Incidental Mutation 'R6572:Cpsf1'
ID |
526299 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
044696-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R6572 (G1)
|
Quality Score |
217.468 |
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: ENSMUST00000229269
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229287
|
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: ENSMUST00000161311
|
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 |
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: ENSMUST00000229797
|
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 |
noncoding transcript
Transcript: ENSMUST00000229437
|
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: ENSMUST00000229504
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
97% (62/64) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
C |
T |
15: 37,425,961 (GRCm39) |
Q34* |
probably null |
Het |
Adamts3 |
T |
A |
5: 90,009,468 (GRCm39) |
H65L |
possibly damaging |
Het |
Ago2 |
A |
G |
15: 72,998,826 (GRCm39) |
V257A |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,985,340 (GRCm39) |
K2208R |
probably damaging |
Het |
Apc2 |
C |
T |
10: 80,147,613 (GRCm39) |
S860L |
probably damaging |
Het |
Arhgap18 |
A |
G |
10: 26,722,412 (GRCm39) |
|
probably null |
Het |
Arhgap33 |
T |
C |
7: 30,226,635 (GRCm39) |
E524G |
probably damaging |
Het |
Ascc3 |
C |
T |
10: 50,566,343 (GRCm39) |
Q763* |
probably null |
Het |
Atg2a |
T |
C |
19: 6,304,695 (GRCm39) |
L1184P |
probably damaging |
Het |
Baiap2l1 |
A |
G |
5: 144,223,112 (GRCm39) |
L75P |
probably damaging |
Het |
Btbd17 |
A |
T |
11: 114,683,046 (GRCm39) |
L222Q |
probably damaging |
Het |
Chst13 |
G |
T |
6: 90,286,588 (GRCm39) |
R125S |
probably benign |
Het |
Cracr2a |
T |
C |
6: 127,585,715 (GRCm39) |
|
probably null |
Het |
Dchs1 |
T |
A |
7: 105,408,013 (GRCm39) |
T1940S |
possibly damaging |
Het |
Ddit4l |
G |
T |
3: 137,332,111 (GRCm39) |
R159L |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,866,674 (GRCm39) |
Y679H |
probably damaging |
Het |
Dyrk4 |
T |
G |
6: 126,874,201 (GRCm39) |
I130L |
probably benign |
Het |
Eml2 |
T |
C |
7: 18,930,539 (GRCm39) |
V373A |
possibly damaging |
Het |
Entrep1 |
A |
T |
19: 23,962,082 (GRCm39) |
M307K |
possibly damaging |
Het |
Ephb1 |
A |
G |
9: 101,944,097 (GRCm39) |
F312L |
probably benign |
Het |
Fndc9 |
A |
T |
11: 46,128,708 (GRCm39) |
I76F |
probably damaging |
Het |
Frk |
G |
A |
10: 34,459,963 (GRCm39) |
R186K |
probably benign |
Het |
Gpatch3 |
G |
T |
4: 133,302,191 (GRCm39) |
G41C |
probably damaging |
Het |
Greb1l |
T |
A |
18: 10,522,131 (GRCm39) |
H633Q |
probably benign |
Het |
Gstt4 |
T |
A |
10: 75,650,954 (GRCm39) |
T223S |
probably damaging |
Het |
Hpd |
C |
T |
5: 123,318,739 (GRCm39) |
E60K |
probably benign |
Het |
Inpp5d |
C |
T |
1: 87,623,118 (GRCm39) |
P403S |
probably damaging |
Het |
Klk1b9 |
T |
A |
7: 43,629,159 (GRCm39) |
I189K |
probably benign |
Het |
Kmt2e |
A |
T |
5: 23,702,579 (GRCm39) |
H239L |
possibly damaging |
Het |
Lrriq3 |
A |
G |
3: 154,887,312 (GRCm39) |
D344G |
probably benign |
Het |
Neb |
A |
G |
2: 52,168,859 (GRCm39) |
I1892T |
probably damaging |
Het |
Neto2 |
A |
T |
8: 86,397,033 (GRCm39) |
I73N |
possibly damaging |
Het |
Nipal3 |
A |
T |
4: 135,174,564 (GRCm39) |
S396T |
probably benign |
Het |
Or1e35 |
A |
G |
11: 73,797,629 (GRCm39) |
S230P |
possibly damaging |
Het |
Or51q1c |
T |
A |
7: 103,648,391 (GRCm39) |
|
probably null |
Het |
Phf20l1 |
T |
A |
15: 66,481,396 (GRCm39) |
V264D |
probably damaging |
Het |
Pigs |
A |
G |
11: 78,230,190 (GRCm39) |
Y319C |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,571,824 (GRCm39) |
Y608H |
probably damaging |
Het |
Ppard |
G |
T |
17: 28,516,093 (GRCm39) |
E106* |
probably null |
Het |
Pramel11 |
C |
T |
4: 143,621,943 (GRCm39) |
V471I |
possibly damaging |
Het |
Pramel16 |
A |
G |
4: 143,676,262 (GRCm39) |
S281P |
probably benign |
Het |
Psenen |
T |
C |
7: 30,261,773 (GRCm39) |
T48A |
probably benign |
Het |
Ralgps2 |
A |
T |
1: 156,651,620 (GRCm39) |
|
probably null |
Het |
Ripk4 |
T |
A |
16: 97,547,105 (GRCm39) |
R323* |
probably null |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Scgb2b24 |
T |
A |
7: 33,437,902 (GRCm39) |
E68D |
probably damaging |
Het |
Setx |
A |
G |
2: 29,063,706 (GRCm39) |
D2334G |
possibly damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,072,643 (GRCm39) |
D497G |
possibly damaging |
Het |
Smarca2 |
A |
T |
19: 26,656,573 (GRCm39) |
I850F |
possibly damaging |
Het |
Smyd1 |
A |
G |
6: 71,202,396 (GRCm39) |
Y270H |
probably damaging |
Het |
Spidr |
T |
A |
16: 15,730,380 (GRCm39) |
|
probably null |
Het |
Srms |
T |
C |
2: 180,854,450 (GRCm39) |
D39G |
probably benign |
Het |
Trpc2 |
T |
A |
7: 101,739,213 (GRCm39) |
I528N |
probably damaging |
Het |
Tshr |
A |
G |
12: 91,505,134 (GRCm39) |
I691V |
probably benign |
Het |
Urb1 |
A |
C |
16: 90,584,302 (GRCm39) |
V560G |
probably benign |
Het |
Usp37 |
A |
G |
1: 74,534,941 (GRCm39) |
S2P |
possibly damaging |
Het |
Vmn1r60 |
G |
A |
7: 5,547,599 (GRCm39) |
S167F |
probably benign |
Het |
Vmn2r89 |
G |
A |
14: 51,693,450 (GRCm39) |
V267I |
probably damaging |
Het |
Washc3 |
T |
A |
10: 88,049,568 (GRCm39) |
D63E |
probably benign |
Het |
Wdr89 |
A |
G |
12: 75,680,159 (GRCm39) |
S32P |
probably damaging |
Het |
Zfp157 |
T |
C |
5: 138,455,313 (GRCm39) |
S504P |
possibly damaging |
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 |
|
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 |
|
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'- GCTCCTTCTCATACAGGACC -3'
(R):5'- CAATGCCAGGTAAGGGTGAATC -3'
Sequencing Primer
(F):5'- CTCATACAGGACCTTGAATTTGTTC -3'
(R):5'- CCAGGTAAGGGTGAATCTAGCAG -3'
|
Posted On |
2018-06-22 |