Incidental Mutation 'R6287:Rrp15'
| ID |
508257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrp15
|
| Ensembl Gene |
ENSMUSG00000001305 |
| Gene Name |
ribosomal RNA processing 15 homolog |
| Synonyms |
2810430M08Rik, 5430437H21Rik |
| MMRRC Submission |
044457-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R6287 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
186453283-186481555 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 186481373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 45
(S45T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001339]
|
| AlphaFold |
Q9CYX7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001339
AA Change: S45T
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000001339
Gene: ENSMUSG00000001305
AA Change: S45T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
86 |
N/A |
INTRINSIC |
|
Pfam:Rrp15p
|
92 |
215 |
3e-32 |
PFAM |
|
low complexity region
|
264 |
279 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180869
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
94% (34/36) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein similar to budding yeast Rrp15p. Rrp15p is a component of pre-60S ribosomal particles in budding yeast, and is required for the early maturation steps of the 60S subunit. The mouse genome contains at least one pseudogene on the X chromosome. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy7 |
A |
G |
8: 89,037,736 (GRCm39) |
N268S |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,992,367 (GRCm39) |
H4550Q |
probably benign |
Het |
| C330018D20Rik |
A |
C |
18: 57,095,407 (GRCm39) |
|
probably null |
Het |
| Camta2 |
G |
C |
11: 70,572,295 (GRCm39) |
Q310E |
probably damaging |
Het |
| Caskin1 |
A |
T |
17: 24,715,683 (GRCm39) |
K149M |
probably damaging |
Het |
| Chml |
T |
C |
1: 175,514,569 (GRCm39) |
K108E |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,403,612 (GRCm39) |
L345P |
probably damaging |
Het |
| Defb6 |
T |
A |
8: 19,278,085 (GRCm39) |
C52* |
probably null |
Het |
| Flii |
A |
T |
11: 60,612,423 (GRCm39) |
I288N |
probably damaging |
Het |
| Fmnl2 |
T |
C |
2: 52,904,860 (GRCm39) |
Y55H |
probably damaging |
Het |
| Galk2 |
A |
T |
2: 125,712,268 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,269,408 (GRCm39) |
C688S |
probably benign |
Het |
| Lmln |
T |
C |
16: 32,894,555 (GRCm39) |
|
probably null |
Het |
| Muc16 |
T |
C |
9: 18,570,330 (GRCm39) |
T730A |
unknown |
Het |
| Nup88 |
T |
C |
11: 70,856,581 (GRCm39) |
E184G |
probably benign |
Het |
| Omt2b |
T |
C |
9: 78,235,543 (GRCm39) |
F27L |
possibly damaging |
Het |
| Or10g3 |
A |
T |
14: 52,609,748 (GRCm39) |
V254E |
probably damaging |
Het |
| Or2a7 |
A |
G |
6: 43,151,369 (GRCm39) |
I150V |
probably benign |
Het |
| Or2y13 |
A |
G |
11: 49,415,072 (GRCm39) |
N174S |
probably damaging |
Het |
| Or4a15 |
G |
A |
2: 89,193,363 (GRCm39) |
R137* |
probably null |
Het |
| Or6c69b |
T |
C |
10: 129,627,254 (GRCm39) |
E68G |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pigf |
G |
A |
17: 87,304,967 (GRCm39) |
A192V |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,292,691 (GRCm39) |
|
probably null |
Het |
| Ppat |
A |
T |
5: 77,066,061 (GRCm39) |
Y352* |
probably null |
Het |
| Rapgef6 |
T |
G |
11: 54,517,164 (GRCm39) |
|
probably null |
Het |
| Sap18 |
A |
G |
14: 58,035,771 (GRCm39) |
E30G |
probably damaging |
Het |
| Snx6 |
G |
T |
12: 54,793,813 (GRCm39) |
A284E |
possibly damaging |
Het |
| Tm4sf4 |
T |
A |
3: 57,333,112 (GRCm39) |
I26N |
probably damaging |
Het |
| Traf5 |
A |
G |
1: 191,731,833 (GRCm39) |
L336P |
probably damaging |
Het |
| Ttl |
G |
A |
2: 128,931,041 (GRCm39) |
A335T |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,314,291 (GRCm39) |
|
probably null |
Het |
| Zfp74 |
G |
A |
7: 29,635,201 (GRCm39) |
T169I |
probably benign |
Het |
| Zfp937 |
A |
T |
2: 150,080,261 (GRCm39) |
H97L |
possibly damaging |
Het |
| Zzef1 |
G |
T |
11: 72,813,938 (GRCm39) |
E2842D |
probably damaging |
Het |
|
| Other mutations in Rrp15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Rrp15
|
APN |
1 |
186,453,745 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02285:Rrp15
|
APN |
1 |
186,453,592 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0413:Rrp15
|
UTSW |
1 |
186,481,346 (GRCm39) |
splice site |
probably benign |
|
|
R0548:Rrp15
|
UTSW |
1 |
186,468,431 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1449:Rrp15
|
UTSW |
1 |
186,468,465 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1966:Rrp15
|
UTSW |
1 |
186,468,402 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5318:Rrp15
|
UTSW |
1 |
186,453,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5982:Rrp15
|
UTSW |
1 |
186,471,952 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6396:Rrp15
|
UTSW |
1 |
186,469,783 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7176:Rrp15
|
UTSW |
1 |
186,453,730 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7822:Rrp15
|
UTSW |
1 |
186,481,373 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8911:Rrp15
|
UTSW |
1 |
186,453,641 (GRCm39) |
missense |
unknown |
|
|
R9210:Rrp15
|
UTSW |
1 |
186,471,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9429:Rrp15
|
UTSW |
1 |
186,481,368 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9625:Rrp15
|
UTSW |
1 |
186,453,718 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCATCTCAGTAACAGCTGAC -3'
(R):5'- AACTGTTCCGGAACTAGAGGAG -3'
Sequencing Primer
(F):5'- ATTAACCGTGACAGCGAG -3'
(R):5'- AGGAAGTTCCGTGTGTTGCAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation