Incidental Mutation 'IGL01461:Prpf6'
| ID |
87986 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prpf6
|
| Ensembl Gene |
ENSMUSG00000002455 |
| Gene Name |
pre-mRNA splicing factor 6 |
| Synonyms |
ANT-1, U5-102K, 2610031L17Rik, 1190003A07Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01461
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181243112-181297454 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 181273304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 283
(T283N)
|
| 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: T283N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: T283N
| 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: T283N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: T283N
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,429,214 (GRCm39) |
F767S |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,051,884 (GRCm39) |
M1137L |
probably benign |
Het |
| Brd9 |
C |
T |
13: 74,099,717 (GRCm39) |
Q445* |
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,244,926 (GRCm39) |
T990A |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,293 (GRCm39) |
L1513S |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,142,480 (GRCm39) |
K56R |
probably damaging |
Het |
| Cryaa |
A |
G |
17: 31,900,000 (GRCm39) |
Y118C |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,278,729 (GRCm39) |
T378A |
possibly damaging |
Het |
| E330020D12Rik |
A |
G |
1: 153,284,105 (GRCm39) |
|
noncoding transcript |
Het |
| F7 |
A |
G |
8: 13,082,245 (GRCm39) |
D145G |
possibly damaging |
Het |
| Flvcr2 |
A |
G |
12: 85,849,905 (GRCm39) |
|
probably benign |
Het |
| Hltf |
A |
T |
3: 20,154,103 (GRCm39) |
K680* |
probably null |
Het |
| Ing1 |
T |
G |
8: 11,611,453 (GRCm39) |
F22V |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,165,945 (GRCm39) |
D330G |
probably damaging |
Het |
| Itgax |
G |
T |
7: 127,734,190 (GRCm39) |
D321Y |
probably damaging |
Het |
| Kel |
A |
C |
6: 41,678,845 (GRCm39) |
|
probably null |
Het |
| Marchf10 |
T |
C |
11: 105,280,431 (GRCm39) |
K618R |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,890,576 (GRCm39) |
M925L |
probably damaging |
Het |
| Miga1 |
C |
T |
3: 152,040,934 (GRCm39) |
E78K |
probably damaging |
Het |
| Or4c106 |
G |
T |
2: 88,682,669 (GRCm39) |
C125F |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,695,245 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
T |
C |
15: 85,704,575 (GRCm39) |
I454V |
possibly damaging |
Het |
| Poglut2 |
T |
C |
1: 44,150,094 (GRCm39) |
Q365R |
probably damaging |
Het |
| R3hdm1 |
A |
G |
1: 128,106,643 (GRCm39) |
H197R |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,233,013 (GRCm39) |
|
probably benign |
Het |
| Smpd4 |
A |
C |
16: 17,439,370 (GRCm39) |
Q7P |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,094 (GRCm39) |
I248K |
possibly damaging |
Het |
|
| Other mutations in Prpf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation