Incidental Mutation 'R8403:Cpsf1'
| ID |
652290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf1
|
| Ensembl Gene |
ENSMUSG00000034022 |
| Gene Name |
cleavage and polyadenylation specific factor 1 |
| Synonyms |
|
| MMRRC Submission |
067813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R8403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76484483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 666
(F666S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000160784]
[ENSMUST00000161612]
[ENSMUST00000161732]
[ENSMUST00000162503]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
| AlphaFold |
Q9EPU4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071898
AA Change: F666S
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: F666S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMS1_N
|
92 |
684 |
7.2e-42 |
PFAM |
|
low complexity region
|
902 |
910 |
N/A |
INTRINSIC |
|
Pfam:CPSF_A
|
1071 |
1407 |
4.9e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160784
|
| SMART Domains |
Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
188 |
304 |
9.2e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161612
|
| SMART Domains |
Protein: ENSMUSP00000124701
Gene: ENSMUSG00000022550
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161732
|
| SMART Domains |
Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162503
|
| SMART Domains |
Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
188 |
304 |
2.3e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229287
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230157
AA Change: F666S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
| Meta Mutation Damage Score |
0.7853 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2b |
T |
A |
11: 62,140,141 (GRCm39) |
C72S |
probably damaging |
Het |
| Atcay |
T |
C |
10: 81,048,782 (GRCm39) |
Y183C |
probably damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,494,220 (GRCm39) |
I460N |
probably damaging |
Het |
| Bhmt1b |
C |
T |
18: 87,775,575 (GRCm39) |
S366F |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,637,327 (GRCm39) |
S223G |
possibly damaging |
Het |
| Ces2c |
T |
A |
8: 105,574,714 (GRCm39) |
V57D |
probably damaging |
Het |
| Ces2f |
T |
C |
8: 105,674,808 (GRCm39) |
V70A |
possibly damaging |
Het |
| Cntnap1 |
C |
T |
11: 101,068,416 (GRCm39) |
P114S |
probably damaging |
Het |
| Cuzd1 |
T |
A |
7: 130,913,297 (GRCm39) |
D440V |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,585,718 (GRCm39) |
E107G |
probably damaging |
Het |
| Dop1a |
G |
T |
9: 86,382,925 (GRCm39) |
R286L |
probably damaging |
Het |
| Fam135a |
G |
A |
1: 24,067,908 (GRCm39) |
T987I |
probably benign |
Het |
| Fastkd1 |
G |
T |
2: 69,517,425 (GRCm39) |
Y818* |
probably null |
Het |
| Fer1l4 |
A |
C |
2: 155,894,163 (GRCm39) |
F47V |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,275,790 (GRCm39) |
*125R |
probably null |
Het |
| Herc6 |
A |
G |
6: 57,560,191 (GRCm39) |
D77G |
probably benign |
Het |
| Hmox1 |
T |
C |
8: 75,823,959 (GRCm39) |
L209P |
probably damaging |
Het |
| Kcns3 |
A |
T |
12: 11,141,654 (GRCm39) |
D348E |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,052,918 (GRCm39) |
I417N |
|
Het |
| Lmo7 |
T |
C |
14: 102,139,800 (GRCm39) |
S1028P |
probably benign |
Het |
| Lrrc37a |
C |
G |
11: 103,392,411 (GRCm39) |
E1005Q |
probably benign |
Het |
| Mis18bp1 |
A |
T |
12: 65,201,585 (GRCm39) |
I372K |
possibly damaging |
Het |
| Nr4a3 |
A |
G |
4: 48,051,348 (GRCm39) |
D34G |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,884,948 (GRCm39) |
V274D |
probably benign |
Het |
| Parp12 |
T |
C |
6: 39,068,279 (GRCm39) |
D496G |
probably benign |
Het |
| Rom1 |
A |
G |
19: 8,905,244 (GRCm39) |
V282A |
probably benign |
Het |
| Rp1l1 |
G |
A |
14: 64,266,258 (GRCm39) |
V615I |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,389,658 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,699,364 (GRCm39) |
I2959T |
possibly damaging |
Het |
| Sema4a |
T |
G |
3: 88,359,341 (GRCm39) |
K117Q |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,139,004 (GRCm39) |
M486T |
possibly damaging |
Het |
| Sntb2 |
T |
A |
8: 107,728,166 (GRCm39) |
C371* |
probably null |
Het |
| Spata31d1c |
A |
G |
13: 65,184,044 (GRCm39) |
T529A |
probably benign |
Het |
| Tchp |
G |
T |
5: 114,846,827 (GRCm39) |
R38L |
possibly damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,773,926 (GRCm39) |
V320A |
probably benign |
Het |
| Trim50 |
A |
T |
5: 135,392,646 (GRCm39) |
D187V |
probably damaging |
Het |
| Ttl |
A |
G |
2: 128,923,163 (GRCm39) |
E168G |
possibly damaging |
Het |
| Tuba1c |
T |
A |
15: 98,931,985 (GRCm39) |
I5N |
probably damaging |
Het |
| Tyr |
C |
T |
7: 87,087,175 (GRCm39) |
G446R |
probably damaging |
Het |
| Vps35 |
C |
T |
8: 86,001,487 (GRCm39) |
V444I |
probably benign |
Het |
| Vstm2b |
T |
C |
7: 40,551,899 (GRCm39) |
S76P |
probably damaging |
Het |
|
| Other mutations in Cpsf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Cpsf1
|
APN |
15 |
76,484,416 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01013:Cpsf1
|
APN |
15 |
76,483,497 (GRCm39) |
nonsense |
probably null |
|
|
IGL01599:Cpsf1
|
APN |
15 |
76,480,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Cpsf1
|
APN |
15 |
76,487,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02291:Cpsf1
|
APN |
15 |
76,487,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02901:Cpsf1
|
APN |
15 |
76,483,696 (GRCm39) |
nonsense |
probably null |
|
|
IGL02929:Cpsf1
|
APN |
15 |
76,486,327 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03402:Cpsf1
|
APN |
15 |
76,480,203 (GRCm39) |
splice site |
probably null |
|
|
R0005:Cpsf1
|
UTSW |
15 |
76,484,880 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0044:Cpsf1
|
UTSW |
15 |
76,483,753 (GRCm39) |
missense |
probably benign |
|
|
R0044:Cpsf1
|
UTSW |
15 |
76,483,753 (GRCm39) |
missense |
probably benign |
|
|
R0487:Cpsf1
|
UTSW |
15 |
76,481,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Cpsf1
|
UTSW |
15 |
76,487,857 (GRCm39) |
intron |
probably benign |
|
|
R0630:Cpsf1
|
UTSW |
15 |
76,486,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0780:Cpsf1
|
UTSW |
15 |
76,484,577 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1617:Cpsf1
|
UTSW |
15 |
76,486,570 (GRCm39) |
nonsense |
probably null |
|
|
R1717:Cpsf1
|
UTSW |
15 |
76,486,766 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1889:Cpsf1
|
UTSW |
15 |
76,486,356 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1994:Cpsf1
|
UTSW |
15 |
76,487,360 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2168:Cpsf1
|
UTSW |
15 |
76,487,937 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2359:Cpsf1
|
UTSW |
15 |
76,481,873 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2697:Cpsf1
|
UTSW |
15 |
76,483,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2847:Cpsf1
|
UTSW |
15 |
76,487,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2848:Cpsf1
|
UTSW |
15 |
76,487,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3409:Cpsf1
|
UTSW |
15 |
76,485,981 (GRCm39) |
nonsense |
probably null |
|
|
R3410:Cpsf1
|
UTSW |
15 |
76,485,981 (GRCm39) |
nonsense |
probably null |
|
|
R3815:Cpsf1
|
UTSW |
15 |
76,485,349 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4030:Cpsf1
|
UTSW |
15 |
76,485,979 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4491:Cpsf1
|
UTSW |
15 |
76,481,922 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4615:Cpsf1
|
UTSW |
15 |
76,481,137 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5227:Cpsf1
|
UTSW |
15 |
76,483,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5353:Cpsf1
|
UTSW |
15 |
76,486,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5548:Cpsf1
|
UTSW |
15 |
76,481,527 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5552:Cpsf1
|
UTSW |
15 |
76,483,846 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5746:Cpsf1
|
UTSW |
15 |
76,484,037 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6319:Cpsf1
|
UTSW |
15 |
76,481,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
|
R6572:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
|
R6574:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
|
R6576:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
|
R6577:Cpsf1
|
UTSW |
15 |
76,481,655 (GRCm39) |
frame shift |
probably null |
|
|
R6588:Cpsf1
|
UTSW |
15 |
76,481,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6595:Cpsf1
|
UTSW |
15 |
76,486,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6621:Cpsf1
|
UTSW |
15 |
76,487,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6880:Cpsf1
|
UTSW |
15 |
76,486,739 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6954:Cpsf1
|
UTSW |
15 |
76,483,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7100:Cpsf1
|
UTSW |
15 |
76,480,314 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7255:Cpsf1
|
UTSW |
15 |
76,481,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7318:Cpsf1
|
UTSW |
15 |
76,481,475 (GRCm39) |
nonsense |
probably null |
|
|
R7371:Cpsf1
|
UTSW |
15 |
76,484,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Cpsf1
|
UTSW |
15 |
76,486,766 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7446:Cpsf1
|
UTSW |
15 |
76,485,950 (GRCm39) |
missense |
probably benign |
|
|
R7612:Cpsf1
|
UTSW |
15 |
76,481,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7739:Cpsf1
|
UTSW |
15 |
76,484,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7878:Cpsf1
|
UTSW |
15 |
76,484,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8334:Cpsf1
|
UTSW |
15 |
76,487,787 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8345:Cpsf1
|
UTSW |
15 |
76,485,690 (GRCm39) |
missense |
probably benign |
|
|
R8382:Cpsf1
|
UTSW |
15 |
76,485,151 (GRCm39) |
missense |
probably benign |
|
|
R8968:Cpsf1
|
UTSW |
15 |
76,486,169 (GRCm39) |
nonsense |
probably null |
|
|
R8972:Cpsf1
|
UTSW |
15 |
76,481,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9257:Cpsf1
|
UTSW |
15 |
76,484,992 (GRCm39) |
missense |
probably benign |
|
|
R9627:Cpsf1
|
UTSW |
15 |
76,484,088 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9776:Cpsf1
|
UTSW |
15 |
76,486,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0052:Cpsf1
|
UTSW |
15 |
76,480,502 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCACCTTGGACTGCTGTAGG -3'
(R):5'- CATTGTTCAAGTCTCGCCACTG -3'
Sequencing Primer
(F):5'- CCTTGGACTGCTGTAGGAAGAAG -3'
(R):5'- GCATTCGCCTGTTGGAAGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation