaging |
Het |
Kdm5b |
C |
T |
1: 134,552,656 (GRCm39) |
Q1211* |
probably null |
Het |
Loxhd1 |
T |
C |
18: 77,517,671 (GRCm39) |
S1840P |
possibly damaging |
Het |
Maml2 |
A |
G |
9: 13,617,781 (GRCm39) |
M376V |
probably benign |
Het |
Mgat4e |
T |
C |
1: 134,469,745 (GRCm39) |
T100A |
probably damaging |
Het |
Myo18b |
T |
A |
5: 113,013,168 (GRCm39) |
T812S |
possibly damaging |
Het |
Nanp |
T |
A |
2: 150,881,158 (GRCm39) |
E30V |
probably null |
Het |
Or2w1b |
G |
T |
13: 21,300,217 (GRCm39) |
M118I |
probably damaging |
Het |
Or4c107 |
T |
G |
2: 88,788,849 (GRCm39) |
L13R |
probably damaging |
Het |
Or5ac21 |
A |
T |
16: 59,123,990 (GRCm39) |
H158L |
probably damaging |
Het |
Parp3 |
T |
A |
9: 106,351,393 (GRCm39) |
N241I |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,175,610 (GRCm39) |
N1924D |
probably benign |
Het |
Pou1f1 |
A |
G |
16: 65,326,811 (GRCm39) |
N137S |
probably damaging |
Het |
Ptgdr |
A |
G |
14: 45,096,094 (GRCm39) |
M206T |
probably damaging |
Het |
Ptprd |
T |
C |
4: 76,004,696 (GRCm39) |
T20A |
probably benign |
Het |
Rexo1 |
G |
C |
10: 80,385,497 (GRCm39) |
S520R |
probably benign |
Het |
Sgip1 |
T |
A |
4: 102,727,005 (GRCm39) |
S94T |
probably benign |
Het |
Slc35e3 |
A |
G |
10: 117,576,785 (GRCm39) |
V182A |
probably benign |
Het |
Slfn2 |
A |
G |
11: 82,961,089 (GRCm39) |
E356G |
probably damaging |
Het |
Spry4 |
C |
A |
18: 38,722,982 (GRCm39) |
K260N |
probably damaging |
Het |
Sync |
A |
T |
4: 129,187,375 (GRCm39) |
M136L |
probably benign |
Het |
Tm7sf2 |
A |
G |
19: 6,120,638 (GRCm39) |
V425A |
probably benign |
Het |
Trim21 |
T |
A |
7: 102,208,742 (GRCm39) |
M326L |
probably benign |
Het |
Trim62 |
A |
G |
4: 128,790,677 (GRCm39) |
Q158R |
probably benign |
Het |
Tubgcp2 |
T |
A |
7: 139,580,964 (GRCm39) |
K663M |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,202,316 (GRCm39) |
I1094V |
probably damaging |
Het |
Urb1 |
A |
G |
16: 90,594,798 (GRCm39) |
S245P |
probably damaging |
Het |
Vwa3a |
A |
T |
7: 120,351,838 (GRCm39) |
D34V |
probably null |
Het |
Zbtb45 |
C |
T |
7: 12,741,326 (GRCm39) |
A311T |
possibly damaging |
Het |
Zfp655 |
T |
C |
5: 145,173,999 (GRCm39) |
S135P |
unknown |
Het |
|
Other mutations in Cpsf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00499:Cpsf1
|
APN |
15 |
76,484,416 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01013:Cpsf1
|
APN |
15 |
76,483,497 (GRCm39) |
nonsense |
probably null |
|
IGL01599:Cpsf1
|
APN |
15 |
76,480,741 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02008:Cpsf1
|
APN |
15 |
76,487,291 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02291:Cpsf1
|
APN |
15 |
76,487,021 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02901:Cpsf1
|
APN |
15 |
76,483,696 (GRCm39) |
nonsense |
probably null |
|
IGL02929:Cpsf1
|
APN |
15 |
76,486,327 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03402:Cpsf1
|
APN |
15 |
76,480,203 (GRCm39) |
splice site |
probably null |
|
R0005:Cpsf1
|
UTSW |
15 |
76,484,880 (GRCm39) |
critical splice donor site |
probably null |
|
R0044:Cpsf1
|
UTSW |
15 |
76,483,753 (GRCm39) |
missense |
probably benign |
|
R0044:Cpsf1
|
UTSW |
15 |
76,483,753 (GRCm39) |
missense |
probably benign |
|
R0487:Cpsf1
|
UTSW |
15 |
76,481,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R0510:Cpsf1
|
UTSW |
15 |
76,487,857 (GRCm39) |
intron |
probably benign |
|
R0630:Cpsf1
|
UTSW |
15 |
76,486,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R0780:Cpsf1
|
UTSW |
15 |
76,484,577 (GRCm39) |
missense |
probably benign |
0.17 |
R1617:Cpsf1
|
UTSW |
15 |
76,486,570 (GRCm39) |
nonsense |
probably null |
|
R1717:Cpsf1
|
UTSW |
15 |
76,486,766 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1889:Cpsf1
|
UTSW |
15 |
76,486,356 (GRCm39) |
missense |
probably benign |
0.06 |
R1994:Cpsf1
|
UTSW |
15 |
76,487,360 (GRCm39) |
missense |
probably benign |
