Incidental Mutation 'IGL03072:Cpsf3'
| ID |
417543 |
| 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 # |
IGL03072
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
21336274-21365057 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21345089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 134
(K134E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067284]
[ENSMUST00000221145]
[ENSMUST00000221507]
[ENSMUST00000222474]
[ENSMUST00000222968]
|
| AlphaFold |
Q9QXK7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067284
AA Change: K134E
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000068148
Gene: ENSMUSG00000054309
AA Change: K134E
| 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 |
unknown
Transcript: ENSMUST00000221042
AA Change: K84E
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221145
AA Change: K128E
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221507
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222968
AA Change: K134E
PolyPhen 2
Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
G |
A |
13: 77,408,116 (GRCm39) |
V148I |
probably benign |
Het |
| Ahcyl2 |
T |
C |
6: 29,906,500 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,983,872 (GRCm39) |
S1719P |
probably benign |
Het |
| C2cd5 |
A |
G |
6: 143,025,609 (GRCm39) |
I196T |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,874,474 (GRCm39) |
I849V |
probably benign |
Het |
| Dnai1 |
A |
G |
4: 41,602,979 (GRCm39) |
T161A |
probably benign |
Het |
| Gm17093 |
G |
T |
14: 44,758,129 (GRCm39) |
|
probably benign |
Het |
| Igf2bp2 |
A |
G |
16: 21,886,891 (GRCm39) |
|
probably null |
Het |
| Lcor |
T |
C |
19: 41,547,253 (GRCm39) |
V279A |
possibly damaging |
Het |
| Myo9a |
C |
A |
9: 59,716,725 (GRCm39) |
T475K |
possibly damaging |
Het |
| Nat8f4 |
A |
G |
6: 85,877,836 (GRCm39) |
|
probably benign |
Het |
| Neto1 |
A |
G |
18: 86,516,714 (GRCm39) |
T344A |
probably benign |
Het |
| Or6c203 |
A |
T |
10: 129,010,358 (GRCm39) |
D177E |
probably damaging |
Het |
| Or7c19 |
A |
G |
8: 85,957,139 (GRCm39) |
N5S |
probably benign |
Het |
| Or8k17 |
A |
T |
2: 86,066,804 (GRCm39) |
M118K |
probably damaging |
Het |
| Pde8a |
A |
T |
7: 80,958,557 (GRCm39) |
I312F |
probably damaging |
Het |
| Ppp3cb |
A |
G |
14: 20,581,793 (GRCm39) |
I74T |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,216,004 (GRCm39) |
|
probably benign |
Het |
| Psg29 |
T |
C |
7: 16,942,719 (GRCm39) |
V240A |
probably benign |
Het |
| Reep4 |
T |
C |
14: 70,785,675 (GRCm39) |
S238P |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tmprss5 |
T |
A |
9: 49,020,318 (GRCm39) |
N99K |
possibly damaging |
Het |
| Tph1 |
G |
A |
7: 46,302,283 (GRCm39) |
T313M |
probably damaging |
Het |
| Tprn |
T |
C |
2: 25,154,530 (GRCm39) |
S611P |
probably damaging |
Het |
| Upp2 |
G |
T |
2: 58,645,435 (GRCm39) |
|
probably null |
Het |
| Vezt |
C |
A |
10: 93,809,895 (GRCm39) |
A549S |
probably damaging |
Het |
| Zfp786 |
A |
G |
6: 47,798,177 (GRCm39) |
Y254H |
probably benign |
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 |
|
IGL03307:Cpsf3
|
APN |
12 |
21,346,715 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03335:Cpsf3
|
APN |
12 |
21,356,888 (GRCm39) |
splice site |
probably null |
|
|
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