Incidental Mutation 'R0044:Cpsf1'
ID |
32909 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
038338-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R0044 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76483753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 830
(V830A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000160784]
[ENSMUST00000162503]
[ENSMUST00000161612]
[ENSMUST00000161732]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
AlphaFold |
Q9EPU4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071898
AA Change: V830A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: V830A
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: 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: ENSMUST00000161783
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162254
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229007
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229269
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229367
|
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: 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 |
noncoding transcript
Transcript: ENSMUST00000229015
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230157
AA Change: V830A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231009
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229504
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230822
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230557
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229447
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229797
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
100% (77/77) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430571L13Rik |
A |
C |
9: 107,219,698 (GRCm39) |
R50S |
probably damaging |
Het |
Actn2 |
G |
T |
13: 12,290,013 (GRCm39) |
T176N |
possibly damaging |
Het |
Adamts7 |
T |
C |
9: 90,053,641 (GRCm39) |
V62A |
possibly damaging |
Het |
Adcy2 |
A |
G |
13: 68,876,018 (GRCm39) |
S495P |
possibly damaging |
Het |
Agbl3 |
A |
T |
6: 34,776,834 (GRCm39) |
M447L |
probably damaging |
Het |
Asxl1 |
C |
T |
2: 153,242,129 (GRCm39) |
T893I |
probably benign |
Het |
Atp11b |
T |
A |
3: 35,866,401 (GRCm39) |
I400N |
probably damaging |
Het |
Bpifb2 |
C |
T |
2: 153,724,599 (GRCm39) |
|
probably benign |
Het |
Capn1 |
T |
A |
19: 6,064,373 (GRCm39) |
Y42F |
probably benign |
Het |
Cdk5rap2 |
A |
T |
4: 70,279,138 (GRCm39) |
L190H |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,871,295 (GRCm39) |
I594V |
probably null |
Het |
Cyp2c70 |
T |
A |
19: 40,153,815 (GRCm39) |
N258I |
possibly damaging |
Het |
Dctn1 |
T |
G |
6: 83,168,116 (GRCm39) |
Y386D |
probably damaging |
Het |
Degs2 |
T |
C |
12: 108,658,413 (GRCm39) |
N189D |
probably damaging |
Het |
Dido1 |
C |
T |
2: 180,303,612 (GRCm39) |
A1431T |
probably damaging |
Het |
Diras1 |
G |
T |
10: 80,857,972 (GRCm39) |
S93* |
probably null |
Het |
E130308A19Rik |
T |
A |
4: 59,690,290 (GRCm39) |
H41Q |
possibly damaging |
Het |
Ebf2 |
C |
T |
14: 67,548,417 (GRCm39) |
|
probably benign |
Het |
Fcho2 |
A |
G |
13: 98,892,052 (GRCm39) |
|
probably benign |
Het |
Gbe1 |
T |
A |
16: 70,358,020 (GRCm39) |
Y681* |
probably null |
Het |
Gm10036 |
A |
C |
18: 15,965,873 (GRCm39) |
K8T |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,355,457 (GRCm39) |
M2236K |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,302,520 (GRCm39) |
Y2948F |
probably damaging |
Het |
Jakmip2 |
A |
T |
18: 43,715,170 (GRCm39) |
C119S |
probably benign |
Het |
Kif1b |
A |
G |
4: 149,348,058 (GRCm39) |
|
probably benign |
Het |
