Incidental Mutation 'IGL01377:Cpsf2'
ID |
78782 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cpsf2
|
Ensembl Gene |
ENSMUSG00000041781 |
Gene Name |
cleavage and polyadenylation specific factor 2 |
Synonyms |
100kDa, Cpsf, 2610024B04Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
IGL01377
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
101942247-101972683 bp(+) (GRCm39) |
Type of Mutation |
splice site (8 bp from exon) |
DNA Base Change (assembly) |
T to A
at 101953640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047357]
|
AlphaFold |
O35218 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047357
|
SMART Domains |
Protein: ENSMUSP00000047797 Gene: ENSMUSG00000041781
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
T |
17: 48,460,108 (GRCm39) |
V196D |
probably damaging |
Het |
Ago1 |
C |
T |
4: 126,353,610 (GRCm39) |
V279M |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,027,601 (GRCm39) |
|
probably null |
Het |
Ccdc170 |
A |
G |
10: 4,510,966 (GRCm39) |
D675G |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,892,708 (GRCm39) |
Y291N |
probably damaging |
Het |
Cdca5 |
T |
C |
19: 6,140,312 (GRCm39) |
S158P |
probably damaging |
Het |
Cdh8 |
A |
G |
8: 99,760,021 (GRCm39) |
I576T |
probably damaging |
Het |
Cyc1 |
C |
T |
15: 76,229,162 (GRCm39) |
R143* |
probably null |
Het |
Dcaf6 |
A |
T |
1: 165,216,293 (GRCm39) |
S437T |
probably benign |
Het |
Eif5b |
A |
G |
1: 38,075,179 (GRCm39) |
D552G |
probably benign |
Het |
Epor |
T |
C |
9: 21,870,593 (GRCm39) |
D429G |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,531,181 (GRCm39) |
I560V |
possibly damaging |
Het |
Fbxw21 |
T |
A |
9: 108,975,713 (GRCm39) |
R228* |
probably null |
Het |
Fyb1 |
T |
C |
15: 6,609,801 (GRCm39) |
S125P |
probably benign |
Het |
Gfm1 |
A |
T |
3: 67,382,086 (GRCm39) |
Y720F |
probably damaging |
Het |
Hspbap1 |
T |
A |
16: 35,645,681 (GRCm39) |
D455E |
possibly damaging |
Het |
Katnal2 |
T |
C |
18: 77,090,153 (GRCm39) |
R285G |
probably damaging |
Het |
Kif12 |
G |
A |
4: 63,088,962 (GRCm39) |
T153I |
probably damaging |
Het |
Klhl31 |
T |
C |
9: 77,558,013 (GRCm39) |
F243S |
probably benign |
Het |
Large2 |
A |
G |
2: 92,199,676 (GRCm39) |
Y208H |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,491,550 (GRCm39) |
V239A |
probably damaging |
Het |
Mblac2 |
G |
A |
13: 81,898,266 (GRCm39) |
R214H |
probably damaging |
Het |
Mlf2 |
A |
G |
6: 124,911,654 (GRCm39) |
N168D |
probably damaging |
Het |
Mtmr6 |
T |
A |
14: 60,519,483 (GRCm39) |
Y134* |
probably null |
Het |
Mtus1 |
T |
C |
8: 41,536,172 (GRCm39) |
K515E |
possibly damaging |
Het |
Nek1 |
A |
G |
8: 61,542,490 (GRCm39) |
T718A |
probably benign |
Het |
Nfx1 |
A |
G |
4: 40,977,241 (GRCm39) |
N305S |
probably benign |
Het |
Nrxn3 |
T |
A |
12: 89,499,782 (GRCm39) |
|
probably null |
Het |
Nsf |
T |
C |
11: 103,763,473 (GRCm39) |
D377G |
probably damaging |
Het |
Pde4b |
A |
G |
4: 102,344,599 (GRCm39) |
E102G |
probably damaging |
Het |
Pdlim4 |
G |
T |
11: 53,947,130 (GRCm39) |
S56R |
probably benign |
Het |
Poc5 |
T |
C |
13: 96,538,139 (GRCm39) |
V268A |
probably benign |
Het |
Sec23b |
A |
C |
2: 144,401,157 (GRCm39) |
E6A |
probably damaging |
Het |
Sgsm1 |
A |
T |
5: 113,424,048 (GRCm39) |
|
probably benign |
Het |
Slc16a12 |
T |
A |
19: 34,650,084 (GRCm39) |
N317I |
possibly damaging |
Het |
Slc1a7 |
A |
T |
4: 107,850,162 (GRCm39) |
D91V |
probably damaging |
Het |
Slc30a9 |
T |
G |
5: 67,473,173 (GRCm39) |
S86A |
probably benign |
Het |
Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
Tacr1 |
T |
C |
6: 82,380,636 (GRCm39) |
S16P |
probably benign |
Het |
Tmtc1 |
A |
C |
6: 148,147,285 (GRCm39) |
V804G |
possibly damaging |
Het |
Ttc7b |
A |
G |
12: 100,321,371 (GRCm39) |
F587L |
probably benign |
Het |
Vmn2r86 |
A |
T |
10: 130,288,855 (GRCm39) |
D215E |
probably 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 |
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 |
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 |
|
Posted On |
2013-11-05 |