Incidental Mutation 'R8357:Cpsf2'
ID |
645833 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf2
|
Ensembl Gene |
ENSMUSG00000041781 |
Gene Name |
cleavage and polyadenylation specific factor 2 |
Synonyms |
100kDa, Cpsf, 2610024B04Rik |
MMRRC Submission |
067807-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R8357 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
101942247-101972683 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 101968929 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 722
(S722T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047357]
|
AlphaFold |
O35218 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047357
AA Change: S722T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000047797 Gene: ENSMUSG00000041781 AA Change: S722T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
T |
A |
11: 46,030,939 (GRCm39) |
L813Q |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,743,066 (GRCm39) |
N961S |
probably damaging |
Het |
Arhgap42 |
A |
T |
9: 9,016,221 (GRCm39) |
S403T |
probably benign |
Het |
Cdkl1 |
T |
C |
12: 69,794,112 (GRCm39) |
T342A |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,096,985 (GRCm39) |
E1497G |
probably damaging |
Het |
Cldn11 |
T |
C |
3: 31,217,342 (GRCm39) |
V170A |
probably benign |
Het |
Cps1 |
T |
A |
1: 67,196,013 (GRCm39) |
F291I |
probably damaging |
Het |
Creld1 |
T |
C |
6: 113,468,699 (GRCm39) |
|
probably null |
Het |
Dgki |
T |
A |
6: 36,827,891 (GRCm39) |
E1002V |
possibly damaging |
Het |
Disp3 |
T |
A |
4: 148,345,572 (GRCm39) |
I423F |
possibly damaging |
Het |
Dysf |
T |
C |
6: 84,165,227 (GRCm39) |
V1601A |
probably benign |
Het |
E4f1 |
G |
A |
17: 24,665,501 (GRCm39) |
A347V |
probably benign |
Het |
Ehmt2 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
17: 35,124,137 (GRCm39) |
|
probably benign |
Het |
Epb41l1 |
G |
A |
2: 156,367,171 (GRCm39) |
R680Q |
probably benign |
Het |
Fcrl5 |
T |
G |
3: 87,351,567 (GRCm39) |
S272A |
probably damaging |
Het |
Gbp7 |
A |
T |
3: 142,252,133 (GRCm39) |
D572V |
probably benign |
Het |
Gm21903 |
A |
T |
17: 39,354,211 (GRCm39) |
F8I |
unknown |
Het |
Grin2b |
A |
G |
6: 135,709,197 (GRCm39) |
S1450P |
probably benign |
Het |
Icos |
C |
A |
1: 61,033,015 (GRCm39) |
S71R |
probably damaging |
Het |
Ighv1-13 |
T |
A |
12: 114,594,452 (GRCm39) |
N51K |
unknown |
Het |
Ighv1-37 |
C |
T |
12: 114,860,245 (GRCm39) |
|
probably benign |
Het |
Il36g |
A |
G |
2: 24,078,661 (GRCm39) |
Y87C |
probably benign |
Het |
Irf7 |
T |
C |
7: 140,843,194 (GRCm39) |
N440D |
possibly damaging |
Het |
Ivns1abp |
T |
A |
1: 151,229,761 (GRCm39) |
L150M |
probably damaging |
Het |
Kif16b |
A |
G |
2: 142,553,828 (GRCm39) |
I990T |
probably damaging |
Het |
Kif23 |
A |
G |
9: 61,834,317 (GRCm39) |
|
probably null |
Het |
Lca5l |
T |
G |
16: 95,960,908 (GRCm39) |
K523T |
possibly damaging |
Het |
Mast3 |
A |
G |
8: 71,233,085 (GRCm39) |
F1076L |
probably benign |
Het |
Nek11 |
A |
T |
9: 105,225,191 (GRCm39) |
I107N |
probably damaging |
Het |
Nlrp12 |
T |
C |
7: 3,289,435 (GRCm39) |
H359R |
probably damaging |
Het |
Nox3 |
A |
G |
17: 3,736,198 (GRCm39) |
S143P |
probably damaging |
Het |
Or10q12 |
A |
T |
19: 13,745,721 (GRCm39) |
N5I |
probably benign |
Het |
Or8g36 |
A |
C |
9: 39,422,442 (GRCm39) |
N191K |
probably benign |
Het |
Rnf10 |
C |
A |
5: 115,410,320 (GRCm39) |
K51N |
possibly damaging |
Het |
Scap |
G |
A |
9: 110,210,354 (GRCm39) |
G921D |
probably benign |
Het |
Tk2 |
A |
T |
8: 104,963,450 (GRCm39) |
S140T |
probably damaging |
Het |
Tmem106b |
A |
G |
6: 13,084,243 (GRCm39) |
Y249C |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,923,352 (GRCm39) |
S276R |
probably damaging |
Het |
Ugt1a7c |
T |
C |
1: 88,023,078 (GRCm39) |
V79A |
probably benign |
Het |
Zfp410 |
T |
C |
12: 84,374,086 (GRCm39) |
V141A |
possibly damaging |
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 |
R3082:Cpsf2
|
UTSW |
12 |
101,955,069 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- TCTTGATGATCTGTCAAAGGACTTG -3'
(R):5'- ATCAGCCTTTACAGCCAGCATC -3'
Sequencing Primer
(F):5'- GGACTTGAGAGACTAATAGAACGATC -3'
(R):5'- CTTTACAGCCAGCATCATGGATG -3'
|
Posted On |
2020-09-02 |