Incidental Mutation 'R0044:Cpsf1'
| ID |
18551 |
| 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: 0.972)
|
| Stock # |
R0044 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76595803-76607591 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76599553 bp (GRCm38)
|
| 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]
[ENSMUST00000161612]
[ENSMUST00000161732]
[ENSMUST00000162503]
[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 |
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: ENSMUST00000161783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162254
|
| 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: ENSMUST00000229007
|
| 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: ENSMUST00000229437
|
| 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: ENSMUST00000229269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229367
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230557
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229287
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229797
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 79.0%
- 3x: 68.4%
- 10x: 42.5%
- 20x: 22.8%
|
| Validation Efficiency |
98% (58/59) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,146,186 |
|
probably benign |
Het |
| Adcy2 |
A |
G |
13: 68,727,899 |
S495P |
possibly damaging |
Het |
| Asxl1 |
C |
T |
2: 153,400,209 |
T893I |
probably benign |
Het |
| Bpifb2 |
C |
T |
2: 153,882,679 |
|
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,360,901 |
L190H |
probably damaging |
Het |
| Degs2 |
T |
C |
12: 108,692,154 |
N189D |
probably damaging |
Het |
| Dido1 |
C |
T |
2: 180,661,819 |
A1431T |
probably damaging |
Het |
| Diras1 |
G |
T |
10: 81,022,138 |
S93* |
probably null |
Het |
| Emc3 |
C |
G |
6: 113,531,383 |
V34L |
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,561,132 |
Y681* |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,448,175 |
M2236K |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,412,508 |
Y2948F |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,263,601 |
|
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,527,555 |
I377F |
probably damaging |
Het |
| Mavs |
C |
A |
2: 131,242,024 |
T147N |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 146,183,561 |
T374M |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,339,328 |
V492A |
possibly damaging |
Het |
| Parvg |
A |
G |
15: 84,337,882 |
E323G |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 100,250,332 |
N51S |
probably benign |
Het |
| Plppr5 |
T |
A |
3: 117,671,889 |
|
probably null |
Het |
| Prkcg |
A |
T |
7: 3,315,001 |
|
probably benign |
Het |
| Prkg2 |
C |
A |
5: 98,973,130 |
D411Y |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,086,329 |
V63A |
probably benign |
Het |
| Raf1 |
T |
A |
6: 115,623,515 |
D10V |
probably benign |
Het |
| Rrm2b |
A |
G |
15: 37,953,688 |
S39P |
possibly damaging |
Het |
| Scn5a |
A |
G |
9: 119,492,047 |
|
probably null |
Het |
| Spata24 |
A |
G |
18: 35,656,834 |
S167P |
probably damaging |
Het |
| Spock3 |
C |
T |
8: 63,144,007 |
T115I |
possibly damaging |
Het |
| Tnfaip3 |
C |
A |
10: 19,011,626 |
M50I |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 46,992,985 |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,437,058 |
|
probably benign |
Het |
| Xkr9 |
G |
A |
1: 13,684,062 |
W93* |
probably null |
Het |
|
| Other mutations in Cpsf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Cpsf1
|
APN |
15 |
76600216 |
missense |
probably benign |
0.27 |
|
IGL01013:Cpsf1
|
APN |
15 |
76599297 |
nonsense |
probably null |
|
|
IGL01599:Cpsf1
|
APN |
15 |
76596541 |
missense |
probably damaging |
1.00 |
|
IGL02008:Cpsf1
|
APN |
15 |
76603091 |
missense |
probably damaging |
1.00 |
|
IGL02291:Cpsf1
|
APN |
15 |
76602821 |
missense |
probably damaging |
1.00 |
|
IGL02901:Cpsf1
|
APN |
15 |
76599496 |
nonsense |
probably null |
|
|
IGL02929:Cpsf1
|
APN |
15 |
76602127 |
critical splice donor site |
probably null |
|
|
IGL03402:Cpsf1
|
APN |
15 |
76596003 |
splice site |
probably null |
|
|
R0005:Cpsf1
|
UTSW |
15 |
76600680 |
critical splice donor site |
probably null |
|
|
R0044:Cpsf1
|
UTSW |
15 |
76599553 |
missense |
probably benign |
|
|
R0487:Cpsf1
|
UTSW |
15 |
76597002 |
missense |
probably damaging |
1.00 |
|
R0510:Cpsf1
|
UTSW |
15 |
76603657 |
intron |
probably benign |
|
|
R0630:Cpsf1
|
UTSW |
15 |
76601971 |
missense |
probably damaging |
1.00 |
|
R0780:Cpsf1
|
UTSW |
15 |
76600377 |
missense |
probably benign |
0.17 |
|
R1617:Cpsf1
|
UTSW |
15 |
76602370 |
nonsense |
probably null |
|
|
R1717:Cpsf1
|
UTSW |
15 |
76602566 |
missense |
possibly damaging |
0.77 |
|
R1889:Cpsf1
|
UTSW |
15 |
76602156 |
missense |
probably benign |
0.06 |
|
R1994:Cpsf1
|
UTSW |
15 |
76603160 |
missense |
probably benign |
0.03 |
|
R2168:Cpsf1
|
UTSW |
15 |
76603737 |
missense |
possibly damaging |
0.69 |
|
R2359:Cpsf1
|
UTSW |
15 |
76597673 |
missense |
probably benign |
0.02 |
|
R2697:Cpsf1
|
UTSW |
15 |
76599329 |
missense |
probably damaging |
1.00 |
|
R2847:Cpsf1
|
UTSW |
15 |
76602851 |
missense |
probably damaging |
1.00 |
|
R2848:Cpsf1
|
UTSW |
15 |
76602851 |
missense |
probably damaging |
1.00 |
|
R3409:Cpsf1
|
UTSW |
15 |
76601781 |
nonsense |
probably null |
|
|
R3410:Cpsf1
|
UTSW |
15 |
76601781 |
nonsense |
probably null |
|
|
R3815:Cpsf1
|
UTSW |
15 |
76601149 |
missense |
probably benign |
0.22 |
|
R4030:Cpsf1
|
UTSW |
15 |
76601779 |
missense |
possibly damaging |
0.96 |
|
R4491:Cpsf1
|
UTSW |
15 |
76597722 |
missense |
possibly damaging |
0.85 |
|
R4615:Cpsf1
|
UTSW |
15 |
76596937 |
missense |
possibly damaging |
0.88 |
|
R5227:Cpsf1
|
UTSW |
15 |
76598948 |
missense |
probably damaging |
1.00 |
|
R5353:Cpsf1
|
UTSW |
15 |
76602571 |
missense |
probably damaging |
1.00 |
|
R5548:Cpsf1
|
UTSW |
15 |
76597327 |
missense |
possibly damaging |
0.95 |
|
R5552:Cpsf1
|
UTSW |
15 |
76599646 |
missense |
probably benign |
0.27 |
|
R5746:Cpsf1
|
UTSW |
15 |
76599837 |
missense |
probably benign |
0.01 |
|
R6319:Cpsf1
|
UTSW |
15 |
76596967 |
missense |
probably damaging |
1.00 |
|
R6360:Cpsf1
|
UTSW |
15 |
76597455 |
frame shift |
probably null |
|
|
R6572:Cpsf1
|
UTSW |
15 |
76597455 |
frame shift |
probably null |
|
|
R6574:Cpsf1
|
UTSW |
15 |
76597455 |
frame shift |
probably null |
|
|
R6576:Cpsf1
|
UTSW |
15 |
76597455 |
frame shift |
probably null |
|
|
R6577:Cpsf1
|
UTSW |
15 |
76597455 |
frame shift |
probably null |
|
|
R6588:Cpsf1
|
UTSW |
15 |
76596822 |
missense |
probably damaging |
1.00 |
|
R6595:Cpsf1
|
UTSW |
15 |
76602510 |
missense |
probably damaging |
1.00 |
|
R6621:Cpsf1
|
UTSW |
15 |
76603519 |
missense |
probably damaging |
1.00 |
|
R6880:Cpsf1
|
UTSW |
15 |
76602539 |
missense |
probably benign |
0.06 |
|
R6954:Cpsf1
|
UTSW |
15 |
76599496 |
missense |
probably damaging |
1.00 |
|
R7100:Cpsf1
|
UTSW |
15 |
76596114 |
missense |
possibly damaging |
0.73 |
|
R7255:Cpsf1
|
UTSW |
15 |
76597543 |
missense |
probably damaging |
1.00 |
|
R7318:Cpsf1
|
UTSW |
15 |
76597275 |
nonsense |
probably null |
|
|
R7371:Cpsf1
|
UTSW |
15 |
76600575 |
missense |
probably damaging |
1.00 |
|
R7387:Cpsf1
|
UTSW |
15 |
76602566 |
missense |
possibly damaging |
0.77 |
|
R7446:Cpsf1
|
UTSW |
15 |
76601750 |
missense |
probably benign |
|
|
R7612:Cpsf1
|
UTSW |
15 |
76597009 |
missense |
probably benign |
0.00 |
|
R7739:Cpsf1
|
UTSW |
15 |
76600311 |
missense |
probably benign |
0.00 |
|
R7878:Cpsf1
|
UTSW |
15 |
76600500 |
missense |
probably damaging |
1.00 |
|
R8334:Cpsf1
|
UTSW |
15 |
76603587 |
missense |
probably benign |
0.26 |
|
R8345:Cpsf1
|
UTSW |
15 |
76601490 |
missense |
probably benign |
|
|
R8382:Cpsf1
|
UTSW |
15 |
76600951 |
missense |
probably benign |
|
|
R8403:Cpsf1
|
UTSW |
15 |
76600283 |
missense |
probably damaging |
0.96 |
|
R8968:Cpsf1
|
UTSW |
15 |
76601969 |
nonsense |
probably null |
|
|
R8972:Cpsf1
|
UTSW |
15 |
76597328 |
missense |
probably damaging |
1.00 |
|
R9257:Cpsf1
|
UTSW |
15 |
76600792 |
missense |
probably benign |
|
|
R9627:Cpsf1
|
UTSW |
15 |
76599888 |
missense |
probably damaging |
0.97 |
|
R9776:Cpsf1
|
UTSW |
15 |
76602579 |
missense |
probably damaging |
1.00 |
|
X0052:Cpsf1
|
UTSW |
15 |
76596302 |
missense |
probably benign |
0.04 |
|
| Posted On |
2013-03-25 |
Incidental Mutation