Incidental Mutation 'R9627:Cpsf1'
ID |
725245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R9627 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 76484088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 744
(M744K)
|
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 damaging
Transcript: ENSMUST00000071898
AA Change: M744K
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: M744K
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 damaging
Transcript: ENSMUST00000230157
AA Change: M744K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
T |
2: 68,487,834 (GRCm39) |
|
probably benign |
Het |
Abca14 |
T |
C |
7: 119,854,530 (GRCm39) |
V898A |
probably benign |
Het |
Adamtsl1 |
A |
T |
4: 86,306,762 (GRCm39) |
D1400V |
possibly damaging |
Het |
Akap6 |
T |
A |
12: 53,151,413 (GRCm39) |
M1159K |
|
Het |
Atg13 |
C |
A |
2: 91,509,098 (GRCm39) |
G446* |
probably null |
Het |
Atp6v1g2 |
G |
T |
17: 35,454,956 (GRCm39) |
|
probably null |
Het |
Bmp2k |
C |
T |
5: 97,201,028 (GRCm39) |
A316V |
possibly damaging |
Het |
Ccdc34 |
AAGA |
AA |
2: 109,871,010 (GRCm39) |
|
probably null |
Het |
Cfap251 |
A |
G |
5: 123,460,557 (GRCm39) |
D1173G |
probably benign |
Het |
Cln6 |
T |
A |
9: 62,754,303 (GRCm39) |
I115N |
probably damaging |
Het |
Cma1 |
T |
C |
14: 56,181,289 (GRCm39) |
T39A |
probably benign |
Het |
Csf1r |
A |
G |
18: 61,260,972 (GRCm39) |
Y721C |
probably damaging |
Het |
Dcaf12 |
A |
G |
4: 41,293,976 (GRCm39) |
L387P |
probably benign |
Het |
Ephb1 |
T |
C |
9: 101,918,468 (GRCm39) |
E347G |
possibly damaging |
Het |
Fig4 |
T |
A |
10: 41,108,178 (GRCm39) |
H674L |
probably benign |
Het |
Foxa3 |
T |
A |
7: 18,748,458 (GRCm39) |
K223* |
probably null |
Het |
Gimap7 |
T |
C |
6: 48,700,600 (GRCm39) |
V62A |
probably damaging |
Het |
Glrx3 |
T |
A |
7: 137,046,755 (GRCm39) |
V49E |
probably benign |
Het |
Greb1 |
T |
C |
12: 16,756,167 (GRCm39) |
Y823C |
probably damaging |
Het |
H3c7 |
G |
T |
13: 23,728,793 (GRCm39) |
V47L |
possibly damaging |
Het |
Hapln4 |
C |
A |
8: 70,539,520 (GRCm39) |
R184S |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,506,054 (GRCm39) |
C3824Y |
probably damaging |
Het |
Hrnr |
T |
C |
3: 93,233,235 (GRCm39) |
S1158P |
unknown |
Het |
Itln1 |
A |
G |
1: 171,360,985 (GRCm39) |
S36P |
probably benign |
Het |
Kcnh5 |
A |
C |
12: 75,160,990 (GRCm39) |
I306S |
probably damaging |
Het |
Kctd19 |
T |
A |
8: 106,113,997 (GRCm39) |
M559L |
probably benign |
Het |
Kif2a |
A |
G |
13: 107,158,558 (GRCm39) |
I9T |
possibly damaging |
Het |
Klra5 |
G |
A |
6: 129,883,701 (GRCm39) |
T142I |
probably benign |
Het |
Ldlrad3 |
A |
G |
2: 101,785,423 (GRCm39) |
V184A |
probably damaging |
Het |
Lrrc27 |
T |
C |
7: 138,808,582 (GRCm39) |
|
probably benign |
Het |
Mark1 |
A |
G |
1: 184,646,817 (GRCm39) |
V340A |
probably benign |
Het |
Mrps31 |
T |
C |
8: 22,901,558 (GRCm39) |
V26A |
probably benign |
Het |
Mtrr |
G |
A |
13: 68,725,756 (GRCm39) |
L118F |
probably damaging |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Nbas |
G |
T |
12: 13,350,203 (GRCm39) |
V285F |
possibly damaging |
Het |
Nfrkb |
T |
C |
9: 31,321,189 (GRCm39) |
L675P |
possibly damaging |
Het |
Or10v9 |
T |
A |
19: 11,832,910 (GRCm39) |
I136F |
possibly damaging |
Het |
Or1q1 |
T |
A |
2: 36,887,665 (GRCm39) |
V281E |
|
Het |
Or5k15 |
T |
A |
16: 58,709,771 (GRCm39) |
I271L |
probably benign |
Het |
Phkg1 |
C |
T |
5: 129,893,376 (GRCm39) |
W358* |
probably null |
Het |
Plekhj1 |
A |
C |
10: 80,633,494 (GRCm39) |
I51S |
possibly damaging |
Het |
Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
Prkg2 |
T |
C |
5: 99,079,869 (GRCm39) |
*763W |
probably null |
Het |
Rhobtb2 |
A |
G |
14: 70,034,349 (GRCm39) |
F292S |
probably damaging |
Het |
Rlf |
A |
T |
4: 121,007,002 (GRCm39) |
C769* |
probably null |
Het |
Rmi1 |
C |
A |
13: 58,557,366 (GRCm39) |
D538E |
possibly damaging |
Het |
Scn4a |
C |
T |
11: 106,212,839 (GRCm39) |
V1389I |
probably benign |
Het |
Serpinc1 |
A |
T |
1: 160,821,101 (GRCm39) |
K183* |
probably null |
Het |
Setd4 |
A |
T |
16: 93,380,562 (GRCm39) |
M399K |
possibly damaging |
Het |
Setx |
T |
C |
2: 29,034,661 (GRCm39) |
M382T |
probably damaging |
Het |
Slc6a9 |
A |
G |
4: 117,721,210 (GRCm39) |
Y208C |
probably damaging |
Het |
Slfn2 |
A |
T |
11: 82,960,367 (GRCm39) |
K115N |
|
Het |
Snrk |
A |
T |
9: 121,966,427 (GRCm39) |
K117* |
probably null |
Het |
Spata31 |
A |
G |
13: 65,065,409 (GRCm39) |
Y38C |
possibly damaging |
Het |
Stab2 |
T |
C |
10: 86,793,704 (GRCm39) |
T464A |
probably damaging |
Het |
Tagap1 |
C |
T |
17: 7,224,327 (GRCm39) |
G123D |
probably benign |
Het |
Tas2r136 |
T |
C |
6: 132,754,948 (GRCm39) |
K60E |
possibly damaging |
Het |
Tasor |
T |
C |
14: 27,194,123 (GRCm39) |
S1108P |
probably benign |
Het |
Tmem200b |
A |
C |
4: 131,649,437 (GRCm39) |
Y119S |
probably damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Wwp2 |
T |
G |
8: 108,278,959 (GRCm39) |
L578W |
probably damaging |
Het |
Zfp53 |
T |
A |
17: 21,728,745 (GRCm39) |
C259* |
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 |
|
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 |
|
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'- TCTGCAGAGAGGCAATGGTC -3'
(R):5'- ATGTTCACCACTGAGAGCCG -3'
Sequencing Primer
(F):5'- ACAGGCTCTGTGCAGTAGTGC -3'
(R):5'- ACTGAGAGCCGCCTGGG -3'
|
Posted On |
2022-09-12 |