Incidental Mutation 'R8972:Cpsf1'
ID |
683200 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
068806-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R8972 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76481528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1141
(D1141G)
|
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: D1141G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: D1141G
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: D1141G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (70/71) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,278,138 (GRCm39) |
S3106F |
probably damaging |
Het |
Acss1 |
G |
T |
2: 150,484,809 (GRCm39) |
R145S |
probably damaging |
Het |
Acss3 |
T |
C |
10: 106,920,783 (GRCm39) |
Y109C |
probably damaging |
Het |
Adgre4 |
G |
T |
17: 56,109,189 (GRCm39) |
G399C |
probably damaging |
Het |
Alpk1 |
A |
G |
3: 127,473,232 (GRCm39) |
S924P |
probably damaging |
Het |
Anapc4 |
T |
A |
5: 53,007,884 (GRCm39) |
D382E |
possibly damaging |
Het |
Arfgef2 |
C |
T |
2: 166,709,253 (GRCm39) |
A1110V |
possibly damaging |
Het |
Arhgap20 |
T |
C |
9: 51,760,311 (GRCm39) |
F721L |
probably benign |
Het |
Arhgef39 |
T |
C |
4: 43,497,185 (GRCm39) |
S269G |
probably benign |
Het |
Asap2 |
C |
T |
12: 21,279,249 (GRCm39) |
T377M |
probably damaging |
Het |
Baiap3 |
G |
T |
17: 25,466,010 (GRCm39) |
A558E |
probably benign |
Het |
Birc6 |
A |
C |
17: 75,009,313 (GRCm39) |
T4862P |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,867,884 (GRCm39) |
T843A |
probably benign |
Het |
Ccdc187 |
A |
T |
2: 26,171,079 (GRCm39) |
D466E |
probably benign |
Het |
Ccdc88a |
T |
G |
11: 29,435,888 (GRCm39) |
N1270K |
probably benign |
Het |
Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
Cntn1 |
T |
G |
15: 92,150,278 (GRCm39) |
Y371D |
probably benign |
Het |
Crebbp |
C |
T |
16: 3,925,935 (GRCm39) |
V1193I |
probably benign |
Het |
Csf2ra |
A |
T |
19: 61,213,597 (GRCm39) |
S371T |
probably null |
Het |
Csf2rb2 |
T |
C |
15: 78,172,115 (GRCm39) |
N432D |
probably benign |
Het |
Cul9 |
A |
T |
17: 46,854,177 (GRCm39) |
L175Q |
probably damaging |
Het |
Dlc1 |
T |
A |
8: 37,405,394 (GRCm39) |
R132* |
probably null |
Het |
Dock5 |
C |
A |
14: 68,013,749 (GRCm39) |
L1324F |
probably damaging |
Het |
Dop1a |
T |
C |
9: 86,403,300 (GRCm39) |
V36A |
possibly damaging |
Het |
Fap |
A |
G |
2: 62,378,927 (GRCm39) |
V158A |
probably benign |
Het |
G2e3 |
T |
A |
12: 51,410,277 (GRCm39) |
S319T |
possibly damaging |
Het |
Gatd3a |
T |
C |
10: 78,003,323 (GRCm39) |
I110V |
possibly damaging |
Het |
Gphn |
T |
C |
12: 78,656,013 (GRCm39) |
|
probably null |
Het |
Gucy2g |
A |
G |
19: 55,226,406 (GRCm39) |
I170T |
probably benign |
Het |
Hmgxb4 |
T |
A |
8: 75,748,466 (GRCm39) |
W438R |
probably damaging |
Het |
Igkv14-126 |
G |
T |
6: 67,873,329 (GRCm39) |
G19V |
probably damaging |
Het |
Kansl1l |
C |
T |
1: 66,812,101 (GRCm39) |
C506Y |
probably damaging |
Het |
Kif2a |
T |
C |
13: 107,115,543 (GRCm39) |
T321A |
probably damaging |
Het |
Krtap6-5 |
C |
T |
16: 88,844,607 (GRCm39) |
R42H |
unknown |
Het |
Map4 |
T |
A |
9: 109,864,185 (GRCm39) |
M470K |
probably benign |
Het |
Mill1 |
T |
C |
7: 17,996,982 (GRCm39) |
V191A |
probably benign |
Het |
Mki67 |
C |
A |
7: 135,297,364 (GRCm39) |
A2557S |
possibly damaging |
Het |
Mkln1 |
A |
T |
6: 31,473,681 (GRCm39) |
H669L |
probably damaging |
Het |
Mrgprb3 |
A |
T |
7: 48,293,422 (GRCm39) |
V43E |
possibly damaging |
Het |
Mucl2 |
T |
A |
15: 103,927,860 (GRCm39) |
|
probably null |
Het |
Mybbp1a |
T |
A |
11: 72,337,076 (GRCm39) |
I604N |
probably benign |
Het |
Myo18b |
T |
C |
5: 112,841,164 (GRCm39) |
T2210A |
probably benign |
Het |
Nlrp4f |
T |
C |
13: 65,330,749 (GRCm39) |
I881M |
probably benign |
Het |
Obscn |
C |
A |
11: 58,943,442 (GRCm39) |
A4236S |
probably benign |
Het |
Or13a23-ps1 |
A |
T |
7: 140,119,038 (GRCm39) |
M203L |
unknown |
Het |
Or4a67 |
A |
C |
2: 88,598,630 (GRCm39) |
F10V |
possibly damaging |
Het |
Or8d1 |
A |
G |
9: 38,767,254 (GRCm39) |
K299E |
probably damaging |
Het |
Or8d2b |
G |
A |
9: 38,789,150 (GRCm39) |
R226H |
probably benign |
Het |
Phc3 |
T |
A |
3: 31,015,926 (GRCm39) |
Q83L |
possibly damaging |
Het |
Pira2 |
T |
C |
7: 3,845,070 (GRCm39) |
Y396C |
probably damaging |
Het |
Prss3 |
T |
A |
6: 41,353,872 (GRCm39) |
I24F |
probably damaging |
Het |
Psg21 |
T |
C |
7: 18,381,293 (GRCm39) |
N417D |
probably benign |
Het |
Ros1 |
G |
T |
10: 51,999,333 (GRCm39) |
R1206S |
probably benign |
Het |
Smg9 |
A |
T |
7: 24,120,055 (GRCm39) |
Q386L |
probably benign |
Het |
Sncb |
T |
A |
13: 54,907,772 (GRCm39) |
|
probably null |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Sorl1 |
T |
A |
9: 41,957,848 (GRCm39) |
I599F |
probably damaging |
Het |
Sox6 |
C |
A |
7: 115,076,218 (GRCm39) |
E807* |
probably null |
Het |
Ssu2 |
G |
A |
6: 112,360,898 (GRCm39) |
A53V |
probably benign |
Het |
Tas2r123 |
T |
C |
6: 132,824,333 (GRCm39) |
C77R |
probably benign |
Het |
Tcta |
T |
C |
9: 108,181,333 (GRCm39) |
R117G |
unknown |
Het |
Tiam1 |
G |
A |
16: 89,609,894 (GRCm39) |
A1038V |
probably damaging |
Het |
Tram2 |
A |
T |
1: 21,074,273 (GRCm39) |
|
probably benign |
Het |
Tsku |
C |
A |
7: 98,001,704 (GRCm39) |
R209L |
probably damaging |
Het |
Twnk |
T |
C |
19: 45,000,149 (GRCm39) |
F622L |
probably damaging |
Het |
Ube2t |
C |
T |
1: 134,899,670 (GRCm39) |
T106I |
probably damaging |
Het |
Usf1 |
C |
T |
1: 171,245,352 (GRCm39) |
R255W |
probably damaging |
Het |
Usp28 |
T |
A |
9: 48,949,124 (GRCm39) |
L906Q |
probably null |
Het |
Vmn2r31 |
T |
A |
7: 7,399,654 (GRCm39) |
Y101F |
probably benign |
Het |
Vmn2r42 |
A |
G |
7: 8,187,331 (GRCm39) |
S814P |
probably damaging |
Het |
Wnt2b |
T |
C |
3: 104,858,475 (GRCm39) |
R265G |
possibly damaging |
Het |
Zfp62 |
T |
G |
11: 49,106,892 (GRCm39) |
S328A |
possibly damaging |
Het |
Zfp974 |
T |
C |
7: 27,610,589 (GRCm39) |
I379V |
probably benign |
Het |
Zmynd15 |
T |
C |
11: 70,355,065 (GRCm39) |
V484A |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,791,499 (GRCm39) |
L2201P |
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 |
|
R8403:Cpsf1
|
UTSW |
15 |
76,484,483 (GRCm39) |
missense |
probably damaging |
0.96 |
R8968:Cpsf1
|
UTSW |
15 |
76,486,169 (GRCm39) |
nonsense |
probably null |
|
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'- CACAGGAAGATCTGTAGGGC -3'
(R):5'- AAAGGGCTATGTGGCTGCTG -3'
Sequencing Primer
(F):5'- TCTGTAGGGCAGGAGGC -3'
(R):5'- CTATGTGGCTGCTGGGACC -3'
|
Posted On |
2021-10-11 |