Incidental Mutation 'R6577:Cpsf1'
| ID |
523564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf1
|
| Ensembl Gene |
ENSMUSG00000034022 |
| Gene Name |
cleavage and polyadenylation specific factor 1 |
| Synonyms |
|
| MMRRC Submission |
044701-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R6577 (G1)
|
| Quality Score |
166.468 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CCCCTGCATGAGGCAGGTCCC to CCCC
at 76481655 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000160784]
[ENSMUST00000162503]
[ENSMUST00000161732]
[ENSMUST00000161612]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
| AlphaFold |
Q9EPU4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071898
|
| SMART Domains |
Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
| 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 |
noncoding transcript
Transcript: ENSMUST00000159005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160410
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000161311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229269
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229797
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000229015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229437
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000229367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229504
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000162139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231191
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230157
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (38/39) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Api5 |
T |
C |
2: 94,252,726 (GRCm39) |
Y348C |
probably benign |
Het |
| Ark2n |
T |
C |
18: 77,740,855 (GRCm39) |
T285A |
probably benign |
Het |
| Arl14 |
A |
G |
3: 69,130,405 (GRCm39) |
E184G |
probably benign |
Het |
| Asap3 |
T |
C |
4: 135,965,541 (GRCm39) |
|
probably null |
Het |
| Atp11b |
T |
A |
3: 35,893,311 (GRCm39) |
V36E |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,298,659 (GRCm39) |
S100N |
probably benign |
Het |
| Cd27 |
T |
C |
6: 125,213,756 (GRCm39) |
T34A |
probably benign |
Het |
| Clec10a |
T |
C |
11: 70,061,436 (GRCm39) |
S274P |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,147,206 (GRCm39) |
T484I |
probably benign |
Het |
| Cracd |
A |
T |
5: 77,013,947 (GRCm39) |
|
probably benign |
Het |
| Def8 |
T |
C |
8: 124,183,449 (GRCm39) |
S304P |
probably benign |
Het |
| Dgkd |
G |
A |
1: 87,867,962 (GRCm39) |
V299M |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,384,861 (GRCm39) |
D850G |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 102,691,130 (GRCm39) |
N291S |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,922,138 (GRCm39) |
I563V |
probably benign |
Het |
| Hells |
C |
T |
19: 38,919,909 (GRCm39) |
Q20* |
probably null |
Het |
| Hid1 |
G |
C |
11: 115,245,462 (GRCm39) |
P448A |
possibly damaging |
Het |
| Igkv8-24 |
C |
T |
6: 70,193,947 (GRCm39) |
R87H |
possibly damaging |
Het |
| Irf6 |
A |
G |
1: 192,851,662 (GRCm39) |
S418G |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,301,420 (GRCm39) |
C424S |
possibly damaging |
Het |
| Lmln |
T |
A |
16: 32,927,370 (GRCm39) |
|
probably null |
Het |
| Myo1a |
A |
T |
10: 127,551,189 (GRCm39) |
I678F |
possibly damaging |
Het |
| Nup98 |
A |
C |
7: 101,778,053 (GRCm39) |
|
probably null |
Het |
| Papolg |
GGACTTGGGATACTTACGCTTTG |
GG |
11: 23,829,857 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,901,153 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
C |
2: 27,108,867 (GRCm39) |
T623A |
possibly damaging |
Het |
| Scml4 |
A |
G |
10: 42,823,107 (GRCm39) |
N251D |
probably damaging |
Het |
| Skap1 |
T |
C |
11: 96,416,870 (GRCm39) |
Y52H |
probably damaging |
Het |
| Srp68 |
G |
A |
11: 116,156,290 (GRCm39) |
R113W |
probably damaging |
Het |
| Srsf12 |
T |
C |
4: 33,209,196 (GRCm39) |
|
probably benign |
Het |
| Stat5b |
A |
G |
11: 100,688,526 (GRCm39) |
M312T |
probably benign |
Het |
| Tma7 |
T |
C |
9: 108,911,262 (GRCm39) |
|
probably benign |
Het |
| Tmem120b |
T |
G |
5: 123,254,710 (GRCm39) |
F304V |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,499,057 (GRCm39) |
L9F |
probably damaging |
Het |
| Tns3 |
G |
T |
11: 8,499,058 (GRCm39) |
D8E |
probably damaging |
Het |
| Tsc2 |
C |
T |
17: 24,829,473 (GRCm39) |
A765T |
probably damaging |
Het |
| Tut7 |
C |
T |
13: 59,955,975 (GRCm39) |
C45Y |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 825,465 (GRCm39) |
I276V |
probably benign |
Homo |
| Upb1 |
T |
G |
10: 75,248,723 (GRCm39) |
L81R |
probably damaging |
Het |
| Uros |
C |
A |
7: 133,302,569 (GRCm39) |
C73F |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,384 (GRCm39) |
I315V |
probably benign |
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 |
|
|
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 |
|
|
R7612:Cpsf1
|
UTSW |
15 |
76,481,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CCTTCTCATACAGGACCTTGAATTTG -3'
(R):5'- ATTCCCAATGCCAGGTAAGGG -3'
Sequencing Primer
(F):5'- ACAGGACCTTGAATTTGTTCTTG -3'
(R):5'- CCAATGCCAGGTAAGGGTGAATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation