Incidental Mutation 'R0005:Cpsf1'
| ID | 63941 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Cpsf1
|
|---|
| Ensembl Gene |
ENSMUSG00000034022 |
|---|
| Gene Name | cleavage and polyadenylation specific factor 1 |
|---|
| Synonyms | |
|---|
| MMRRC Submission |
038301-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably essential (E-score: 0.970)
|
|---|
| Stock # | R0005 (G1)
|
|---|
| Quality Score | 147 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 15 |
|---|
| Chromosomal Location | 76595803-76607591 bp(-) (GRCm38) |
|---|
| Type of Mutation | critical splice donor site (2 bp from exon) |
|---|
| DNA Base Change (assembly) |
A to G
at 76600680 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155308
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000160784]
[ENSMUST00000161732]
[ENSMUST00000162503]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000071898
|
|---|
| SMART Domains |
Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
| 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: ENSMUST00000160094
|
|---|
| 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: 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000229269
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229287
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229367
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229437
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229447
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229504
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229797
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230157
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230557
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230822
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231009
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231191
|
|---|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
|---|
| Validation Efficiency |
98% (63/64) |
|---|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
A |
G |
7: 126,498,274 |
F201L |
probably damaging |
Het |
| BC037034 |
T |
C |
5: 138,262,654 |
|
probably null |
Het |
| Camsap3 |
T |
A |
8: 3,604,288 |
F653I |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,062,879 |
|
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,225,400 |
T442A |
probably benign |
Het |
| Enpp4 |
T |
C |
17: 44,102,175 |
N156S |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,962,866 |
N3485I |
probably damaging |
Het |
| Gabra2 |
C |
T |
5: 70,973,436 |
V350I |
probably benign |
Het |
| Gm8909 |
G |
T |
17: 36,162,192 |
|
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,128,749 |
T364A |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,181,927 |
V402E |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,922,428 |
D959G |
probably benign |
Het |
| Mag |
T |
A |
7: 30,908,354 |
|
probably benign |
Het |
| Map3k1 |
A |
G |
13: 111,755,704 |
F1006L |
probably benign |
Het |
| Mapre2 |
G |
A |
18: 23,853,693 |
G54D |
probably damaging |
Het |
| Muc6 |
G |
T |
7: 141,638,772 |
T1996N |
possibly damaging |
Het |
| Myadm |
C |
T |
7: 3,297,564 |
Q281* |
probably null |
Het |
| Mylk3 |
A |
T |
8: 85,327,203 |
V625D |
possibly damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,573,788 |
|
probably benign |
Het |
| Olfr974 |
A |
G |
9: 39,942,956 |
D232G |
probably benign |
Het |
| Plcz1 |
T |
A |
6: 140,040,564 |
|
probably benign |
Het |
| Plekhg5 |
TCCCCC |
TCC |
4: 152,112,651 |
|
probably benign |
Het |
| Plekhh2 |
A |
C |
17: 84,586,433 |
D892A |
probably benign |
Het |
| Ppih |
A |
G |
4: 119,318,601 |
|
probably benign |
Het |
| Pramef12 |
G |
T |
4: 144,395,853 |
F40L |
probably damaging |
Het |
| Rtn4ip1 |
A |
T |
10: 43,932,478 |
M84L |
probably benign |
Het |
| Slc35f4 |
G |
A |
14: 49,322,486 |
|
probably benign |
Het |
| Spocd1 |
G |
T |
4: 129,956,778 |
D866Y |
possibly damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,548,917 |
R365Q |
possibly damaging |
Het |
| Tmed4 |
C |
T |
11: 6,271,781 |
R185H |
probably damaging |
Het |
| Tmem2 |
A |
G |
19: 21,812,220 |
T595A |
probably damaging |
Het |
| Tnfsf9 |
T |
C |
17: 57,107,236 |
V221A |
possibly damaging |
Het |
| Vsx2 |
C |
A |
12: 84,570,241 |
P100Q |
possibly damaging |
Het |
| Wdr48 |
T |
A |
9: 119,909,434 |
D53E |
probably benign |
Het |
| Zfp335 |
T |
A |
2: 164,909,302 |
S115C |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 54,895,520 |
P1274S |
possibly damaging |
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 |
|
|
R0044:Cpsf1
|
UTSW |
15 |
76599553 |
missense |
probably benign |
|
|
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 |
|
X0052:Cpsf1
|
UTSW |
15 |
76596302 |
missense |
probably benign |
0.04 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- TCCCCAATGTTTCCAGCAAAGACAG -3'
(R):5'- AGGTGGTGACAACCTTTGAACTTCC -3'
Sequencing Primer
(F):5'- TTTCCAGCAAAGACAGTAGGAC -3'
(R):5'- ATATGTGGACAGTCATTGCTCC -3'
|
|---|
| Posted On | 2013-07-30 |
|---|
