Incidental Mutation 'R7043:Prpf6'
ID |
547146 |
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 |
045142-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7043 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
181243112-181297454 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 181291297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 704
(H704L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002529]
[ENSMUST00000136481]
|
AlphaFold |
Q91YR7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002529
AA Change: H704L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000002529 Gene: ENSMUSG00000002455 AA Change: H704L
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 benign
Transcript: ENSMUST00000136481
AA Change: H704L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121340 Gene: ENSMUSG00000002455 AA Change: H704L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (51/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,484,474 (GRCm39) |
L1596P |
probably damaging |
Het |
Actr3b |
A |
G |
5: 26,054,936 (GRCm39) |
M329V |
probably benign |
Het |
Avpr1a |
C |
T |
10: 122,285,586 (GRCm39) |
R293C |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,215,215 (GRCm39) |
C390S |
probably benign |
Het |
C2cd2l |
A |
T |
9: 44,227,848 (GRCm39) |
M131K |
probably damaging |
Het |
Ccna2 |
T |
C |
3: 36,624,302 (GRCm39) |
|
probably benign |
Het |
Cd53 |
T |
C |
3: 106,670,577 (GRCm39) |
D152G |
probably damaging |
Het |
Cdpf1 |
A |
T |
15: 85,692,485 (GRCm39) |
V66E |
probably null |
Het |
Chd9 |
G |
T |
8: 91,760,843 (GRCm39) |
|
probably benign |
Het |
Crybg2 |
A |
G |
4: 133,818,447 (GRCm39) |
D1710G |
probably benign |
Het |
Dst |
A |
G |
1: 34,296,992 (GRCm39) |
T5794A |
probably damaging |
Het |
Eif2s1 |
G |
T |
12: 78,923,882 (GRCm39) |
R113L |
probably damaging |
Het |
Eif5 |
A |
G |
12: 111,511,030 (GRCm39) |
D423G |
probably benign |
Het |
Eri1 |
A |
C |
8: 35,945,792 (GRCm39) |
D164E |
probably damaging |
Het |
F7 |
A |
T |
8: 13,083,997 (GRCm39) |
R227S |
probably benign |
Het |
Gm14496 |
T |
G |
2: 181,642,120 (GRCm39) |
I597S |
possibly damaging |
Het |
Gpr85 |
T |
A |
6: 13,835,876 (GRCm39) |
N343Y |
probably damaging |
Het |
H2-T23 |
A |
T |
17: 36,342,803 (GRCm39) |
S112T |
probably damaging |
Het |
Itga9 |
C |
T |
9: 118,598,184 (GRCm39) |
P573S |
probably damaging |
Het |
Kcnb2 |
A |
T |
1: 15,383,150 (GRCm39) |
M159L |
probably benign |
Het |
Kmt5b |
T |
A |
19: 3,865,220 (GRCm39) |
S738R |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 40,812,426 (GRCm39) |
N2393S |
possibly damaging |
Het |
Mme |
T |
A |
3: 63,252,638 (GRCm39) |
Y427* |
probably null |
Het |
Naip1 |
A |
G |
13: 100,563,422 (GRCm39) |
V581A |
probably damaging |
Het |
Ndel1 |
A |
G |
11: 68,713,450 (GRCm39) |
L329P |
possibly damaging |
Het |
Nthl1 |
T |
G |
17: 24,857,644 (GRCm39) |
V281G |
probably benign |
Het |
Or52ab2 |
C |
A |
7: 102,970,292 (GRCm39) |
|
probably benign |
Het |
Per2 |
G |
T |
1: 91,347,130 (GRCm39) |
H1197Q |
probably benign |
Het |
Phf8-ps |
T |
C |
17: 33,284,306 (GRCm39) |
D832G |
possibly damaging |
Het |
Plec |
G |
A |
15: 76,093,328 (GRCm39) |
|
probably benign |
Het |
Recql5 |
C |
T |
11: 115,821,502 (GRCm39) |
|
probably null |
Het |
Rimbp3 |
G |
A |
16: 17,028,972 (GRCm39) |
V799M |
probably damaging |
Het |
Sema3f |
C |
T |
9: 107,568,599 (GRCm39) |
A169T |
possibly damaging |
Het |
Serpinb9f |
T |
C |
13: 33,509,970 (GRCm39) |
I54T |
possibly damaging |
Het |
Skint5 |
A |
T |
4: 113,574,304 (GRCm39) |
L749Q |
unknown |
Het |
Slc35g3 |
T |
C |
11: 69,652,476 (GRCm39) |
D12G |
probably benign |
Het |
Sptbn1 |
A |
G |
11: 30,053,323 (GRCm39) |
V2252A |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,706,110 (GRCm39) |
N1750S |
probably damaging |
Het |
Supt5 |
C |
A |
7: 28,019,435 (GRCm39) |
R543L |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,022,193 (GRCm39) |
E7806G |
possibly damaging |
Het |
Syt12 |
T |
A |
19: 4,501,049 (GRCm39) |
M334L |
probably benign |
Het |
Tk1 |
A |
G |
11: 117,706,779 (GRCm39) |
*234R |
probably null |
Het |
Trp73 |
T |
G |
4: 154,151,464 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,727,477 (GRCm39) |
|
probably benign |
Het |
Vmn2r11 |
T |
C |
5: 109,200,098 (GRCm39) |
I452V |
probably benign |
Het |
Wwox |
G |
T |
8: 115,406,578 (GRCm39) |
V190L |
probably damaging |
Het |
Wwp2 |
A |
G |
8: 108,184,532 (GRCm39) |
H80R |
probably benign |
Het |
Zc3h3 |
A |
G |
15: 75,681,485 (GRCm39) |
I532T |
probably damaging |
Het |
Zfp280d |
A |
G |
9: 72,226,539 (GRCm39) |
K328E |
probably damaging |
Het |
Zfp365 |
A |
G |
10: 67,745,656 (GRCm39) |
S41P |
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 |
R0628:Prpf6
|
UTSW |
2 |
181,277,841 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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'- CCCAGGACAGATGTGTGAAG -3'
(R):5'- ACAGTACCCACAGTGACAGG -3'
Sequencing Primer
(F):5'- GAAGATGTCTGTGACTTCAAGC -3'
(R):5'- AAGTTCTATCCCCGACCACTGG -3'
|
Posted On |
2019-05-13 |