Incidental Mutation 'IGL02291:Cpsf1'
| ID |
290332 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpsf1
|
| Ensembl Gene |
ENSMUSG00000034022 |
| Gene Name |
cleavage and polyadenylation specific factor 1 |
| Synonyms |
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
IGL02291
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76595803-76607591 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76602821 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 219
(I219N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
| AlphaFold |
Q9EPU4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071898
AA Change: I219N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: I219N
| 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: ENSMUST00000229015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229797
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230157
AA Change: I219N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231191
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AF366264 |
T |
A |
8: 13,837,704 |
N129I |
probably benign |
Het |
| Arhgap10 |
T |
A |
8: 77,382,715 |
|
probably benign |
Het |
| Cfap161 |
C |
T |
7: 83,791,639 |
G135D |
probably benign |
Het |
| Cpne1 |
A |
G |
2: 156,078,420 |
V179A |
probably damaging |
Het |
| Creb3l4 |
T |
G |
3: 90,241,983 |
R139S |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 156,019,538 |
K1929E |
probably damaging |
Het |
| Gm5431 |
A |
G |
11: 48,888,964 |
L655P |
probably damaging |
Het |
| Igsf3 |
T |
G |
3: 101,439,529 |
H613Q |
probably damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,357,082 |
Y251H |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,865,492 |
|
probably benign |
Het |
| Krt17 |
A |
T |
11: 100,256,493 |
V404E |
probably benign |
Het |
| Lipo2 |
A |
G |
19: 33,745,792 |
I199T |
possibly damaging |
Het |
| Mks1 |
T |
A |
11: 87,859,667 |
|
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,122,589 |
|
probably null |
Het |
| Nup210 |
T |
C |
6: 91,101,268 |
D100G |
probably damaging |
Het |
| Olfr108 |
G |
A |
17: 37,446,285 |
V255I |
possibly damaging |
Het |
| Olfr1393 |
T |
A |
11: 49,280,985 |
I279N |
probably damaging |
Het |
| Olfr532 |
A |
T |
7: 140,419,287 |
L162Q |
probably damaging |
Het |
| Olfr871 |
T |
C |
9: 20,212,802 |
I151T |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,857,799 |
V282A |
probably benign |
Het |
| Rasal3 |
A |
T |
17: 32,393,737 |
|
probably benign |
Het |
| Rnf10 |
T |
C |
5: 115,260,196 |
N93D |
probably damaging |
Het |
| Slc7a9 |
G |
A |
7: 35,457,014 |
G294R |
probably damaging |
Het |
| Taf7 |
C |
T |
18: 37,643,362 |
G51R |
possibly damaging |
Het |
| Tas2r126 |
G |
A |
6: 42,435,287 |
M251I |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,326,865 |
F473S |
probably damaging |
Het |
| Vmn1r127 |
A |
G |
7: 21,319,074 |
L263P |
possibly damaging |
Het |
| Vmn1r234 |
G |
A |
17: 21,228,931 |
V36I |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,390,748 |
H407L |
probably damaging |
Het |
|
| Other mutations in Cpsf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Cpsf1
|
APN |
15 |
76600216 |
missense |
probably benign |
0.27 |
|
IGL01013:Cpsf1
|
APN |
15 |
76599297 |
nonsense |
probably null |
|
|
IGL01599:Cpsf1
|
APN |
15 |
76596541 |
missense |
probably damaging |
1.00 |
|
IGL02008:Cpsf1
|
APN |
15 |
76603091 |
missense |
probably damaging |
1.00 |
|
IGL02901:Cpsf1
|
APN |
15 |
76599496 |
nonsense |
probably null |
|
|
IGL02929:Cpsf1
|
APN |
15 |
76602127 |
critical splice donor site |
probably null |
|
|
IGL03402:Cpsf1
|
APN |
15 |
76596003 |
splice site |
probably null |
|
|
R0005:Cpsf1
|
UTSW |
15 |
76600680 |
critical splice donor site |
probably null |
|
|
R0044:Cpsf1
|
UTSW |
15 |
76599553 |
missense |
probably benign |
|
|
R0044:Cpsf1
|
UTSW |
15 |
76599553 |
missense |
probably benign |
|
|
R0487:Cpsf1
|
UTSW |
15 |
76597002 |
missense |
probably damaging |
1.00 |
|
R0510:Cpsf1
|
UTSW |
15 |
76603657 |
intron |
probably benign |
|
|
R0630:Cpsf1
|
UTSW |
15 |
76601971 |
missense |
probably damaging |
1.00 |
|
R0780:Cpsf1
|
UTSW |
15 |
76600377 |
missense |
probably benign |
0.17 |
|
R1617:Cpsf1
|
UTSW |
15 |
76602370 |
nonsense |
probably null |
|
|
R1717:Cpsf1
|
UTSW |
15 |
76602566 |
missense |
possibly damaging |
0.77 |
|
R1889:Cpsf1
|
UTSW |
15 |
76602156 |
missense |
probably benign |
0.06 |
|
R1994:Cpsf1
|
UTSW |
15 |
76603160 |
missense |
probably benign |
0.03 |
|
R2168:Cpsf1
|
UTSW |
15 |
76603737 |
missense |
possibly damaging |
0.69 |
|
R2359:Cpsf1
|
UTSW |
15 |
76597673 |
missense |
probably benign |
0.02 |
|
R2697:Cpsf1
|
UTSW |
15 |
76599329 |
missense |
probably damaging |
1.00 |
|
R2847:Cpsf1
|
UTSW |
15 |
76602851 |
missense |
probably damaging |
1.00 |
|
R2848:Cpsf1
|
UTSW |
15 |
76602851 |
missense |
probably damaging |
1.00 |
|
R3409:Cpsf1
|
UTSW |
15 |
76601781 |
nonsense |
probably null |
|
|
R3410:Cpsf1
|
UTSW |
15 |
76601781 |
nonsense |
probably null |
|
|
R3815:Cpsf1
|
UTSW |
15 |
76601149 |
missense |
probably benign |
0.22 |
|
R4030:Cpsf1
|
UTSW |
15 |
76601779 |
missense |
possibly damaging |
0.96 |
|
R4491:Cpsf1
|
UTSW |
15 |
76597722 |
missense |
possibly damaging |
0.85 |
|
R4615:Cpsf1
|
UTSW |
15 |
76596937 |
missense |
possibly damaging |
0.88 |
|
R5227:Cpsf1
|
UTSW |
15 |
76598948 |
missense |
probably damaging |
1.00 |
|
R5353:Cpsf1
|
UTSW |
15 |
76602571 |
missense |
probably damaging |
1.00 |
|
R5548:Cpsf1
|
UTSW |
15 |
76597327 |
missense |
possibly damaging |
0.95 |
|
R5552:Cpsf1
|
UTSW |
15 |
76599646 |
missense |
probably benign |
0.27 |
|
R5746:Cpsf1
|
UTSW |
15 |
76599837 |
missense |
probably benign |
0.01 |
|
R6319:Cpsf1
|
UTSW |
15 |
76596967 |
missense |
probably damaging |
1.00 |
|
R6360:Cpsf1
|
UTSW |
15 |
76597455 |
frame shift |
probably null |
|
|
R6572:Cpsf1
|
UTSW |
15 |
76597455 |
frame shift |
probably null |
|
|
R6574:Cpsf1
|
UTSW |
15 |
76597455 |
frame shift |
probably null |
|
|
R6576:Cpsf1
|
UTSW |
15 |
76597455 |
frame shift |
probably null |
|
|
R6577:Cpsf1
|
UTSW |
15 |
76597455 |
frame shift |
probably null |
|
|
R6588:Cpsf1
|
UTSW |
15 |
76596822 |
missense |
probably damaging |
1.00 |
|
R6595:Cpsf1
|
UTSW |
15 |
76602510 |
missense |
probably damaging |
1.00 |
|
R6621:Cpsf1
|
UTSW |
15 |
76603519 |
missense |
probably damaging |
1.00 |
|
R6880:Cpsf1
|
UTSW |
15 |
76602539 |
missense |
probably benign |
0.06 |
|
R6954:Cpsf1
|
UTSW |
15 |
76599496 |
missense |
probably damaging |
1.00 |
|
R7100:Cpsf1
|
UTSW |
15 |
76596114 |
missense |
possibly damaging |
0.73 |
|
R7255:Cpsf1
|
UTSW |
15 |
76597543 |
missense |
probably damaging |
1.00 |
|
R7318:Cpsf1
|
UTSW |
15 |
76597275 |
nonsense |
probably null |
|
|
R7371:Cpsf1
|
UTSW |
15 |
76600575 |
missense |
probably damaging |
1.00 |
|
R7387:Cpsf1
|
UTSW |
15 |
76602566 |
missense |
possibly damaging |
0.77 |
|
R7446:Cpsf1
|
UTSW |
15 |
76601750 |
missense |
probably benign |
|
|
R7612:Cpsf1
|
UTSW |
15 |
76597009 |
missense |
probably benign |
0.00 |
|
R7739:Cpsf1
|
UTSW |
15 |
76600311 |
missense |
probably benign |
0.00 |
|
R7878:Cpsf1
|
UTSW |
15 |
76600500 |
missense |
probably damaging |
1.00 |
|
R8334:Cpsf1
|
UTSW |
15 |
76603587 |
missense |
probably benign |
0.26 |
|
R8345:Cpsf1
|
UTSW |
15 |
76601490 |
missense |
probably benign |
|
|
R8382:Cpsf1
|
UTSW |
15 |
76600951 |
missense |
probably benign |
|
|
R8403:Cpsf1
|
UTSW |
15 |
76600283 |
missense |
probably damaging |
0.96 |
|
R8968:Cpsf1
|
UTSW |
15 |
76601969 |
nonsense |
probably null |
|
|
R8972:Cpsf1
|
UTSW |
15 |
76597328 |
missense |
probably damaging |
1.00 |
|
R9257:Cpsf1
|
UTSW |
15 |
76600792 |
missense |
probably benign |
|
|
R9627:Cpsf1
|
UTSW |
15 |
76599888 |
missense |
probably damaging |
0.97 |
|
R9776:Cpsf1
|
UTSW |
15 |
76602579 |
missense |
probably damaging |
1.00 |
|
X0052:Cpsf1
|
UTSW |
15 |
76596302 |
missense |
probably benign |
0.04 |
|
| Posted On |
2015-04-16 |
Incidental Mutation