Incidental Mutation 'R6574:Cpsf1'
ID |
523367 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
044698-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R6574 (G1)
|
Quality Score |
200.468 |
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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503B20Rik |
A |
C |
3: 146,356,613 (GRCm39) |
D98E |
probably benign |
Het |
Ackr3 |
T |
C |
1: 90,141,790 (GRCm39) |
I83T |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,994,411 (GRCm39) |
M5232L |
probably benign |
Het |
Ano1 |
A |
C |
7: 144,161,653 (GRCm39) |
|
probably null |
Het |
Arap1 |
T |
A |
7: 101,053,208 (GRCm39) |
I532N |
probably damaging |
Het |
Bsn |
A |
G |
9: 107,991,153 (GRCm39) |
V1533A |
possibly damaging |
Het |
Ccdc83 |
T |
C |
7: 89,875,885 (GRCm39) |
S329G |
possibly damaging |
Het |
Ccno |
T |
A |
13: 113,124,719 (GRCm39) |
D96E |
probably benign |
Het |
Degs1 |
T |
C |
1: 182,106,638 (GRCm39) |
Y207C |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,495,693 (GRCm39) |
|
probably null |
Het |
Dnah9 |
C |
T |
11: 66,059,107 (GRCm39) |
A63T |
probably benign |
Het |
Eif4e1b |
T |
C |
13: 54,932,711 (GRCm39) |
F100S |
probably damaging |
Het |
Eps8 |
A |
T |
6: 137,460,596 (GRCm39) |
Y722* |
probably null |
Het |
Etfa |
A |
T |
9: 55,402,910 (GRCm39) |
I96N |
probably damaging |
Het |
Flt4 |
A |
G |
11: 49,516,199 (GRCm39) |
T101A |
probably benign |
Het |
Gabra4 |
A |
G |
5: 71,781,268 (GRCm39) |
I381T |
probably benign |
Het |
Gria2 |
A |
G |
3: 80,596,603 (GRCm39) |
V821A |
probably damaging |
Het |
Gss |
G |
T |
2: 155,423,931 (GRCm39) |
T51K |
probably damaging |
Het |
Igkv13-84 |
C |
A |
6: 68,916,977 (GRCm39) |
Y91* |
probably null |
Het |
Iqcb1 |
A |
T |
16: 36,691,863 (GRCm39) |
Q487H |
probably damaging |
Het |
Itga8 |
G |
A |
2: 12,234,972 (GRCm39) |
H429Y |
probably benign |
Het |
Myo1c |
T |
G |
11: 75,547,124 (GRCm39) |
|
probably benign |
Het |
Odad2 |
C |
A |
18: 7,129,394 (GRCm39) |
|
probably null |
Het |
Pcdhga5 |
T |
C |
18: 37,828,434 (GRCm39) |
L294P |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,558,134 (GRCm39) |
L271P |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,549,654 (GRCm39) |
D290G |
probably damaging |
Het |
Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
Ppp1r15a |
T |
C |
7: 45,173,533 (GRCm39) |
D425G |
probably benign |
Het |
Ppp2r3d |
G |
A |
9: 101,071,584 (GRCm39) |
P678L |
probably benign |
Het |
Ptbp2 |
T |
G |
3: 119,541,596 (GRCm39) |
Q147P |
probably damaging |
Het |
Sez6l |
A |
G |
5: 112,724,692 (GRCm39) |
S15P |
possibly damaging |
Het |
Slc25a10 |
T |
C |
11: 120,387,903 (GRCm39) |
F199L |
probably benign |
Het |
Slc4a8 |
A |
G |
15: 100,705,197 (GRCm39) |
N801S |
probably damaging |
Het |
Sucnr1 |
T |
C |
3: 59,994,020 (GRCm39) |
Y183H |
probably damaging |
Het |
Tmem67 |
T |
C |
4: 12,063,086 (GRCm39) |
D520G |
possibly damaging |
Het |
Trgc3 |
G |
T |
13: 19,445,293 (GRCm39) |
R80S |
probably benign |
Het |
Trrap |
G |
T |
5: 144,752,360 (GRCm39) |
|
probably null |
Het |
Tubgcp5 |
C |
T |
7: 55,473,331 (GRCm39) |
P803L |
probably benign |
Het |
Ubash3a |
A |
T |
17: 31,451,370 (GRCm39) |
Q423L |
probably damaging |
Het |
Ucp1 |
G |
A |
8: 84,020,718 (GRCm39) |
|
probably null |
Het |
Vmn2r94 |
G |
T |
17: 18,476,421 (GRCm39) |
N425K |
probably damaging |
Het |
Vps52 |
A |
G |
17: 34,181,452 (GRCm39) |
M418V |
probably null |
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 |
|
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 |