Incidental Mutation 'R3744:Pop5'
ID |
271119 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pop5
|
Ensembl Gene |
ENSMUSG00000060152 |
Gene Name |
processing of precursor 5, ribonuclease P/MRP family (S. cerevisiae) |
Synonyms |
2700077E03Rik, 1500019J17Rik, Rnasep3 |
MMRRC Submission |
040730-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
R3744 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
115373505-115379031 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115378567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 117
(Y117H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118408
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040555]
[ENSMUST00000081497]
[ENSMUST00000112096]
[ENSMUST00000112097]
[ENSMUST00000135455]
|
AlphaFold |
Q9DB28 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040555
|
SMART Domains |
Protein: ENSMUSP00000041778 Gene: ENSMUSG00000041740
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
RING
|
225 |
266 |
1.98e-8 |
SMART |
low complexity region
|
379 |
400 |
N/A |
INTRINSIC |
low complexity region
|
439 |
461 |
N/A |
INTRINSIC |
low complexity region
|
591 |
618 |
N/A |
INTRINSIC |
low complexity region
|
660 |
671 |
N/A |
INTRINSIC |
low complexity region
|
781 |
792 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081497
AA Change: Y117H
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000080215 Gene: ENSMUSG00000060152 AA Change: Y117H
Domain | Start | End | E-Value | Type |
Pfam:RNase_P_Rpp14
|
7 |
115 |
2.8e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112096
|
SMART Domains |
Protein: ENSMUSP00000107725 Gene: ENSMUSG00000041740
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
RING
|
225 |
266 |
1.98e-8 |
SMART |
low complexity region
|
379 |
400 |
N/A |
INTRINSIC |
low complexity region
|
439 |
461 |
N/A |
INTRINSIC |
low complexity region
|
591 |
618 |
N/A |
INTRINSIC |
low complexity region
|
660 |
671 |
N/A |
INTRINSIC |
low complexity region
|
782 |
793 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112097
|
SMART Domains |
Protein: ENSMUSP00000107726 Gene: ENSMUSG00000041740
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
low complexity region
|
100 |
114 |
N/A |
INTRINSIC |
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
RING
|
225 |
266 |
1.98e-8 |
SMART |
low complexity region
|
379 |
400 |
N/A |
INTRINSIC |
low complexity region
|
440 |
462 |
N/A |
INTRINSIC |
low complexity region
|
592 |
619 |
N/A |
INTRINSIC |
low complexity region
|
661 |
672 |
N/A |
INTRINSIC |
low complexity region
|
783 |
794 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128830
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128954
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135455
AA Change: Y117H
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118408 Gene: ENSMUSG00000060152 AA Change: Y117H
Domain | Start | End | E-Value | Type |
Pfam:RNase_P_Rpp14
|
7 |
117 |
3.7e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140083
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142233
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154800
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153553
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139853
|
SMART Domains |
Protein: ENSMUSP00000131696 Gene: ENSMUSG00000041740
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
53 |
N/A |
INTRINSIC |
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
low complexity region
|
115 |
129 |
N/A |
INTRINSIC |
RING
|
188 |
229 |
1.98e-8 |
SMART |
low complexity region
|
342 |
363 |
N/A |
INTRINSIC |
low complexity region
|
402 |
424 |
N/A |
INTRINSIC |
low complexity region
|
554 |
581 |
N/A |
INTRINSIC |
low complexity region
|
623 |
634 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.4278 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
T |
C |
17: 31,330,190 (GRCm39) |
|
probably benign |
Het |
Aox4 |
C |
T |
1: 58,285,029 (GRCm39) |
H594Y |
probably damaging |
Het |
Aspn |
G |
A |
13: 49,720,036 (GRCm39) |
E351K |
probably damaging |
Het |
BC004004 |
A |
G |
17: 29,520,423 (GRCm39) |
*349W |
probably null |
Het |
Elmo2 |
C |
T |
2: 165,157,922 (GRCm39) |
D39N |
probably damaging |
Het |
Fam161a |
T |
C |
11: 22,970,410 (GRCm39) |
F196S |
probably damaging |
Het |
Fam186a |
A |
G |
15: 99,845,416 (GRCm39) |
V276A |
unknown |
Het |
Fn3krp |
T |
C |
11: 121,317,531 (GRCm39) |
|
probably null |
Het |
Gnai3 |
T |
C |
3: 108,016,714 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,292,815 (GRCm39) |
|
probably benign |
Het |
Igkv5-43 |
G |
A |
6: 69,752,921 (GRCm39) |
H54Y |
probably benign |
Het |
Kif26b |
A |
G |
1: 178,506,595 (GRCm39) |
I224V |
probably benign |
Het |
Lyg1 |
T |
C |
1: 37,988,923 (GRCm39) |
Y99C |
probably benign |
Het |
Myh4 |
C |
T |
11: 67,146,141 (GRCm39) |
R1400C |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,439,573 (GRCm39) |
S2262P |
probably benign |
Het |
Prpf8 |
T |
A |
11: 75,397,547 (GRCm39) |
|
probably null |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rapgef6 |
T |
C |
11: 54,516,760 (GRCm39) |
F54S |
probably benign |
Het |
Sptb |
T |
C |
12: 76,647,174 (GRCm39) |
T1954A |
probably benign |
Het |
Ssbp2 |
T |
C |
13: 91,828,765 (GRCm39) |
|
probably benign |
Het |
Tap1 |
A |
T |
17: 34,412,586 (GRCm39) |
D541V |
probably damaging |
Het |
Tcte1 |
A |
G |
17: 45,850,597 (GRCm39) |
D291G |
probably damaging |
Het |
Tpbg |
A |
G |
9: 85,727,215 (GRCm39) |
R395G |
probably damaging |
Het |
Trappc10 |
T |
A |
10: 78,034,924 (GRCm39) |
S941C |
probably benign |
Het |
Usp19 |
G |
A |
9: 108,377,380 (GRCm39) |
R886Q |
probably damaging |
Het |
Utp14b |
G |
T |
1: 78,642,973 (GRCm39) |
E290D |
probably benign |
Het |
Vmn1r30 |
A |
T |
6: 58,412,804 (GRCm39) |
Y9* |
probably null |
Het |
Vmn2r97 |
A |
G |
17: 19,149,890 (GRCm39) |
H426R |
probably benign |
Het |
Vwa3a |
A |
G |
7: 120,351,817 (GRCm39) |
D27G |
probably benign |
Het |
Zfp36 |
A |
G |
7: 28,077,201 (GRCm39) |
S236P |
probably benign |
Het |
Zfp616 |
C |
A |
11: 73,974,813 (GRCm39) |
H452N |
probably benign |
Het |
|
Other mutations in Pop5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00945:Pop5
|
APN |
5 |
115,378,618 (GRCm39) |
unclassified |
probably benign |
|
R0127:Pop5
|
UTSW |
5 |
115,378,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R2045:Pop5
|
UTSW |
5 |
115,376,271 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4408:Pop5
|
UTSW |
5 |
115,378,836 (GRCm39) |
unclassified |
probably benign |
|
R5458:Pop5
|
UTSW |
5 |
115,378,496 (GRCm39) |
unclassified |
probably benign |
|
R5607:Pop5
|
UTSW |
5 |
115,378,260 (GRCm39) |
missense |
probably damaging |
0.97 |
R7169:Pop5
|
UTSW |
5 |
115,378,287 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7608:Pop5
|
UTSW |
5 |
115,375,931 (GRCm39) |
unclassified |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATTACACGTGGGAGGTACGG -3'
(R):5'- AAAGCTCTTCAACGGGCTCTC -3'
Sequencing Primer
(F):5'- ATGGTGGCTGTTGTTCAGAGC -3'
(R):5'- TCAACGGGCTCTCTGTCCAG -3'
|
Posted On |
2015-03-18 |