Incidental Mutation 'R4778:Rrp8'
ID |
368085 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rrp8
|
Ensembl Gene |
ENSMUSG00000030888 |
Gene Name |
ribosomal RNA processing 8 |
Synonyms |
1500003O22Rik, 2900001K19Rik |
MMRRC Submission |
042414-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.194)
|
Stock # |
R4778 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
105380937-105386592 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 105386481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130341
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033179]
[ENSMUST00000033182]
[ENSMUST00000098148]
[ENSMUST00000136687]
[ENSMUST00000149695]
[ENSMUST00000163389]
[ENSMUST00000141116]
|
AlphaFold |
Q9DB85 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033179
|
SMART Domains |
Protein: ENSMUSP00000033179 Gene: ENSMUSG00000030888
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 |
unknown
Transcript: ENSMUST00000098148
AA Change: T10S
|
SMART Domains |
Protein: ENSMUSP00000095752 Gene: ENSMUSG00000030888 AA Change: T10S
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: ENSMUST00000127298
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127738
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130565
|
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: ENSMUST00000152508
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153557
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154852
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151108
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137902
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145123
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149695
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148971
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148176
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154626
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141116
|
SMART Domains |
Protein: ENSMUSP00000118105 Gene: ENSMUSG00000043866
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
39 |
N/A |
INTRINSIC |
low complexity region
|
45 |
91 |
N/A |
INTRINSIC |
Pfam:TFIID_30kDa
|
128 |
177 |
6.1e-30 |
PFAM |
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,615,342 (GRCm39) |
N1349S |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,989,339 (GRCm39) |
V3541A |
possibly damaging |
Het |
Arhgap33 |
T |
A |
7: 30,231,518 (GRCm39) |
T156S |
probably benign |
Het |
Bltp1 |
T |
A |
3: 36,991,214 (GRCm39) |
M897K |
possibly damaging |
Het |
Card11 |
G |
T |
5: 140,869,537 (GRCm39) |
|
probably null |
Het |
Cdh3 |
T |
A |
8: 107,270,458 (GRCm39) |
I445N |
probably damaging |
Het |
Csrp3 |
T |
G |
7: 48,482,311 (GRCm39) |
K169N |
probably damaging |
Het |
Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
Czib |
T |
C |
4: 107,749,195 (GRCm39) |
V64A |
probably damaging |
Het |
Dpysl3 |
C |
T |
18: 43,487,867 (GRCm39) |
V159I |
probably benign |
Het |
Erc1 |
A |
T |
6: 119,774,298 (GRCm39) |
|
probably null |
Het |
Fat1 |
T |
C |
8: 45,491,363 (GRCm39) |
V3808A |
probably benign |
Het |
Fbxw19 |
T |
C |
9: 109,323,714 (GRCm39) |
D87G |
probably damaging |
Het |
Gm1123 |
T |
C |
9: 98,900,560 (GRCm39) |
I99V |
probably benign |
Het |
Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
Hand1 |
T |
C |
11: 57,722,449 (GRCm39) |
D55G |
possibly damaging |
Het |
Lrguk |
T |
A |
6: 34,033,015 (GRCm39) |
I227K |
probably damaging |
Het |
Mdn1 |
C |
T |
4: 32,683,583 (GRCm39) |
R726* |
probably null |
Het |
Minar1 |
T |
A |
9: 89,485,155 (GRCm39) |
I81F |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,619,694 (GRCm39) |
V1415E |
probably damaging |
Het |
Myof |
T |
C |
19: 37,938,011 (GRCm39) |
D901G |
probably damaging |
Het |
Naip1 |
A |
G |
13: 100,563,156 (GRCm39) |
Y670H |
probably damaging |
Het |
Nmd3 |
T |
A |
3: 69,638,924 (GRCm39) |
Y171* |
probably null |
Het |
Notch4 |
C |
T |
17: 34,801,485 (GRCm39) |
A1111V |
possibly damaging |
Het |
Nphp4 |
T |
A |
4: 152,640,748 (GRCm39) |
D1038E |
probably benign |
Het |
Or2ag1b |
A |
C |
7: 106,288,874 (GRCm39) |
S21R |
probably damaging |
Het |
Or5p60 |
A |
T |
7: 107,723,687 (GRCm39) |
I261N |
possibly damaging |
Het |
Osbpl10 |
C |
T |
9: 114,938,598 (GRCm39) |
S86L |
probably damaging |
Het |
Pcsk6 |
G |
A |
7: 65,608,893 (GRCm39) |
G252R |
probably damaging |
Het |
Pole |
T |
G |
5: 110,478,698 (GRCm39) |
H15Q |
probably benign |
Het |
Pstpip1 |
A |
G |
9: 56,035,904 (GRCm39) |
D383G |
possibly damaging |
Het |
Ptprq |
T |
C |
10: 107,426,883 (GRCm39) |
T1551A |
probably benign |
Het |
Rasgrf2 |
A |
G |
13: 92,131,780 (GRCm39) |
F626L |
probably damaging |
Het |
Retreg1 |
C |
A |
15: 25,971,871 (GRCm39) |
N394K |
possibly damaging |
Het |
Rpl7-ps8 |
T |
A |
15: 59,083,252 (GRCm39) |
|
noncoding transcript |
Het |
Rpp14 |
T |
A |
14: 8,090,203 (GRCm38) |
D42E |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Snx1 |
T |
C |
9: 66,008,698 (GRCm39) |
|
probably benign |
Het |
Stau1 |
A |
T |
2: 166,805,442 (GRCm39) |
N51K |
probably benign |
Het |
Tdrd5 |
T |
A |
1: 156,083,157 (GRCm39) |
D960V |
probably damaging |
Het |
Tex10 |
T |
C |
4: 48,436,468 (GRCm39) |
D750G |
probably damaging |
Het |
Tmem43 |
T |
C |
6: 91,459,237 (GRCm39) |
V236A |
probably damaging |
Het |
Tmem89 |
T |
C |
9: 108,744,443 (GRCm39) |
V112A |
probably damaging |
Het |
Traf7 |
C |
G |
17: 24,729,412 (GRCm39) |
|
probably benign |
Het |
Vmn1r41 |
A |
C |
6: 89,724,257 (GRCm39) |
K266T |
probably damaging |
Het |
Vmn2r65 |
T |
C |
7: 84,592,801 (GRCm39) |
K469E |
possibly damaging |
Het |
Zfp831 |
A |
G |
2: 174,488,600 (GRCm39) |
T1092A |
possibly damaging |
Het |
Zfp981 |
T |
A |
4: 146,622,112 (GRCm39) |
S346T |
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 |
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 |
R6353:Rrp8
|
UTSW |
7 |
105,383,325 (GRCm39) |
nonsense |
probably null |
|
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'- ACTGACACCTCTGTCCTGAG -3'
(R):5'- TCATAGAGGCTGCAAAGTTCCC -3'
Sequencing Primer
(F):5'- TCCCTCAGTCCCCCGAG -3'
(R):5'- GGAACCGGATTGTGAAACTTAG -3'
|
Posted On |
2015-12-29 |