Incidental Mutation 'R6353:Rrp8'
| ID |
512298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrp8
|
| Ensembl Gene |
ENSMUSG00000030888 |
| Gene Name |
ribosomal RNA processing 8 |
| Synonyms |
1500003O22Rik, 2900001K19Rik |
| MMRRC Submission |
044505-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R6353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
105380937-105386592 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 105383325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 314
(R314*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033179]
[ENSMUST00000033182]
[ENSMUST00000098148]
[ENSMUST00000136687]
[ENSMUST00000149695]
[ENSMUST00000163389]
|
| AlphaFold |
Q9DB85 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033179
AA Change: R268*
|
| SMART Domains |
Protein: ENSMUSP00000033179
Gene: ENSMUSG00000030888
AA Change: R268*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
186 |
202 |
N/A |
INTRINSIC |
|
Pfam:Methyltransf_8
|
238 |
457 |
2.4e-107 |
PFAM |
|
Pfam:Methyltransf_11
|
314 |
391 |
2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033182
|
| SMART Domains |
Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
33 |
62 |
4.71e-6 |
SMART |
|
ANK
|
66 |
95 |
1.04e-7 |
SMART |
|
ANK
|
99 |
128 |
1.02e-1 |
SMART |
|
Pfam:Pkinase
|
193 |
445 |
1.5e-25 |
PFAM |
|
Pfam:Pkinase_Tyr
|
193 |
446 |
7.2e-40 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000098148
AA Change: R314*
|
| SMART Domains |
Protein: ENSMUSP00000095752
Gene: ENSMUSG00000030888
AA Change: R314*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
232 |
248 |
N/A |
INTRINSIC |
|
Pfam:Methyltransf_8
|
284 |
503 |
7.5e-107 |
PFAM |
|
Pfam:Methyltransf_11
|
348 |
437 |
2.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127738
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136687
|
| SMART Domains |
Protein: ENSMUSP00000123443
Gene: ENSMUSG00000030890
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
33 |
62 |
4.71e-6 |
SMART |
|
ANK
|
66 |
95 |
1.04e-7 |
SMART |
|
ANK
|
99 |
128 |
1.02e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145123
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149695
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154852
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163389
|
| SMART Domains |
Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
33 |
62 |
4.71e-6 |
SMART |
|
ANK
|
66 |
95 |
1.04e-7 |
SMART |
|
ANK
|
99 |
128 |
1.02e-1 |
SMART |
|
Pfam:Pkinase_Tyr
|
193 |
446 |
4e-39 |
PFAM |
|
Pfam:Pkinase
|
195 |
445 |
3e-23 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
C |
A |
9: 53,325,642 (GRCm39) |
Q60K |
probably benign |
Het |
| Aadacl2fm2 |
A |
T |
3: 59,659,529 (GRCm39) |
L327F |
probably damaging |
Het |
| Aamp |
T |
C |
1: 74,319,987 (GRCm39) |
D397G |
probably benign |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Acta1 |
T |
C |
8: 124,620,426 (GRCm39) |
E4G |
probably benign |
Het |
| Apob |
A |
T |
12: 8,059,421 (GRCm39) |
K2601N |
probably damaging |
Het |
| Arpin |
C |
A |
7: 79,585,093 (GRCm39) |
|
probably benign |
Het |
| Asnsd1 |
T |
C |
1: 53,386,938 (GRCm39) |
I230V |
probably benign |
Het |
| Baiap2l1 |
C |
T |
5: 144,218,898 (GRCm39) |
E237K |
possibly damaging |
Het |
| Chek1 |
T |
C |
9: 36,635,255 (GRCm39) |
K43E |
probably benign |
Het |
| Clec2g |
T |
A |
6: 128,959,895 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
A |
G |
9: 114,426,614 (GRCm39) |
L646P |
probably damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,474,135 (GRCm39) |
T102A |
probably benign |
Het |
| Dnase1l2 |
A |
T |
17: 24,661,219 (GRCm39) |
L30Q |
probably damaging |
Het |
| Edc3 |
T |
C |
9: 57,623,520 (GRCm39) |
S152P |
probably benign |
Het |
| Gask1b |
A |
T |
3: 79,848,647 (GRCm39) |
R464S |
probably damaging |
Het |
| Gpr160 |
A |
T |
3: 30,950,171 (GRCm39) |
D81V |
probably damaging |
Het |
| Intu |
A |
T |
3: 40,608,138 (GRCm39) |
D32V |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,260,950 (GRCm39) |
E512G |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,131,760 (GRCm39) |
F561L |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,698,243 (GRCm39) |
V645E |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,836,909 (GRCm39) |
F247S |
probably damaging |
Het |
| Nek9 |
G |
A |
12: 85,348,603 (GRCm39) |
T977I |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,173,969 (GRCm39) |
T1015A |
probably damaging |
Het |
| Ntmt2 |
A |
G |
1: 163,531,680 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Nudcd1 |
T |
C |
15: 44,284,158 (GRCm39) |
Y76C |
probably damaging |
Het |
| Or2a54 |
C |
A |
6: 43,093,070 (GRCm39) |
Y131* |
probably null |
Het |
| Or8b44 |
T |
C |
9: 38,410,112 (GRCm39) |
I49T |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Prl7c1 |
A |
G |
13: 27,957,709 (GRCm39) |
S244P |
possibly damaging |
Het |
| Rpap1 |
G |
T |
2: 119,607,377 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
T |
A |
9: 21,590,445 (GRCm39) |
|
probably null |
Het |
| Stambpl1 |
A |
G |
19: 34,211,520 (GRCm39) |
|
probably null |
Het |
| Tmeff2 |
T |
C |
1: 51,220,985 (GRCm39) |
V320A |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,416,671 (GRCm38) |
K83E |
probably damaging |
Het |
| Ttc39b |
C |
G |
4: 83,148,730 (GRCm39) |
V560L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,672,153 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,913,107 (GRCm39) |
I934V |
probably benign |
Het |
| Uxs1 |
T |
C |
1: 43,836,410 (GRCm39) |
I122V |
probably damaging |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,944 (GRCm39) |
N267S |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,119 (GRCm39) |
N331D |
probably benign |
Het |
|
| Other mutations in Rrp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Rrp8
|
APN |
7 |
105,382,223 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02792:Rrp8
|
APN |
7 |
105,383,018 (GRCm39) |
nonsense |
probably null |
|
|
IGL03010:Rrp8
|
APN |
7 |
105,383,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03404:Rrp8
|
APN |
7 |
105,384,145 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL03046:Rrp8
|
UTSW |
7 |
105,384,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0682:Rrp8
|
UTSW |
7 |
105,383,218 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2314:Rrp8
|
UTSW |
7 |
105,384,011 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4222:Rrp8
|
UTSW |
7 |
105,383,229 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4778:Rrp8
|
UTSW |
7 |
105,386,481 (GRCm39) |
intron |
probably benign |
|
|
R4940:Rrp8
|
UTSW |
7 |
105,383,284 (GRCm39) |
nonsense |
probably null |
|
|
R5315:Rrp8
|
UTSW |
7 |
105,383,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5480:Rrp8
|
UTSW |
7 |
105,383,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5630:Rrp8
|
UTSW |
7 |
105,382,608 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6266:Rrp8
|
UTSW |
7 |
105,385,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Rrp8
|
UTSW |
7 |
105,384,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7070:Rrp8
|
UTSW |
7 |
105,384,083 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7092:Rrp8
|
UTSW |
7 |
105,383,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Rrp8
|
UTSW |
7 |
105,385,727 (GRCm39) |
unclassified |
probably benign |
|
|
R8686:Rrp8
|
UTSW |
7 |
105,382,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8806:Rrp8
|
UTSW |
7 |
105,384,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Rrp8
|
UTSW |
7 |
105,384,073 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8928:Rrp8
|
UTSW |
7 |
105,384,073 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9299:Rrp8
|
UTSW |
7 |
105,383,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9337:Rrp8
|
UTSW |
7 |
105,383,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9542:Rrp8
|
UTSW |
7 |
105,382,606 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACCACTAAGGATGCAGGCCTG -3'
(R):5'- TCCTCCCAAGGCTTCCATAG -3'
Sequencing Primer
(F):5'- GCCACTTACTGGTCTGGTCAAAG -3'
(R):5'- TAGAGGAGACTGAGGTGCCTCC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation