Incidental Mutation 'IGL02651:Cpsf3'
| ID |
302160 |
| 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 # |
IGL02651
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
21336274-21365057 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21343298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 121
(M121K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067284]
[ENSMUST00000221145]
[ENSMUST00000221507]
[ENSMUST00000222474]
[ENSMUST00000222968]
|
| AlphaFold |
Q9QXK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067284
AA Change: M95K
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000068148
Gene: ENSMUSG00000054309
AA Change: M95K
| 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: M45K
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221145
AA Change: M89K
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221507
AA Change: M121K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222474
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222968
AA Change: M95K
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
A |
19: 31,909,906 (GRCm39) |
G233S |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,283,990 (GRCm39) |
C1202S |
probably benign |
Het |
| Acaca |
C |
T |
11: 84,136,030 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,613,529 (GRCm39) |
F676Y |
probably damaging |
Het |
| Arhgef11 |
C |
A |
3: 87,606,171 (GRCm39) |
Q309K |
probably damaging |
Het |
| Asgr1 |
T |
C |
11: 69,947,956 (GRCm39) |
Y80H |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,152,909 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Atp8b2 |
A |
C |
3: 89,861,896 (GRCm39) |
|
probably null |
Het |
| Btnl2 |
A |
G |
17: 34,575,196 (GRCm39) |
M1V |
probably null |
Het |
| Creb3l3 |
A |
G |
10: 80,920,668 (GRCm39) |
I454T |
probably benign |
Het |
| Cyp2d12 |
A |
G |
15: 82,440,941 (GRCm39) |
E153G |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,350,768 (GRCm39) |
I2597V |
probably benign |
Het |
| Ercc5 |
C |
A |
1: 44,196,104 (GRCm39) |
S32R |
probably damaging |
Het |
| Fchsd2 |
T |
A |
7: 100,926,807 (GRCm39) |
N656K |
possibly damaging |
Het |
| Fga |
G |
A |
3: 82,935,841 (GRCm39) |
E23K |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,636,835 (GRCm39) |
T1925A |
possibly damaging |
Het |
| Fstl5 |
A |
T |
3: 76,500,841 (GRCm39) |
E423D |
probably damaging |
Het |
| Glg1 |
C |
T |
8: 111,887,359 (GRCm39) |
M465I |
possibly damaging |
Het |
| H2-M10.4 |
C |
A |
17: 36,771,548 (GRCm39) |
R210L |
probably benign |
Het |
| Hbb-y |
T |
G |
7: 103,501,957 (GRCm39) |
K105Q |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,284,756 (GRCm39) |
|
probably benign |
Het |
| Ipo11 |
T |
C |
13: 107,012,114 (GRCm39) |
Y556C |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,325,372 (GRCm39) |
M1322V |
probably damaging |
Het |
| Jhy |
A |
G |
9: 40,828,631 (GRCm39) |
L425P |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Ms4a6c |
A |
T |
19: 11,455,669 (GRCm39) |
E159D |
possibly damaging |
Het |
| Msh6 |
A |
T |
17: 88,296,943 (GRCm39) |
L1213F |
probably damaging |
Het |
| Npy1r |
A |
C |
8: 67,157,675 (GRCm39) |
R328S |
possibly damaging |
Het |
| Or4a74 |
A |
T |
2: 89,439,842 (GRCm39) |
N201K |
possibly damaging |
Het |
| Or5ak20 |
A |
C |
2: 85,183,394 (GRCm39) |
L292R |
probably damaging |
Het |
| Pcdhb18 |
T |
G |
18: 37,624,234 (GRCm39) |
Y521* |
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,347,210 (GRCm39) |
Y192F |
probably damaging |
Het |
| Rdh12 |
T |
A |
12: 79,268,826 (GRCm39) |
I301N |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,783,438 (GRCm39) |
V1144A |
possibly damaging |
Het |
| Sap25 |
T |
C |
5: 137,640,632 (GRCm39) |
F171L |
possibly damaging |
Het |
| Senp5 |
A |
G |
16: 31,808,897 (GRCm39) |
L92P |
probably benign |
Het |
| Sfmbt1 |
T |
C |
14: 30,537,494 (GRCm39) |
S736P |
probably damaging |
Het |
| Tacr1 |
T |
C |
6: 82,469,622 (GRCm39) |
S169P |
probably damaging |
Het |
| Tbc1d21 |
A |
T |
9: 58,270,384 (GRCm39) |
Y130* |
probably null |
Het |
| Tle2 |
G |
A |
10: 81,422,723 (GRCm39) |
G428D |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,992,442 (GRCm39) |
N367K |
probably damaging |
Het |
| Tmem210 |
A |
G |
2: 25,179,101 (GRCm39) |
T130A |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,680,368 (GRCm39) |
|
probably benign |
Het |
| Ttyh1 |
T |
C |
7: 4,127,678 (GRCm39) |
L122P |
probably damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,845,010 (GRCm39) |
F791S |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,891,129 (GRCm39) |
N575K |
probably benign |
Het |
| Vps8 |
T |
C |
16: 21,336,086 (GRCm39) |
V746A |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,044,341 (GRCm39) |
M1888K |
probably benign |
Het |
| Zfp595 |
T |
C |
13: 67,469,017 (GRCm39) |
D3G |
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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation