Incidental Mutation 'R0674:Prpf6'
ID |
61553 |
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 |
038859-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0674 (G1)
|
Quality Score |
88 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
181243112-181297454 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 181273767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 304
(T304A)
|
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: T304A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000002529 Gene: ENSMUSG00000002455 AA Change: T304A
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: T304A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000121340 Gene: ENSMUSG00000002455 AA Change: T304A
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 |
0.2495 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 90.4%
|
Validation Efficiency |
97% (124/128) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adar |
A |
G |
3: 89,657,130 (GRCm39) |
|
probably benign |
Het |
Adgrl2 |
A |
T |
3: 148,543,315 (GRCm39) |
M803K |
possibly damaging |
Het |
Atp13a5 |
T |
C |
16: 29,067,102 (GRCm39) |
|
probably benign |
Het |
Atp2a3 |
T |
C |
11: 72,872,711 (GRCm39) |
I753T |
probably damaging |
Het |
Bace2 |
G |
A |
16: 97,237,949 (GRCm39) |
V467M |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 37,098,775 (GRCm39) |
V1134E |
possibly damaging |
Het |
Ccser2 |
A |
G |
14: 36,640,548 (GRCm39) |
C11R |
possibly damaging |
Het |
Cd2ap |
T |
A |
17: 43,156,283 (GRCm39) |
I85F |
possibly damaging |
Het |
Cd2bp2 |
C |
T |
7: 126,794,008 (GRCm39) |
E94K |
probably damaging |
Het |
Chrna3 |
C |
A |
9: 54,922,456 (GRCm39) |
A451S |
probably damaging |
Het |
Cmya5 |
C |
A |
13: 93,229,299 (GRCm39) |
V1930F |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,050,550 (GRCm39) |
T2229A |
probably benign |
Het |
Csrnp2 |
A |
T |
15: 100,385,872 (GRCm39) |
L122H |
probably damaging |
Het |
Cyp11b2 |
G |
A |
15: 74,727,393 (GRCm39) |
P96L |
probably damaging |
Het |
Ddr1 |
G |
T |
17: 36,000,561 (GRCm39) |
S368* |
probably null |
Het |
E2f1 |
T |
C |
2: 154,406,029 (GRCm39) |
K115E |
probably damaging |
Het |
Erlec1 |
A |
T |
11: 30,885,073 (GRCm39) |
|
probably benign |
Het |
Fus |
T |
A |
7: 127,571,948 (GRCm39) |
|
probably benign |
Het |
Gml |
G |
A |
15: 74,685,709 (GRCm39) |
T92I |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,408,474 (GRCm39) |
S4567P |
probably damaging |
Het |
Iglc2 |
A |
G |
16: 19,017,591 (GRCm39) |
S5P |
probably benign |
Het |
Itgam |
T |
C |
7: 127,715,390 (GRCm39) |
V1028A |
possibly damaging |
Het |
Krt222 |
T |
A |
11: 99,127,086 (GRCm39) |
N178I |
probably benign |
Het |
Krt81 |
C |
A |
15: 101,361,508 (GRCm39) |
R24L |
possibly damaging |
Het |
Luzp1 |
C |
T |
4: 136,270,768 (GRCm39) |
T997I |
possibly damaging |
Het |
Maml1 |
G |
T |
11: 50,148,885 (GRCm39) |
Q952K |
probably benign |
Het |
Map2 |
A |
G |
1: 66,452,361 (GRCm39) |
E499G |
probably damaging |
Het |
Map4k4 |
A |
T |
1: 40,042,975 (GRCm39) |
H118L |
probably damaging |
Het |
Myzap |
T |
C |
9: 71,422,426 (GRCm39) |
D382G |
probably damaging |
Het |
Naip5 |
T |
C |
13: 100,359,707 (GRCm39) |
T510A |
probably benign |
Het |
Nek6 |
G |
C |
2: 38,448,916 (GRCm39) |
G95R |
possibly damaging |
Het |
Nphp3 |
T |
C |
9: 103,913,481 (GRCm39) |
|
probably null |
Het |
Nr1d2 |
T |
C |
14: 18,215,086 (GRCm38) |
S309G |
probably benign |
Het |
Nrcam |
A |
T |
12: 44,611,105 (GRCm39) |
I570F |
probably benign |
Het |
Oas1d |
T |
C |
5: 121,058,049 (GRCm39) |
I331T |
probably benign |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Or4f14 |
A |
T |
2: 111,743,018 (GRCm39) |
F86I |
probably benign |
Het |
Or51b6 |
T |
C |
7: 103,556,462 (GRCm39) |
V272A |
probably benign |
Het |
Pex5l |
A |
T |
3: 33,006,765 (GRCm39) |
W535R |
probably damaging |
Het |
Pisd |
C |
T |
5: 32,931,781 (GRCm39) |
R202H |
probably benign |
Het |
Plxna2 |
A |
G |
1: 194,331,783 (GRCm39) |
N403S |
probably benign |
Het |
Prdm12 |
A |
G |
2: 31,533,924 (GRCm39) |
I180M |
probably benign |
Het |
Ptprm |
G |
A |
17: 67,498,336 (GRCm39) |
T35I |
possibly damaging |
Het |
Ptx3 |
T |
A |
3: 66,132,148 (GRCm39) |
I223N |
probably damaging |
Het |
Pygb |
G |
A |
2: 150,657,054 (GRCm39) |
|
probably null |
Het |
Qrsl1 |
A |
G |
10: 43,771,997 (GRCm39) |
|
probably benign |
Het |
Rad51ap2 |
T |
C |
12: 11,508,818 (GRCm39) |
|
probably null |
Het |
Ralbp1 |
C |
T |
17: 66,159,748 (GRCm39) |
R505H |
probably benign |
Het |
Rimbp3 |
T |
C |
16: 17,030,601 (GRCm39) |
S1342P |
probably benign |
Het |
Slc22a14 |
C |
A |
9: 119,007,608 (GRCm39) |
R267L |
probably damaging |
Het |
Slco6c1 |
T |
A |
1: 97,032,498 (GRCm39) |
|
probably benign |
Het |
Tcp1 |
T |
C |
17: 13,142,131 (GRCm39) |
I375T |
probably damaging |
Het |
Tiparp |
T |
C |
3: 65,460,586 (GRCm39) |
I525T |
probably benign |
Het |
Tjp2 |
A |
G |
19: 24,108,680 (GRCm39) |
L144P |
probably benign |
Het |
Tssk2 |
A |
G |
16: 17,716,930 (GRCm39) |
D111G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,775,823 (GRCm39) |
T1740A |
possibly damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,898,129 (GRCm39) |
D381E |
probably benign |
Het |
Vsig10 |
C |
T |
5: 117,481,911 (GRCm39) |
T367M |
probably damaging |
Het |
Wnt11 |
T |
C |
7: 98,495,735 (GRCm39) |
C80R |
probably damaging |
Het |
Zar1 |
T |
A |
5: 72,737,643 (GRCm39) |
|
probably null |
Het |
Zfp52 |
A |
T |
17: 21,782,108 (GRCm39) |
H652L |
probably damaging |
Het |
Zpr1 |
T |
A |
9: 46,186,747 (GRCm39) |
L194Q |
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 |
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'- AGACCTCAGTTTGTTTGCTCAGTCC -3'
(R):5'- GCCTGAGAAGCTCCCAGGTTTATC -3'
Sequencing Primer
(F):5'- CAAAAAAAAGAGTAGAGCTGTTTTGG -3'
(R):5'- AAGATAAGTCAGTCTCTGCTCC -3'
|
Posted On |
2013-07-30 |