Incidental Mutation 'IGL01729:Prpf6'
| ID |
105408 |
| 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 # |
IGL01729
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181243112-181297454 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 181296710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 876
(D876E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002529]
[ENSMUST00000136481]
[ENSMUST00000207856]
|
| AlphaFold |
Q91YR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002529
AA Change: D876E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: D876E
| 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: D876E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: D876E
| 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 |
probably benign
Transcript: ENSMUST00000207856
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
A |
G |
15: 83,112,526 (GRCm39) |
F86L |
probably damaging |
Het |
| Acer3 |
A |
G |
7: 97,866,072 (GRCm39) |
V217A |
probably benign |
Het |
| Adcy10 |
T |
C |
1: 165,340,737 (GRCm39) |
|
probably null |
Het |
| Adcy8 |
C |
T |
15: 64,678,511 (GRCm39) |
V481I |
probably damaging |
Het |
| Ano3 |
C |
T |
2: 110,611,739 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
C |
T |
11: 97,344,787 (GRCm39) |
T583I |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,057,106 (GRCm39) |
L173P |
probably damaging |
Het |
| Clgn |
T |
C |
8: 84,124,279 (GRCm39) |
W74R |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,426,753 (GRCm39) |
S523G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,864,529 (GRCm39) |
K2245Q |
probably benign |
Het |
| Dsg1b |
G |
T |
18: 20,538,295 (GRCm39) |
V634L |
possibly damaging |
Het |
| Dzip3 |
A |
T |
16: 48,748,726 (GRCm39) |
V864E |
possibly damaging |
Het |
| Ear2 |
A |
T |
14: 44,340,701 (GRCm39) |
R120* |
probably null |
Het |
| Fam171b |
T |
C |
2: 83,685,881 (GRCm39) |
|
probably benign |
Het |
| Fam186b |
G |
A |
15: 99,178,132 (GRCm39) |
S398L |
probably benign |
Het |
| Gabrp |
T |
C |
11: 33,502,689 (GRCm39) |
K392E |
probably damaging |
Het |
| Gm10355 |
G |
A |
3: 101,213,999 (GRCm39) |
|
noncoding transcript |
Het |
| Gm3424 |
T |
C |
14: 17,337,188 (GRCm39) |
Y90C |
probably damaging |
Het |
| Gm8165 |
A |
G |
14: 43,910,186 (GRCm39) |
V212A |
unknown |
Het |
| Grm7 |
G |
A |
6: 111,223,145 (GRCm39) |
R395Q |
probably benign |
Het |
| Il1r1 |
T |
A |
1: 40,333,986 (GRCm39) |
N185K |
probably damaging |
Het |
| Jam3 |
A |
G |
9: 27,016,821 (GRCm39) |
F80L |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,365,712 (GRCm39) |
Y206H |
probably damaging |
Het |
| Mroh7 |
A |
G |
4: 106,561,402 (GRCm39) |
Y614H |
possibly damaging |
Het |
| Ntmt2 |
T |
A |
1: 163,552,572 (GRCm39) |
D18V |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,581,888 (GRCm39) |
Y61H |
probably damaging |
Het |
| Prox1 |
T |
A |
1: 189,893,372 (GRCm39) |
T358S |
probably benign |
Het |
| Rpf1 |
G |
A |
3: 146,212,904 (GRCm39) |
R311C |
probably damaging |
Het |
| Rpusd2 |
T |
A |
2: 118,865,837 (GRCm39) |
V178D |
probably damaging |
Het |
| Stx2 |
A |
G |
5: 129,068,042 (GRCm39) |
F222L |
probably benign |
Het |
| Themis |
T |
A |
10: 28,637,587 (GRCm39) |
Y230* |
probably null |
Het |
| Tmem132e |
T |
C |
11: 82,325,942 (GRCm39) |
L314P |
possibly damaging |
Het |
| Tmtc3 |
T |
C |
10: 100,283,017 (GRCm39) |
E846G |
probably benign |
Het |
| Trem1 |
T |
C |
17: 48,551,603 (GRCm39) |
V88A |
possibly damaging |
Het |
| Trim21 |
G |
A |
7: 102,213,100 (GRCm39) |
A66V |
probably damaging |
Het |
| Trip4 |
A |
C |
9: 65,782,174 (GRCm39) |
V186G |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,973,739 (GRCm39) |
E348G |
probably damaging |
Het |
| Xrn2 |
T |
C |
2: 146,878,717 (GRCm39) |
|
probably null |
Het |
| Zfp36 |
A |
G |
7: 28,077,888 (GRCm39) |
S7P |
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation