Incidental Mutation 'R0487:Cpsf1'
ID |
42374 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
038686-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R0487 (G1)
|
Quality Score |
181 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 76481202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 1218
(N1218I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000160784]
[ENSMUST00000162503]
[ENSMUST00000161732]
[ENSMUST00000161612]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
AlphaFold |
Q9EPU4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071898
AA Change: N1218I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: N1218I
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: ENSMUST00000161311
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162254
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161783
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229504
|
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 |
probably benign
Transcript: ENSMUST00000229287
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229367
|
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: ENSMUST00000229798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229269
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229437
|
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 |
probably damaging
Transcript: ENSMUST00000230157
AA Change: N1218I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230822
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231009
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230557
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.6%
|
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 |
Abca13 |
A |
T |
11: 9,281,687 (GRCm39) |
M3190L |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,637,154 (GRCm39) |
L3429H |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,991,484 (GRCm39) |
D4256G |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,984,515 (GRCm39) |
N1933S |
probably benign |
Het |
Amacr |
A |
G |
15: 10,984,835 (GRCm39) |
D151G |
probably benign |
Het |
Ano9 |
A |
T |
7: 140,687,762 (GRCm39) |
H255Q |
possibly damaging |
Het |
Asphd2 |
A |
T |
5: 112,539,501 (GRCm39) |
Y111N |
possibly damaging |
Het |
Cage1 |
T |
A |
13: 38,209,334 (GRCm39) |
K214N |
probably benign |
Het |
Cdkn2c |
A |
G |
4: 109,518,606 (GRCm39) |
L116P |
probably damaging |
Het |
Cltc |
C |
T |
11: 86,624,490 (GRCm39) |
R148H |
probably damaging |
Het |
Cmbl |
A |
G |
15: 31,582,176 (GRCm39) |
N58D |
probably damaging |
Het |
Cpa6 |
T |
C |
1: 10,479,487 (GRCm39) |
T249A |
possibly damaging |
Het |
Csf2rb |
T |
C |
15: 78,232,531 (GRCm39) |
S613P |
probably benign |
Het |
Ctnnd1 |
A |
G |
2: 84,439,411 (GRCm39) |
S761P |
probably damaging |
Het |
Cxcr6 |
A |
C |
9: 123,639,463 (GRCm39) |
I155L |
probably benign |
Het |
Ecpas |
A |
G |
4: 58,819,155 (GRCm39) |
V1265A |
probably damaging |
Het |
Fam216a |
A |
G |
5: 122,508,576 (GRCm39) |
|
probably null |
Het |
Fgf10 |
T |
A |
13: 118,918,147 (GRCm39) |
|
probably null |
Het |
Fgf17 |
T |
C |
14: 70,875,996 (GRCm39) |
T79A |
probably damaging |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gm1527 |
G |
T |
3: 28,980,828 (GRCm39) |
V643L |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,276,689 (GRCm39) |
Q1556L |
possibly damaging |
Het |
Hspa4l |
C |
T |
3: 40,738,758 (GRCm39) |
T616I |
possibly damaging |
Het |
Irag2 |
A |
G |
6: 145,110,986 (GRCm39) |
S264G |
probably benign |
Het |
Irgm1 |
T |
C |
11: 48,757,154 (GRCm39) |
D219G |
probably damaging |
Het |
Jcad |
A |
G |
18: 4,673,243 (GRCm39) |
D335G |
probably damaging |
Het |
Kcnh4 |
A |
G |
11: 100,641,084 (GRCm39) |
F455S |
probably damaging |
Het |
Khdrbs3 |
T |
C |
15: 68,889,210 (GRCm39) |
Y120H |
probably damaging |
Het |
Kndc1 |
A |
T |
7: 139,493,939 (GRCm39) |
T507S |
probably null |
Het |
Lepr |
G |
T |
4: 101,625,290 (GRCm39) |
E482* |
probably null |
Het |
Mcemp1 |
T |
A |
8: 3,717,507 (GRCm39) |
M146K |
probably benign |
Het |
Mllt10 |
A |
G |
2: 18,211,948 (GRCm39) |
T411A |
probably damaging |
Het |
Myh8 |
A |
T |
11: 67,192,837 (GRCm39) |
I1543L |
probably benign |
Het |
Myo1f |
T |
C |
17: 33,797,258 (GRCm39) |
S147P |
probably damaging |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Or5j1 |
C |
T |
2: 86,878,837 (GRCm39) |
V248I |
probably damaging |
Het |
Plaat1 |
G |
A |
16: 29,039,331 (GRCm39) |
|
probably null |
Het |
Plch2 |
G |
A |
4: 155,093,469 (GRCm39) |
R57C |
probably damaging |
Het |
Rbm20 |
G |
A |
19: 53,839,626 (GRCm39) |
G872R |
probably damaging |
Het |
Retsat |
A |
T |
6: 72,583,414 (GRCm39) |
I373F |
probably damaging |
Het |
Rnf145 |
T |
C |
11: 44,446,056 (GRCm39) |
F297L |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,031,204 (GRCm39) |
M479K |
possibly damaging |
Het |
Rubcnl |
T |
A |
14: 75,273,521 (GRCm39) |
N244K |
probably benign |
Het |
Samhd1 |
A |
G |
2: 156,952,535 (GRCm39) |
F406L |
probably damaging |
Het |
Sdsl |
A |
T |
5: 120,597,533 (GRCm39) |
V258D |
probably damaging |
Het |
Sec24c |
C |
G |
14: 20,733,467 (GRCm39) |
P166A |
probably benign |
Het |
Sele |
C |
A |
1: 163,881,184 (GRCm39) |
Y461* |
probably null |
Het |
Slc22a1 |
G |
T |
17: 12,881,487 (GRCm39) |
S334* |
probably null |
Het |
Spem1 |
T |
G |
11: 69,712,691 (GRCm39) |
|
probably null |
Het |
Stat3 |
T |
C |
11: 100,794,469 (GRCm39) |
E280G |
probably damaging |
Het |
Stxbp4 |
T |
C |
11: 90,483,186 (GRCm39) |
H280R |
probably benign |
Het |
Tas2r129 |
G |
A |
6: 132,928,906 (GRCm39) |
C281Y |
probably benign |
Het |
Tas2r129 |
T |
G |
6: 132,928,907 (GRCm39) |
C281W |
probably benign |
Het |
Tcp11 |
T |
A |
17: 28,298,897 (GRCm39) |
|
probably null |
Het |
Tnrc6b |
G |
A |
15: 80,764,876 (GRCm39) |
V793M |
probably benign |
Het |
Vmn2r59 |
A |
C |
7: 41,696,528 (GRCm39) |
Y71* |
probably null |
Het |
Wdr35 |
T |
C |
12: 9,062,743 (GRCm39) |
|
probably null |
Het |
Zan |
A |
G |
5: 137,411,620 (GRCm39) |
|
probably null |
Het |
Zap70 |
G |
T |
1: 36,818,365 (GRCm39) |
V351L |
probably damaging |
Het |
Zfp609 |
G |
T |
9: 65,609,916 (GRCm39) |
Q1016K |
unknown |
Het |
Zfp641 |
C |
A |
15: 98,187,060 (GRCm39) |
V188L |
probably benign |
Het |
Zpld2 |
A |
T |
4: 133,930,089 (GRCm39) |
L72Q |
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 |
|
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 |
|
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'- GGCATTGTCCACCATGAAGTCCAC -3'
(R):5'- AAAAGTGTGTGACCTCTCCCCTCC -3'
Sequencing Primer
(F):5'- GTATACCTCCAAAGGCTTGGC -3'
(R):5'- cctctcccctcccctcc -3'
|
Posted On |
2013-05-23 |