Incidental Mutation 'R1239:Cpsf6'
| ID |
151892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf6
|
| Ensembl Gene |
ENSMUSG00000055531 |
| Gene Name |
cleavage and polyadenylation specific factor 6 |
| Synonyms |
HPBRII-4, HPBRII-7, 4733401N12Rik, CFIM68 |
| MMRRC Submission |
039306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R1239 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
117180572-117212903 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 117197248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135550
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069168]
[ENSMUST00000175924]
[ENSMUST00000176480]
[ENSMUST00000176670]
[ENSMUST00000176686]
[ENSMUST00000177145]
|
| AlphaFold |
Q6NVF9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000069168
AA Change: R238C
|
| SMART Domains |
Protein: ENSMUSP00000068408
Gene: ENSMUSG00000055531
AA Change: R238C
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
82 |
157 |
8.79e-11 |
SMART |
|
low complexity region
|
182 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
551 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175924
|
| SMART Domains |
Protein: ENSMUSP00000135848
Gene: ENSMUSG00000055531
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3Q2T|D
|
19 |
91 |
3e-48 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176480
|
| SMART Domains |
Protein: ENSMUSP00000135550
Gene: ENSMUSG00000055531
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
182 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176567
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176670
AA Change: R275C
|
| SMART Domains |
Protein: ENSMUSP00000135150
Gene: ENSMUSG00000055531
AA Change: R275C
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
82 |
157 |
8.79e-11 |
SMART |
|
low complexity region
|
182 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
588 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176686
AA Change: R238C
|
| SMART Domains |
Protein: ENSMUSP00000134823
Gene: ENSMUSG00000055531
AA Change: R238C
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
82 |
157 |
8.79e-11 |
SMART |
|
low complexity region
|
182 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
552 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000177145
AA Change: R238C
|
| SMART Domains |
Protein: ENSMUSP00000135136
Gene: ENSMUSG00000055531
AA Change: R238C
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
82 |
157 |
8.79e-11 |
SMART |
|
low complexity region
|
182 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
551 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1041 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
C |
T |
19: 4,915,483 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
G |
T |
15: 64,587,911 (GRCm39) |
R959S |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,586,171 (GRCm39) |
N455D |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,436,535 (GRCm39) |
T589A |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,863,347 (GRCm39) |
N1228K |
probably damaging |
Het |
| Ces4a |
T |
C |
8: 105,876,130 (GRCm39) |
L557P |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
| Clba1 |
A |
G |
12: 112,773,123 (GRCm39) |
R39G |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,237,152 (GRCm39) |
|
probably benign |
Het |
| Cplx2 |
G |
T |
13: 54,527,415 (GRCm39) |
A100S |
probably damaging |
Het |
| Cyp1a2 |
A |
G |
9: 57,589,050 (GRCm39) |
F255L |
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,492,313 (GRCm39) |
Y783H |
probably damaging |
Het |
| E230025N22Rik |
T |
C |
18: 36,818,528 (GRCm39) |
I434V |
probably damaging |
Het |
| Ermap |
T |
C |
4: 119,046,122 (GRCm39) |
K3E |
probably benign |
Het |
| Gatd3a |
A |
G |
10: 78,004,761 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
G |
A |
3: 107,891,344 (GRCm39) |
L125F |
possibly damaging |
Het |
| Hk2 |
C |
T |
6: 82,726,289 (GRCm39) |
G58R |
probably damaging |
Het |
| Jpt2 |
T |
C |
17: 25,179,585 (GRCm39) |
M1V |
probably null |
Het |
| Matcap2 |
GTTCTTC |
GTTC |
9: 22,335,995 (GRCm39) |
|
probably benign |
Het |
| Mgmt |
T |
C |
7: 136,729,786 (GRCm39) |
F200S |
probably benign |
Het |
| Mug2 |
T |
G |
6: 122,058,637 (GRCm39) |
|
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or5an11 |
G |
T |
19: 12,246,340 (GRCm39) |
V249F |
probably damaging |
Het |
| Or5b109 |
G |
A |
19: 13,212,040 (GRCm39) |
C142Y |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,968,279 (GRCm39) |
V886A |
probably damaging |
Het |
| Plcg2 |
T |
A |
8: 118,282,783 (GRCm39) |
V88D |
probably benign |
Het |
| Podxl2 |
C |
T |
6: 88,826,965 (GRCm39) |
V50I |
probably benign |
Het |
| Rap1gap |
G |
T |
4: 137,445,307 (GRCm39) |
M329I |
probably damaging |
Het |
| Rbm5 |
A |
G |
9: 107,630,165 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,821,430 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,897,929 (GRCm39) |
|
probably null |
Het |
| Skida1 |
A |
C |
2: 18,052,128 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,243,781 (GRCm39) |
F2024L |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Vmn1r16 |
C |
T |
6: 57,300,618 (GRCm39) |
M1I |
probably null |
Het |
| Zbtb39 |
G |
T |
10: 127,578,938 (GRCm39) |
G504V |
probably damaging |
Het |
| Zfp1004 |
T |
C |
2: 150,033,891 (GRCm39) |
Y71H |
possibly damaging |
Het |
| Zfp106 |
A |
T |
2: 120,364,075 (GRCm39) |
N777K |
probably damaging |
Het |
|
| Other mutations in Cpsf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Cpsf6
|
APN |
10 |
117,202,034 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03018:Cpsf6
|
APN |
10 |
117,203,861 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03392:Cpsf6
|
APN |
10 |
117,203,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1006:Cpsf6
|
UTSW |
10 |
117,201,973 (GRCm39) |
splice site |
probably benign |
|
|
R1611:Cpsf6
|
UTSW |
10 |
117,197,733 (GRCm39) |
intron |
probably benign |
|
|
R2041:Cpsf6
|
UTSW |
10 |
117,195,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2117:Cpsf6
|
UTSW |
10 |
117,202,025 (GRCm39) |
unclassified |
probably benign |
|
|
R2225:Cpsf6
|
UTSW |
10 |
117,198,941 (GRCm39) |
unclassified |
probably benign |
|
|
R4752:Cpsf6
|
UTSW |
10 |
117,197,273 (GRCm39) |
splice site |
probably benign |
|
|
R5001:Cpsf6
|
UTSW |
10 |
117,203,866 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5176:Cpsf6
|
UTSW |
10 |
117,197,189 (GRCm39) |
unclassified |
probably benign |
|
|
R5393:Cpsf6
|
UTSW |
10 |
117,197,921 (GRCm39) |
unclassified |
probably benign |
|
|
R5696:Cpsf6
|
UTSW |
10 |
117,196,934 (GRCm39) |
unclassified |
probably benign |
|
|
R7216:Cpsf6
|
UTSW |
10 |
117,197,928 (GRCm39) |
missense |
unknown |
|
|
R7226:Cpsf6
|
UTSW |
10 |
117,197,727 (GRCm39) |
missense |
unknown |
|
|
R7522:Cpsf6
|
UTSW |
10 |
117,203,734 (GRCm39) |
missense |
unknown |
|
|
Z1088:Cpsf6
|
UTSW |
10 |
117,191,946 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCCAAAAGGTTGTCCAGGAA -3'
(R):5'- CATGGCATATGGGGCACAGCAT -3'
Sequencing Primer
(F):5'- TTGTCCAGGAAAAAGAACTGGTG -3'
(R):5'- TCTAGCTTGGCATCAGAGTAGAC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation