Incidental Mutation 'R1717:Cpsf1'
ID |
191161 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
MMRRC Submission |
039750-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R1717 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 76486766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 257
(S257T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
AlphaFold |
Q9EPU4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071898
AA Change: S257T
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: S257T
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 |
possibly damaging
Transcript: ENSMUST00000230157
AA Change: S257T
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231009
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229504
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229797
|
Meta Mutation Damage Score |
0.0922 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
98% (81/83) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4732465J04Rik |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT |
10: 95,629,641 (GRCm39) |
|
probably null |
Het |
4930583I09Rik |
T |
C |
17: 65,141,444 (GRCm39) |
N53S |
unknown |
Het |
4933434E20Rik |
T |
A |
3: 89,963,544 (GRCm39) |
S67T |
probably benign |
Het |
Abcc8 |
T |
C |
7: 45,765,239 (GRCm39) |
I1127V |
possibly damaging |
Het |
Abcg3 |
G |
A |
5: 105,111,421 (GRCm39) |
Q349* |
probably null |
Het |
Adam2 |
A |
G |
14: 66,306,007 (GRCm39) |
L158P |
probably damaging |
Het |
Agrn |
GCTCT |
GCTCTCT |
4: 156,250,976 (GRCm39) |
|
probably null |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Akap11 |
C |
A |
14: 78,750,788 (GRCm39) |
S533I |
probably benign |
Het |
Aldh1a2 |
A |
T |
9: 71,200,953 (GRCm39) |
N517I |
probably damaging |
Het |
Aldh4a1 |
A |
T |
4: 139,365,840 (GRCm39) |
H277L |
possibly damaging |
Het |
Aldh4a1 |
G |
A |
4: 139,361,305 (GRCm39) |
|
probably null |
Het |
Ankrd27 |
A |
G |
7: 35,327,871 (GRCm39) |
D742G |
possibly damaging |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Arhgef7 |
C |
A |
8: 11,858,712 (GRCm39) |
|
probably benign |
Het |
Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
Armh4 |
T |
C |
14: 49,989,121 (GRCm39) |
D616G |
probably damaging |
Het |
Arvcf |
A |
G |
16: 18,220,319 (GRCm39) |
K568E |
possibly damaging |
Het |
Atp8b3 |
G |
A |
10: 80,364,631 (GRCm39) |
R521W |
probably damaging |
Het |
Casp16 |
A |
G |
17: 23,771,024 (GRCm39) |
I127T |
possibly damaging |
Het |
Cd163 |
A |
G |
6: 124,306,547 (GRCm39) |
|
probably benign |
Het |
Cdh8 |
A |
T |
8: 99,757,337 (GRCm39) |
S754T |
probably damaging |
Het |
Cel |
A |
G |
2: 28,446,789 (GRCm39) |
Y461H |
probably damaging |
Het |
Chmp4b |
A |
G |
2: 154,499,240 (GRCm39) |
I47V |
possibly damaging |
Het |
Col1a1 |
A |
G |
11: 94,839,218 (GRCm39) |
M989V |
unknown |
Het |
Csmd1 |
A |
T |
8: 17,266,708 (GRCm39) |
S73T |
possibly damaging |
Het |
Csnk2a2 |
T |
C |
8: 96,182,436 (GRCm39) |
|
probably null |
Het |
Dact2 |
A |
T |
17: 14,418,175 (GRCm39) |
W177R |
probably benign |
Het |
Ddx10 |
A |
G |
9: 53,071,253 (GRCm39) |
V680A |
probably benign |
Het |
Eif5 |
T |
A |
12: 111,508,651 (GRCm39) |
D215E |
probably benign |
Het |
Evpl |
C |
T |
11: 116,116,318 (GRCm39) |
A817T |
probably benign |
Het |
Fmo6 |
T |
A |
1: 162,753,821 (GRCm39) |
R131* |
probably null |
Het |
Fsd2 |
T |
C |
7: 81,184,857 (GRCm39) |
T680A |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,805,289 (GRCm39) |
V536A |
possibly damaging |
Het |
Fzd8 |
T |
C |
18: 9,214,364 (GRCm39) |
F482S |
probably damaging |
Het |
Gabrb1 |
A |
T |
5: 72,265,694 (GRCm39) |
|
probably null |
Het |
Galnt9 |
T |
G |
5: 110,744,078 (GRCm39) |
I304S |
probably benign |
Het |
Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
Gm5334 |
A |
C |
7: 68,268,725 (GRCm39) |
|
noncoding transcript |
Het |
Grcc10 |
A |
T |
6: 124,717,476 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,734,937 (GRCm39) |
T192A |
probably damaging |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Irgm2 |
T |
A |
11: 58,111,461 (GRCm39) |
L396Q |
probably damaging |
Het |
Ksr2 |
T |
A |
5: 117,809,514 (GRCm39) |
C426S |
probably damaging |
Het |
Lair1 |
A |
G |
7: 4,013,788 (GRCm39) |
F153S |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,392,138 (GRCm39) |
H2835R |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,399,534 (GRCm39) |
T2325A |
probably damaging |
Het |
Lrrd1 |
T |
C |
5: 3,900,580 (GRCm39) |
F295S |
probably damaging |
Het |
Meis1 |
T |
A |
11: 18,960,608 (GRCm39) |
|
probably benign |
Het |
Mkln1 |
T |
A |
6: 31,484,579 (GRCm39) |
I156K |
probably benign |
Het |
Mmd2 |
T |
C |
5: 142,561,105 (GRCm39) |
|
probably benign |
Het |
Morc1 |
A |
G |
16: 48,272,840 (GRCm39) |
I156V |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,753,405 (GRCm38) |
T1094A |
possibly damaging |
Het |
Nckap1 |
A |
G |
2: 80,343,014 (GRCm39) |
|
probably benign |
Het |
Neb |
A |
G |
2: 52,198,759 (GRCm39) |
I394T |
possibly damaging |
Het |
Or12e1 |
A |
T |
2: 87,022,247 (GRCm39) |
N72I |
probably benign |
Het |
Or2t49 |
T |
A |
11: 58,392,885 (GRCm39) |
M166L |
probably benign |
Het |
Or4e2 |
T |
C |
14: 52,688,296 (GRCm39) |
V142A |
probably benign |
Het |
Or5as1 |
A |
T |
2: 86,980,150 (GRCm39) |
L285* |
probably null |
Het |
Or8d1b |
C |
T |
9: 38,887,706 (GRCm39) |
L245F |
probably damaging |
Het |
Pcdha1 |
T |
C |
18: 37,065,237 (GRCm39) |
S634P |
probably benign |
Het |
Pcdhb12 |
T |
A |
18: 37,569,841 (GRCm39) |
V329E |
probably damaging |
Het |
Pcf11 |
A |
T |
7: 92,312,793 (GRCm39) |
D193E |
probably benign |
Het |
Pcsk1 |
G |
C |
13: 75,258,947 (GRCm39) |
M240I |
probably damaging |
Het |
Pdc |
T |
A |
1: 150,208,892 (GRCm39) |
I125N |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,082,729 (GRCm39) |
G564S |
probably benign |
Het |
Rasgrf1 |
G |
T |
9: 89,835,966 (GRCm39) |
Q231H |
probably damaging |
Het |
Riok1 |
T |
A |
13: 38,236,926 (GRCm39) |
I389N |
probably damaging |
Het |
Ror1 |
T |
A |
4: 100,160,135 (GRCm39) |
S50R |
probably benign |
Het |
Samd13 |
T |
C |
3: 146,352,070 (GRCm39) |
T75A |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,915,876 (GRCm39) |
H1329Y |
possibly damaging |
Het |
Siglec1 |
T |
C |
2: 130,925,932 (GRCm39) |
N258S |
probably damaging |
Het |
Slbp |
G |
A |
5: 33,802,946 (GRCm39) |
A126V |
probably benign |
Het |
Slc12a4 |
A |
T |
8: 106,674,203 (GRCm39) |
|
probably null |
Het |
Specc1 |
A |
G |
11: 62,019,218 (GRCm39) |
I686V |
possibly damaging |
Het |
Synpo2 |
C |
A |
3: 122,906,203 (GRCm39) |
V1038F |
probably damaging |
Het |
Tbk1 |
G |
A |
10: 121,397,550 (GRCm39) |
T374I |
probably benign |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Tmem190 |
T |
C |
7: 4,787,132 (GRCm39) |
L112P |
probably damaging |
Het |
Tsc2 |
C |
T |
17: 24,816,042 (GRCm39) |
R1715Q |
probably damaging |
Het |
Ulbp3 |
A |
T |
10: 3,075,050 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r46 |
T |
C |
6: 89,953,811 (GRCm39) |
L220P |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,392,609 (GRCm39) |
Q816R |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,468,164 (GRCm39) |
I2799T |
probably benign |
Het |
Zfp105 |
T |
C |
9: 122,759,696 (GRCm39) |
S456P |
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 |
|
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 |
|
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'- GAGTTGACAGCGAAGATCACTACCC -3'
(R):5'- TTCCTGCATGGCTACTATGAGCCC -3'
Sequencing Primer
(F):5'- TACCCCACCTGGAGGTAGAC -3'
(R):5'- ACGTGCTCCATTGTGGCTA -3'
|
Posted On |
2014-05-14 |