Incidental Mutation 'R2847:Cpsf1'
ID |
251765 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
040440-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R2847 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 76487051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 209
(L209Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
AlphaFold |
Q9EPU4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071898
AA Change: L209Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: L209Q
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 |
noncoding transcript
Transcript: ENSMUST00000229015
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229269
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229367
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229447
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230157
AA Change: L209Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229797
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229504
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930510E17Rik |
T |
C |
9: 53,176,089 (GRCm39) |
|
noncoding transcript |
Het |
Abca13 |
T |
C |
11: 9,244,584 (GRCm39) |
V2149A |
possibly damaging |
Het |
Abca8a |
T |
C |
11: 109,932,931 (GRCm39) |
D1231G |
probably damaging |
Het |
Adgrf5 |
C |
A |
17: 43,733,531 (GRCm39) |
N118K |
possibly damaging |
Het |
Atxn1 |
A |
T |
13: 45,720,175 (GRCm39) |
D573E |
probably damaging |
Het |
Bub3 |
C |
T |
7: 131,172,613 (GRCm39) |
T326M |
possibly damaging |
Het |
Cd151 |
T |
C |
7: 141,049,463 (GRCm39) |
Y57H |
probably damaging |
Het |
Cib4 |
T |
C |
5: 30,645,932 (GRCm39) |
N112S |
probably damaging |
Het |
Cntnap5c |
A |
T |
17: 58,183,387 (GRCm39) |
D31V |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,328,342 (GRCm39) |
L81P |
probably damaging |
Het |
Crocc |
G |
A |
4: 140,746,067 (GRCm39) |
A1684V |
probably damaging |
Het |
Cyp4f37 |
T |
A |
17: 32,848,099 (GRCm39) |
C206S |
probably damaging |
Het |
Defb39 |
C |
T |
8: 19,102,909 (GRCm39) |
R62H |
possibly damaging |
Het |
Dennd2b |
T |
C |
7: 109,124,544 (GRCm39) |
Q1099R |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,106,314 (GRCm39) |
K1756E |
probably benign |
Het |
Efcab12 |
A |
G |
6: 115,788,072 (GRCm39) |
I630T |
probably damaging |
Het |
Erc2 |
T |
C |
14: 27,762,445 (GRCm39) |
V736A |
probably damaging |
Het |
Fbf1 |
C |
T |
11: 116,048,514 (GRCm39) |
|
probably null |
Het |
Fndc9 |
C |
T |
11: 46,128,868 (GRCm39) |
A129V |
probably damaging |
Het |
Foxk2 |
CGGGGGG |
CGGGGGGGGG |
11: 121,151,317 (GRCm39) |
|
probably benign |
Het |
Gba2 |
T |
C |
4: 43,568,000 (GRCm39) |
|
probably null |
Het |
Gna12 |
T |
A |
5: 140,771,348 (GRCm39) |
D61V |
probably damaging |
Het |
Gpr37 |
C |
T |
6: 25,666,945 (GRCm39) |
|
probably benign |
Het |
Grin2a |
A |
G |
16: 9,579,829 (GRCm39) |
F145L |
possibly damaging |
Het |
Grin2b |
C |
A |
6: 135,717,951 (GRCm39) |
V714L |
probably damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Hmcn1 |
G |
T |
1: 150,439,350 (GRCm39) |
Y5494* |
probably null |
Het |
Htr4 |
T |
C |
18: 62,561,197 (GRCm39) |
S153P |
probably damaging |
Het |
Igkv9-120 |
T |
A |
6: 68,027,128 (GRCm39) |
|
probably benign |
Het |
Itgb6 |
T |
C |
2: 60,430,879 (GRCm39) |
T772A |
probably damaging |
Het |
Mgam |
C |
A |
6: 40,629,649 (GRCm39) |
A86E |
possibly damaging |
Het |
Mme |
T |
A |
3: 63,252,620 (GRCm39) |
N421K |
possibly damaging |
Het |
Mmp1b |
C |
T |
9: 7,370,763 (GRCm39) |
V331I |
probably benign |
Het |
Naa16 |
A |
G |
14: 79,573,323 (GRCm39) |
C816R |
probably damaging |
Het |
Nav1 |
G |
C |
1: 135,378,382 (GRCm39) |
|
probably null |
Het |
Nln |
A |
G |
13: 104,161,533 (GRCm39) |
M679T |
probably damaging |
Het |
Or1n1b |
A |
G |
2: 36,780,536 (GRCm39) |
L108P |
probably damaging |
Het |
Or8b53 |
C |
T |
9: 38,667,332 (GRCm39) |
T116I |
possibly damaging |
Het |
Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
Otop3 |
T |
C |
11: 115,235,384 (GRCm39) |
F339L |
probably damaging |
Het |
Pax7 |
T |
C |
4: 139,506,954 (GRCm39) |
D361G |
possibly damaging |
Het |
Peg10 |
C |
T |
6: 4,756,912 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
G |
T |
17: 84,905,394 (GRCm39) |
R1096L |
probably damaging |
Het |
Poteg |
A |
T |
8: 27,971,704 (GRCm39) |
N406I |
probably benign |
Het |
Rnf43 |
T |
A |
11: 87,623,093 (GRCm39) |
N731K |
probably benign |
Het |
Robo4 |
C |
T |
9: 37,315,772 (GRCm39) |
R342* |
probably null |
Het |
Sec23ip |
G |
A |
7: 128,355,797 (GRCm39) |
V307I |
probably benign |
Het |
Slc2a4 |
T |
A |
11: 69,836,997 (GRCm39) |
N116Y |
probably damaging |
Het |
Tas1r3 |
T |
A |
4: 155,944,659 (GRCm39) |
Q854L |
probably benign |
Het |
Tox3 |
G |
A |
8: 90,975,018 (GRCm39) |
Q538* |
probably null |
Het |
Trpm4 |
A |
G |
7: 44,960,022 (GRCm39) |
F771S |
probably damaging |
Het |
Tstd3 |
A |
T |
4: 21,759,375 (GRCm39) |
F132L |
possibly damaging |
Het |
Ulk2 |
T |
C |
11: 61,715,555 (GRCm39) |
|
probably null |
Het |
Unc13b |
T |
C |
4: 43,180,404 (GRCm39) |
Y3080H |
probably benign |
Het |
Utp25 |
A |
T |
1: 192,810,759 (GRCm39) |
N81K |
probably benign |
Het |
Vmn1r181 |
G |
T |
7: 23,683,943 (GRCm39) |
S136I |
possibly damaging |
Het |
Vmn2r114 |
A |
T |
17: 23,509,948 (GRCm39) |
M844K |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,785,857 (GRCm39) |
H220L |
probably benign |
Het |
Vps13a |
A |
G |
19: 16,680,963 (GRCm39) |
S1078P |
probably damaging |
Het |
Vwa8 |
G |
T |
14: 79,184,582 (GRCm39) |
R360L |
probably benign |
Het |
Xlr4b |
A |
T |
X: 72,258,938 (GRCm39) |
Q25L |
probably null |
Het |
Zdhhc22 |
T |
A |
12: 87,035,336 (GRCm39) |
T39S |
probably benign |
Het |
Zfp532 |
T |
A |
18: 65,789,697 (GRCm39) |
H1045Q |
possibly damaging |
Het |
Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (GRCm39) |
|
probably benign |
Het |
Zfp964 |
G |
C |
8: 70,116,504 (GRCm39) |
C368S |
unknown |
Het |
Zfp985 |
G |
A |
4: 147,667,468 (GRCm39) |
W112* |
probably null |
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 |
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 |
|
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'- ACAATGGAGCACGTGTCCTG -3'
(R):5'- CGAAGGGTGAGTACTAAGCC -3'
Sequencing Primer
(F):5'- CCAGAGGCAGTCACATTGCTC -3'
(R):5'- TGAGTACTAAGCCGAGCTGG -3'
|
Posted On |
2014-12-04 |