Incidental Mutation 'R3955:Cpsf3'
ID |
310661 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf3
|
Ensembl Gene |
ENSMUSG00000054309 |
Gene Name |
cleavage and polyadenylation specificity factor 3 |
Synonyms |
73 kDa |
MMRRC Submission |
040832-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R3955 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
21336274-21365057 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21363806 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 632
(D632G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067284]
[ENSMUST00000076813]
[ENSMUST00000221693]
[ENSMUST00000223345]
|
AlphaFold |
Q9QXK7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067284
AA Change: D632G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000068148 Gene: ENSMUSG00000054309 AA Change: D632G
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: ENSMUST00000076813
|
SMART Domains |
Protein: ENSMUSP00000076090 Gene: ENSMUSG00000062054
Domain | Start | End | E-Value | Type |
Pfam:Lipase_GDSL
|
18 |
213 |
1.3e-34 |
PFAM |
Pfam:Lipase_GDSL_2
|
19 |
209 |
2.8e-27 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220665
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220940
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221042
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221693
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222344
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223345
|
Meta Mutation Damage Score |
0.0971 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (56/56) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,773,834 (GRCm39) |
T1008A |
probably benign |
Het |
Abcc5 |
G |
C |
16: 20,224,293 (GRCm39) |
H97D |
probably damaging |
Het |
Acbd7 |
T |
C |
2: 3,337,250 (GRCm39) |
S2P |
probably benign |
Het |
Acta2 |
G |
T |
19: 34,229,126 (GRCm39) |
|
probably benign |
Het |
Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
Ajm1 |
G |
T |
2: 25,467,583 (GRCm39) |
S776* |
probably null |
Het |
Ccnq |
C |
A |
11: 78,641,849 (GRCm39) |
E214* |
probably null |
Het |
Cd69 |
A |
T |
6: 129,245,343 (GRCm39) |
|
probably null |
Het |
Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
Dscc1 |
T |
C |
15: 54,946,949 (GRCm39) |
T259A |
probably benign |
Het |
Dsg4 |
G |
A |
18: 20,582,432 (GRCm39) |
|
probably null |
Het |
Igfn1 |
A |
G |
1: 135,894,918 (GRCm39) |
Y1883H |
possibly damaging |
Het |
Insyn1 |
A |
T |
9: 58,406,906 (GRCm39) |
D272V |
probably damaging |
Het |
Krt20 |
G |
A |
11: 99,323,037 (GRCm39) |
Q262* |
probably null |
Het |
Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
Lmod2 |
G |
T |
6: 24,603,870 (GRCm39) |
V282L |
probably benign |
Het |
Lrrc49 |
A |
G |
9: 60,578,642 (GRCm39) |
I228T |
probably damaging |
Het |
Matn1 |
G |
A |
4: 130,678,726 (GRCm39) |
|
probably null |
Het |
Nek7 |
C |
A |
1: 138,462,127 (GRCm39) |
C79F |
probably damaging |
Het |
Nmt2 |
A |
G |
2: 3,313,535 (GRCm39) |
D132G |
probably benign |
Het |
Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
Obscn |
G |
A |
11: 58,927,594 (GRCm39) |
S6118F |
probably damaging |
Het |
Or14j6 |
A |
T |
17: 38,214,500 (GRCm39) |
H21L |
probably benign |
Het |
Or1j21 |
T |
A |
2: 36,683,565 (GRCm39) |
L106M |
probably benign |
Het |
Or4c12 |
T |
A |
2: 89,774,172 (GRCm39) |
M96L |
possibly damaging |
Het |
Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
Or5al1 |
A |
G |
2: 85,990,282 (GRCm39) |
V144A |
probably benign |
Het |
Plxnb3 |
T |
C |
X: 72,814,826 (GRCm39) |
V1789A |
probably benign |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Qrfprl |
A |
T |
6: 65,430,092 (GRCm39) |
I263L |
possibly damaging |
Het |
Rab3gap1 |
A |
G |
1: 127,862,254 (GRCm39) |
Q675R |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
Sergef |
T |
A |
7: 46,268,176 (GRCm39) |
E210V |
possibly damaging |
Het |
Sik3 |
C |
A |
9: 46,109,891 (GRCm39) |
N541K |
probably damaging |
Het |
Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
Tbc1d14 |
G |
A |
5: 36,700,559 (GRCm39) |
R270* |
probably null |
Het |
Tbc1d9 |
C |
T |
8: 83,960,161 (GRCm39) |
T138I |
probably damaging |
Het |
Tdp2 |
C |
T |
13: 25,020,082 (GRCm39) |
T123I |
probably benign |
Het |
Tec |
T |
C |
5: 72,939,520 (GRCm39) |
|
probably null |
Het |
Tmf1 |
C |
A |
6: 97,153,167 (GRCm39) |
R302L |
probably damaging |
Het |
Tnip3 |
A |
T |
6: 65,574,379 (GRCm39) |
T137S |
possibly damaging |
Het |
Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,799,593 (GRCm39) |
V429A |
possibly damaging |
Het |
Unc13b |
A |
G |
4: 43,256,834 (GRCm39) |
Y3962C |
probably damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,660,358 (GRCm39) |
Y257N |
possibly damaging |
Het |
Zfp677 |
A |
G |
17: 21,618,079 (GRCm39) |
K379E |
possibly damaging |
Het |
Zfp865 |
T |
A |
7: 5,035,013 (GRCm39) |
D999E |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCAGTACAGCACTCTCGTG -3'
(R):5'- AAGGCTTCGTTCCACTAAGGC -3'
Sequencing Primer
(F):5'- TACAGCACTCTCGTGGGTCG -3'
(R):5'- TCGTTCCACTAAGGCACTCAC -3'
|
Posted On |
2015-04-29 |