Incidental Mutation 'R5601:Cpsf2'
| ID |
439038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf2
|
| Ensembl Gene |
ENSMUSG00000041781 |
| Gene Name |
cleavage and polyadenylation specific factor 2 |
| Synonyms |
100kDa, Cpsf, 2610024B04Rik |
| MMRRC Submission |
043153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R5601 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
101942247-101972683 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 101951614 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
G |
A |
13: 91,931,029 (GRCm39) |
V426I |
probably benign |
Het |
| Asmt |
T |
C |
X: 169,110,127 (GRCm39) |
V212A |
probably damaging |
Het |
| Atn1 |
A |
G |
6: 124,720,191 (GRCm39) |
|
probably null |
Het |
| Auts2 |
G |
T |
5: 131,505,662 (GRCm39) |
|
probably benign |
Het |
| AW551984 |
C |
T |
9: 39,502,563 (GRCm39) |
V672M |
possibly damaging |
Het |
| Bltp3a |
C |
A |
17: 28,103,468 (GRCm39) |
A392D |
probably damaging |
Het |
| Ccdc13 |
G |
A |
9: 121,629,638 (GRCm39) |
Q114* |
probably null |
Het |
| Ces2e |
A |
T |
8: 105,656,126 (GRCm39) |
I146F |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,280,549 (GRCm39) |
K1443E |
probably damaging |
Het |
| Cma2 |
T |
A |
14: 56,211,246 (GRCm39) |
H179Q |
possibly damaging |
Het |
| Cwh43 |
A |
G |
5: 73,575,283 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dram1 |
A |
G |
10: 88,160,629 (GRCm39) |
S231P |
probably damaging |
Het |
| Fbxw7 |
A |
G |
3: 84,883,515 (GRCm39) |
D482G |
probably damaging |
Het |
| Fstl1 |
T |
C |
16: 37,647,161 (GRCm39) |
I177T |
probably benign |
Het |
| Fut9 |
T |
C |
4: 25,620,299 (GRCm39) |
T172A |
probably benign |
Het |
| Gm5134 |
G |
A |
10: 75,821,786 (GRCm39) |
V207M |
probably damaging |
Het |
| Hccs |
G |
A |
X: 168,096,597 (GRCm39) |
R203C |
probably damaging |
Het |
| Hmgxb3 |
A |
T |
18: 61,270,694 (GRCm39) |
F877I |
probably damaging |
Het |
| Ide |
A |
G |
19: 37,292,379 (GRCm39) |
V272A |
unknown |
Het |
| Impact |
C |
T |
18: 13,109,064 (GRCm39) |
T65I |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Muc17 |
A |
G |
5: 137,166,863 (GRCm39) |
S309P |
probably damaging |
Het |
| Myf6 |
A |
C |
10: 107,330,475 (GRCm39) |
S31A |
probably damaging |
Het |
| Or4n4b |
C |
A |
14: 50,536,318 (GRCm39) |
W149C |
probably damaging |
Het |
| Or8b35 |
C |
G |
9: 37,904,010 (GRCm39) |
T74R |
possibly damaging |
Het |
| P4hb |
T |
A |
11: 120,462,441 (GRCm39) |
E88D |
possibly damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,535,259 (GRCm39) |
C418R |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,142,817 (GRCm39) |
D267G |
probably damaging |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
| Prss58 |
A |
T |
6: 40,874,783 (GRCm39) |
N19K |
possibly damaging |
Het |
| Ptprq |
C |
T |
10: 107,444,291 (GRCm39) |
A1438T |
probably benign |
Het |
| Rfx4 |
A |
T |
10: 84,634,442 (GRCm39) |
T61S |
probably damaging |
Het |
| Sclt1 |
T |
A |
3: 41,685,354 (GRCm39) |
N35Y |
probably benign |
Het |
| Sec24b |
CTG |
CTGGTG |
3: 129,834,483 (GRCm39) |
|
probably benign |
Het |
| Serpinb12 |
T |
C |
1: 106,881,427 (GRCm39) |
I188T |
probably damaging |
Het |
| Slc27a4 |
A |
T |
2: 29,695,672 (GRCm39) |
Y69F |
probably benign |
Het |
| Slc3a1 |
T |
C |
17: 85,340,319 (GRCm39) |
V247A |
probably benign |
Het |
| Slc4a2 |
C |
T |
5: 24,643,772 (GRCm39) |
T854I |
probably benign |
Het |
| Stat5b |
G |
A |
11: 100,674,001 (GRCm39) |
T761M |
probably damaging |
Het |
| Stkld1 |
T |
C |
2: 26,842,717 (GRCm39) |
L563P |
probably damaging |
Het |
| Tbc1d23 |
C |
A |
16: 57,018,672 (GRCm39) |
C283F |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,564,462 (GRCm39) |
N900S |
possibly damaging |
Het |
| Tkfc |
T |
C |
19: 10,571,927 (GRCm39) |
T370A |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,311,604 (GRCm39) |
V1868A |
possibly damaging |
Het |
| Triobp |
T |
A |
15: 78,857,833 (GRCm39) |
W1145R |
probably damaging |
Het |
| Vmn2r82 |
T |
G |
10: 79,232,025 (GRCm39) |
L675V |
probably damaging |
Het |
| Zfp423 |
T |
C |
8: 88,508,637 (GRCm39) |
E444G |
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 |
|
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 |
|
|
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'- TGTAAGTCCCATTGCTGCC -3'
(R):5'- ATTCACTACTTTGAACACCTCCAG -3'
Sequencing Primer
(F):5'- TATCTAGATAGATACCTCCAGGGG -3'
(R):5'- ACTCAGTACTTGGTGGTC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation