Incidental Mutation 'R6880:Cpsf1'
ID |
536633 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
044976-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R6880 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76486739 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 266
(T266A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
AlphaFold |
Q9EPU4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071898
AA Change: T266A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: T266A
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 |
probably benign
Transcript: ENSMUST00000230157
AA Change: T266A
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
T |
A |
3: 36,123,854 (GRCm39) |
|
probably null |
Het |
Aff3 |
T |
C |
1: 38,574,243 (GRCm39) |
H206R |
probably damaging |
Het |
Aff3 |
T |
C |
1: 38,666,209 (GRCm39) |
D5G |
possibly damaging |
Het |
Alg5 |
A |
G |
3: 54,646,264 (GRCm39) |
E43G |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,578,748 (GRCm39) |
L4P |
probably damaging |
Het |
Ano1 |
T |
C |
7: 144,198,479 (GRCm39) |
Y345C |
probably benign |
Het |
Atf7ip |
A |
G |
6: 136,538,038 (GRCm39) |
I432V |
probably damaging |
Het |
B230307C23Rik |
T |
C |
16: 97,798,627 (GRCm39) |
|
probably benign |
Het |
Baz2b |
T |
A |
2: 59,743,283 (GRCm39) |
N1563Y |
probably damaging |
Het |
Bhlha15 |
A |
T |
5: 144,128,451 (GRCm39) |
T188S |
probably damaging |
Het |
Cbr3 |
T |
C |
16: 93,487,426 (GRCm39) |
V203A |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,566,831 (GRCm39) |
Y681H |
probably damaging |
Het |
Dock2 |
C |
T |
11: 34,579,279 (GRCm39) |
|
probably null |
Het |
Dsc1 |
T |
A |
18: 20,221,429 (GRCm39) |
D682V |
probably damaging |
Het |
Fkbp15 |
A |
T |
4: 62,254,732 (GRCm39) |
I256N |
possibly damaging |
Het |
Foxd1 |
A |
C |
13: 98,491,225 (GRCm39) |
D33A |
unknown |
Het |
Gid4 |
T |
A |
11: 60,327,261 (GRCm39) |
F149I |
probably damaging |
Het |
Hmcn2 |
G |
T |
2: 31,233,068 (GRCm39) |
V206L |
probably damaging |
Het |
Ighg2b |
T |
C |
12: 113,270,726 (GRCm39) |
I135V |
|
Het |
Ighv1-24 |
T |
C |
12: 114,736,663 (GRCm39) |
Y79C |
possibly damaging |
Het |
Impg1 |
T |
A |
9: 80,312,082 (GRCm39) |
D167V |
probably damaging |
Het |
Jakmip1 |
T |
C |
5: 37,262,967 (GRCm39) |
S372P |
possibly damaging |
Het |
Kcnb1 |
T |
C |
2: 166,947,727 (GRCm39) |
T374A |
probably damaging |
Het |
Lrrn4 |
A |
G |
2: 132,714,032 (GRCm39) |
S305P |
probably damaging |
Het |
Ltbp1 |
C |
T |
17: 75,628,044 (GRCm39) |
T1179I |
possibly damaging |
Het |
Mab21l2 |
A |
G |
3: 86,454,463 (GRCm39) |
I179T |
possibly damaging |
Het |
Myo5b |
A |
T |
18: 74,855,501 (GRCm39) |
H1230L |
probably benign |
Het |
Myocos |
T |
C |
1: 162,484,602 (GRCm39) |
|
probably null |
Het |
Nipa2 |
T |
C |
7: 55,582,999 (GRCm39) |
T249A |
probably damaging |
Het |
Oas1a |
C |
A |
5: 121,040,003 (GRCm39) |
R196L |
probably damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,019 (GRCm39) |
S217T |
probably damaging |
Het |
Or5an11 |
A |
G |
19: 12,245,974 (GRCm39) |
I127V |
probably benign |
Het |
Or8k41 |
A |
G |
2: 86,314,069 (GRCm39) |
F6L |
probably benign |
Het |
Phxr2 |
G |
A |
10: 98,961,946 (GRCm39) |
|
probably benign |
Het |
Pigq |
A |
G |
17: 26,153,802 (GRCm39) |
L85P |
probably damaging |
Het |
Pla2g4a |
T |
A |
1: 149,727,202 (GRCm39) |
D518V |
possibly damaging |
Het |
Pm20d1 |
A |
G |
1: 131,731,839 (GRCm39) |
K294E |
probably benign |
Het |
Polr3d |
C |
A |
14: 70,677,455 (GRCm39) |
R307L |
probably benign |
Het |
Pou5f2 |
T |
C |
13: 78,173,613 (GRCm39) |
L185P |
possibly damaging |
Het |
Prex2 |
A |
T |
1: 11,202,608 (GRCm39) |
N506Y |
probably damaging |
Het |
Proser1 |
T |
A |
3: 53,385,260 (GRCm39) |
S381T |
probably benign |
Het |
Prpf4b |
T |
C |
13: 35,078,436 (GRCm39) |
V682A |
possibly damaging |
Het |
Prr14l |
A |
T |
5: 32,988,211 (GRCm39) |
L428Q |
probably benign |
Het |
Prss23 |
A |
G |
7: 89,160,033 (GRCm39) |
V12A |
probably benign |
Het |
Qki |
T |
C |
17: 10,434,376 (GRCm39) |
D321G |
probably benign |
Het |
Rab11fip5 |
A |
G |
6: 85,325,827 (GRCm39) |
L193P |
probably damaging |
Het |
Retreg1 |
T |
G |
15: 25,971,825 (GRCm39) |
L245R |
probably damaging |
Het |
Rfc1 |
T |
C |
5: 65,434,729 (GRCm39) |
N679S |
probably benign |
Het |
Rpl4 |
C |
T |
9: 64,084,335 (GRCm39) |
A220V |
probably damaging |
Het |
Rxra |
G |
A |
2: 27,638,668 (GRCm39) |
E224K |
possibly damaging |
Het |
Slc26a7 |
A |
G |
4: 14,516,159 (GRCm39) |
C557R |
possibly damaging |
Het |
Sncaip |
A |
G |
18: 53,002,136 (GRCm39) |
K219R |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Sphkap |
A |
G |
1: 83,234,978 (GRCm39) |
V1616A |
probably damaging |
Het |
Sulf1 |
T |
C |
1: 12,912,979 (GRCm39) |
C738R |
probably damaging |
Het |
Suz12 |
T |
A |
11: 79,892,998 (GRCm39) |
C38* |
probably null |
Het |
Ttn |
T |
C |
2: 76,550,842 (GRCm39) |
T23190A |
probably damaging |
Het |
Twnk |
A |
G |
19: 44,995,855 (GRCm39) |
D96G |
probably benign |
Het |
Vcan |
T |
A |
13: 89,860,500 (GRCm39) |
N289I |
probably damaging |
Het |
Vmn2r120 |
A |
T |
17: 57,816,187 (GRCm39) |
S723T |
probably damaging |
Het |
Vmn2r97 |
A |
T |
17: 19,134,770 (GRCm39) |
I63F |
probably benign |
Het |
Washc5 |
T |
C |
15: 59,222,021 (GRCm39) |
N125S |
probably benign |
Het |
Zfp865 |
A |
G |
7: 5,033,548 (GRCm39) |
Y511C |
probably 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 |
|
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 |
|
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 |
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'- AGGCACATCCCACTTTGACC -3'
(R):5'- TAGGGATGACTGGGTCACTG -3'
Sequencing Primer
(F):5'- CTATTGAGAGCCACACCATATGGG -3'
(R):5'- TCACTGGCCTTGGGAGCAATG -3'
|
Posted On |
2018-10-18 |