Kif6 |
T |
C |
17: 50,139,284 (GRCm39) |
|
probably benign |
Het |
Lpin1 |
A |
T |
12: 16,618,530 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,357,899 (GRCm39) |
I377V |
probably benign |
Het |
Mavs |
C |
A |
2: 131,083,944 (GRCm39) |
T147N |
probably damaging |
Het |
Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
Mreg |
T |
G |
1: 72,201,534 (GRCm39) |
T153P |
probably damaging |
Het |
Naglu |
T |
C |
11: 100,962,043 (GRCm39) |
I172T |
probably damaging |
Het |
Odad4 |
A |
T |
11: 100,457,827 (GRCm39) |
I477F |
probably damaging |
Het |
Ogdhl |
T |
C |
14: 32,061,285 (GRCm39) |
V492A |
possibly damaging |
Het |
Or4a72 |
A |
G |
2: 89,405,974 (GRCm39) |
I32T |
possibly damaging |
Het |
Parvg |
A |
G |
15: 84,222,083 (GRCm39) |
E323G |
probably benign |
Het |
Pgap1 |
A |
G |
1: 54,532,527 (GRCm39) |
L664S |
probably damaging |
Het |
Pgm2l1 |
A |
G |
7: 99,899,539 (GRCm39) |
N51S |
probably benign |
Het |
Pik3r6 |
A |
G |
11: 68,435,576 (GRCm39) |
T609A |
probably benign |
Het |
Plcb4 |
T |
A |
2: 135,813,776 (GRCm39) |
V705E |
probably damaging |
Het |
Plppr5 |
T |
A |
3: 117,465,538 (GRCm39) |
|
probably null |
Het |
Prkg2 |
C |
A |
5: 99,120,989 (GRCm39) |
D411Y |
probably damaging |
Het |
Ptprd |
A |
G |
4: 76,004,566 (GRCm39) |
V63A |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,007,402 (GRCm39) |
I1655N |
probably damaging |
Het |
Raf1 |
T |
A |
6: 115,600,476 (GRCm39) |
D10V |
probably benign |
Het |
Rexo1 |
T |
A |
10: 80,380,212 (GRCm39) |
Q928L |
probably benign |
Het |
Rpl7l1 |
A |
C |
17: 47,089,456 (GRCm39) |
|
probably null |
Het |
Rrm2b |
A |
G |
15: 37,953,932 (GRCm39) |
S39P |
possibly damaging |
Het |
Scn5a |
A |
G |
9: 119,321,113 (GRCm39) |
|
probably null |
Het |
Sgtb |
A |
G |
13: 104,265,768 (GRCm39) |
T93A |
probably benign |
Het |
Sigirr |
G |
T |
7: 140,672,226 (GRCm39) |
|
probably null |
Het |
Slc16a7 |
T |
C |
10: 125,063,951 (GRCm39) |
D462G |
probably benign |
Het |
Slc25a30 |
C |
T |
14: 76,007,089 (GRCm39) |
A85T |
probably benign |
Het |
Spata24 |
A |
G |
18: 35,789,887 (GRCm39) |
S167P |
probably damaging |
Het |
Spock3 |
C |
T |
8: 63,597,041 (GRCm39) |
T115I |
possibly damaging |
Het |
Srgap2 |
A |
G |
1: 131,247,289 (GRCm39) |
I581T |
possibly damaging |
Het |
Syn2 |
A |
T |
6: 115,112,108 (GRCm39) |
M23L |
unknown |
Het |
Synrg |
G |
A |
11: 83,900,007 (GRCm39) |
V839I |
probably damaging |
Het |
Tmtc1 |
A |
G |
6: 148,314,327 (GRCm39) |
|
probably benign |
Het |
Tnfaip3 |
C |
A |
10: 18,887,374 (GRCm39) |
M50I |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,202,972 (GRCm39) |
I721N |
possibly damaging |
Het |
Ttc22 |
T |
G |
4: 106,494,003 (GRCm39) |
V321G |
probably benign |
Het |
Ubr2 |
A |
G |
17: 47,303,911 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
C |
4: 139,164,369 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,269,281 (GRCm39) |
|
probably benign |
Het |
Vmn2r100 |
A |
T |
17: 19,742,441 (GRCm39) |
I272L |
possibly damaging |
Het |
Vrtn |
T |
A |
12: 84,695,379 (GRCm39) |
L43H |
probably damaging |
Het |
Wnk1 |
G |
T |
6: 120,014,110 (GRCm39) |
R162S |
probably damaging |
Het |
Xkr9 |
G |
A |
1: 13,754,286 (GRCm39) |
W93* |
probably null |
Het |
Zfp804b |
G |
T |
5: 6,819,655 (GRCm39) |
P1136H |
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 |
|
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 |
|
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'- TAAGAAGGGTCTAGCCACTGGCAC -3'
(R):5'- ATGGAGGTAGGCACATTGCACG -3'
Sequencing Primer
(F):5'- GGCACCTTTTTGAAACGGAC -3'
(R):5'- CATTGCACGCTGCCGAC -3'
|
Posted On |
2013-05-09 |