Incidental Mutation 'IGL03335:Cpsf3'
| ID |
417021 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpsf3
|
| Ensembl Gene |
ENSMUSG00000054309 |
| Gene Name |
cleavage and polyadenylation specificity factor 3 |
| Synonyms |
73 kDa |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
IGL03335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
21336274-21365057 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 21356888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067284]
[ENSMUST00000222968]
|
| AlphaFold |
Q9QXK7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067284
|
| SMART Domains |
Protein: ENSMUSP00000068148
Gene: ENSMUSG00000054309
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
24 |
234 |
8.27e-12 |
SMART |
|
Beta-Casp
|
246 |
367 |
7.32e-45 |
SMART |
|
Pfam:RMMBL
|
380 |
422 |
9.9e-17 |
PFAM |
|
CPSF73-100_C
|
477 |
683 |
6.78e-81 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220940
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221992
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222968
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,985,258 (GRCm39) |
V713A |
probably benign |
Het |
| Abtb3 |
A |
T |
10: 85,494,222 (GRCm39) |
|
probably benign |
Het |
| Actr8 |
T |
C |
14: 29,700,514 (GRCm39) |
V31A |
probably benign |
Het |
| Alcam |
A |
C |
16: 52,111,366 (GRCm39) |
Y244* |
probably null |
Het |
| Ankrd24 |
A |
G |
10: 81,482,967 (GRCm39) |
S972G |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,115,319 (GRCm39) |
V768E |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,661 (GRCm39) |
I1212V |
probably benign |
Het |
| Catsper1 |
C |
T |
19: 5,386,339 (GRCm39) |
R191C |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,949,386 (GRCm39) |
V57D |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,365,140 (GRCm39) |
S1633P |
probably damaging |
Het |
| Dsg1c |
G |
A |
18: 20,416,754 (GRCm39) |
R885Q |
probably benign |
Het |
| Egfl6 |
C |
A |
X: 165,321,689 (GRCm39) |
G272W |
probably damaging |
Het |
| Ermard |
T |
C |
17: 15,279,668 (GRCm39) |
L486P |
probably damaging |
Het |
| F13b |
A |
T |
1: 139,450,124 (GRCm39) |
L595F |
probably damaging |
Het |
| Foxm1 |
A |
G |
6: 128,349,531 (GRCm39) |
N350S |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,881,803 (GRCm39) |
|
probably benign |
Het |
| Gpr152 |
C |
A |
19: 4,193,770 (GRCm39) |
T437N |
possibly damaging |
Het |
| Icmt |
T |
A |
4: 152,385,154 (GRCm39) |
Y205* |
probably null |
Het |
| Ints8 |
A |
T |
4: 11,216,460 (GRCm39) |
F844I |
probably damaging |
Het |
| Mep1a |
T |
A |
17: 43,788,064 (GRCm39) |
D664V |
possibly damaging |
Het |
| Muc4 |
T |
A |
16: 32,574,449 (GRCm39) |
N966K |
probably benign |
Het |
| Myo7b |
T |
A |
18: 32,118,073 (GRCm39) |
Q851L |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,850 (GRCm39) |
H2095R |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,639,366 (GRCm39) |
L4P |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pnpla8 |
T |
A |
12: 44,329,947 (GRCm39) |
N166K |
probably benign |
Het |
| Qrfprl |
T |
C |
6: 65,430,101 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
G |
3: 79,006,492 (GRCm39) |
M137T |
probably damaging |
Het |
| Rbm15b |
G |
A |
9: 106,761,538 (GRCm39) |
H877Y |
probably damaging |
Het |
| Rbm45 |
T |
C |
2: 76,206,777 (GRCm39) |
L263P |
probably damaging |
Het |
| Rprd1b |
T |
C |
2: 157,916,884 (GRCm39) |
V288A |
probably damaging |
Het |
| Tmtc3 |
C |
A |
10: 100,302,116 (GRCm39) |
V278L |
probably damaging |
Het |
| Tomm70a |
A |
G |
16: 56,970,289 (GRCm39) |
T556A |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 57,035,504 (GRCm39) |
E143G |
probably damaging |
Het |
| Trpm3 |
G |
T |
19: 22,903,435 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
T |
C |
5: 87,054,499 (GRCm39) |
E94G |
probably benign |
Het |
| Vmn1r174 |
T |
C |
7: 23,453,937 (GRCm39) |
V201A |
probably benign |
Het |
| Zfp352 |
T |
C |
4: 90,112,583 (GRCm39) |
F241S |
probably damaging |
Het |
|
| Other mutations in Cpsf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02039:Cpsf3
|
APN |
12 |
21,351,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02192:Cpsf3
|
APN |
12 |
21,360,197 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02192:Cpsf3
|
APN |
12 |
21,360,194 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02651:Cpsf3
|
APN |
12 |
21,343,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02963:Cpsf3
|
APN |
12 |
21,352,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03072:Cpsf3
|
APN |
12 |
21,345,089 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03307:Cpsf3
|
APN |
12 |
21,346,715 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0419:Cpsf3
|
UTSW |
12 |
21,347,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0441:Cpsf3
|
UTSW |
12 |
21,350,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Cpsf3
|
UTSW |
12 |
21,355,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Cpsf3
|
UTSW |
12 |
21,356,851 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1801:Cpsf3
|
UTSW |
12 |
21,363,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1860:Cpsf3
|
UTSW |
12 |
21,346,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3782:Cpsf3
|
UTSW |
12 |
21,350,067 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3953:Cpsf3
|
UTSW |
12 |
21,363,806 (GRCm39) |
missense |
probably benign |
|
|
R3954:Cpsf3
|
UTSW |
12 |
21,363,806 (GRCm39) |
missense |
probably benign |
|
|
R3955:Cpsf3
|
UTSW |
12 |
21,363,806 (GRCm39) |
missense |
probably benign |
|
|
R3957:Cpsf3
|
UTSW |
12 |
21,363,806 (GRCm39) |
missense |
probably benign |
|
|
R4922:Cpsf3
|
UTSW |
12 |
21,351,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Cpsf3
|
UTSW |
12 |
21,341,785 (GRCm39) |
missense |
probably benign |
|
|
R5363:Cpsf3
|
UTSW |
12 |
21,358,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5507:Cpsf3
|
UTSW |
12 |
21,347,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6090:Cpsf3
|
UTSW |
12 |
21,345,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6144:Cpsf3
|
UTSW |
12 |
21,356,887 (GRCm39) |
splice site |
probably null |
|
|
R6238:Cpsf3
|
UTSW |
12 |
21,350,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7229:Cpsf3
|
UTSW |
12 |
21,346,738 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7974:Cpsf3
|
UTSW |
12 |
21,358,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8175:Cpsf3
|
UTSW |
12 |
21,350,178 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8914:Cpsf3
|
UTSW |
12 |
21,345,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Cpsf3
|
UTSW |
12 |
21,358,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Cpsf3
|
UTSW |
12 |
21,356,844 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9301:Cpsf3
|
UTSW |
12 |
21,350,112 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9378:Cpsf3
|
UTSW |
12 |
21,358,039 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9476:Cpsf3
|
UTSW |
12 |
21,350,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Cpsf3
|
UTSW |
12 |
21,352,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation