Incidental Mutation 'R3082:Cpsf2'
ID |
265500 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf2
|
Ensembl Gene |
ENSMUSG00000041781 |
Gene Name |
cleavage and polyadenylation specific factor 2 |
Synonyms |
100kDa, Cpsf, 2610024B04Rik |
MMRRC Submission |
040572-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R3082 (G1)
|
Quality Score |
103 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
101942247-101972683 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 101955069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 280
(S280C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047357]
|
AlphaFold |
O35218 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047357
AA Change: S280C
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000047797 Gene: ENSMUSG00000041781 AA Change: S280C
Domain | Start | End | E-Value | Type |
Lactamase_B
|
17 |
223 |
5.22e-1 |
SMART |
Beta-Casp
|
243 |
368 |
1.8e-21 |
SMART |
coiled coil region
|
380 |
418 |
N/A |
INTRINSIC |
Pfam:RMMBL
|
527 |
569 |
1.2e-14 |
PFAM |
Pfam:CPSF100_C
|
608 |
779 |
5.7e-46 |
PFAM |
|
Meta Mutation Damage Score |
0.5736 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
A |
G |
10: 106,859,576 (GRCm39) |
V341A |
possibly damaging |
Het |
Adam11 |
T |
C |
11: 102,660,943 (GRCm39) |
|
probably benign |
Het |
Aox1 |
G |
T |
1: 58,322,759 (GRCm39) |
|
probably benign |
Het |
Cdh6 |
T |
C |
15: 13,044,838 (GRCm39) |
D428G |
probably damaging |
Het |
Cep63 |
T |
C |
9: 102,479,696 (GRCm39) |
T339A |
probably benign |
Het |
Clcn1 |
T |
C |
6: 42,267,112 (GRCm39) |
Y66H |
probably damaging |
Het |
Dcaf6 |
G |
T |
1: 165,250,421 (GRCm39) |
|
probably benign |
Het |
Ddx39a |
T |
A |
8: 84,449,335 (GRCm39) |
N344K |
possibly damaging |
Het |
Dvl1 |
T |
C |
4: 155,932,316 (GRCm39) |
V42A |
possibly damaging |
Het |
Ep400 |
A |
G |
5: 110,841,096 (GRCm39) |
|
probably benign |
Het |
Epb41l5 |
C |
T |
1: 119,536,992 (GRCm39) |
V300I |
probably damaging |
Het |
Fbln1 |
T |
G |
15: 85,149,454 (GRCm39) |
I617S |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Grin3a |
G |
A |
4: 49,665,243 (GRCm39) |
R1131W |
probably benign |
Het |
Incenp |
T |
A |
19: 9,861,143 (GRCm39) |
M480L |
unknown |
Het |
Ints13 |
G |
T |
6: 146,476,205 (GRCm39) |
Q99K |
possibly damaging |
Het |
L2hgdh |
C |
T |
12: 69,768,858 (GRCm39) |
D85N |
probably benign |
Het |
Lct |
A |
G |
1: 128,215,345 (GRCm39) |
Y1744H |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,255,236 (GRCm39) |
|
probably null |
Het |
Mpdz |
A |
T |
4: 81,203,695 (GRCm39) |
|
probably benign |
Het |
Naa15 |
T |
C |
3: 51,367,471 (GRCm39) |
L498P |
probably damaging |
Het |
Naip6 |
T |
A |
13: 100,452,925 (GRCm39) |
E45D |
probably benign |
Het |
Nedd4l |
T |
A |
18: 65,312,049 (GRCm39) |
N405K |
probably benign |
Het |
Or4l15 |
A |
G |
14: 50,198,161 (GRCm39) |
Y123H |
probably damaging |
Het |
Or8u10 |
C |
T |
2: 85,916,053 (GRCm39) |
V23I |
probably benign |
Het |
Pitpnc1 |
A |
G |
11: 107,103,350 (GRCm39) |
S250P |
possibly damaging |
Het |
Ppp1r18 |
A |
G |
17: 36,184,742 (GRCm39) |
D131G |
probably damaging |
Het |
Prdm5 |
A |
G |
6: 65,913,069 (GRCm39) |
D206G |
probably damaging |
Het |
Pygl |
A |
G |
12: 70,244,303 (GRCm39) |
F455S |
probably damaging |
Het |
Rictor |
A |
T |
15: 6,804,338 (GRCm39) |
Y565F |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,745,071 (GRCm39) |
N3852D |
probably damaging |
Het |
S1pr5 |
A |
T |
9: 21,156,286 (GRCm39) |
C47S |
probably damaging |
Het |
Serpinf2 |
T |
C |
11: 75,328,354 (GRCm39) |
R65G |
probably benign |
Het |
Slfn14 |
C |
T |
11: 83,167,519 (GRCm39) |
W665* |
probably null |
Het |
Smu1 |
T |
C |
4: 40,745,567 (GRCm39) |
D251G |
probably damaging |
Het |
Spata18 |
A |
G |
5: 73,836,423 (GRCm39) |
|
probably benign |
Het |
Tex19.2 |
A |
G |
11: 121,007,557 (GRCm39) |
V297A |
probably benign |
Het |
Tmem131l |
A |
G |
3: 83,816,457 (GRCm39) |
|
probably null |
Het |
Trim9 |
T |
C |
12: 70,301,887 (GRCm39) |
R584G |
possibly damaging |
Het |
Trpm7 |
A |
T |
2: 126,686,342 (GRCm39) |
N295K |
possibly damaging |
Het |
Ugt2a3 |
A |
G |
5: 87,473,534 (GRCm39) |
V461A |
probably benign |
Het |
Vmn1r45 |
A |
T |
6: 89,910,724 (GRCm39) |
M82K |
probably benign |
Het |
|
Other mutations in Cpsf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00737:Cpsf2
|
APN |
12 |
101,949,725 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01114:Cpsf2
|
APN |
12 |
101,956,098 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01121:Cpsf2
|
APN |
12 |
101,954,965 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01377:Cpsf2
|
APN |
12 |
101,953,640 (GRCm39) |
splice site |
probably null |
|
IGL01465:Cpsf2
|
APN |
12 |
101,963,592 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02861:Cpsf2
|
APN |
12 |
101,965,825 (GRCm39) |
missense |
probably benign |
0.00 |
R0469:Cpsf2
|
UTSW |
12 |
101,955,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R0504:Cpsf2
|
UTSW |
12 |
101,956,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R0510:Cpsf2
|
UTSW |
12 |
101,955,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R0626:Cpsf2
|
UTSW |
12 |
101,951,490 (GRCm39) |
missense |
probably benign |
0.09 |
R0697:Cpsf2
|
UTSW |
12 |
101,949,443 (GRCm39) |
missense |
probably benign |
0.34 |
R0837:Cpsf2
|
UTSW |
12 |
101,963,501 (GRCm39) |
splice site |
probably benign |
|
R1475:Cpsf2
|
UTSW |
12 |
101,951,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R1709:Cpsf2
|
UTSW |
12 |
101,965,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R1974:Cpsf2
|
UTSW |
12 |
101,956,306 (GRCm39) |
missense |
probably benign |
0.33 |
R1996:Cpsf2
|
UTSW |
12 |
101,964,867 (GRCm39) |
missense |
probably benign |
0.18 |
R2063:Cpsf2
|
UTSW |
12 |
101,949,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R2164:Cpsf2
|
UTSW |
12 |
101,951,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R2228:Cpsf2
|
UTSW |
12 |
101,956,088 (GRCm39) |
missense |
probably benign |
0.00 |
R3732:Cpsf2
|
UTSW |
12 |
101,953,567 (GRCm39) |
missense |
probably damaging |
0.99 |
R3732:Cpsf2
|
UTSW |
12 |
101,953,567 (GRCm39) |
missense |
probably damaging |
0.99 |
R3733:Cpsf2
|
UTSW |
12 |
101,953,567 (GRCm39) |
missense |
probably damaging |
0.99 |
R4627:Cpsf2
|
UTSW |
12 |
101,956,154 (GRCm39) |
missense |
probably benign |
0.18 |
R4665:Cpsf2
|
UTSW |
12 |
101,949,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R4666:Cpsf2
|
UTSW |
12 |
101,949,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R4765:Cpsf2
|
UTSW |
12 |
101,963,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R4777:Cpsf2
|
UTSW |
12 |
101,963,091 (GRCm39) |
missense |
probably damaging |
0.99 |
R4847:Cpsf2
|
UTSW |
12 |
101,963,561 (GRCm39) |
missense |
probably benign |
0.18 |
R4923:Cpsf2
|
UTSW |
12 |
101,948,243 (GRCm39) |
missense |
probably benign |
|
R4975:Cpsf2
|
UTSW |
12 |
101,949,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R5239:Cpsf2
|
UTSW |
12 |
101,953,532 (GRCm39) |
nonsense |
probably null |
|
R5440:Cpsf2
|
UTSW |
12 |
101,963,138 (GRCm39) |
missense |
probably benign |
|
R5601:Cpsf2
|
UTSW |
12 |
101,951,614 (GRCm39) |
splice site |
probably null |
|
R5603:Cpsf2
|
UTSW |
12 |
101,964,890 (GRCm39) |
missense |
probably benign |
0.02 |
R5841:Cpsf2
|
UTSW |
12 |
101,951,497 (GRCm39) |
missense |
probably damaging |
0.99 |
R6153:Cpsf2
|
UTSW |
12 |
101,965,619 (GRCm39) |
splice site |
probably null |
|
R6663:Cpsf2
|
UTSW |
12 |
101,965,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R7451:Cpsf2
|
UTSW |
12 |
101,967,051 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8357:Cpsf2
|
UTSW |
12 |
101,968,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R8457:Cpsf2
|
UTSW |
12 |
101,968,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R9123:Cpsf2
|
UTSW |
12 |
101,963,555 (GRCm39) |
missense |
probably damaging |
0.96 |
R9433:Cpsf2
|
UTSW |
12 |
101,948,252 (GRCm39) |
missense |
probably damaging |
1.00 |
V8831:Cpsf2
|
UTSW |
12 |
101,969,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTCCTGGAAACGCTTCGG -3'
(R):5'- AGGGAAGAGCTCATTTCAAGAA -3'
Sequencing Primer
(F):5'- TTCGGGGCGACGGGAAC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
|
Posted On |
2015-02-05 |