Incidental Mutation 'R0628:Prpf6'
| ID |
57684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpf6
|
| Ensembl Gene |
ENSMUSG00000002455 |
| Gene Name |
pre-mRNA splicing factor 6 |
| Synonyms |
ANT-1, U5-102K, 2610031L17Rik, 1190003A07Rik |
| MMRRC Submission |
038817-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0628 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181243112-181297454 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 181277841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 401
(P401L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002529]
[ENSMUST00000136481]
|
| AlphaFold |
Q91YR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002529
AA Change: P401L
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: P401L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRP1_N
|
13 |
169 |
2.5e-52 |
PFAM |
|
low complexity region
|
220 |
236 |
N/A |
INTRINSIC |
|
HAT
|
289 |
321 |
1.83e-1 |
SMART |
|
HAT
|
323 |
355 |
2.83e1 |
SMART |
|
HAT
|
384 |
416 |
1.08e-3 |
SMART |
|
HAT
|
417 |
446 |
1.61e1 |
SMART |
|
HAT
|
447 |
476 |
6.92e-2 |
SMART |
|
HAT
|
554 |
586 |
2.2e-4 |
SMART |
|
HAT
|
588 |
620 |
1.69e2 |
SMART |
|
HAT
|
622 |
654 |
1.38e-1 |
SMART |
|
HAT
|
656 |
687 |
3.41e1 |
SMART |
|
HAT
|
689 |
721 |
3.99e1 |
SMART |
|
HAT
|
723 |
755 |
3.38e-5 |
SMART |
|
HAT
|
757 |
789 |
2.48e-3 |
SMART |
|
HAT
|
791 |
823 |
5.64e1 |
SMART |
|
Blast:TPR
|
841 |
874 |
2e-14 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136481
AA Change: P401L
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: P401L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRP1_N
|
13 |
169 |
1.3e-62 |
PFAM |
|
low complexity region
|
220 |
236 |
N/A |
INTRINSIC |
|
HAT
|
289 |
321 |
1.83e-1 |
SMART |
|
HAT
|
323 |
355 |
2.83e1 |
SMART |
|
HAT
|
384 |
416 |
1.08e-3 |
SMART |
|
HAT
|
417 |
446 |
1.61e1 |
SMART |
|
HAT
|
447 |
476 |
6.92e-2 |
SMART |
|
HAT
|
554 |
586 |
2.2e-4 |
SMART |
|
HAT
|
588 |
620 |
1.69e2 |
SMART |
|
HAT
|
622 |
654 |
1.38e-1 |
SMART |
|
HAT
|
656 |
687 |
3.41e1 |
SMART |
|
HAT
|
689 |
721 |
3.99e1 |
SMART |
|
HAT
|
723 |
755 |
3.38e-5 |
SMART |
|
HAT
|
757 |
789 |
2.48e-3 |
SMART |
|
HAT
|
791 |
823 |
5.64e1 |
SMART |
|
Blast:TPR
|
841 |
874 |
2e-14 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139955
|
| Meta Mutation Damage Score |
0.8745 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
| Validation Efficiency |
98% (58/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
C |
18: 65,440,367 (GRCm39) |
V809G |
possibly damaging |
Het |
| Bank1 |
T |
A |
3: 135,772,151 (GRCm39) |
D493V |
probably damaging |
Het |
| Camk2d |
T |
C |
3: 126,604,273 (GRCm39) |
|
probably benign |
Het |
| Ccdc17 |
T |
A |
4: 116,455,745 (GRCm39) |
L292H |
probably damaging |
Het |
| Ccdc7b |
A |
G |
8: 129,837,498 (GRCm39) |
|
probably benign |
Het |
| Cd34 |
C |
A |
1: 194,641,525 (GRCm39) |
T317K |
probably damaging |
Het |
| Col6a5 |
C |
G |
9: 105,789,649 (GRCm39) |
|
probably null |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Copa |
T |
C |
1: 171,918,592 (GRCm39) |
|
probably benign |
Het |
| Coq7 |
T |
C |
7: 118,128,867 (GRCm39) |
D56G |
probably damaging |
Het |
| Dlg4 |
C |
T |
11: 69,922,610 (GRCm39) |
T201I |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,536,264 (GRCm39) |
D2593V |
probably benign |
Het |
| Ect2l |
T |
A |
10: 18,018,788 (GRCm39) |
E536V |
probably damaging |
Het |
| Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,935,479 (GRCm39) |
|
probably benign |
Het |
| Fam135b |
C |
T |
15: 71,320,505 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
T |
C |
14: 70,825,161 (GRCm39) |
T392A |
possibly damaging |
Het |
| Gart |
C |
T |
16: 91,430,790 (GRCm39) |
R424H |
probably benign |
Het |
| Gramd1a |
A |
G |
7: 30,842,049 (GRCm39) |
L80P |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,358,163 (GRCm39) |
K2415E |
probably benign |
Het |
| Ica1 |
C |
T |
6: 8,644,256 (GRCm39) |
|
probably benign |
Het |
| Idi2l |
T |
A |
13: 8,990,958 (GRCm39) |
|
probably benign |
Het |
| Iyd |
A |
T |
10: 3,497,127 (GRCm39) |
M161L |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,392,200 (GRCm39) |
L974S |
probably damaging |
Het |
| Kif1a |
T |
C |
1: 92,947,605 (GRCm39) |
D1619G |
probably damaging |
Het |
| Lypd8 |
C |
T |
11: 58,275,499 (GRCm39) |
T78M |
probably damaging |
Het |
| Marchf10 |
T |
A |
11: 105,280,986 (GRCm39) |
H433L |
probably benign |
Het |
| Mbp |
A |
G |
18: 82,572,742 (GRCm39) |
Y13C |
probably damaging |
Het |
| Mertk |
A |
T |
2: 128,580,233 (GRCm39) |
N229I |
probably damaging |
Het |
| Msrb2 |
T |
A |
2: 19,398,091 (GRCm39) |
D116E |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Otoa |
G |
A |
7: 120,744,873 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,719,552 (GRCm39) |
T1230A |
unknown |
Het |
| Polrmt |
T |
C |
10: 79,574,979 (GRCm39) |
T851A |
possibly damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,839,635 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,272,064 (GRCm39) |
|
probably benign |
Het |
| Reps1 |
A |
G |
10: 17,996,841 (GRCm39) |
T588A |
probably damaging |
Het |
| Rtel1 |
A |
C |
2: 180,993,674 (GRCm39) |
S782R |
probably benign |
Het |
| Sacm1l |
A |
G |
9: 123,378,060 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
G |
C |
13: 76,298,848 (GRCm39) |
V1185L |
possibly damaging |
Het |
| Skint5 |
A |
T |
4: 113,588,266 (GRCm39) |
L728* |
probably null |
Het |
| Slc9b2 |
T |
A |
3: 135,029,536 (GRCm39) |
|
probably benign |
Het |
| Snapc3 |
A |
T |
4: 83,368,397 (GRCm39) |
H298L |
probably benign |
Het |
| Tex9 |
A |
T |
9: 72,399,233 (GRCm39) |
M1K |
probably null |
Het |
| Trappc13 |
C |
T |
13: 104,291,424 (GRCm39) |
|
probably benign |
Het |
| Usp3 |
C |
T |
9: 66,425,726 (GRCm39) |
R467H |
probably benign |
Het |
| Vmn2r11 |
T |
A |
5: 109,195,597 (GRCm39) |
L576F |
possibly damaging |
Het |
| Wnk4 |
T |
C |
11: 101,165,849 (GRCm39) |
F792S |
probably benign |
Het |
| Zfp1007 |
T |
C |
5: 109,826,442 (GRCm39) |
|
probably null |
Het |
| Zfp280d |
T |
C |
9: 72,269,230 (GRCm39) |
V764A |
probably benign |
Het |
| Zfp69 |
G |
A |
4: 120,806,622 (GRCm39) |
Q4* |
probably null |
Het |
| Zfp692 |
T |
G |
11: 58,200,449 (GRCm39) |
L206R |
probably damaging |
Het |
| Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
| Zic4 |
T |
A |
9: 91,266,170 (GRCm39) |
Y264* |
probably null |
Het |
| Zic4 |
T |
A |
9: 91,266,172 (GRCm39) |
M272K |
probably benign |
Het |
| Zscan4b |
A |
T |
7: 10,635,390 (GRCm39) |
N284K |
probably damaging |
Het |
|
| Other mutations in Prpf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01461:Prpf6
|
APN |
2 |
181,273,304 (GRCm39) |
missense |
probably benign |
|
|
IGL01729:Prpf6
|
APN |
2 |
181,296,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02077:Prpf6
|
APN |
2 |
181,282,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02187:Prpf6
|
APN |
2 |
181,257,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Prpf6
|
APN |
2 |
181,290,878 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02881:Prpf6
|
APN |
2 |
181,273,864 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03220:Prpf6
|
APN |
2 |
181,274,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02837:Prpf6
|
UTSW |
2 |
181,264,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0069:Prpf6
|
UTSW |
2 |
181,257,756 (GRCm39) |
splice site |
probably null |
|
|
R0189:Prpf6
|
UTSW |
2 |
181,297,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0479:Prpf6
|
UTSW |
2 |
181,292,920 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0532:Prpf6
|
UTSW |
2 |
181,264,004 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0674:Prpf6
|
UTSW |
2 |
181,273,767 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1863:Prpf6
|
UTSW |
2 |
181,249,967 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1954:Prpf6
|
UTSW |
2 |
181,273,870 (GRCm39) |
missense |
probably benign |
|
|
R1955:Prpf6
|
UTSW |
2 |
181,273,870 (GRCm39) |
missense |
probably benign |
|
|
R4612:Prpf6
|
UTSW |
2 |
181,273,872 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4627:Prpf6
|
UTSW |
2 |
181,243,267 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5033:Prpf6
|
UTSW |
2 |
181,291,899 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5053:Prpf6
|
UTSW |
2 |
181,291,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5121:Prpf6
|
UTSW |
2 |
181,277,836 (GRCm39) |
missense |
probably benign |
|
|
R5181:Prpf6
|
UTSW |
2 |
181,291,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5380:Prpf6
|
UTSW |
2 |
181,250,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5490:Prpf6
|
UTSW |
2 |
181,249,958 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5638:Prpf6
|
UTSW |
2 |
181,287,381 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5680:Prpf6
|
UTSW |
2 |
181,290,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6152:Prpf6
|
UTSW |
2 |
181,263,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6252:Prpf6
|
UTSW |
2 |
181,289,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6317:Prpf6
|
UTSW |
2 |
181,273,229 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6501:Prpf6
|
UTSW |
2 |
181,263,713 (GRCm39) |
nonsense |
probably null |
|
|
R6789:Prpf6
|
UTSW |
2 |
181,257,844 (GRCm39) |
nonsense |
probably null |
|
|
R7023:Prpf6
|
UTSW |
2 |
181,262,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7043:Prpf6
|
UTSW |
2 |
181,291,297 (GRCm39) |
missense |
probably benign |
|
|
R7214:Prpf6
|
UTSW |
2 |
181,282,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7538:Prpf6
|
UTSW |
2 |
181,294,248 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7696:Prpf6
|
UTSW |
2 |
181,250,035 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8020:Prpf6
|
UTSW |
2 |
181,287,363 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8345:Prpf6
|
UTSW |
2 |
181,291,951 (GRCm39) |
missense |
probably benign |
|
|
R8786:Prpf6
|
UTSW |
2 |
181,262,415 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9151:Prpf6
|
UTSW |
2 |
181,250,001 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9623:Prpf6
|
UTSW |
2 |
181,289,137 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
RF016:Prpf6
|
UTSW |
2 |
181,273,869 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTCTGGCTCTGAGAATGGAAG -3'
(R):5'- ATGGCAACTGAAGCTACCTGTTACC -3'
Sequencing Primer
(F):5'- AAAGATTGCCTGCCCTGATG -3'
(R):5'- AGGATGCCATTTCAGGCTTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation