Incidental Mutation 'IGL03220:Prpf6'
| ID |
413613 |
| 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 # |
IGL03220
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181243112-181297454 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 181274672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 383
(E383G)
|
| 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: E383G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: E383G
| 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: E383G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: E383G
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
T |
A |
1: 179,615,767 (GRCm39) |
E368D |
probably benign |
Het |
| Arid2 |
A |
T |
15: 96,259,653 (GRCm39) |
H271L |
probably damaging |
Het |
| Bsnd |
G |
T |
4: 106,343,962 (GRCm39) |
Q115K |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,494,653 (GRCm39) |
I887N |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,621,070 (GRCm39) |
F155L |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,606,765 (GRCm39) |
S553P |
probably damaging |
Het |
| Crnn |
C |
T |
3: 93,056,674 (GRCm39) |
H487Y |
possibly damaging |
Het |
| Ddi2 |
T |
C |
4: 141,435,767 (GRCm39) |
N90S |
probably benign |
Het |
| Deup1 |
T |
A |
9: 15,503,707 (GRCm39) |
I285L |
probably benign |
Het |
| Dlgap4 |
T |
C |
2: 156,546,546 (GRCm39) |
S405P |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,069,720 (GRCm39) |
F1560L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,710,251 (GRCm39) |
|
probably null |
Het |
| Dst |
C |
A |
1: 34,225,076 (GRCm39) |
Q1161K |
probably damaging |
Het |
| Dus1l |
G |
T |
11: 120,683,185 (GRCm39) |
H280N |
probably damaging |
Het |
| Gm21985 |
C |
A |
2: 112,187,829 (GRCm39) |
H964N |
possibly damaging |
Het |
| Gzmd |
A |
T |
14: 56,367,886 (GRCm39) |
V129E |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,236,633 (GRCm39) |
F392Y |
possibly damaging |
Het |
| Kdelr2 |
T |
A |
5: 143,403,870 (GRCm39) |
Y86* |
probably null |
Het |
| Kif26b |
T |
G |
1: 178,692,434 (GRCm39) |
C458W |
probably damaging |
Het |
| Lhpp |
G |
A |
7: 132,252,020 (GRCm39) |
V220I |
probably benign |
Het |
| Nfya |
T |
C |
17: 48,707,521 (GRCm39) |
N7S |
possibly damaging |
Het |
| Or5ar1 |
G |
T |
2: 85,671,326 (GRCm39) |
Q270K |
possibly damaging |
Het |
| Or5b12b |
C |
T |
19: 12,861,815 (GRCm39) |
T190I |
possibly damaging |
Het |
| Or5b24 |
A |
C |
19: 12,912,858 (GRCm39) |
Y252S |
probably damaging |
Het |
| Prkg1 |
A |
T |
19: 30,546,637 (GRCm39) |
|
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,644,882 (GRCm39) |
V1153E |
probably damaging |
Het |
| Ryr1 |
A |
T |
7: 28,759,280 (GRCm39) |
I3330N |
probably damaging |
Het |
| Sgk1 |
A |
G |
10: 21,873,290 (GRCm39) |
D252G |
probably null |
Het |
| Shcbp1l |
T |
C |
1: 153,308,911 (GRCm39) |
|
probably benign |
Het |
| Shoc1 |
G |
A |
4: 59,082,378 (GRCm39) |
Q417* |
probably null |
Het |
| Skida1 |
T |
C |
2: 18,052,972 (GRCm39) |
D60G |
probably damaging |
Het |
| Slc9a5 |
T |
A |
8: 106,094,652 (GRCm39) |
C748S |
probably benign |
Het |
| Smc4 |
A |
T |
3: 68,916,875 (GRCm39) |
Y163F |
possibly damaging |
Het |
| Spdya |
T |
C |
17: 71,885,286 (GRCm39) |
S247P |
possibly damaging |
Het |
| Sptb |
T |
C |
12: 76,659,684 (GRCm39) |
D1072G |
probably benign |
Het |
| St7l |
A |
T |
3: 104,782,139 (GRCm39) |
|
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,316,692 (GRCm39) |
|
probably benign |
Het |
| Tspan4 |
A |
G |
7: 141,071,712 (GRCm39) |
Y153C |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,974,402 (GRCm39) |
N944K |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,544,097 (GRCm39) |
C407R |
probably damaging |
Het |
| Zfp563 |
T |
G |
17: 33,323,661 (GRCm39) |
S85R |
probably benign |
Het |
| Zp2 |
A |
C |
7: 119,736,450 (GRCm39) |
L331R |
possibly 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 |
|
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 |
2016-08-02 |
Incidental Mutation