Incidental Mutation 'R5440:Cpsf2'
ID |
428600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf2
|
Ensembl Gene |
ENSMUSG00000041781 |
Gene Name |
cleavage and polyadenylation specific factor 2 |
Synonyms |
100kDa, Cpsf, 2610024B04Rik |
MMRRC Submission |
043005-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R5440 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
101942247-101972683 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 101963138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Valine
at position 401
(L401V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047357]
|
AlphaFold |
O35218 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047357
AA Change: L401V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000047797 Gene: ENSMUSG00000041781 AA Change: L401V
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apc |
G |
T |
18: 34,354,213 (GRCm39) |
|
probably benign |
Het |
Apol11b |
T |
A |
15: 77,519,793 (GRCm39) |
K96* |
probably null |
Het |
Arhgap35 |
C |
T |
7: 16,296,849 (GRCm39) |
G739S |
probably damaging |
Het |
Atp6v0a4 |
A |
C |
6: 38,069,752 (GRCm39) |
F47V |
probably damaging |
Het |
Bcl9 |
G |
A |
3: 97,117,881 (GRCm39) |
P271L |
probably benign |
Het |
Cd109 |
T |
C |
9: 78,587,446 (GRCm39) |
|
probably null |
Het |
Col12a1 |
T |
A |
9: 79,521,645 (GRCm39) |
I2771F |
probably benign |
Het |
Col6a1 |
A |
G |
10: 76,559,288 (GRCm39) |
V116A |
probably damaging |
Het |
Cwf19l2 |
G |
A |
9: 3,475,549 (GRCm39) |
E829K |
probably damaging |
Het |
D7Ertd443e |
G |
A |
7: 133,951,004 (GRCm39) |
T223I |
probably damaging |
Het |
Dtx4 |
G |
A |
19: 12,469,681 (GRCm39) |
R149C |
probably damaging |
Het |
Fam186b |
C |
T |
15: 99,171,734 (GRCm39) |
A838T |
possibly damaging |
Het |
Fzd4 |
G |
T |
7: 89,057,326 (GRCm39) |
E458* |
probably null |
Het |
Gm17669 |
C |
T |
18: 67,695,526 (GRCm39) |
P24S |
possibly damaging |
Het |
Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
Gucy2e |
T |
C |
11: 69,114,472 (GRCm39) |
Y1019C |
probably damaging |
Het |
Gzme |
T |
A |
14: 56,355,910 (GRCm39) |
N134I |
possibly damaging |
Het |
Havcr1 |
A |
T |
11: 46,643,197 (GRCm39) |
Y39F |
probably damaging |
Het |
Hint3 |
A |
T |
10: 30,494,347 (GRCm39) |
M1K |
probably null |
Het |
Hspa4l |
A |
G |
3: 40,736,008 (GRCm39) |
K543R |
probably damaging |
Het |
Ifna9 |
A |
G |
4: 88,510,048 (GRCm39) |
|
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Lipo2 |
A |
G |
19: 33,698,258 (GRCm39) |
I373T |
probably benign |
Het |
Myo5c |
T |
A |
9: 75,165,407 (GRCm39) |
I405N |
possibly damaging |
Het |
Or10a49 |
T |
C |
7: 108,467,833 (GRCm39) |
H176R |
probably damaging |
Het |
P2rx1 |
A |
G |
11: 72,899,329 (GRCm39) |
M108V |
probably benign |
Het |
Pcsk2 |
T |
A |
2: 143,388,463 (GRCm39) |
V18E |
probably benign |
Het |
Pigr |
A |
T |
1: 130,777,359 (GRCm39) |
|
probably null |
Het |
Pkp1 |
A |
T |
1: 135,810,230 (GRCm39) |
C447S |
probably benign |
Het |
Prom1 |
T |
A |
5: 44,215,988 (GRCm39) |
I96F |
probably benign |
Het |
Prpf4b |
T |
C |
13: 35,068,076 (GRCm39) |
|
probably benign |
Het |
Ropn1 |
C |
A |
16: 34,491,542 (GRCm39) |
D102E |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Sphk1 |
T |
G |
11: 116,425,714 (GRCm39) |
V17G |
possibly damaging |
Het |
Syngr1 |
A |
G |
15: 79,982,219 (GRCm39) |
N2S |
probably benign |
Het |
Syt9 |
T |
G |
7: 107,101,330 (GRCm39) |
S359A |
possibly damaging |
Het |
Terb1 |
T |
C |
8: 105,215,131 (GRCm39) |
I282V |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,739,600 (GRCm39) |
D3646E |
probably benign |
Het |
Ube2d1 |
A |
G |
10: 71,091,682 (GRCm39) |
W141R |
probably damaging |
Het |
Vmn2r41 |
T |
A |
7: 8,141,362 (GRCm39) |
I701F |
probably damaging |
Het |
Zfp770 |
T |
C |
2: 114,026,596 (GRCm39) |
D491G |
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 |
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 |
|
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'- ATGTTGTGTCATGGAAACCTGAC -3'
(R):5'- AGTTACTCTCCAACATTGACCC -3'
Sequencing Primer
(F):5'- CATGGAAACCTGACTAATTTCAGAG -3'
(R):5'- TTGACCCCAACCATATTAACAGTTG -3'
|
Posted On |
2016-09-01 |