Incidental Mutation 'R6317:Prpf6'
| ID |
510015 |
| 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 |
044417-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6317 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181243112-181297454 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 181273229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 258
(V258A)
|
| 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: V258A
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: V258A
| 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: V258A
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: V258A
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
C |
18: 70,601,264 (GRCm39) |
N206S |
probably damaging |
Het |
| Abcf2 |
A |
T |
5: 24,774,156 (GRCm39) |
Y315* |
probably null |
Het |
| Adck1 |
T |
G |
12: 88,368,921 (GRCm39) |
V133G |
probably damaging |
Het |
| Aoc2 |
T |
C |
11: 101,216,292 (GRCm39) |
F125S |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,713,410 (GRCm39) |
D319G |
probably benign |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 55,001,585 (GRCm39) |
Q145R |
possibly damaging |
Het |
| Bhlhe22 |
A |
G |
3: 18,109,778 (GRCm39) |
E276G |
probably damaging |
Het |
| Cdo1 |
C |
A |
18: 46,861,104 (GRCm39) |
V36L |
probably benign |
Het |
| Ces1h |
A |
G |
8: 94,084,046 (GRCm39) |
F388S |
unknown |
Het |
| Col6a5 |
T |
A |
9: 105,766,266 (GRCm39) |
N1885Y |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,496,388 (GRCm39) |
C522S |
probably damaging |
Het |
| Csmd1 |
G |
T |
8: 16,760,658 (GRCm39) |
T159K |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,504,802 (GRCm39) |
L1977H |
probably benign |
Het |
| Cwc27 |
T |
A |
13: 104,940,769 (GRCm39) |
K197* |
probably null |
Het |
| Cyp20a1 |
T |
C |
1: 60,391,283 (GRCm39) |
S26P |
probably damaging |
Het |
| Daxx |
T |
A |
17: 34,130,949 (GRCm39) |
D321E |
probably damaging |
Het |
| Gria2 |
A |
C |
3: 80,648,311 (GRCm39) |
Y142D |
possibly damaging |
Het |
| Gspt1 |
T |
C |
16: 11,041,072 (GRCm39) |
|
probably null |
Het |
| Ighv1-80 |
A |
T |
12: 115,876,265 (GRCm39) |
V17D |
probably damaging |
Het |
| Ints4 |
T |
A |
7: 97,178,425 (GRCm39) |
L675* |
probably null |
Het |
| Kif13a |
C |
T |
13: 46,980,233 (GRCm39) |
R173Q |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,336,086 (GRCm39) |
I91T |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,348,979 (GRCm39) |
|
probably null |
Het |
| Mcemp1 |
G |
A |
8: 3,717,284 (GRCm39) |
W101* |
probably null |
Het |
| Naca |
T |
C |
10: 127,879,993 (GRCm39) |
I1675T |
probably benign |
Het |
| Nol9 |
T |
C |
4: 152,125,514 (GRCm39) |
F155S |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,960,721 (GRCm39) |
D3406Y |
probably damaging |
Het |
| Obsl1 |
A |
G |
1: 75,466,273 (GRCm39) |
V1485A |
possibly damaging |
Het |
| Oga |
A |
T |
19: 45,760,119 (GRCm39) |
|
probably null |
Het |
| Or8a1 |
T |
C |
9: 37,641,725 (GRCm39) |
K185E |
possibly damaging |
Het |
| Otog |
C |
A |
7: 45,950,639 (GRCm39) |
P337H |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,898,242 (GRCm39) |
L140P |
probably damaging |
Het |
| Pcca |
G |
A |
14: 122,820,035 (GRCm39) |
V60M |
probably damaging |
Het |
| Pex11g |
G |
T |
8: 3,514,092 (GRCm39) |
D23E |
probably damaging |
Het |
| Phactr2 |
A |
T |
10: 13,137,626 (GRCm39) |
M172K |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,512,974 (GRCm39) |
W91* |
probably null |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Podn |
A |
G |
4: 107,884,357 (GRCm39) |
F44S |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,527,205 (GRCm39) |
D87G |
possibly damaging |
Het |
| Prmt2 |
T |
A |
10: 76,058,351 (GRCm39) |
I153F |
probably benign |
Het |
| Ptpn21 |
G |
T |
12: 98,655,521 (GRCm39) |
A482E |
probably damaging |
Het |
| Qrich1 |
A |
T |
9: 108,411,491 (GRCm39) |
N339Y |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,432,659 (GRCm39) |
V750D |
possibly damaging |
Het |
| Reg3d |
G |
A |
6: 78,354,428 (GRCm39) |
P58S |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,112,212 (GRCm39) |
L1213P |
unknown |
Het |
| Sema6b |
A |
G |
17: 56,431,047 (GRCm39) |
L872S |
probably benign |
Het |
| Serpinb7 |
T |
C |
1: 107,379,436 (GRCm39) |
I281T |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,838,821 (GRCm39) |
V685A |
possibly damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,284,980 (GRCm39) |
I323V |
possibly damaging |
Het |
| Slc7a6 |
A |
T |
8: 106,919,099 (GRCm39) |
I228F |
probably damaging |
Het |
| Slc9a9 |
A |
G |
9: 94,821,512 (GRCm39) |
T300A |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,068,653 (GRCm39) |
N2151S |
probably damaging |
Het |
| Sult2a1 |
T |
A |
7: 13,569,945 (GRCm39) |
I96L |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,966,070 (GRCm39) |
D528G |
probably benign |
Het |
| Ubl7 |
T |
C |
9: 57,818,456 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
A |
13: 89,839,716 (GRCm39) |
I983L |
probably benign |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,742 (GRCm39) |
L209P |
probably damaging |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Vmn1r3 |
T |
C |
4: 3,184,993 (GRCm39) |
S105G |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,783,711 (GRCm39) |
H945Q |
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 |
|
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'- GACAAGCTGCCTGGTTTATCAC -3'
(R):5'- TCTAGTTCATCATAGGCATTGACC -3'
Sequencing Primer
(F):5'- AAGCTGCCTGGTTTATCACTTTCAG -3'
(R):5'- ATCATTTCTCAGAACATCCATGTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation