Incidental Mutation 'R1070:Pcif1'
| ID |
86152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcif1
|
| Ensembl Gene |
ENSMUSG00000039849 |
| Gene Name |
phosphorylated CTD interacting factor 1 |
| Synonyms |
F730014I05Rik, 2310022K11Rik |
| MMRRC Submission |
039156-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R1070 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
164721288-164733360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 164731058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 404
(Y404H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041361]
[ENSMUST00000041643]
[ENSMUST00000183830]
|
| AlphaFold |
P59114 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041361
|
| SMART Domains |
Protein: ENSMUSP00000038298
Gene: ENSMUSG00000039834
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
248 |
271 |
4.24e-4 |
SMART |
|
low complexity region
|
275 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
445 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
466 |
488 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
563 |
585 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
591 |
613 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
622 |
644 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
650 |
673 |
8.22e-2 |
SMART |
|
ZnF_C2H2
|
679 |
702 |
3.29e-1 |
SMART |
|
low complexity region
|
711 |
726 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
770 |
937 |
7.16e-5 |
PROSPERO |
|
low complexity region
|
1005 |
1015 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1019 |
1041 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
1047 |
1069 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
1075 |
1097 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
1103 |
1126 |
3.34e-2 |
SMART |
|
low complexity region
|
1288 |
1305 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041643
AA Change: Y404H
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000039555
Gene: ENSMUSG00000039849
AA Change: Y404H
| 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: ENSMUST00000130213
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183830
|
| SMART Domains |
Protein: ENSMUSP00000139133
Gene: ENSMUSG00000039834
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
52 |
63 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
248 |
271 |
4.24e-4 |
SMART |
|
low complexity region
|
275 |
282 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
445 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
466 |
488 |
2.17e-1 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
563 |
585 |
2.79e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.1348 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,263 (GRCm39) |
D1367G |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,053,491 (GRCm39) |
|
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,369,912 (GRCm39) |
N231K |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,517,009 (GRCm39) |
S517P |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,131,499 (GRCm39) |
|
probably benign |
Het |
| Bptf |
G |
T |
11: 106,945,881 (GRCm39) |
Q2453K |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Heatr4 |
T |
C |
12: 84,024,841 (GRCm39) |
T327A |
possibly damaging |
Het |
| Hes1 |
T |
C |
16: 29,886,101 (GRCm39) |
I235T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,565,341 (GRCm39) |
D2262V |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,610 (GRCm39) |
A255V |
probably damaging |
Het |
| Inhbe |
T |
C |
10: 127,187,382 (GRCm39) |
I11M |
probably benign |
Het |
| Ipo9 |
T |
C |
1: 135,334,281 (GRCm39) |
E315G |
possibly damaging |
Het |
| Itih1 |
G |
T |
14: 30,664,413 (GRCm39) |
|
probably benign |
Het |
| Kcnk2 |
A |
G |
1: 188,988,960 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
A |
4: 74,291,865 (GRCm39) |
Y827* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,275 (GRCm39) |
T220A |
probably benign |
Het |
| Krt78 |
A |
G |
15: 101,854,728 (GRCm39) |
Y1028H |
possibly damaging |
Het |
| Ldc1 |
T |
C |
4: 130,112,949 (GRCm39) |
E149G |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,908,801 (GRCm39) |
D333G |
probably benign |
Het |
| Net1 |
A |
T |
13: 3,962,930 (GRCm39) |
S45T |
probably benign |
Het |
| Npat |
T |
A |
9: 53,483,892 (GRCm39) |
F1403I |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,182 (GRCm39) |
S264P |
probably benign |
Het |
| Or5p57 |
T |
C |
7: 107,665,858 (GRCm39) |
D49G |
probably benign |
Het |
| Or7a35 |
C |
T |
10: 78,853,684 (GRCm39) |
P176L |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,390,052 (GRCm39) |
|
probably null |
Het |
| Rab3a |
A |
G |
8: 71,209,840 (GRCm39) |
N40S |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,614,660 (GRCm39) |
N74D |
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,327,853 (GRCm39) |
V139A |
possibly damaging |
Het |
| Rdh12 |
T |
C |
12: 79,260,522 (GRCm39) |
L206P |
probably damaging |
Het |
| Rimoc1 |
C |
A |
15: 4,015,848 (GRCm39) |
V239F |
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,698,547 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Strip1 |
T |
C |
3: 107,534,724 (GRCm39) |
E102G |
possibly damaging |
Het |
| Sult2a8 |
T |
A |
7: 14,147,698 (GRCm39) |
I198F |
probably damaging |
Het |
| Tars3 |
T |
C |
7: 65,305,444 (GRCm39) |
S223P |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vcam1 |
C |
T |
3: 115,904,552 (GRCm39) |
V732M |
possibly damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,681 (GRCm39) |
Y458H |
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 |
|
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 |
|
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'- GCAAAAGGAGGCTACTTCACAGCG -3'
(R):5'- GGAACCTCTCAAAGGCAGAGTCATC -3'
Sequencing Primer
(F):5'- TGTTGATACAGGCCACCAG -3'
(R):5'- CTATAGCGGTAGAGGAGCCAC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation