Incidental Mutation 'IGL02861:Cpsf2'
| ID |
362167 |
| 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 # |
IGL02861
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
101942247-101972683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101965825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 597
(V597I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047357]
|
| AlphaFold |
O35218 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047357
AA Change: V597I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000047797
Gene: ENSMUSG00000041781
AA Change: V597I
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 61,001,146 (GRCm39) |
|
probably benign |
Het |
| 6430548M08Rik |
G |
A |
8: 120,876,863 (GRCm39) |
R157H |
probably damaging |
Het |
| Amer3 |
A |
G |
1: 34,627,206 (GRCm39) |
K482E |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,622,566 (GRCm39) |
S429T |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,569,157 (GRCm39) |
N125I |
probably damaging |
Het |
| BC106179 |
T |
A |
16: 23,042,746 (GRCm39) |
|
probably benign |
Het |
| Bclaf3 |
T |
C |
X: 158,338,524 (GRCm39) |
I457T |
possibly damaging |
Het |
| Cbr3 |
T |
G |
16: 93,482,007 (GRCm39) |
V121G |
probably damaging |
Het |
| Cd44 |
A |
G |
2: 102,662,826 (GRCm39) |
|
probably null |
Het |
| Cd72 |
G |
A |
4: 43,448,332 (GRCm39) |
A316V |
probably benign |
Het |
| Cdc27 |
A |
T |
11: 104,413,657 (GRCm39) |
|
probably benign |
Het |
| Cdon |
A |
T |
9: 35,398,253 (GRCm39) |
Q990L |
probably damaging |
Het |
| Clk2 |
T |
C |
3: 89,080,706 (GRCm39) |
W231R |
probably damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,042,918 (GRCm39) |
V874A |
probably benign |
Het |
| Daam2 |
A |
G |
17: 49,776,455 (GRCm39) |
F811L |
probably damaging |
Het |
| Ddx54 |
T |
C |
5: 120,756,195 (GRCm39) |
|
probably benign |
Het |
| Dysf |
T |
A |
6: 84,016,519 (GRCm39) |
L59Q |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,476,597 (GRCm39) |
Y601H |
probably damaging |
Het |
| Faf2 |
T |
C |
13: 54,796,235 (GRCm39) |
Y131H |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,445,067 (GRCm39) |
D101E |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,737,139 (GRCm39) |
T30A |
possibly damaging |
Het |
| Il27 |
A |
T |
7: 126,191,821 (GRCm39) |
L77Q |
probably damaging |
Het |
| Klhdc1 |
T |
A |
12: 69,298,225 (GRCm39) |
V83D |
possibly damaging |
Het |
| Manba |
T |
G |
3: 135,276,024 (GRCm39) |
S822A |
probably benign |
Het |
| Mterf2 |
A |
C |
10: 84,956,195 (GRCm39) |
V143G |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,981,195 (GRCm39) |
D895G |
probably benign |
Het |
| Or4c115 |
T |
A |
2: 88,927,801 (GRCm39) |
I157L |
probably benign |
Het |
| Or6n1 |
T |
A |
1: 173,916,602 (GRCm39) |
|
probably benign |
Het |
| Panx1 |
T |
C |
9: 14,919,101 (GRCm39) |
K253E |
probably benign |
Het |
| Phc1 |
T |
A |
6: 122,300,748 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,688,208 (GRCm39) |
E250G |
probably damaging |
Het |
| Rp1 |
G |
T |
1: 4,416,375 (GRCm39) |
S1579* |
probably null |
Het |
| Rrp1 |
A |
G |
10: 78,245,056 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,186 (GRCm39) |
L4187P |
possibly damaging |
Het |
| Serpinc1 |
A |
T |
1: 160,827,561 (GRCm39) |
I387F |
probably damaging |
Het |
| Slc2a7 |
G |
A |
4: 150,252,836 (GRCm39) |
C492Y |
probably benign |
Het |
| Slf1 |
A |
G |
13: 77,274,478 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,039,164 (GRCm39) |
L1169Q |
probably damaging |
Het |
| Stap1 |
T |
A |
5: 86,219,824 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
A |
G |
5: 138,182,147 (GRCm39) |
L66P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,632,841 (GRCm39) |
E14071G |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,947,125 (GRCm39) |
H586R |
possibly damaging |
Het |
| Zfpm2 |
A |
C |
15: 40,966,662 (GRCm39) |
K917T |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation