Incidental Mutation 'IGL01599:Cpsf1'
ID |
92055 |
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 # |
IGL01599
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
76480003-76491791 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76480741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 1295
(L1295P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071898]
[ENSMUST00000160784]
[ENSMUST00000161612]
[ENSMUST00000162503]
[ENSMUST00000161732]
[ENSMUST00000230157]
[ENSMUST00000231042]
|
AlphaFold |
Q9EPU4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071898
AA Change: L1295P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000071794 Gene: ENSMUSG00000034022 AA Change: L1295P
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: ENSMUST00000159005
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159049
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159949
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160094
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162254
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161311
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161783
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229007
|
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: ENSMUST00000229287
|
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 |
noncoding transcript
Transcript: ENSMUST00000229269
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229367
|
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 damaging
Transcript: ENSMUST00000230157
AA Change: L1295P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230081
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231042
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230903
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230822
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229504
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230149
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231037
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231009
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229437
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr3 |
T |
C |
1: 90,141,856 (GRCm39) |
V105A |
probably benign |
Het |
Acr |
T |
C |
15: 89,452,617 (GRCm39) |
V18A |
probably benign |
Het |
Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
Aldh16a1 |
A |
G |
7: 44,791,517 (GRCm39) |
F753L |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,629,191 (GRCm39) |
Y338N |
probably benign |
Het |
Aox3 |
C |
T |
1: 58,208,953 (GRCm39) |
R829C |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,644,353 (GRCm39) |
S1535P |
probably benign |
Het |
C4b |
A |
G |
17: 34,961,993 (GRCm39) |
|
probably benign |
Het |
Ccdc157 |
A |
G |
11: 4,098,781 (GRCm39) |
C242R |
probably damaging |
Het |
Cep135 |
T |
A |
5: 76,741,194 (GRCm39) |
M90K |
possibly damaging |
Het |
Cfap36 |
A |
T |
11: 29,194,057 (GRCm39) |
|
probably null |
Het |
Chl1 |
A |
G |
6: 103,685,445 (GRCm39) |
T829A |
probably benign |
Het |
Copb2 |
T |
C |
9: 98,463,203 (GRCm39) |
S473P |
probably damaging |
Het |
Cpb1 |
C |
T |
3: 20,306,118 (GRCm39) |
|
probably null |
Het |
Dmp1 |
C |
T |
5: 104,360,328 (GRCm39) |
Q335* |
probably null |
Het |
Dyrk1a |
T |
A |
16: 94,492,743 (GRCm39) |
S621T |
possibly damaging |
Het |
Exoc5 |
T |
A |
14: 49,272,421 (GRCm39) |
Q331L |
probably benign |
Het |
Fmnl1 |
G |
A |
11: 103,077,482 (GRCm39) |
V287M |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,857,750 (GRCm39) |
S2015P |
possibly damaging |
Het |
Gm7052 |
T |
C |
17: 22,258,985 (GRCm39) |
|
probably benign |
Het |
Gprc5c |
A |
G |
11: 114,755,078 (GRCm39) |
I252V |
probably benign |
Het |
Ints3 |
C |
T |
3: 90,301,629 (GRCm39) |
|
probably null |
Het |
L1td1 |
A |
G |
4: 98,625,581 (GRCm39) |
D592G |
probably damaging |
Het |
Lamb3 |
A |
G |
1: 193,025,720 (GRCm39) |
M1137V |
probably benign |
Het |
Leng8 |
C |
A |
7: 4,148,481 (GRCm39) |
A751E |
probably benign |
Het |
Lfng |
T |
C |
5: 140,598,290 (GRCm39) |
V204A |
probably damaging |
Het |
Lsm14b |
A |
G |
2: 179,674,396 (GRCm39) |
D233G |
probably damaging |
Het |
Map4 |
C |
T |
9: 109,863,836 (GRCm39) |
P354S |
probably benign |
Het |
Mapt |
G |
A |
11: 104,185,741 (GRCm39) |
V53M |
probably damaging |
Het |
Mier1 |
T |
G |
4: 103,012,738 (GRCm39) |
S377A |
possibly damaging |
Het |
Neurog1 |
T |
C |
13: 56,399,660 (GRCm39) |
D29G |
probably damaging |
Het |
Npr3 |
G |
A |
15: 11,895,875 (GRCm39) |
A257V |
probably damaging |
Het |
Nup188 |
T |
C |
2: 30,217,537 (GRCm39) |
V824A |
possibly damaging |
Het |
Olfm4 |
T |
C |
14: 80,258,750 (GRCm39) |
S333P |
probably damaging |
Het |
Or7g30 |
T |
G |
9: 19,353,111 (GRCm39) |
F301V |
probably benign |
Het |
Or9a4 |
A |
C |
6: 40,549,186 (GRCm39) |
I289L |
probably damaging |
Het |
Pbxip1 |
C |
A |
3: 89,350,897 (GRCm39) |
|
probably benign |
Het |
Pde9a |
G |
T |
17: 31,633,124 (GRCm39) |
C38F |
probably damaging |
Het |
Plb1 |
A |
T |
5: 32,499,888 (GRCm39) |
|
probably benign |
Het |
Plcz1 |
T |
C |
6: 139,947,982 (GRCm39) |
|
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,939,672 (GRCm39) |
V1447A |
probably damaging |
Het |
Pnldc1 |
A |
T |
17: 13,125,415 (GRCm39) |
M73K |
probably benign |
Het |
Psg20 |
C |
T |
7: 18,414,963 (GRCm39) |
V311M |
possibly damaging |
Het |
Psmd2 |
G |
T |
16: 20,478,155 (GRCm39) |
|
probably null |
Het |
Rabgap1 |
T |
C |
2: 37,446,281 (GRCm39) |
V859A |
probably damaging |
Het |
Rad51b |
T |
A |
12: 79,374,002 (GRCm39) |
S194T |
probably benign |
Het |
Rb1cc1 |
C |
T |
1: 6,318,995 (GRCm39) |
Q788* |
probably null |
Het |
Ror2 |
C |
T |
13: 53,265,653 (GRCm39) |
G468R |
probably damaging |
Het |
Slamf7 |
A |
G |
1: 171,468,754 (GRCm39) |
I46T |
possibly damaging |
Het |
Stab2 |
A |
G |
10: 86,758,759 (GRCm39) |
S1060P |
probably damaging |
Het |
Syndig1 |
T |
A |
2: 149,845,203 (GRCm39) |
V242E |
probably damaging |
Het |
Tgfbr3 |
G |
A |
5: 107,266,317 (GRCm39) |
T801M |
probably damaging |
Het |
Tmem132c |
T |
C |
5: 127,436,616 (GRCm39) |
|
probably benign |
Het |
Trav21-dv12 |
T |
C |
14: 54,114,188 (GRCm39) |
Y103H |
probably damaging |
Het |
Tut4 |
T |
C |
4: 108,370,596 (GRCm39) |
S871P |
possibly damaging |
Het |
Ubr3 |
T |
C |
2: 69,768,522 (GRCm39) |
V443A |
probably damaging |
Het |
Uhrf2 |
G |
T |
19: 30,069,520 (GRCm39) |
C749F |
probably damaging |
Het |
Ulk2 |
G |
T |
11: 61,682,262 (GRCm39) |
S751* |
probably null |
Het |
Wrn |
G |
A |
8: 33,731,039 (GRCm39) |
P1098S |
possibly damaging |
Het |
Xrcc5 |
T |
C |
1: 72,385,508 (GRCm39) |
V533A |
possibly damaging |
Het |
Zc3h13 |
T |
C |
14: 75,547,163 (GRCm39) |
S223P |
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 |
|
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 |
|
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 |
2013-12-09 |