Incidental Mutation 'IGL01161:Pcif1'
ID |
53425 |
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: 0.202)
|
Stock # |
IGL01161
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
164721288-164733360 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 164727708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 167
(L167H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039555
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041643]
|
AlphaFold |
P59114 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041643
AA Change: L167H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000039555 Gene: ENSMUSG00000039849 AA Change: L167H
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb2 |
T |
A |
2: 103,535,463 (GRCm39) |
D543E |
probably benign |
Het |
Acad9 |
A |
C |
3: 36,144,274 (GRCm39) |
N583T |
possibly damaging |
Het |
Arhgap5 |
G |
A |
12: 52,563,643 (GRCm39) |
V205M |
probably damaging |
Het |
Arid1b |
G |
A |
17: 5,392,674 (GRCm39) |
R2068Q |
probably damaging |
Het |
Bex3 |
T |
C |
X: 135,172,218 (GRCm39) |
F60S |
probably damaging |
Het |
Casd1 |
C |
T |
6: 4,619,833 (GRCm39) |
P193S |
possibly damaging |
Het |
Ceacam11 |
A |
T |
7: 17,712,435 (GRCm39) |
I295F |
possibly damaging |
Het |
Ceacam3 |
T |
A |
7: 16,885,782 (GRCm39) |
N128K |
probably benign |
Het |
Cyp1a2 |
C |
T |
9: 57,587,176 (GRCm39) |
E372K |
probably damaging |
Het |
Ddb1 |
T |
G |
19: 10,583,071 (GRCm39) |
M1R |
probably null |
Het |
Ecel1 |
T |
C |
1: 87,080,915 (GRCm39) |
D329G |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,175,017 (GRCm39) |
N1899D |
probably benign |
Het |
Gli3 |
A |
G |
13: 15,722,983 (GRCm39) |
|
probably null |
Het |
Gm20507 |
A |
T |
17: 33,863,727 (GRCm39) |
|
probably benign |
Het |
Gml |
T |
G |
15: 74,685,688 (GRCm39) |
Y99S |
probably damaging |
Het |
Gpr119 |
G |
T |
X: 47,762,125 (GRCm39) |
|
probably benign |
Het |
Hcn1 |
T |
C |
13: 117,793,458 (GRCm39) |
Y237H |
unknown |
Het |
Hook2 |
G |
A |
8: 85,721,560 (GRCm39) |
V273I |
probably benign |
Het |
Il12rb2 |
T |
C |
6: 67,338,849 (GRCm39) |
|
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,369,279 (GRCm39) |
F1112S |
probably benign |
Het |
Lpl |
A |
T |
8: 69,345,277 (GRCm39) |
K94* |
probably null |
Het |
Lrrc8a |
T |
A |
2: 30,145,822 (GRCm39) |
L212Q |
probably damaging |
Het |
Me2 |
A |
T |
18: 73,903,887 (GRCm39) |
|
probably benign |
Het |
Mmp11 |
A |
T |
10: 75,762,655 (GRCm39) |
M266K |
probably benign |
Het |
Mprip |
T |
A |
11: 59,622,399 (GRCm39) |
V162E |
possibly damaging |
Het |
Nsf |
C |
T |
11: 103,752,711 (GRCm39) |
|
probably benign |
Het |
Or56b2 |
T |
C |
7: 104,337,588 (GRCm39) |
V122A |
probably benign |
Het |
Reps1 |
T |
C |
10: 17,969,643 (GRCm39) |
S249P |
probably damaging |
Het |
Sdf4 |
T |
A |
4: 156,093,763 (GRCm39) |
M299K |
probably benign |
Het |
Slc30a7 |
A |
G |
3: 115,747,759 (GRCm39) |
V344A |
possibly damaging |
Het |
Svep1 |
G |
A |
4: 58,146,569 (GRCm39) |
P358S |
probably damaging |
Het |
Syt9 |
G |
T |
7: 107,024,356 (GRCm39) |
R83L |
probably damaging |
Het |
Tbc1d15 |
T |
C |
10: 115,038,435 (GRCm39) |
I593V |
probably benign |
Het |
Trio |
T |
A |
15: 27,749,867 (GRCm39) |
N1134I |
probably damaging |
Het |
Trpv3 |
A |
G |
11: 73,187,544 (GRCm39) |
|
probably benign |
Het |
Ugp2 |
T |
A |
11: 21,273,273 (GRCm39) |
I449L |
possibly damaging |
Het |
Usp24 |
C |
A |
4: 106,294,041 (GRCm39) |
H2595N |
probably benign |
Het |
Vat1l |
A |
G |
8: 115,096,629 (GRCm39) |
N370S |
possibly damaging |
Het |
Wwc1 |
C |
A |
11: 35,758,103 (GRCm39) |
D748Y |
probably damaging |
Het |
Zfyve9 |
G |
A |
4: 108,538,261 (GRCm39) |
H1002Y |
probably damaging |
Het |
|
Other mutations in Pcif1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01598:Pcif1
|
APN |
2 |
164,728,531 (GRCm39) |
missense |
possibly damaging |
0.86 |
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 |
2013-06-28 |