Incidental Mutation 'IGL01598:Pcif1'
| ID |
91745 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcif1
|
| Ensembl Gene |
ENSMUSG00000039849 |
| Gene Name |
phosphorylated CTD interacting factor 1 |
| Synonyms |
F730014I05Rik, 2310022K11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
IGL01598
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164721288-164733360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164728531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 263
(F263L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041643]
|
| AlphaFold |
P59114 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041643
AA Change: F263L
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039555
Gene: ENSMUSG00000039849
AA Change: F263L
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
44 |
77 |
4.34e-4 |
SMART |
|
low complexity region
|
132 |
148 |
N/A |
INTRINSIC |
|
Pfam:PCIF1_WW
|
445 |
620 |
7.1e-74 |
PFAM |
|
low complexity region
|
675 |
686 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130213
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145327
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410124H12Rik |
T |
A |
16: 92,275,817 (GRCm39) |
|
noncoding transcript |
Het |
| Apc2 |
T |
A |
10: 80,148,882 (GRCm39) |
L1283Q |
probably damaging |
Het |
| Apol6 |
G |
A |
15: 76,934,916 (GRCm39) |
A62T |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,212,110 (GRCm39) |
I204N |
possibly damaging |
Het |
| B4galnt4 |
G |
T |
7: 140,650,428 (GRCm39) |
R765L |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,415,156 (GRCm39) |
T993A |
probably benign |
Het |
| Cadps |
C |
T |
14: 12,522,202 (GRCm38) |
|
probably null |
Het |
| Ccdc177 |
A |
G |
12: 80,805,519 (GRCm39) |
S252P |
unknown |
Het |
| Cdc73 |
A |
G |
1: 143,575,017 (GRCm39) |
S59P |
probably damaging |
Het |
| Cep63 |
G |
T |
9: 102,467,657 (GRCm39) |
Q570K |
possibly damaging |
Het |
| Ces1c |
A |
T |
8: 93,845,041 (GRCm39) |
I120K |
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,011,549 (GRCm39) |
M131V |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,624,562 (GRCm39) |
V3701I |
probably damaging |
Het |
| Fxr1 |
T |
C |
3: 34,118,381 (GRCm39) |
S535P |
possibly damaging |
Het |
| Gldc |
A |
T |
19: 30,111,156 (GRCm39) |
V540D |
probably damaging |
Het |
| Iqcf6 |
A |
G |
9: 106,504,707 (GRCm39) |
T124A |
probably benign |
Het |
| Itih4 |
A |
G |
14: 30,609,774 (GRCm39) |
I35V |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,478,664 (GRCm39) |
*1525W |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,559,769 (GRCm39) |
V963E |
probably damaging |
Het |
| Lmnb2 |
T |
C |
10: 80,742,999 (GRCm39) |
S202G |
probably benign |
Het |
| Med23 |
T |
G |
10: 24,779,696 (GRCm39) |
S924R |
probably benign |
Het |
| Or5b102 |
T |
C |
19: 13,041,513 (GRCm39) |
V246A |
probably damaging |
Het |
| Pon2 |
A |
T |
6: 5,272,331 (GRCm39) |
L163H |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,132,829 (GRCm39) |
V165M |
possibly damaging |
Het |
| Sema6d |
C |
A |
2: 124,507,018 (GRCm39) |
P961Q |
probably damaging |
Het |
| Snx27 |
A |
G |
3: 94,469,150 (GRCm39) |
Y64H |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,717,672 (GRCm39) |
|
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,462,510 (GRCm39) |
V193A |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,408,017 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,743,471 (GRCm39) |
T4137A |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,283 (GRCm39) |
Y251C |
probably damaging |
Het |
|
| Other mutations in Pcif1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01161:Pcif1
|
APN |
2 |
164,727,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0313:Pcif1
|
UTSW |
2 |
164,726,339 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0329:Pcif1
|
UTSW |
2 |
164,731,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Pcif1
|
UTSW |
2 |
164,731,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1070:Pcif1
|
UTSW |
2 |
164,731,058 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1350:Pcif1
|
UTSW |
2 |
164,728,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1467:Pcif1
|
UTSW |
2 |
164,731,058 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1467:Pcif1
|
UTSW |
2 |
164,731,058 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1583:Pcif1
|
UTSW |
2 |
164,728,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1640:Pcif1
|
UTSW |
2 |
164,727,603 (GRCm39) |
missense |
probably benign |
|
|
R1852:Pcif1
|
UTSW |
2 |
164,730,386 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2252:Pcif1
|
UTSW |
2 |
164,732,799 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2571:Pcif1
|
UTSW |
2 |
164,726,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3879:Pcif1
|
UTSW |
2 |
164,727,878 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4956:Pcif1
|
UTSW |
2 |
164,731,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5792:Pcif1
|
UTSW |
2 |
164,727,299 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5913:Pcif1
|
UTSW |
2 |
164,726,412 (GRCm39) |
intron |
probably benign |
|
|
R6798:Pcif1
|
UTSW |
2 |
164,727,711 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6913:Pcif1
|
UTSW |
2 |
164,726,224 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7359:Pcif1
|
UTSW |
2 |
164,726,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Pcif1
|
UTSW |
2 |
164,731,550 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7453:Pcif1
|
UTSW |
2 |
164,730,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7917:Pcif1
|
UTSW |
2 |
164,730,392 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8031:Pcif1
|
UTSW |
2 |
164,728,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Pcif1
|
UTSW |
2 |
164,730,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8519:Pcif1
|
UTSW |
2 |
164,726,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8553:Pcif1
|
UTSW |
2 |
164,728,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8766:Pcif1
|
UTSW |
2 |
164,727,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation