Incidental Mutation 'R7100:Cpsf1'
ID |
550786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
045192-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R7100 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 76480314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 1391
(N1391K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000160784]
[ENSMUST00000161612]
[ENSMUST00000161732]
[ENSMUST00000162503]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
AlphaFold |
Q9EPU4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071898
AA Change: N1391K
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: N1391K
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230157
AA Change: N1391K
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Meta Mutation Damage Score |
0.2804 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (54/55) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl10 |
A |
G |
2: 154,394,315 (GRCm39) |
E89G |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,419,016 (GRCm39) |
V5993E |
probably damaging |
Het |
Amdhd1 |
T |
C |
10: 93,372,936 (GRCm39) |
|
probably null |
Het |
Amph |
T |
C |
13: 19,334,011 (GRCm39) |
*691Q |
probably null |
Het |
Ankrd55 |
A |
G |
13: 112,492,644 (GRCm39) |
K272E |
probably benign |
Het |
Arhgef10l |
C |
T |
4: 140,244,126 (GRCm39) |
V838I |
possibly damaging |
Het |
Arl2 |
C |
A |
19: 6,184,774 (GRCm39) |
V160F |
probably benign |
Het |
Catsperb |
T |
C |
12: 101,412,297 (GRCm39) |
V128A |
possibly damaging |
Het |
Cdk11b |
T |
A |
4: 155,710,050 (GRCm39) |
L17H |
probably damaging |
Het |
Cpxm2 |
C |
T |
7: 131,656,544 (GRCm39) |
A573T |
probably benign |
Het |
Cspg4b |
T |
A |
13: 113,455,501 (GRCm39) |
F516I |
|
Het |
Daxx |
T |
C |
17: 34,130,416 (GRCm39) |
S144P |
probably damaging |
Het |
Dpp3 |
T |
C |
19: 4,968,069 (GRCm39) |
D303G |
probably damaging |
Het |
Fam181a |
T |
A |
12: 103,282,132 (GRCm39) |
N12K |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,111,018 (GRCm39) |
R1015S |
unknown |
Het |
Fstl5 |
A |
G |
3: 76,443,600 (GRCm39) |
H315R |
probably benign |
Het |
Fut4 |
A |
G |
9: 14,662,689 (GRCm39) |
S202P |
probably damaging |
Het |
Gm5114 |
T |
C |
7: 39,057,708 (GRCm39) |
D637G |
possibly damaging |
Het |
Gstcd |
G |
T |
3: 132,790,704 (GRCm39) |
T21K |
probably benign |
Het |
Heca |
C |
T |
10: 17,791,121 (GRCm39) |
V312M |
probably benign |
Het |
Herpud1 |
A |
G |
8: 95,117,475 (GRCm39) |
R144G |
probably damaging |
Het |
Hycc2 |
T |
A |
1: 58,573,653 (GRCm39) |
T384S |
possibly damaging |
Het |
Ino80 |
A |
G |
2: 119,204,994 (GRCm39) |
S1511P |
possibly damaging |
Het |
Irf2bp2 |
T |
C |
8: 127,318,472 (GRCm39) |
T365A |
probably benign |
Het |
Klk1 |
G |
A |
7: 43,878,848 (GRCm39) |
G214E |
probably damaging |
Het |
Lama3 |
A |
T |
18: 12,715,701 (GRCm39) |
N1719I |
possibly damaging |
Het |
Lmna |
A |
G |
3: 88,392,297 (GRCm39) |
I365T |
probably damaging |
Het |
Lrp8 |
C |
A |
4: 107,659,647 (GRCm39) |
A13E |
possibly damaging |
Het |
Ly75 |
A |
G |
2: 60,136,778 (GRCm39) |
L1483P |
probably benign |
Het |
Maco1 |
T |
C |
4: 134,533,971 (GRCm39) |
D550G |
probably damaging |
Het |
Mid1 |
A |
G |
X: 168,768,073 (GRCm39) |
D407G |
probably benign |
Het |
Mpl |
G |
T |
4: 118,314,607 (GRCm39) |
A21E |
|
Het |
Mus81 |
C |
T |
19: 5,534,239 (GRCm39) |
G360S |
probably damaging |
Het |
Nmt2 |
T |
A |
2: 3,313,950 (GRCm39) |
S250T |
probably benign |
Het |
Nr1d1 |
C |
A |
11: 98,662,160 (GRCm39) |
R158L |
probably damaging |
Het |
Pcgf6 |
G |
A |
19: 47,039,153 (GRCm39) |
P36S |
unknown |
Het |
Pcnx2 |
G |
A |
8: 126,485,853 (GRCm39) |
A1915V |
probably benign |
Het |
Peak1 |
A |
G |
9: 56,166,677 (GRCm39) |
V417A |
probably damaging |
Het |
Phf20l1 |
A |
G |
15: 66,476,689 (GRCm39) |
N262S |
probably benign |
Het |
Plaat5 |
T |
A |
19: 7,616,923 (GRCm39) |
F313I |
unknown |
Het |
Ppp2r5d |
A |
G |
17: 46,996,608 (GRCm39) |
V355A |
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,636,897 (GRCm39) |
T395A |
probably benign |
Het |
Rims1 |
T |
A |
1: 22,416,697 (GRCm39) |
I432F |
probably benign |
Het |
Rnf123 |
C |
T |
9: 107,933,838 (GRCm39) |
C1080Y |
probably damaging |
Het |
Serpina3g |
T |
C |
12: 104,204,570 (GRCm39) |
|
probably benign |
Het |
Shank2 |
T |
A |
7: 143,964,901 (GRCm39) |
D836E |
possibly damaging |
Het |
Slc24a5 |
A |
C |
2: 124,922,591 (GRCm39) |
S118R |
probably damaging |
Het |
Smg1 |
G |
T |
7: 117,783,743 (GRCm39) |
H1048N |
unknown |
Het |
Specc1l |
T |
G |
10: 75,081,329 (GRCm39) |
S242A |
probably benign |
Het |
Tagap1 |
A |
T |
17: 7,224,111 (GRCm39) |
L195Q |
possibly damaging |
Het |
Trpc3 |
C |
A |
3: 36,704,216 (GRCm39) |
E580D |
probably benign |
Het |
Ttn |
A |
T |
2: 76,541,166 (GRCm39) |
V33940E |
probably benign |
Het |
Upp2 |
G |
T |
2: 58,681,817 (GRCm39) |
R318L |
probably benign |
Het |
Vezt |
T |
A |
10: 93,832,795 (GRCm39) |
E205D |
probably benign |
Het |
Vmn1r177 |
A |
G |
7: 23,565,535 (GRCm39) |
F114L |
probably benign |
Het |
Vmn2r53 |
C |
A |
7: 12,315,513 (GRCm39) |
E769* |
probably null |
Het |
Vnn3 |
T |
C |
10: 23,741,840 (GRCm39) |
Y382H |
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 |
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'- CTGTCTCCAGCAAGTCATCC -3'
(R):5'- GAAAAGACATACCGACGCTTGC -3'
Sequencing Primer
(F):5'- CAGCAAGTCATCCAGGATCTGTG -3'
(R):5'- ACATACCGACGCTTGCTGATG -3'
|
Posted On |
2019-05-15 |