Incidental Mutation 'IGL01013:Cpsf1'
| ID |
53994 |
| 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 |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
IGL01013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76595803-76607591 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 76599297 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 883
(Q883*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000160784]
[ENSMUST00000161612]
[ENSMUST00000161732]
[ENSMUST00000230157]
[ENSMUST00000231042]
[ENSMUST00000162503]
|
| AlphaFold |
Q9EPU4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000071898
AA Change: Q883*
|
| SMART Domains |
Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: Q883*
| 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: 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000161783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229447
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230157
AA Change: Q883*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231191
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230822
|
| 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: ENSMUST00000230557
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 76,886,206 (GRCm38) |
E499D |
possibly damaging |
Het |
| Abca1 |
A |
T |
4: 53,038,185 (GRCm38) |
L2059* |
probably null |
Het |
| Ankar |
T |
A |
1: 72,650,989 (GRCm38) |
I1228F |
possibly damaging |
Het |
| Appl1 |
A |
T |
14: 26,949,476 (GRCm38) |
Y340N |
possibly damaging |
Het |
| Atp8b4 |
C |
A |
2: 126,323,087 (GRCm38) |
R1103L |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,689,013 (GRCm38) |
V308A |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,581,339 (GRCm38) |
P1534L |
probably benign |
Het |
| Ccdc78 |
A |
G |
17: 25,789,054 (GRCm38) |
E313G |
possibly damaging |
Het |
| Cep57l1 |
G |
A |
10: 41,740,869 (GRCm38) |
R141* |
probably null |
Het |
| Crot |
A |
G |
5: 8,993,575 (GRCm38) |
Y16H |
probably benign |
Het |
| Cyld |
T |
G |
8: 88,742,362 (GRCm38) |
L587R |
probably damaging |
Het |
| Fam114a1 |
G |
A |
5: 65,031,395 (GRCm38) |
|
probably null |
Het |
| Fam89b |
G |
T |
19: 5,729,369 (GRCm38) |
D53E |
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,267,786 (GRCm38) |
M226V |
probably benign |
Het |
| Gm10722 |
A |
T |
9: 3,002,230 (GRCm38) |
Y184F |
probably damaging |
Het |
| Hp |
C |
A |
8: 109,579,021 (GRCm38) |
|
probably benign |
Het |
| Igsf9b |
G |
T |
9: 27,334,304 (GRCm38) |
R1189L |
probably damaging |
Het |
| Ilf3 |
A |
G |
9: 21,399,691 (GRCm38) |
N620D |
possibly damaging |
Het |
| Jakmip3 |
A |
C |
7: 139,017,573 (GRCm38) |
E228A |
possibly damaging |
Het |
| Kpna3 |
A |
T |
14: 61,370,517 (GRCm38) |
I413K |
probably damaging |
Het |
| Letm1 |
A |
T |
5: 33,762,590 (GRCm38) |
C202S |
possibly damaging |
Het |
| Lmod2 |
C |
A |
6: 24,604,135 (GRCm38) |
Q370K |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,827,526 (GRCm38) |
|
probably benign |
Het |
| Mcidas |
T |
A |
13: 112,997,585 (GRCm38) |
|
probably benign |
Het |
| Mme |
A |
G |
3: 63,327,860 (GRCm38) |
|
probably null |
Het |
| Mrc1 |
T |
C |
2: 14,328,425 (GRCm38) |
W1306R |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 4,030,716 (GRCm38) |
Q473K |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,648,066 (GRCm38) |
C719* |
probably null |
Het |
| Nsun7 |
T |
C |
5: 66,283,601 (GRCm38) |
I355T |
possibly damaging |
Het |
| Padi6 |
A |
G |
4: 140,729,003 (GRCm38) |
L560P |
probably damaging |
Het |
| Parl |
C |
A |
16: 20,282,790 (GRCm38) |
A285S |
possibly damaging |
Het |
| Pclo |
A |
T |
5: 14,793,834 (GRCm38) |
M4795L |
unknown |
Het |
| Polr2f |
A |
G |
15: 79,146,129 (GRCm38) |
Y56C |
probably damaging |
Het |
| Rasgrp2 |
A |
T |
19: 6,404,383 (GRCm38) |
H152L |
probably damaging |
Het |
| Rpl10l |
T |
C |
12: 66,284,227 (GRCm38) |
D44G |
probably benign |
Het |
| Slc25a16 |
A |
G |
10: 62,944,433 (GRCm38) |
|
probably null |
Het |
| Snrnp200 |
G |
A |
2: 127,232,472 (GRCm38) |
E1411K |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,625,065 (GRCm38) |
R3Q |
probably damaging |
Het |
| Tbc1d32 |
G |
T |
10: 56,201,959 (GRCm38) |
|
probably null |
Het |
| Tcf7l2 |
T |
C |
19: 55,919,627 (GRCm38) |
|
probably benign |
Het |
| Tnrc6c |
G |
T |
11: 117,722,029 (GRCm38) |
V498L |
probably benign |
Het |
| Tymp |
G |
A |
15: 89,376,310 (GRCm38) |
H102Y |
probably damaging |
Het |
| Wdr76 |
T |
C |
2: 121,535,497 (GRCm38) |
S492P |
probably benign |
Het |
| Zc3h12d |
T |
C |
10: 7,839,956 (GRCm38) |
I41T |
probably damaging |
Het |
|
| Other mutations in Cpsf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Cpsf1
|
APN |
15 |
76,600,216 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL01599:Cpsf1
|
APN |
15 |
76,596,541 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02008:Cpsf1
|
APN |
15 |
76,603,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02291:Cpsf1
|
APN |
15 |
76,602,821 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02901:Cpsf1
|
APN |
15 |
76,599,496 (GRCm38) |
nonsense |
probably null |
|
|
IGL02929:Cpsf1
|
APN |
15 |
76,602,127 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03402:Cpsf1
|
APN |
15 |
76,596,003 (GRCm38) |
splice site |
probably null |
|
|
R0005:Cpsf1
|
UTSW |
15 |
76,600,680 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0044:Cpsf1
|
UTSW |
15 |
76,599,553 (GRCm38) |
missense |
probably benign |
|
|
R0044:Cpsf1
|
UTSW |
15 |
76,599,553 (GRCm38) |
missense |
probably benign |
|
|
R0487:Cpsf1
|
UTSW |
15 |
76,597,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0510:Cpsf1
|
UTSW |
15 |
76,603,657 (GRCm38) |
intron |
probably benign |
|
|
R0630:Cpsf1
|
UTSW |
15 |
76,601,971 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0780:Cpsf1
|
UTSW |
15 |
76,600,377 (GRCm38) |
missense |
probably benign |
0.17 |
|
R1617:Cpsf1
|
UTSW |
15 |
76,602,370 (GRCm38) |
nonsense |
probably null |
|
|
R1717:Cpsf1
|
UTSW |
15 |
76,602,566 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R1889:Cpsf1
|
UTSW |
15 |
76,602,156 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1994:Cpsf1
|
UTSW |
15 |
76,603,160 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2168:Cpsf1
|
UTSW |
15 |
76,603,737 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R2359:Cpsf1
|
UTSW |
15 |
76,597,673 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2697:Cpsf1
|
UTSW |
15 |
76,599,329 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2847:Cpsf1
|
UTSW |
15 |
76,602,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2848:Cpsf1
|
UTSW |
15 |
76,602,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3409:Cpsf1
|
UTSW |
15 |
76,601,781 (GRCm38) |
nonsense |
probably null |
|
|
R3410:Cpsf1
|
UTSW |
15 |
76,601,781 (GRCm38) |
nonsense |
probably null |
|
|
R3815:Cpsf1
|
UTSW |
15 |
76,601,149 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4030:Cpsf1
|
UTSW |
15 |
76,601,779 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R4491:Cpsf1
|
UTSW |
15 |
76,597,722 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4615:Cpsf1
|
UTSW |
15 |
76,596,937 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5227:Cpsf1
|
UTSW |
15 |
76,598,948 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5353:Cpsf1
|
UTSW |
15 |
76,602,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5548:Cpsf1
|
UTSW |
15 |
76,597,327 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5552:Cpsf1
|
UTSW |
15 |
76,599,646 (GRCm38) |
missense |
probably benign |
0.27 |
|
R5746:Cpsf1
|
UTSW |
15 |
76,599,837 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6319:Cpsf1
|
UTSW |
15 |
76,596,967 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6360:Cpsf1
|
UTSW |
15 |
76,597,455 (GRCm38) |
frame shift |
probably null |
|
|
R6572:Cpsf1
|
UTSW |
15 |
76,597,455 (GRCm38) |
frame shift |
probably null |
|
|
R6574:Cpsf1
|
UTSW |
15 |
76,597,455 (GRCm38) |
frame shift |
probably null |
|
|
R6576:Cpsf1
|
UTSW |
15 |
76,597,455 (GRCm38) |
frame shift |
probably null |
|
|
R6577:Cpsf1
|
UTSW |
15 |
76,597,455 (GRCm38) |
frame shift |
probably null |
|
|
R6588:Cpsf1
|
UTSW |
15 |
76,596,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6595:Cpsf1
|
UTSW |
15 |
76,602,510 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6621:Cpsf1
|
UTSW |
15 |
76,603,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6880:Cpsf1
|
UTSW |
15 |
76,602,539 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6954:Cpsf1
|
UTSW |
15 |
76,599,496 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7100:Cpsf1
|
UTSW |
15 |
76,596,114 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7255:Cpsf1
|
UTSW |
15 |
76,597,543 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7318:Cpsf1
|
UTSW |
15 |
76,597,275 (GRCm38) |
nonsense |
probably null |
|
|
R7371:Cpsf1
|
UTSW |
15 |
76,600,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7387:Cpsf1
|
UTSW |
15 |
76,602,566 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7446:Cpsf1
|
UTSW |
15 |
76,601,750 (GRCm38) |
missense |
probably benign |
|
|
R7612:Cpsf1
|
UTSW |
15 |
76,597,009 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7739:Cpsf1
|
UTSW |
15 |
76,600,311 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7878:Cpsf1
|
UTSW |
15 |
76,600,500 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8334:Cpsf1
|
UTSW |
15 |
76,603,587 (GRCm38) |
missense |
probably benign |
0.26 |
|
R8345:Cpsf1
|
UTSW |
15 |
76,601,490 (GRCm38) |
missense |
probably benign |
|
|
R8382:Cpsf1
|
UTSW |
15 |
76,600,951 (GRCm38) |
missense |
probably benign |
|
|
R8403:Cpsf1
|
UTSW |
15 |
76,600,283 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8968:Cpsf1
|
UTSW |
15 |
76,601,969 (GRCm38) |
nonsense |
probably null |
|
|
R8972:Cpsf1
|
UTSW |
15 |
76,597,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9257:Cpsf1
|
UTSW |
15 |
76,600,792 (GRCm38) |
missense |
probably benign |
|
|
R9627:Cpsf1
|
UTSW |
15 |
76,599,888 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9776:Cpsf1
|
UTSW |
15 |
76,602,579 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0052:Cpsf1
|
UTSW |
15 |
76,596,302 (GRCm38) |
missense |
probably benign |
0.04 |
|
| Posted On |
2013-06-28 |
Incidental Mutation