Incidental Mutation 'R3879:Pcif1'
ID |
308667 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcif1
|
Ensembl Gene |
ENSMUSG00000039849 |
Gene Name |
phosphorylated CTD interacting factor 1 |
Synonyms |
F730014I05Rik, 2310022K11Rik |
MMRRC Submission |
040793-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.202)
|
Stock # |
R3879 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
164721288-164733360 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 164727878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 189
(G189D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039555
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041643]
|
AlphaFold |
P59114 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041643
AA Change: G189D
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000039555 Gene: ENSMUSG00000039849 AA Change: G189D
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
95% (38/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
T |
C |
3: 89,970,561 (GRCm39) |
|
probably benign |
Het |
Aass |
G |
A |
6: 23,122,520 (GRCm39) |
H68Y |
probably damaging |
Het |
Abcc8 |
T |
A |
7: 45,754,051 (GRCm39) |
K1588N |
possibly damaging |
Het |
Calcoco1 |
T |
C |
15: 102,615,823 (GRCm39) |
D601G |
probably damaging |
Het |
Ccdc175 |
C |
A |
12: 72,182,792 (GRCm39) |
R409I |
probably damaging |
Het |
Ccnl1 |
A |
G |
3: 65,856,179 (GRCm39) |
V242A |
possibly damaging |
Het |
Clasp2 |
T |
C |
9: 113,719,029 (GRCm39) |
F705L |
probably damaging |
Het |
Cyp46a1 |
A |
G |
12: 108,324,389 (GRCm39) |
T389A |
probably benign |
Het |
Eps8 |
A |
G |
6: 137,504,360 (GRCm39) |
|
probably benign |
Het |
Gm9894 |
T |
C |
13: 67,912,916 (GRCm39) |
|
noncoding transcript |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Nup153 |
A |
T |
13: 46,837,436 (GRCm39) |
V1262E |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,092,780 (GRCm39) |
T1245A |
probably damaging |
Het |
Or10ad1b |
C |
T |
15: 98,125,085 (GRCm39) |
C147Y |
probably damaging |
Het |
Or5b121 |
A |
G |
19: 13,507,613 (GRCm39) |
Y236C |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,375,594 (GRCm39) |
S1514P |
probably damaging |
Het |
Pigu |
A |
T |
2: 155,141,063 (GRCm39) |
F276I |
probably damaging |
Het |
Pramex1 |
T |
C |
X: 134,514,194 (GRCm39) |
H365R |
probably benign |
Het |
Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
Rasgrp2 |
A |
T |
19: 6,463,920 (GRCm39) |
Q539H |
probably benign |
Het |
Rgs22 |
T |
G |
15: 36,107,051 (GRCm39) |
I112L |
possibly damaging |
Het |
Slc26a9 |
A |
T |
1: 131,696,969 (GRCm39) |
T786S |
probably benign |
Het |
Sned1 |
A |
G |
1: 93,192,752 (GRCm39) |
|
probably benign |
Het |
St7l |
G |
A |
3: 104,833,763 (GRCm39) |
V475I |
probably damaging |
Het |
Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,634,765 (GRCm39) |
V713A |
possibly damaging |
Het |
Trim16 |
G |
A |
11: 62,731,433 (GRCm39) |
G348S |
probably damaging |
Het |
Tshz3 |
C |
T |
7: 36,470,962 (GRCm39) |
Q984* |
probably null |
Het |
Ttn |
A |
G |
2: 76,566,406 (GRCm39) |
|
probably null |
Het |
Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
Zfp37 |
A |
T |
4: 62,109,572 (GRCm39) |
Y497* |
probably null |
Het |
Zfp462 |
G |
A |
4: 55,060,095 (GRCm39) |
C1207Y |
probably damaging |
Het |
Zfp607b |
A |
G |
7: 27,403,476 (GRCm39) |
E644G |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGGTTCATCCACTGAAGATAAAC -3'
(R):5'- TCTGGTTTCCCACAGCACAC -3'
Sequencing Primer
(F):5'- TGAAGATAAACAGGCAGCTCTC -3'
(R):5'- ACACACTGAGGGCCACAGG -3'
|
Posted On |
2015-04-17 |