Incidental Mutation 'R7878:Cpsf1'
ID |
608596 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
045930-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R7878 (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 G
at 76484700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 619
(V619A)
|
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: V619A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: V619A
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: V619A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
G |
A |
10: 20,857,330 (GRCm39) |
|
probably null |
Het |
Ak7 |
T |
A |
12: 105,733,008 (GRCm39) |
I584N |
probably damaging |
Het |
Akip1 |
A |
T |
7: 109,306,609 (GRCm39) |
Y102F |
probably damaging |
Het |
Alg9 |
T |
C |
9: 50,754,083 (GRCm39) |
Y588H |
probably benign |
Het |
Arid1a |
A |
T |
4: 133,414,582 (GRCm39) |
N831K |
unknown |
Het |
Bcl2l11 |
T |
A |
2: 127,970,608 (GRCm39) |
L19* |
probably null |
Het |
Btn1a1 |
T |
C |
13: 23,643,214 (GRCm39) |
T412A |
possibly damaging |
Het |
Ccbe1 |
T |
C |
18: 66,209,462 (GRCm39) |
N193D |
possibly damaging |
Het |
Ccdc168 |
T |
C |
1: 44,095,174 (GRCm39) |
S1975G |
probably benign |
Het |
Cd96 |
A |
G |
16: 45,938,139 (GRCm39) |
S109P |
probably damaging |
Het |
Cdh23 |
A |
C |
10: 60,149,979 (GRCm39) |
I2622S |
possibly damaging |
Het |
Cmya5 |
G |
T |
13: 93,226,265 (GRCm39) |
T2941K |
probably damaging |
Het |
Cntn1 |
T |
C |
15: 92,192,934 (GRCm39) |
Y679H |
probably damaging |
Het |
Elp5 |
T |
A |
11: 69,861,425 (GRCm39) |
I185F |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,938,917 (GRCm39) |
V55A |
probably benign |
Het |
Kif1b |
A |
T |
4: 149,299,454 (GRCm39) |
Y985N |
probably damaging |
Het |
Lao1 |
A |
G |
4: 118,824,619 (GRCm39) |
N234D |
probably benign |
Het |
Lima1 |
C |
T |
15: 99,717,431 (GRCm39) |
V192I |
probably benign |
Het |
Lrp2 |
T |
G |
2: 69,338,153 (GRCm39) |
D1209A |
probably damaging |
Het |
Lrp2 |
C |
A |
2: 69,338,154 (GRCm39) |
D1209Y |
probably damaging |
Het |
Luzp1 |
A |
G |
4: 136,269,163 (GRCm39) |
H462R |
probably benign |
Het |
Mab21l1 |
A |
T |
3: 55,691,438 (GRCm39) |
T342S |
probably benign |
Het |
Mst1 |
T |
C |
9: 107,961,812 (GRCm39) |
V657A |
probably benign |
Het |
Mtmr11 |
A |
G |
3: 96,076,515 (GRCm39) |
K490R |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,978,077 (GRCm39) |
D383G |
probably damaging |
Het |
Nectin1 |
G |
A |
9: 43,715,198 (GRCm39) |
G478D |
probably benign |
Het |
Nrip1 |
A |
G |
16: 76,091,554 (GRCm39) |
M1T |
probably null |
Het |
Odad1 |
A |
G |
7: 45,573,984 (GRCm39) |
E17G |
possibly damaging |
Het |
Odad2 |
G |
T |
18: 7,217,801 (GRCm39) |
H638N |
probably benign |
Het |
Or1j10 |
A |
G |
2: 36,267,145 (GRCm39) |
D119G |
probably damaging |
Het |
Or52z15 |
A |
T |
7: 103,332,471 (GRCm39) |
H182L |
probably damaging |
Het |
Pnisr |
C |
A |
4: 21,874,370 (GRCm39) |
F704L |
unknown |
Het |
Ptpn21 |
T |
A |
12: 98,681,387 (GRCm39) |
K82N |
probably damaging |
Het |
Pyroxd2 |
T |
G |
19: 42,731,104 (GRCm39) |
|
probably null |
Het |
Pzp |
A |
G |
6: 128,489,274 (GRCm39) |
S446P |
possibly damaging |
Het |
Rbck1 |
T |
A |
2: 152,160,330 (GRCm39) |
I450F |
probably damaging |
Het |
Rnase4 |
T |
A |
14: 51,342,333 (GRCm39) |
L19Q |
probably damaging |
Het |
Rrp9 |
A |
G |
9: 106,358,516 (GRCm39) |
E118G |
probably damaging |
Het |
Sec22a |
A |
G |
16: 35,168,005 (GRCm39) |
S169P |
probably benign |
Het |
Sema5b |
G |
A |
16: 35,481,996 (GRCm39) |
S957N |
probably benign |
Het |
Serpina3g |
A |
T |
12: 104,204,361 (GRCm39) |
|
probably benign |
Het |
Skint2 |
A |
T |
4: 112,506,942 (GRCm39) |
I322F |
possibly damaging |
Het |
Spata31h1 |
G |
A |
10: 82,119,856 (GRCm39) |
R4385W |
probably benign |
Het |
Sspo |
G |
A |
6: 48,469,460 (GRCm39) |
C4471Y |
probably damaging |
Het |
Stk16 |
T |
A |
1: 75,189,589 (GRCm39) |
L167* |
probably null |
Het |
Tanc2 |
G |
A |
11: 105,804,241 (GRCm39) |
R245H |
|
Het |
Tdpoz1 |
G |
A |
3: 93,578,431 (GRCm39) |
Q118* |
probably null |
Het |
Tekt3 |
C |
T |
11: 62,961,277 (GRCm39) |
R149* |
probably null |
Het |
Tenm4 |
A |
G |
7: 96,501,564 (GRCm39) |
E1256G |
probably damaging |
Het |
Tie1 |
G |
A |
4: 118,335,621 (GRCm39) |
R791C |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,299,411 (GRCm39) |
S1204T |
possibly damaging |
Het |
Trim28 |
G |
T |
7: 12,758,289 (GRCm39) |
|
probably benign |
Het |
Ucp1 |
A |
G |
8: 84,024,521 (GRCm39) |
N282S |
probably benign |
Het |
Unc80 |
T |
A |
1: 66,640,300 (GRCm39) |
D1402E |
possibly damaging |
Het |
Vmn1r69 |
T |
A |
7: 10,314,717 (GRCm39) |
T5S |
probably benign |
Het |
Zfyve28 |
T |
A |
5: 34,356,999 (GRCm39) |
K733M |
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 |
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 |
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'- TGATAACCACATAGGGATCAGCC -3'
(R):5'- TTATTCTTAGCCGGGAAGACTC -3'
Sequencing Primer
(F):5'- ATAGGGATCAGCCACGGCAC -3'
(R):5'- TTAGCCGGGAAGACTCAACCATG -3'
|
Posted On |
2019-12-20 |