Incidental Mutation 'R7318:Cpsf1'
| ID |
565675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpsf1
|
| Ensembl Gene |
ENSMUSG00000034022 |
| Gene Name |
cleavage and polyadenylation specific factor 1 |
| Synonyms |
|
| MMRRC Submission |
045414-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R7318 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 76481475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 1159
(K1159*)
|
| 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 null
Transcript: ENSMUST00000071898
AA Change: K1159*
|
| SMART Domains |
Protein: ENSMUSP00000071794
Gene: ENSMUSG00000034022
AA Change: K1159*
| 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 null
Transcript: ENSMUST00000230157
AA Change: K1159*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
C |
7: 40,643,111 (GRCm39) |
L260S |
probably benign |
Het |
| 9130230L23Rik |
A |
T |
5: 66,145,771 (GRCm39) |
S113R |
unknown |
Het |
| Abcc5 |
G |
A |
16: 20,211,293 (GRCm39) |
P557S |
probably benign |
Het |
| Acad11 |
A |
G |
9: 103,958,466 (GRCm39) |
T245A |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,946,155 (GRCm39) |
F263L |
probably damaging |
Het |
| Ankle2 |
A |
T |
5: 110,385,632 (GRCm39) |
N327I |
probably benign |
Het |
| Appl1 |
T |
C |
14: 26,685,617 (GRCm39) |
E67G |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,506,211 (GRCm39) |
C864S |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,751,802 (GRCm39) |
I418V |
probably benign |
Het |
| Arhgef2 |
A |
T |
3: 88,539,610 (GRCm39) |
N102Y |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,513,089 (GRCm39) |
E431D |
probably damaging |
Het |
| Cbfa2t2 |
T |
C |
2: 154,342,374 (GRCm39) |
I30T |
probably benign |
Het |
| Cd40 |
A |
T |
2: 164,904,255 (GRCm39) |
D34V |
possibly damaging |
Het |
| Chrnb2 |
T |
A |
3: 89,670,674 (GRCm39) |
|
probably null |
Het |
| Chsy1 |
T |
G |
7: 65,759,977 (GRCm39) |
|
probably null |
Het |
| Cpne6 |
A |
G |
14: 55,751,751 (GRCm39) |
T245A |
possibly damaging |
Het |
| Crisp1 |
T |
A |
17: 40,618,668 (GRCm39) |
E64D |
possibly damaging |
Het |
| D3Ertd751e |
A |
G |
3: 41,756,986 (GRCm39) |
|
probably null |
Het |
| Dennd11 |
A |
G |
6: 40,386,098 (GRCm39) |
V333A |
possibly damaging |
Het |
| Dnah7b |
T |
A |
1: 46,234,532 (GRCm39) |
L1488Q |
probably damaging |
Het |
| Dnm2 |
G |
A |
9: 21,416,863 (GRCm39) |
G799R |
possibly damaging |
Het |
| Elp2 |
G |
A |
18: 24,739,956 (GRCm39) |
V61I |
probably damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,573,135 (GRCm39) |
L388P |
|
Het |
| Fry |
A |
T |
5: 150,360,458 (GRCm39) |
S2035C |
probably damaging |
Het |
| Gas8 |
T |
C |
8: 124,257,707 (GRCm39) |
F385L |
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,426,616 (GRCm39) |
V224A |
possibly damaging |
Het |
| Gstp2 |
T |
A |
19: 4,091,065 (GRCm39) |
R85W |
probably benign |
Het |
| Ighv1-20 |
T |
A |
12: 114,687,810 (GRCm39) |
I6F |
possibly damaging |
Het |
| Inpp4b |
T |
A |
8: 82,798,374 (GRCm39) |
M854K |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,817,014 (GRCm39) |
E538G |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
| Lmo3 |
T |
A |
6: 138,398,363 (GRCm39) |
|
probably benign |
Het |
| Lyg1 |
G |
A |
1: 37,988,936 (GRCm39) |
P95S |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,932,028 (GRCm39) |
H3552R |
probably benign |
Het |
| Mtif2 |
C |
T |
11: 29,490,115 (GRCm39) |
S385L |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,575,710 (GRCm39) |
I1737F |
unknown |
Het |
| Mug1 |
T |
C |
6: 121,847,611 (GRCm39) |
|
probably null |
Het |
| Mx1 |
G |
T |
16: 97,253,286 (GRCm39) |
Q350K |
probably benign |
Het |
| Mylk3 |
G |
T |
8: 86,085,726 (GRCm39) |
D269E |
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,448,332 (GRCm39) |
K974* |
probably null |
Het |
| Nectin4 |
G |
T |
1: 171,208,031 (GRCm39) |
R141L |
probably benign |
Het |
| Nlgn2 |
T |
C |
11: 69,716,795 (GRCm39) |
H582R |
probably damaging |
Het |
| Or51ab3 |
T |
A |
7: 103,201,298 (GRCm39) |
M102K |
probably damaging |
Het |
| Or51e1 |
T |
A |
7: 102,359,226 (GRCm39) |
Y253* |
probably null |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Psmd11 |
C |
A |
11: 80,347,128 (GRCm39) |
L171I |
probably benign |
Het |
| Rad54l |
A |
G |
4: 115,967,906 (GRCm39) |
V152A |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,318,909 (GRCm39) |
Y2473* |
probably null |
Het |
| Sertad1 |
T |
C |
7: 27,188,910 (GRCm39) |
I77T |
possibly damaging |
Het |
| Sesn3 |
A |
T |
9: 14,219,873 (GRCm39) |
E87D |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,950,477 (GRCm39) |
S260R |
probably benign |
Het |
| Slc6a12 |
G |
A |
6: 121,328,972 (GRCm39) |
G111S |
probably damaging |
Het |
| Slc6a12 |
T |
C |
6: 121,328,978 (GRCm39) |
Y113H |
probably benign |
Het |
| Spag17 |
T |
G |
3: 99,847,299 (GRCm39) |
M76R |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Stard13 |
G |
A |
5: 150,986,038 (GRCm39) |
Q491* |
probably null |
Het |
| Synpo2 |
T |
C |
3: 122,910,968 (GRCm39) |
S226G |
probably benign |
Het |
| Tada2b |
G |
A |
5: 36,641,331 (GRCm39) |
T24I |
probably benign |
Het |
| Tafa1 |
T |
C |
6: 96,092,737 (GRCm39) |
|
probably null |
Het |
| Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
| Tnnt1 |
T |
A |
7: 4,513,547 (GRCm39) |
|
probably null |
Het |
| Usp17lb |
T |
C |
7: 104,490,340 (GRCm39) |
I196V |
probably benign |
Het |
| Utp20 |
T |
A |
10: 88,649,811 (GRCm39) |
K466N |
possibly damaging |
Het |
| Wdr46 |
T |
C |
17: 34,160,859 (GRCm39) |
|
probably null |
Het |
| Zfp287 |
T |
A |
11: 62,605,104 (GRCm39) |
Q601L |
probably damaging |
Het |
| Zfp410 |
T |
C |
12: 84,372,464 (GRCm39) |
S97P |
probably benign |
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 |
|
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 |
|
|
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'- CTCCACAGGAAGATCTGTAGGG -3'
(R):5'- TAAAGGGCTATGTGGCTGC -3'
Sequencing Primer
(F):5'- TCTGTAGGGCAGGAGGC -3'
(R):5'- CTATGTGGCTGCTGGGACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation