Incidental Mutation 'IGL02039:Cpsf3'
| ID |
184649 |
| 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 # |
IGL02039
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
21336274-21365057 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21351457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 326
(M326T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067284]
[ENSMUST00000221145]
[ENSMUST00000222968]
|
| AlphaFold |
Q9QXK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067284
AA Change: M326T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068148
Gene: ENSMUSG00000054309
AA Change: M326T
| 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 |
probably benign
Transcript: ENSMUST00000221042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222883
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222968
AA Change: M326T
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| 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 |
|---|
| Abca13 |
T |
A |
11: 9,247,193 (GRCm39) |
Y2313* |
probably null |
Het |
| Arhgef12 |
A |
G |
9: 42,883,563 (GRCm39) |
I1323T |
probably benign |
Het |
| C87436 |
A |
G |
6: 86,430,677 (GRCm39) |
M366V |
probably benign |
Het |
| Cep290 |
T |
C |
10: 100,350,464 (GRCm39) |
|
probably null |
Het |
| Cpxm2 |
A |
G |
7: 131,649,482 (GRCm39) |
V64A |
probably damaging |
Het |
| Csnka2ip |
G |
A |
16: 64,298,957 (GRCm39) |
S25F |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,524,769 (GRCm39) |
F168L |
possibly damaging |
Het |
| Dhx8 |
T |
C |
11: 101,654,853 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
T |
A |
11: 69,390,038 (GRCm39) |
I736F |
probably damaging |
Het |
| Erf |
T |
C |
7: 24,943,969 (GRCm39) |
E454G |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,450,718 (GRCm39) |
V1482A |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,195,425 (GRCm39) |
L375P |
unknown |
Het |
| Foxm1 |
T |
C |
6: 128,346,323 (GRCm39) |
Y85H |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,600 (GRCm39) |
E631G |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,070,895 (GRCm39) |
D265G |
probably damaging |
Het |
| Gprc5c |
C |
T |
11: 114,755,312 (GRCm39) |
Q330* |
probably null |
Het |
| Grin1 |
C |
T |
2: 25,195,354 (GRCm39) |
V246M |
probably damaging |
Het |
| Ifitm3 |
C |
A |
7: 140,590,563 (GRCm39) |
|
probably benign |
Het |
| Igdcc3 |
G |
A |
9: 65,091,162 (GRCm39) |
V648I |
probably benign |
Het |
| Ighv5-2 |
A |
G |
12: 113,542,214 (GRCm39) |
I87T |
probably benign |
Het |
| Imp4 |
G |
A |
1: 34,482,849 (GRCm39) |
|
probably null |
Het |
| Ino80 |
T |
C |
2: 119,210,554 (GRCm39) |
N1327D |
probably damaging |
Het |
| Kif5a |
T |
C |
10: 127,069,736 (GRCm39) |
I830V |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,424,901 (GRCm39) |
Y4696C |
possibly damaging |
Het |
| Nrl |
T |
C |
14: 55,759,567 (GRCm39) |
E120G |
probably benign |
Het |
| Nsmaf |
T |
A |
4: 6,424,995 (GRCm39) |
|
probably benign |
Het |
| Nup35 |
T |
C |
2: 80,473,119 (GRCm39) |
M64T |
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,230,959 (GRCm39) |
N470I |
probably benign |
Het |
| Oga |
A |
T |
19: 45,762,142 (GRCm39) |
V237E |
probably damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,340 (GRCm39) |
I81N |
possibly damaging |
Het |
| Or9i1 |
C |
T |
19: 13,840,083 (GRCm39) |
Q309* |
probably null |
Het |
| Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,155,032 (GRCm39) |
T287A |
probably benign |
Het |
| Pkd2l2 |
G |
T |
18: 34,568,421 (GRCm39) |
|
probably null |
Het |
| Pola2 |
A |
T |
19: 5,998,497 (GRCm39) |
I355N |
probably damaging |
Het |
| Pp2d1 |
T |
A |
17: 53,823,022 (GRCm39) |
R15* |
probably null |
Het |
| Prpf40a |
T |
C |
2: 53,034,815 (GRCm39) |
D749G |
probably damaging |
Het |
| Rhoh |
T |
C |
5: 66,049,981 (GRCm39) |
S84P |
probably damaging |
Het |
| Slc12a7 |
T |
C |
13: 73,957,213 (GRCm39) |
|
probably null |
Het |
| Slc37a2 |
A |
G |
9: 37,144,980 (GRCm39) |
I454T |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,693,537 (GRCm39) |
D28G |
probably damaging |
Het |
| Socs4 |
T |
C |
14: 47,527,650 (GRCm39) |
I195T |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,123,980 (GRCm39) |
|
probably null |
Het |
| Thbd |
T |
C |
2: 148,248,462 (GRCm39) |
T469A |
probably benign |
Het |
| Thoc5 |
T |
C |
11: 4,872,027 (GRCm39) |
|
probably null |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
| Vmn1r59 |
T |
C |
7: 5,457,380 (GRCm39) |
S127G |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,610 (GRCm39) |
E408G |
probably damaging |
Het |
| Yars1 |
A |
T |
4: 129,109,052 (GRCm39) |
I428F |
probably damaging |
Het |
| Zglp1 |
T |
C |
9: 20,978,335 (GRCm39) |
E14G |
possibly damaging |
Het |
|
| Other mutations in Cpsf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation