Incidental Mutation 'R8345:Cpsf1'
| ID |
645202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf1
|
| Ensembl Gene |
ENSMUSG00000034022 |
| Gene Name |
cleavage and polyadenylation specific factor 1 |
| Synonyms |
|
| MMRRC Submission |
067801-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R8345 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76485690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 435
(T435S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
| AlphaFold |
Q9EPU4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071898
AA Change: T435S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: T435S
| 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: ENSMUST00000229287
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230157
AA Change: T435S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
T |
C |
8: 123,508,284 (GRCm39) |
V260A |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,251,505 (GRCm39) |
D6204G |
probably damaging |
Het |
| Ago3 |
T |
A |
4: 126,270,721 (GRCm39) |
K258* |
probably null |
Het |
| Aspm |
T |
G |
1: 139,392,011 (GRCm39) |
Y787* |
probably null |
Het |
| Atp8b5 |
A |
C |
4: 43,291,714 (GRCm39) |
D29A |
probably benign |
Het |
| Bdh2 |
A |
T |
3: 135,001,013 (GRCm39) |
I128F |
probably damaging |
Het |
| Bmper |
T |
A |
9: 23,136,126 (GRCm39) |
M69K |
probably benign |
Het |
| Ccdc7a |
C |
T |
8: 129,525,245 (GRCm39) |
M1415I |
probably benign |
Het |
| Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
| Cdc23 |
G |
A |
18: 34,767,150 (GRCm39) |
T564I |
probably benign |
Het |
| Cemip |
T |
A |
7: 83,591,373 (GRCm39) |
|
probably null |
Het |
| Cfap65 |
C |
T |
1: 74,967,203 (GRCm39) |
G249R |
probably benign |
Het |
| Clec2m |
T |
A |
6: 129,302,593 (GRCm39) |
N145Y |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,504,477 (GRCm39) |
T879A |
possibly damaging |
Het |
| Diaph3 |
G |
A |
14: 87,066,529 (GRCm39) |
Q955* |
probably null |
Het |
| Disp2 |
G |
A |
2: 118,641,284 (GRCm39) |
V298M |
unknown |
Het |
| Dnah1 |
C |
A |
14: 30,986,551 (GRCm39) |
D3671Y |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,885,234 (GRCm39) |
S13P |
unknown |
Het |
| Eci3 |
G |
A |
13: 35,132,164 (GRCm39) |
T228I |
probably damaging |
Het |
| Ecm2 |
T |
C |
13: 49,674,276 (GRCm39) |
L232P |
probably benign |
Het |
| Ednra |
G |
A |
8: 78,415,813 (GRCm39) |
R145C |
probably damaging |
Het |
| Faap100 |
G |
T |
11: 120,267,856 (GRCm39) |
H306N |
possibly damaging |
Het |
| Fam8a1 |
T |
A |
13: 46,827,054 (GRCm39) |
I275K |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 15,910,570 (GRCm39) |
V1811L |
probably benign |
Het |
| Fbn2 |
C |
T |
18: 58,191,503 (GRCm39) |
C1540Y |
probably damaging |
Het |
| Fcgbpl1 |
G |
A |
7: 27,854,785 (GRCm39) |
V1804M |
probably damaging |
Het |
| Ffar3 |
A |
G |
7: 30,554,789 (GRCm39) |
L177P |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,077,440 (GRCm39) |
T267A |
possibly damaging |
Het |
| Fsip1 |
T |
C |
2: 118,070,952 (GRCm39) |
E246G |
probably damaging |
Het |
| Gemin4 |
A |
G |
11: 76,101,605 (GRCm39) |
L1052P |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,042,010 (GRCm39) |
C505Y |
probably benign |
Het |
| Grm5 |
A |
T |
7: 87,723,746 (GRCm39) |
I679F |
probably damaging |
Het |
| Hapln1 |
A |
T |
13: 89,732,902 (GRCm39) |
D21V |
probably benign |
Het |
| Jak2 |
T |
C |
19: 29,262,270 (GRCm39) |
S364P |
probably damaging |
Het |
| Kansl3 |
A |
G |
1: 36,387,897 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
T |
C |
5: 123,924,993 (GRCm39) |
L1102S |
probably benign |
Het |
| Mbd3l2 |
A |
G |
9: 18,355,779 (GRCm39) |
I35V |
probably benign |
Het |
| Mdfic |
G |
T |
6: 15,799,653 (GRCm39) |
C260F |
probably damaging |
Het |
| Mroh2b |
T |
C |
15: 4,973,808 (GRCm39) |
S1109P |
probably benign |
Het |
| Myocd |
A |
T |
11: 65,077,958 (GRCm39) |
C612* |
probably null |
Het |
| Or4b13 |
A |
T |
2: 90,082,561 (GRCm39) |
M257K |
possibly damaging |
Het |
| Or4c102 |
A |
G |
2: 88,422,435 (GRCm39) |
M96V |
probably benign |
Het |
| Or4f17-ps1 |
T |
A |
2: 111,357,864 (GRCm39) |
C86* |
probably null |
Het |
| Or52h7 |
T |
A |
7: 104,213,431 (GRCm39) |
M1K |
probably null |
Het |
| Or5w22 |
A |
T |
2: 87,362,691 (GRCm39) |
T105S |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,451 (GRCm39) |
Y60N |
probably damaging |
Het |
| Pard3 |
C |
T |
8: 128,050,549 (GRCm39) |
R204W |
probably damaging |
Het |
| Per1 |
T |
A |
11: 68,998,382 (GRCm39) |
N1031K |
possibly damaging |
Het |
| Plekhh3 |
A |
G |
11: 101,055,105 (GRCm39) |
S583P |
unknown |
Het |
| Pramel12 |
C |
T |
4: 143,143,438 (GRCm39) |
T68I |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,270,118 (GRCm39) |
C1268S |
possibly damaging |
Het |
| Prpf6 |
T |
C |
2: 181,291,951 (GRCm39) |
I756T |
probably benign |
Het |
| Pum2 |
T |
C |
12: 8,759,454 (GRCm39) |
V98A |
probably damaging |
Het |
| Rad50 |
A |
T |
11: 53,574,968 (GRCm39) |
S652T |
probably benign |
Het |
| Rfng |
G |
T |
11: 120,674,901 (GRCm39) |
P30T |
unknown |
Het |
| Rfx7 |
T |
C |
9: 72,524,973 (GRCm39) |
I721T |
probably benign |
Het |
| Rpf1 |
G |
T |
3: 146,213,431 (GRCm39) |
T240K |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,483,270 (GRCm39) |
N4189S |
probably benign |
Het |
| Samd15 |
G |
C |
12: 87,248,212 (GRCm39) |
R299T |
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,329,335 (GRCm39) |
M765T |
possibly damaging |
Het |
| Scn9a |
G |
A |
2: 66,324,966 (GRCm39) |
S1396L |
probably damaging |
Het |
| Sec24a |
C |
T |
11: 51,634,605 (GRCm39) |
R107Q |
probably benign |
Het |
| Sema4b |
T |
A |
7: 79,870,567 (GRCm39) |
V505E |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,920,498 (GRCm39) |
T769S |
possibly damaging |
Het |
| Sit1 |
T |
C |
4: 43,483,168 (GRCm39) |
E69G |
possibly damaging |
Het |
| Slc12a8 |
C |
A |
16: 33,371,321 (GRCm39) |
D121E |
probably benign |
Het |
| Slc30a10 |
A |
T |
1: 185,187,664 (GRCm39) |
Q135L |
probably benign |
Het |
| Suox |
A |
G |
10: 128,507,200 (GRCm39) |
V276A |
probably benign |
Het |
| Tbc1d9b |
A |
G |
11: 50,040,659 (GRCm39) |
D392G |
probably damaging |
Het |
| Tmed5 |
A |
G |
5: 108,273,823 (GRCm39) |
W139R |
probably damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,893,226 (GRCm39) |
T389I |
possibly damaging |
Het |
| Vmn1r65 |
A |
T |
7: 6,011,256 (GRCm39) |
I326K |
probably benign |
Het |
| Vmn2r43 |
A |
G |
7: 8,256,601 (GRCm39) |
S421P |
possibly damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,076,968 (GRCm39) |
N399K |
possibly damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,933,127 (GRCm39) |
L229* |
probably null |
Het |
| Vwf |
A |
T |
6: 125,656,265 (GRCm39) |
D2610V |
|
Het |
| Zfp646 |
C |
T |
7: 127,483,082 (GRCm39) |
S1753L |
probably benign |
Het |
| Zfy2 |
C |
A |
Y: 2,107,096 (GRCm39) |
V513F |
possibly damaging |
Het |
| Zranb2 |
A |
T |
3: 157,251,731 (GRCm39) |
I317F |
unknown |
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 |
|
R8382:Cpsf1
|
UTSW |
15 |
76,485,151 (GRCm39) |
missense |
probably benign |
|
|
R8403:Cpsf1
|
UTSW |
15 |
76,484,483 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- GTTGAGCATGCTGTCACATAC -3'
(R):5'- CAAGGTAAGTGCCCACAATGTG -3'
Sequencing Primer
(F):5'- TAAGTAGCCAGCTGTGTG -3'
(R):5'- CCATGTGTAAGACAGCCTCAGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation