Incidental Mutation 'R7739:Cpsf1'
ID |
596452 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
045795-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R7739 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 76484511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 657
(M657L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000160784]
[ENSMUST00000161612]
[ENSMUST00000161732]
[ENSMUST00000162503]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
AlphaFold |
Q9EPU4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071898
AA Change: M657L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: M657L
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: 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 |
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 |
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 |
probably benign
Transcript: ENSMUST00000229287
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230157
AA Change: M657L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
C |
A |
15: 57,885,875 (GRCm39) |
A336S |
probably benign |
Het |
Abca8b |
A |
G |
11: 109,865,417 (GRCm39) |
S347P |
probably benign |
Het |
Acvr1 |
T |
C |
2: 58,352,983 (GRCm39) |
T326A |
possibly damaging |
Het |
Atp13a4 |
A |
G |
16: 29,275,419 (GRCm39) |
I355T |
|
Het |
Atp2a2 |
G |
A |
5: 122,607,768 (GRCm39) |
T247I |
probably damaging |
Het |
Atp2b1 |
T |
A |
10: 98,837,227 (GRCm39) |
D555E |
probably benign |
Het |
Aurkb |
G |
T |
11: 68,939,058 (GRCm39) |
G94* |
probably null |
Het |
B130006D01Rik |
A |
T |
11: 95,616,986 (GRCm39) |
H37L |
unknown |
Het |
Cabin1 |
A |
G |
10: 75,494,492 (GRCm39) |
L1629P |
probably damaging |
Het |
Ccdc168 |
G |
A |
1: 44,095,578 (GRCm39) |
T1840I |
possibly damaging |
Het |
Ccdc80 |
A |
C |
16: 44,916,186 (GRCm39) |
D314A |
probably benign |
Het |
Cdc42bpg |
T |
A |
19: 6,360,845 (GRCm39) |
I201N |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,761,653 (GRCm39) |
L2246P |
probably damaging |
Het |
Dmtf1 |
A |
G |
5: 9,190,453 (GRCm39) |
V87A |
probably damaging |
Het |
Drd5 |
G |
T |
5: 38,477,421 (GRCm39) |
W138L |
probably damaging |
Het |
Dspp |
G |
A |
5: 104,326,012 (GRCm39) |
D792N |
unknown |
Het |
Fat2 |
C |
A |
11: 55,171,957 (GRCm39) |
E2919* |
probably null |
Het |
Fgf20 |
A |
G |
8: 40,732,937 (GRCm39) |
V167A |
probably damaging |
Het |
Grm5 |
T |
C |
7: 87,779,266 (GRCm39) |
V934A |
possibly damaging |
Het |
Gtf3c3 |
G |
T |
1: 54,444,198 (GRCm39) |
A730D |
possibly damaging |
Het |
H2-T24 |
A |
G |
17: 36,325,483 (GRCm39) |
V335A |
probably benign |
Het |
Havcr2 |
T |
G |
11: 46,347,384 (GRCm39) |
N120K |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,348,038 (GRCm39) |
F4895L |
possibly damaging |
Het |
Igsf3 |
T |
C |
3: 101,342,847 (GRCm39) |
Y475H |
probably damaging |
Het |
Lonp1 |
T |
C |
17: 56,933,620 (GRCm39) |
D85G |
probably benign |
Het |
Lrrc49 |
T |
C |
9: 60,500,975 (GRCm39) |
S657G |
probably benign |
Het |
Lrrk2 |
T |
A |
15: 91,584,816 (GRCm39) |
Y382N |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,279,391 (GRCm39) |
D3870G |
probably damaging |
Het |
Mtf1 |
T |
A |
4: 124,718,081 (GRCm39) |
C260S |
probably damaging |
Het |
Naa35 |
A |
G |
13: 59,747,598 (GRCm39) |
D110G |
probably damaging |
Het |
Npas3 |
A |
T |
12: 54,115,501 (GRCm39) |
T808S |
probably damaging |
Het |
Or5a1 |
A |
G |
19: 12,097,909 (GRCm39) |
W56R |
probably damaging |
Het |
Pax9 |
A |
T |
12: 56,746,884 (GRCm39) |
H240L |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,993,529 (GRCm39) |
T413A |
probably benign |
Het |
Pik3r1 |
A |
G |
13: 101,846,205 (GRCm39) |
V127A |
probably benign |
Het |
Pik3r5 |
A |
G |
11: 68,381,324 (GRCm39) |
E170G |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,931,819 (GRCm39) |
I966T |
possibly damaging |
Het |
Prelid2 |
A |
G |
18: 42,045,433 (GRCm39) |
|
probably null |
Het |
Rab29 |
T |
A |
1: 131,799,923 (GRCm39) |
M166K |
probably damaging |
Het |
Rab2b |
T |
C |
14: 52,503,717 (GRCm39) |
E135G |
probably damaging |
Het |
Rnf103 |
T |
A |
6: 71,486,463 (GRCm39) |
S365T |
possibly damaging |
Het |
Rnf213 |
G |
A |
11: 119,301,687 (GRCm39) |
E387K |
|
Het |
Sh3d19 |
T |
C |
3: 86,031,038 (GRCm39) |
V734A |
probably benign |
Het |
Spata31e5 |
T |
A |
1: 28,816,689 (GRCm39) |
T448S |
possibly damaging |
Het |
Spmip3 |
T |
A |
1: 177,570,828 (GRCm39) |
I54K |
probably damaging |
Het |
Ssbp1 |
T |
G |
6: 40,454,914 (GRCm39) |
N124K |
probably damaging |
Het |
Tbc1d31 |
C |
T |
15: 57,799,494 (GRCm39) |
R227* |
probably null |
Het |
Tcerg1 |
A |
G |
18: 42,657,039 (GRCm39) |
T174A |
unknown |
Het |
Tenm2 |
T |
C |
11: 35,960,388 (GRCm39) |
S980G |
possibly damaging |
Het |
Trim30a |
T |
C |
7: 104,079,386 (GRCm39) |
I156M |
possibly damaging |
Het |
Trim39 |
T |
C |
17: 36,571,396 (GRCm39) |
D454G |
possibly damaging |
Het |
Trpc7 |
A |
T |
13: 56,921,579 (GRCm39) |
*863K |
probably null |
Het |
Tubgcp3 |
A |
G |
8: 12,707,561 (GRCm39) |
Y143H |
probably benign |
Het |
Vmn1r33 |
C |
T |
6: 66,589,357 (GRCm39) |
D66N |
probably benign |
Het |
Vmn2r8 |
A |
T |
5: 108,950,043 (GRCm39) |
I268N |
probably damaging |
Het |
Vmn2r91 |
A |
C |
17: 18,356,080 (GRCm39) |
E582D |
probably benign |
Het |
Vtcn1 |
T |
C |
3: 100,791,211 (GRCm39) |
F83S |
probably damaging |
Het |
Wdr81 |
G |
T |
11: 75,332,811 (GRCm39) |
D684E |
|
Het |
Wipi1 |
A |
G |
11: 109,470,535 (GRCm39) |
S295P |
probably damaging |
Het |
Zfp27 |
A |
T |
7: 29,593,699 (GRCm39) |
H755Q |
possibly damaging |
Het |
Zfp963 |
A |
G |
8: 70,195,533 (GRCm39) |
F307L |
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 |
|
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 |
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 |
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'- GCAATCACCTTGGACTGCTG -3'
(R):5'- TTGTTCAAGTCTCGCCACTG -3'
Sequencing Primer
(F):5'- ATCACCTTGGACTGCTGTAGGAAG -3'
(R):5'- AACCACCTTGTCCACAGT -3'
|
Posted On |
2019-11-26 |