0.03 |
R2168:Cpsf1
|
UTSW |
15 |
76,487,937 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2359:Cpsf1
|
UTSW |
15 |
76,481,873 (GRCm39) |
missense |
probably benign |
0.02 |
R2697:Cpsf1
|
UTSW |
15 |
76,483,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R2847:Cpsf1
|
UTSW |
15 |
76,487,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R2848:Cpsf1
|
UTSW |
15 |
76,487,051 (GRCm39) |
missense |
probably damaging |
1.00 |
R3409:Cpsf1
|
UTSW |
15 |
76,485,981 (GRCm39) |
nonsense |
probably null |
|
R3410:Cpsf1
|
UTSW |
15 |
76,485,981 (GRCm39) |
nonsense |
probably null |
|
R3815:Cpsf1
|
UTSW |
15 |
76,485,349 (GRCm39) |
missense |
probably benign |
0.22 |
R4030:Cpsf1
|
UTSW |
15 |
76,485,979 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4491:Cpsf1
|
UTSW |
15 |
76,481,922 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4615:Cpsf1
|
UTSW |
15 |
76,481,137 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5227:Cpsf1
|
UTSW |
15 |
76,483,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R5353:Cpsf1
|
UTSW |
15 |
76,486,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R5548:Cpsf1
|
UTSW |
15 |
76,481,527 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5552:Cpsf1
|
UTSW |
15 |
76,483,846 (GRCm39) |
missense |
probably benign |
0.27 |
R5746:Cpsf1
|
UTSW |
15 |
76,484,037 (GRCm39) |
missense |
probably benign |
0.01 |
R6319:Cpsf1
|
UTSW |
15 |
76,481,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R6360:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
R6572:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
R6574:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
R6576:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
R6577:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
R6588:Cpsf1
|
UTSW |
15 |
76,481,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R6595:Cpsf1
|
UTSW |
15 |
76,486,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R6621:Cpsf1
|
UTSW |
15 |
76,487,719 (GRCm39) |
missense |
probably damaging |
1.00 |
R6880:Cpsf1
|
UTSW |
15 |
76,486,739 (GRCm39) |
missense |
probably benign |
0.06 |
R6954:Cpsf1
|
UTSW |
15 |
76,483,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R7100:Cpsf1
|
UTSW |
15 |
76,480,314 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7255:Cpsf1
|
UTSW |
15 |
76,481,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R7318:Cpsf1
|
UTSW |
15 |
76,481,475 (GRCm39) |
nonsense |
probably null |
|
R7371:Cpsf1
|
UTSW |
15 |
76,484,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R7387:Cpsf1
|
UTSW |
15 |
76,486,766 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7446:Cpsf1
|
UTSW |
15 |
76,485,950 (GRCm39) |
missense |
probably benign |
|
R7739:Cpsf1
|
UTSW |
15 |
76,484,511 (GRCm39) |
missense |
probably benign |
0.00 |
R7878:Cpsf1
|
UTSW |
15 |
76,484,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R8334:Cpsf1
|
UTSW |
15 |
76,487,787 (GRCm39) |
missense |
probably benign |
0.26 |
R8345:Cpsf1
|
UTSW |
15 |
76,485,690 (GRCm39) |
missense |
probably benign |
|
R8382:Cpsf1
|
UTSW |
15 |
76,485,151 (GRCm39) |
missense |
probably benign |
|
R8403:Cpsf1
|
UTSW |
15 |
76,484,483 (GRCm39) |
missense |
probably damaging |
0.96 |
R8968:Cpsf1
|
UTSW |
15 |
76,486,169 (GRCm39) |
nonsense |
probably null |
|
R8972:Cpsf1
|
UTSW |
15 |
76,481,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R9257:Cpsf1
|
UTSW |
15 |
76,484,992 (GRCm39) |
missense |
probably benign |
|
R9627:Cpsf1
|
UTSW |
15 |
76,484,088 (GRCm39) |
missense |
probably damaging |
0.97 |
R9776:Cpsf1
|
UTSW |
15 |
76,486,779 (GRCm39) |
missense |
probably damaging |
1.00 |
X0052:Cpsf1
|
UTSW |
15 |
76,480,502 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCCACCATGAAGTCCACG -3'
(R):5'- GGTCCTGTATGAGAAGGAGC -3'
Sequencing Primer
(F):5'- TGAAGTCCACGCTGTATACC -3'
(R):5'- TTGGCCAAAAAGTGTGTGACCTC -3'
|
Posted On |
2019-10-24 |