Incidental Mutation 'R1475:Cpsf2'
| ID |
164012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf2
|
| Ensembl Gene |
ENSMUSG00000041781 |
| Gene Name |
cleavage and polyadenylation specific factor 2 |
| Synonyms |
100kDa, Cpsf, 2610024B04Rik |
| MMRRC Submission |
039528-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R1475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
101942247-101972683 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101951495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 144
(L144S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047357]
|
| AlphaFold |
O35218 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047357
AA Change: L144S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047797
Gene: ENSMUSG00000041781
AA Change: L144S
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
A |
T |
8: 122,267,327 (GRCm39) |
|
probably benign |
Het |
| 9230112D13Rik |
T |
A |
14: 34,234,012 (GRCm39) |
D93V |
unknown |
Het |
| Aatk |
G |
A |
11: 119,901,714 (GRCm39) |
T894M |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,333,313 (GRCm39) |
I479T |
possibly damaging |
Het |
| Acap3 |
T |
C |
4: 155,987,278 (GRCm39) |
I431T |
probably damaging |
Het |
| Adgrl1 |
A |
G |
8: 84,664,979 (GRCm39) |
K1267R |
possibly damaging |
Het |
| Bphl |
A |
C |
13: 34,244,507 (GRCm39) |
D208A |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 143,018,298 (GRCm39) |
D308G |
possibly damaging |
Het |
| Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
| Cdk11b |
G |
A |
4: 155,718,674 (GRCm39) |
R208H |
probably damaging |
Het |
| Cfap44 |
T |
C |
16: 44,254,175 (GRCm39) |
|
probably benign |
Het |
| Chrna4 |
T |
C |
2: 180,671,172 (GRCm39) |
S195G |
probably benign |
Het |
| Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
| Dffa |
T |
A |
4: 149,201,935 (GRCm39) |
L171Q |
probably damaging |
Het |
| Emcn |
C |
T |
3: 137,085,668 (GRCm39) |
H89Y |
possibly damaging |
Het |
| Espn |
G |
A |
4: 152,218,728 (GRCm39) |
P452S |
probably damaging |
Het |
| Fam78b |
T |
A |
1: 166,829,346 (GRCm39) |
I71N |
probably damaging |
Het |
| Fam89b |
A |
G |
19: 5,779,447 (GRCm39) |
S37P |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,942,472 (GRCm39) |
R455H |
probably damaging |
Het |
| Fbxo6 |
A |
G |
4: 148,230,567 (GRCm39) |
F232L |
probably benign |
Het |
| Fcamr |
T |
A |
1: 130,742,221 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
T |
C |
19: 6,996,242 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,817,539 (GRCm39) |
D4424V |
probably damaging |
Het |
| Gaa |
G |
A |
11: 119,165,142 (GRCm39) |
|
probably null |
Het |
| Glce |
T |
C |
9: 61,968,210 (GRCm39) |
T314A |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,093,012 (GRCm39) |
Q575R |
possibly damaging |
Het |
| Il23r |
C |
A |
6: 67,429,280 (GRCm39) |
|
probably null |
Het |
| Kcnj4 |
T |
A |
15: 79,368,831 (GRCm39) |
E383V |
probably damaging |
Het |
| Lrsam1 |
G |
T |
2: 32,844,277 (GRCm39) |
Q115K |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,882,797 (GRCm39) |
|
probably null |
Het |
| Myf5 |
A |
G |
10: 107,320,515 (GRCm39) |
V190A |
probably benign |
Het |
| Nmnat2 |
G |
A |
1: 152,950,441 (GRCm39) |
R42H |
probably damaging |
Het |
| Or8b42 |
T |
A |
9: 38,342,160 (GRCm39) |
V194D |
probably benign |
Het |
| Or8k20 |
A |
T |
2: 86,105,905 (GRCm39) |
*309R |
probably null |
Het |
| Osbpl1a |
T |
A |
18: 12,890,737 (GRCm39) |
K380M |
probably damaging |
Het |
| Pgd |
T |
C |
4: 149,241,232 (GRCm39) |
T226A |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 71,965,453 (GRCm39) |
T127A |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,165 (GRCm39) |
D954G |
possibly damaging |
Het |
| Pramel14 |
T |
C |
4: 143,720,882 (GRCm39) |
K20E |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,801,047 (GRCm39) |
F236I |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,885,785 (GRCm39) |
N63S |
probably benign |
Het |
| Syf2 |
T |
A |
4: 134,662,745 (GRCm39) |
M145K |
possibly damaging |
Het |
| Usp34 |
C |
A |
11: 23,423,253 (GRCm39) |
L3152I |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,611,787 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,830,645 (GRCm39) |
I929N |
probably benign |
Het |
| Zfp874b |
A |
T |
13: 67,622,211 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTAACAGATATGGAACCAACTCGGC -3'
(R):5'- GACAATAACCGCATTTCCTTGAGCAC -3'
Sequencing Primer
(F):5'- caggggaacacataatgaaatgag -3'
(R):5'- GCATTTCCTTGAGCACTTGTC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation