Incidental Mutation 'R5380:Prpf6'
| ID |
425788 |
| 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 |
042955-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5380 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181243112-181297454 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 181250059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 73
(L73Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002529]
[ENSMUST00000132714]
[ENSMUST00000136481]
|
| AlphaFold |
Q91YR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002529
AA Change: L73Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: L73Q
| 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: ENSMUST00000132714
AA Change: L14Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117711
Gene: ENSMUSG00000002455
AA Change: L14Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRP1_N
|
1 |
54 |
6e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136481
AA Change: L73Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: L73Q
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
A |
T |
4: 40,177,848 (GRCm39) |
I290F |
probably damaging |
Het |
| Cfap107 |
A |
T |
4: 144,150,372 (GRCm39) |
W70R |
probably damaging |
Het |
| Cmip |
T |
A |
8: 118,149,629 (GRCm39) |
C155S |
probably damaging |
Het |
| Cyba |
G |
T |
8: 123,153,718 (GRCm39) |
P82T |
possibly damaging |
Het |
| Dgkb |
C |
T |
12: 38,177,299 (GRCm39) |
R202W |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,014,598 (GRCm39) |
E3611G |
probably damaging |
Het |
| Dnah7b |
A |
T |
1: 46,256,351 (GRCm39) |
S1885C |
probably benign |
Het |
| Dop1b |
A |
G |
16: 93,560,298 (GRCm39) |
E748G |
probably damaging |
Het |
| Dusp18 |
C |
A |
11: 3,847,037 (GRCm39) |
P9Q |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,943,013 (GRCm39) |
D635E |
probably damaging |
Het |
| Fbxo25 |
T |
A |
8: 13,971,886 (GRCm39) |
S79R |
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,315,230 (GRCm39) |
L675Q |
probably damaging |
Het |
| Foxo1 |
T |
A |
3: 52,176,446 (GRCm39) |
L75Q |
probably damaging |
Het |
| Fsip2 |
T |
C |
2: 82,805,742 (GRCm39) |
V687A |
possibly damaging |
Het |
| Gga3 |
G |
T |
11: 115,479,257 (GRCm39) |
P354Q |
probably damaging |
Het |
| Gm11077 |
A |
T |
6: 140,675,048 (GRCm39) |
K13N |
unknown |
Het |
| Haus4 |
T |
A |
14: 54,787,232 (GRCm39) |
K75M |
probably damaging |
Het |
| Igfn1 |
G |
A |
1: 135,893,825 (GRCm39) |
T2085M |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Lims1 |
A |
T |
10: 58,252,492 (GRCm39) |
I321L |
probably damaging |
Het |
| Ms4a6b |
A |
T |
19: 11,499,044 (GRCm39) |
I53F |
probably damaging |
Het |
| Msl3l2 |
A |
G |
10: 55,991,668 (GRCm39) |
D131G |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,370,035 (GRCm39) |
V189A |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pfkl |
T |
G |
10: 77,833,423 (GRCm39) |
I260L |
possibly damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,171 (GRCm39) |
Y128H |
probably benign |
Het |
| R3hdm2 |
T |
C |
10: 127,321,316 (GRCm39) |
V658A |
probably damaging |
Het |
| Rab27b |
T |
C |
18: 70,129,226 (GRCm39) |
T23A |
probably damaging |
Het |
| Rabif |
A |
G |
1: 134,433,980 (GRCm39) |
E98G |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,271,185 (GRCm39) |
D378G |
possibly damaging |
Het |
| Spata21 |
A |
G |
4: 140,834,496 (GRCm39) |
T494A |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,344,771 (GRCm39) |
K919E |
probably benign |
Het |
| Tnrc6b |
C |
G |
15: 80,763,766 (GRCm39) |
P423A |
possibly damaging |
Het |
| Tomm40 |
A |
G |
7: 19,435,675 (GRCm39) |
F352L |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,540,868 (GRCm39) |
D158E |
probably damaging |
Het |
| Tspo2 |
A |
G |
17: 48,755,780 (GRCm39) |
F93L |
probably benign |
Het |
| V1ra8 |
T |
A |
6: 90,180,004 (GRCm39) |
I69K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,456,102 (GRCm39) |
T1353A |
unknown |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfp281 |
A |
G |
1: 136,553,676 (GRCm39) |
K218R |
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 |
|
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 |
|
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'- GTTCCCAGAAGTGTGAGAAGTGATG -3'
(R):5'- ACAGGCCGTACATTCGTGTG -3'
Sequencing Primer
(F):5'- TGGGATCGGGGTCACTTAAATAATG -3'
(R):5'- GTACATTCGTGTGCACCCCG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation