Incidental Mutation 'R0313:Pcif1'
ID |
25319 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcif1
|
Ensembl Gene |
ENSMUSG00000039849 |
Gene Name |
phosphorylated CTD interacting factor 1 |
Synonyms |
F730014I05Rik, 2310022K11Rik |
MMRRC Submission |
038523-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.202)
|
Stock # |
R0313 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
164721288-164733360 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 164726339 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 80
(H80L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039555
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041643]
|
AlphaFold |
P59114 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041643
AA Change: H80L
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000039555 Gene: ENSMUSG00000039849 AA Change: H80L
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 |
0.1258 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.9%
- 20x: 88.5%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg2 |
A |
G |
6: 58,649,082 (GRCm39) |
E309G |
probably benign |
Het |
Ankmy1 |
C |
T |
1: 92,813,943 (GRCm39) |
G412D |
probably damaging |
Het |
Cc2d1a |
G |
A |
8: 84,863,598 (GRCm39) |
T542I |
probably benign |
Het |
Cldn18 |
T |
C |
9: 99,580,967 (GRCm39) |
I94V |
probably benign |
Het |
Cobll1 |
G |
A |
2: 64,926,088 (GRCm39) |
R1195* |
probably null |
Het |
Dnah7b |
A |
G |
1: 46,246,803 (GRCm39) |
T1660A |
probably damaging |
Het |
Dzip3 |
G |
T |
16: 48,757,424 (GRCm39) |
Q870K |
probably damaging |
Het |
Ebf4 |
T |
C |
2: 130,148,707 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
G |
4: 58,811,892 (GRCm39) |
I1411T |
probably benign |
Het |
Esyt2 |
T |
C |
12: 116,311,428 (GRCm39) |
L439P |
probably damaging |
Het |
Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
Haspin |
A |
G |
11: 73,027,124 (GRCm39) |
V655A |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,549,928 (GRCm39) |
E1351G |
probably damaging |
Het |
Lama2 |
C |
A |
10: 26,869,394 (GRCm39) |
|
probably null |
Het |
Lcp1 |
A |
G |
14: 75,436,873 (GRCm39) |
E73G |
probably damaging |
Het |
Ltv1 |
C |
T |
10: 13,058,604 (GRCm39) |
|
probably null |
Het |
Mcmdc2 |
A |
G |
1: 10,002,366 (GRCm39) |
Y529C |
probably damaging |
Het |
Myo3b |
T |
A |
2: 70,179,303 (GRCm39) |
Y1172* |
probably null |
Het |
Ncf1 |
T |
C |
5: 134,258,421 (GRCm39) |
M1V |
probably null |
Het |
Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
Or6c8b |
A |
G |
10: 128,882,695 (GRCm39) |
V79A |
possibly damaging |
Het |
Or8c10 |
T |
C |
9: 38,279,600 (GRCm39) |
S243P |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,728,887 (GRCm39) |
|
probably benign |
Het |
Polr2a |
T |
C |
11: 69,625,906 (GRCm39) |
Y1710C |
unknown |
Het |
Ppp1r37 |
G |
A |
7: 19,267,923 (GRCm39) |
T324I |
probably damaging |
Het |
Prmt1 |
T |
C |
7: 44,628,172 (GRCm39) |
D176G |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,363,637 (GRCm39) |
D501G |
probably damaging |
Het |
Ska2 |
A |
G |
11: 87,008,640 (GRCm39) |
I89M |
possibly damaging |
Het |
Slc39a7 |
G |
A |
17: 34,248,518 (GRCm39) |
A375V |
probably damaging |
Het |
Ssrp1 |
T |
A |
2: 84,871,898 (GRCm39) |
I374N |
probably damaging |
Het |
Stox2 |
C |
T |
8: 47,645,169 (GRCm39) |
G828R |
probably damaging |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Uqcrc1 |
C |
A |
9: 108,777,642 (GRCm39) |
R114S |
possibly damaging |
Het |
Usp38 |
A |
T |
8: 81,711,071 (GRCm39) |
L988* |
probably null |
Het |
Vmn2r5 |
T |
A |
3: 64,411,248 (GRCm39) |
H440L |
probably benign |
Het |
Wdr12 |
A |
T |
1: 60,121,738 (GRCm39) |
I271N |
possibly damaging |
Het |
Xylt2 |
C |
T |
11: 94,560,720 (GRCm39) |
|
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTCTCCAAAGCCAGTTCGCC -3'
(R):5'- CTGTCTGCCACAGAACAAGCCTATC -3'
Sequencing Primer
(F):5'- TACAGGACCTTCCAGGTACTG -3'
(R):5'- GCCTATCATAGAGACAGGGAGC -3'
|
Posted On |
2013-04-16 |