Incidental Mutation 'IGL02008:Cpsf1'
ID |
183278 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cpsf1
|
Ensembl Gene |
ENSMUSG00000034022 |
Gene Name |
cleavage and polyadenylation specific factor 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
IGL02008
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 76487291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 161
(V161D)
|
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: V161D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: V161D
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: ENSMUST00000229437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229447
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229504
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230157
AA Change: V161D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229797
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230557
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
Coding Region Coverage |
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,969,750 (GRCm39) |
T2252A |
probably benign |
Het |
Abcc2 |
C |
T |
19: 43,810,189 (GRCm39) |
|
probably benign |
Het |
Abcf1 |
T |
C |
17: 36,272,954 (GRCm39) |
E231G |
probably benign |
Het |
Astn2 |
T |
C |
4: 65,977,390 (GRCm39) |
Y379C |
probably damaging |
Het |
Atp8b1 |
G |
T |
18: 64,671,766 (GRCm39) |
|
probably benign |
Het |
Atr |
T |
A |
9: 95,763,473 (GRCm39) |
|
probably benign |
Het |
Bdp1 |
A |
G |
13: 100,160,335 (GRCm39) |
S2349P |
possibly damaging |
Het |
Bmp2 |
T |
C |
2: 133,402,886 (GRCm39) |
S146P |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,692,885 (GRCm39) |
S218G |
probably null |
Het |
Cand2 |
T |
C |
6: 115,780,599 (GRCm39) |
V1161A |
probably damaging |
Het |
Clec16a |
T |
C |
16: 10,398,824 (GRCm39) |
V330A |
probably damaging |
Het |
Ctsh |
A |
G |
9: 89,943,600 (GRCm39) |
Y75C |
probably damaging |
Het |
Cyp26c1 |
C |
A |
19: 37,677,371 (GRCm39) |
L267M |
probably damaging |
Het |
Cyp26c1 |
T |
A |
19: 37,677,372 (GRCm39) |
L267Q |
probably damaging |
Het |
Cyp2c50 |
G |
A |
19: 40,079,543 (GRCm39) |
W212* |
probably null |
Het |
Dnah5 |
T |
A |
15: 28,343,698 (GRCm39) |
M2366K |
probably damaging |
Het |
Ermp1 |
A |
G |
19: 29,590,320 (GRCm39) |
M794T |
probably damaging |
Het |
F11 |
G |
T |
8: 45,703,132 (GRCm39) |
S186Y |
probably damaging |
Het |
Fam184b |
A |
T |
5: 45,690,165 (GRCm39) |
F815I |
possibly damaging |
Het |
Fezf2 |
T |
C |
14: 12,343,705 (GRCm38) |
I347V |
probably benign |
Het |
Fip1l1 |
C |
T |
5: 74,706,084 (GRCm39) |
T114I |
possibly damaging |
Het |
Gbp7 |
A |
C |
3: 142,252,211 (GRCm39) |
D598A |
probably benign |
Het |
Gm1110 |
T |
A |
9: 26,794,526 (GRCm39) |
D500V |
probably benign |
Het |
Gm3248 |
T |
A |
14: 5,943,928 (GRCm38) |
M99L |
probably benign |
Het |
Gpi-ps |
A |
T |
8: 5,689,896 (GRCm39) |
|
noncoding transcript |
Het |
Hspa9 |
G |
A |
18: 35,081,028 (GRCm39) |
R218* |
probably null |
Het |
Ikbip |
G |
A |
10: 90,929,119 (GRCm39) |
|
probably null |
Het |
Kcnb2 |
C |
T |
1: 15,781,033 (GRCm39) |
T635M |
probably benign |
Het |
Krtap29-1 |
T |
A |
11: 99,869,105 (GRCm39) |
I259F |
possibly damaging |
Het |
Lnpep |
T |
C |
17: 17,791,219 (GRCm39) |
T442A |
probably benign |
Het |
Mgat1 |
T |
A |
11: 49,151,562 (GRCm39) |
I15N |
probably damaging |
Het |
Nlrp9c |
A |
T |
7: 26,084,576 (GRCm39) |
S334R |
probably benign |
Het |
Notch2 |
A |
T |
3: 98,054,612 (GRCm39) |
D2425V |
probably damaging |
Het |
Ntn1 |
C |
T |
11: 68,104,089 (GRCm39) |
V520M |
probably damaging |
Het |
Or10d1b |
A |
G |
9: 39,613,549 (GRCm39) |
V172A |
probably damaging |
Het |
Or4p18 |
T |
A |
2: 88,232,421 (GRCm39) |
T286S |
possibly damaging |
Het |
Or5d39 |
A |
T |
2: 87,979,922 (GRCm39) |
V147E |
probably damaging |
Het |
Or6c3b |
T |
A |
10: 129,527,887 (GRCm39) |
T8S |
probably benign |
Het |
Or8g55 |
A |
T |
9: 39,784,781 (GRCm39) |
D70V |
probably damaging |
Het |
Or8k39 |
A |
C |
2: 86,563,521 (GRCm39) |
I145R |
possibly damaging |
Het |
Osr2 |
A |
G |
15: 35,302,138 (GRCm39) |
H246R |
probably damaging |
Het |
Papolg |
T |
C |
11: 23,829,898 (GRCm39) |
R224G |
probably damaging |
Het |
Pax6 |
T |
A |
2: 105,522,623 (GRCm39) |
|
probably null |
Het |
Pcyox1 |
A |
G |
6: 86,369,250 (GRCm39) |
V192A |
probably benign |
Het |
Phf1 |
C |
T |
17: 27,154,260 (GRCm39) |
A159V |
possibly damaging |
Het |
Ppfia4 |
G |
A |
1: 134,260,129 (GRCm39) |
R45W |
probably damaging |
Het |
Psmb9 |
T |
A |
17: 34,402,653 (GRCm39) |
K109M |
probably damaging |
Het |
Ptprt |
T |
A |
2: 161,769,593 (GRCm39) |
Y424F |
probably benign |
Het |
Ptrh2 |
A |
G |
11: 86,580,592 (GRCm39) |
I70V |
probably benign |
Het |
Rnf213 |
G |
A |
11: 119,309,135 (GRCm39) |
|
probably benign |
Het |
Rom1 |
T |
A |
19: 8,905,368 (GRCm39) |
I271F |
probably benign |
Het |
Satb2 |
T |
A |
1: 56,835,952 (GRCm39) |
D731V |
possibly damaging |
Het |
Serpinb7 |
G |
T |
1: 107,375,859 (GRCm39) |
G159V |
possibly damaging |
Het |
Slit1 |
T |
C |
19: 41,634,579 (GRCm39) |
I393V |
probably damaging |
Het |
Spata20 |
T |
A |
11: 94,374,289 (GRCm39) |
D327V |
probably damaging |
Het |
Spata31e3 |
G |
A |
13: 50,400,721 (GRCm39) |
P535L |
probably benign |
Het |
Spmap2l |
A |
T |
5: 77,208,605 (GRCm39) |
I378L |
probably benign |
Het |
Tbc1d32 |
G |
T |
10: 56,027,871 (GRCm39) |
Q744K |
possibly damaging |
Het |
Tmem108 |
G |
T |
9: 103,366,439 (GRCm39) |
N517K |
possibly damaging |
Het |
Trp63 |
T |
A |
16: 25,681,211 (GRCm39) |
N160K |
probably damaging |
Het |
Ttll5 |
T |
C |
12: 85,980,385 (GRCm39) |
S119P |
probably damaging |
Het |
Ubqln3 |
T |
A |
7: 103,791,523 (GRCm39) |
Q189L |
probably damaging |
Het |
Vwa5a |
G |
A |
9: 38,649,072 (GRCm39) |
R638H |
probably benign |
Het |
Wdr3 |
A |
G |
3: 100,058,298 (GRCm39) |
S436P |
probably damaging |
Het |
Zfp975 |
A |
T |
7: 42,312,215 (GRCm39) |
C133S |
probably damaging |
Het |
Zfp976 |
A |
T |
7: 42,263,656 (GRCm39) |
|
probably benign |
Het |
Zmiz1 |
A |
G |
14: 25,657,303 (GRCm39) |
M860V |
probably damaging |
Het |
Zscan4d |
T |
C |
7: 10,896,296 (GRCm39) |
E358G |
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 |
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 |
|
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 |
|
Posted On |
2014-05-07 |