Incidental Mutation 'R0837:Cpsf2'
| ID |
78008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf2
|
| Ensembl Gene |
ENSMUSG00000041781 |
| Gene Name |
cleavage and polyadenylation specific factor 2 |
| Synonyms |
100kDa, 2610024B04Rik, Cpsf |
| MMRRC Submission |
039016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R0837 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
101975988-102006424 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 101997242 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047357]
|
| AlphaFold |
O35218 |
| Predicted Effect |
probably benign
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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
96% (44/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
T |
C |
14: 60,095,926 (GRCm38) |
|
probably benign |
Het |
| 4930579C12Rik |
A |
G |
9: 89,168,207 (GRCm38) |
|
noncoding transcript |
Het |
| Adam34 |
T |
A |
8: 43,651,500 (GRCm38) |
K369N |
probably benign |
Het |
| Ap1g1 |
T |
C |
8: 109,851,065 (GRCm38) |
W481R |
probably damaging |
Het |
| Bicdl1 |
G |
A |
5: 115,731,292 (GRCm38) |
P26S |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,630,270 (GRCm38) |
C1224* |
probably null |
Het |
| Cyp11b2 |
G |
A |
15: 74,853,641 (GRCm38) |
R210W |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,989,258 (GRCm38) |
V1048I |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,077,979 (GRCm38) |
A2908S |
probably benign |
Het |
| Elane |
A |
G |
10: 79,887,108 (GRCm38) |
D116G |
probably damaging |
Het |
| Epb41l2 |
C |
T |
10: 25,507,816 (GRCm38) |
R153C |
probably damaging |
Het |
| Gucy2c |
G |
A |
6: 136,722,420 (GRCm38) |
P617L |
probably damaging |
Het |
| Hist2h2ab |
G |
A |
3: 96,220,123 (GRCm38) |
A70T |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,746,861 (GRCm38) |
I106L |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,096,829 (GRCm38) |
N931D |
possibly damaging |
Het |
| Mthfs |
A |
G |
9: 89,215,390 (GRCm38) |
E100G |
probably damaging |
Het |
| Mto1 |
A |
T |
9: 78,473,790 (GRCm38) |
I639F |
probably damaging |
Het |
| Myo15 |
A |
G |
11: 60,487,251 (GRCm38) |
E177G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,230,743 (GRCm38) |
M282L |
probably benign |
Het |
| Olfr433 |
A |
G |
1: 174,042,487 (GRCm38) |
D179G |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,957,699 (GRCm38) |
|
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,714,338 (GRCm38) |
M64L |
probably benign |
Het |
| Prnp |
A |
T |
2: 131,936,524 (GRCm38) |
N32I |
probably damaging |
Het |
| Ptpn11 |
C |
T |
5: 121,149,111 (GRCm38) |
V406I |
probably benign |
Het |
| Rab40c |
G |
A |
17: 25,884,693 (GRCm38) |
T151I |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,234,271 (GRCm38) |
|
probably null |
Het |
| Rnf145 |
T |
C |
11: 44,524,988 (GRCm38) |
V10A |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,880,692 (GRCm38) |
N70S |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,859,042 (GRCm38) |
C483* |
probably null |
Het |
| Sema4a |
T |
A |
3: 88,453,098 (GRCm38) |
Q58L |
possibly damaging |
Het |
| Slf1 |
T |
C |
13: 77,100,948 (GRCm38) |
|
probably null |
Het |
| Sycp1 |
G |
T |
3: 102,915,245 (GRCm38) |
N364K |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,896,275 (GRCm38) |
|
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,450,707 (GRCm38) |
T537A |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,703,597 (GRCm38) |
I573T |
possibly damaging |
Het |
| Ugt2b38 |
G |
A |
5: 87,411,773 (GRCm38) |
T420I |
probably damaging |
Het |
| Ulk1 |
A |
T |
5: 110,789,545 (GRCm38) |
|
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,648,944 (GRCm38) |
C2367Y |
possibly damaging |
Het |
| Usp7 |
C |
A |
16: 8,703,502 (GRCm38) |
G135C |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 19,793,927 (GRCm38) |
Y327C |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,488,027 (GRCm38) |
H407L |
probably damaging |
Het |
| Zfp804a |
A |
C |
2: 82,259,162 (GRCm38) |
T1112P |
probably damaging |
Het |
| Zfr2 |
A |
G |
10: 81,245,408 (GRCm38) |
K431E |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 725,850 (GRCm38) |
Y638* |
probably null |
Het |
|
| Other mutations in Cpsf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00737:Cpsf2
|
APN |
12 |
101,983,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01114:Cpsf2
|
APN |
12 |
101,989,839 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01121:Cpsf2
|
APN |
12 |
101,988,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01377:Cpsf2
|
APN |
12 |
101,987,381 (GRCm38) |
splice site |
probably null |
|
|
IGL01465:Cpsf2
|
APN |
12 |
101,997,333 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02861:Cpsf2
|
APN |
12 |
101,999,566 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0469:Cpsf2
|
UTSW |
12 |
101,988,786 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0504:Cpsf2
|
UTSW |
12 |
101,990,003 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0510:Cpsf2
|
UTSW |
12 |
101,988,786 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0626:Cpsf2
|
UTSW |
12 |
101,985,231 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0697:Cpsf2
|
UTSW |
12 |
101,983,184 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1475:Cpsf2
|
UTSW |
12 |
101,985,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1709:Cpsf2
|
UTSW |
12 |
101,999,542 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1974:Cpsf2
|
UTSW |
12 |
101,990,047 (GRCm38) |
missense |
probably benign |
0.33 |
|
R1996:Cpsf2
|
UTSW |
12 |
101,998,608 (GRCm38) |
missense |
probably benign |
0.18 |
|
R2063:Cpsf2
|
UTSW |
12 |
101,983,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2164:Cpsf2
|
UTSW |
12 |
101,985,335 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2228:Cpsf2
|
UTSW |
12 |
101,989,829 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3082:Cpsf2
|
UTSW |
12 |
101,988,810 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3732:Cpsf2
|
UTSW |
12 |
101,987,308 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3732:Cpsf2
|
UTSW |
12 |
101,987,308 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3733:Cpsf2
|
UTSW |
12 |
101,987,308 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4627:Cpsf2
|
UTSW |
12 |
101,989,895 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4665:Cpsf2
|
UTSW |
12 |
101,983,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4666:Cpsf2
|
UTSW |
12 |
101,983,207 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4765:Cpsf2
|
UTSW |
12 |
101,997,440 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4777:Cpsf2
|
UTSW |
12 |
101,996,832 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4847:Cpsf2
|
UTSW |
12 |
101,997,302 (GRCm38) |
missense |
probably benign |
0.18 |
|
R4923:Cpsf2
|
UTSW |
12 |
101,981,984 (GRCm38) |
missense |
probably benign |
|
|
R4975:Cpsf2
|
UTSW |
12 |
101,983,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5239:Cpsf2
|
UTSW |
12 |
101,987,273 (GRCm38) |
nonsense |
probably null |
|
|
R5440:Cpsf2
|
UTSW |
12 |
101,996,879 (GRCm38) |
missense |
probably benign |
|
|
R5601:Cpsf2
|
UTSW |
12 |
101,985,355 (GRCm38) |
splice site |
probably null |
|
|
R5603:Cpsf2
|
UTSW |
12 |
101,998,631 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5841:Cpsf2
|
UTSW |
12 |
101,985,238 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6153:Cpsf2
|
UTSW |
12 |
101,999,360 (GRCm38) |
splice site |
probably null |
|
|
R6663:Cpsf2
|
UTSW |
12 |
101,999,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7451:Cpsf2
|
UTSW |
12 |
102,000,792 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8357:Cpsf2
|
UTSW |
12 |
102,002,670 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8457:Cpsf2
|
UTSW |
12 |
102,002,670 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9123:Cpsf2
|
UTSW |
12 |
101,997,296 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9433:Cpsf2
|
UTSW |
12 |
101,981,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
V8831:Cpsf2
|
UTSW |
12 |
102,003,141 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATGCGCTTGTAGGACTTAGCAC -3'
(R):5'- GGAAACATGGGGTAGGACTTCTTGG -3'
Sequencing Primer
(F):5'- TTGTAGGACTTAGCACTCAACGG -3'
(R):5'- GCCTGTTTGAAGAAGCTCCC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation