Incidental Mutation 'R6501:Prpf6'
| ID |
519718 |
| 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 |
044633-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181243112-181297454 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 181263713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 191
(L191*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002529]
[ENSMUST00000136481]
|
| AlphaFold |
Q91YR7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002529
AA Change: L191*
|
| SMART Domains |
Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: L191*
| 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 null
Transcript: ENSMUST00000136481
AA Change: L191*
|
| SMART Domains |
Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: L191*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
T |
8: 71,914,165 (GRCm39) |
C154* |
probably null |
Het |
| Ada |
A |
G |
2: 163,570,108 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,886,276 (GRCm39) |
V535I |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,968,509 (GRCm39) |
N1058S |
probably null |
Het |
| Cdadc1 |
C |
T |
14: 59,823,898 (GRCm39) |
C198Y |
probably benign |
Het |
| Chrna7 |
G |
A |
7: 62,755,863 (GRCm39) |
R228C |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,344,149 (GRCm39) |
N301S |
probably damaging |
Het |
| Cts8 |
T |
A |
13: 61,398,756 (GRCm39) |
D250V |
probably damaging |
Het |
| Cyp26a1 |
G |
T |
19: 37,687,518 (GRCm39) |
R235L |
possibly damaging |
Het |
| Disc1 |
A |
T |
8: 125,944,844 (GRCm39) |
M598L |
probably benign |
Het |
| Ear6 |
T |
A |
14: 52,091,681 (GRCm39) |
V76D |
possibly damaging |
Het |
| Grifin |
A |
G |
5: 140,549,036 (GRCm39) |
*145R |
probably null |
Het |
| Htr2b |
T |
G |
1: 86,038,363 (GRCm39) |
E11A |
probably damaging |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,255 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
A |
C |
13: 9,218,829 (GRCm39) |
H522P |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,363,425 (GRCm39) |
|
probably null |
Het |
| Mdfic |
T |
C |
6: 15,770,516 (GRCm39) |
L174P |
possibly damaging |
Het |
| Mmp17 |
A |
G |
5: 129,683,469 (GRCm39) |
E535G |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,685,852 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
T |
14: 56,100,989 (GRCm39) |
T260S |
probably benign |
Het |
| Or4k44 |
C |
T |
2: 111,368,124 (GRCm39) |
G170D |
probably damaging |
Het |
| Or7e168 |
A |
T |
9: 19,720,271 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Or8b1c |
A |
T |
9: 38,384,585 (GRCm39) |
I181F |
possibly damaging |
Het |
| Pbx1 |
G |
T |
1: 168,037,103 (GRCm39) |
D109E |
probably damaging |
Het |
| Pde4d |
A |
T |
13: 109,253,476 (GRCm39) |
H101L |
probably benign |
Het |
| Pdlim3 |
T |
C |
8: 46,361,639 (GRCm39) |
I155T |
possibly damaging |
Het |
| Plekha5 |
T |
A |
6: 140,471,655 (GRCm39) |
Y26* |
probably null |
Het |
| Rabl6 |
A |
G |
2: 25,492,459 (GRCm39) |
V80A |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,381,503 (GRCm39) |
|
probably benign |
Het |
| Sec14l1 |
A |
G |
11: 117,047,676 (GRCm39) |
S698G |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,063,412 (GRCm39) |
S622P |
possibly damaging |
Het |
| Slc19a1 |
G |
A |
10: 76,885,440 (GRCm39) |
G447S |
probably benign |
Het |
| Slc2a6 |
A |
T |
2: 26,913,143 (GRCm39) |
Y383* |
probably null |
Het |
| Slc9a9 |
C |
A |
9: 94,818,424 (GRCm39) |
Q273K |
probably benign |
Het |
| Spint2 |
A |
G |
7: 28,963,131 (GRCm39) |
Y56H |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,472,146 (GRCm39) |
M123K |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,621 (GRCm39) |
|
probably null |
Het |
| Trdn |
A |
C |
10: 33,342,450 (GRCm39) |
K619N |
probably benign |
Het |
| Ttll13 |
A |
G |
7: 79,899,924 (GRCm39) |
T119A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,615,990 (GRCm39) |
Y8324C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,728,602 (GRCm39) |
|
probably benign |
Het |
| Vav2 |
A |
G |
2: 27,186,231 (GRCm39) |
L208P |
probably damaging |
Het |
| Vmn1r179 |
A |
G |
7: 23,628,342 (GRCm39) |
I178V |
probably benign |
Het |
| Vmn1r210 |
T |
C |
13: 23,011,705 (GRCm39) |
M194V |
possibly damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,166 (GRCm39) |
T647S |
probably benign |
Het |
| Wdr49 |
T |
A |
3: 75,246,765 (GRCm39) |
H289L |
probably benign |
Het |
| Wnk2 |
T |
G |
13: 49,300,159 (GRCm39) |
K184Q |
probably damaging |
Het |
| Zfp758 |
A |
G |
17: 22,590,978 (GRCm39) |
|
probably benign |
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 |
|
R6317:Prpf6
|
UTSW |
2 |
181,273,229 (GRCm39) |
missense |
probably benign |
0.06 |
|
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'- TCTAAGGCACAATAGGCCAGAG -3'
(R):5'- TCTCTATGTCCTAATGAGGCATGG -3'
Sequencing Primer
(F):5'- GCAAGTGTGACATCTAACAAGAACTC -3'
(R):5'- TCCTAATGAGGCATGGCTACACTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation