Incidental Mutation 'R6266:Rrp8'
| ID |
507007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrp8
|
| Ensembl Gene |
ENSMUSG00000030888 |
| Gene Name |
ribosomal RNA processing 8 |
| Synonyms |
1500003O22Rik, 2900001K19Rik |
| MMRRC Submission |
044378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R6266 (G1)
|
| Quality Score |
164.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
105380937-105386592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105385596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 3
(E3G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033179]
[ENSMUST00000033182]
[ENSMUST00000098148]
[ENSMUST00000136687]
[ENSMUST00000149695]
[ENSMUST00000141116]
[ENSMUST00000163389]
|
| AlphaFold |
Q9DB85 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033179
AA Change: E3G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033179
Gene: ENSMUSG00000030888
AA Change: E3G
| 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 benign
Transcript: ENSMUST00000098148
|
| SMART Domains |
Protein: ENSMUSP00000095752
Gene: ENSMUSG00000030888
| 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: 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: ENSMUST00000148971
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149695
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151108
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152508
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000154852
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,320,206 (GRCm39) |
T295A |
probably benign |
Het |
| Aldh2 |
C |
A |
5: 121,706,997 (GRCm39) |
V217L |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,123,844 (GRCm39) |
R392C |
probably damaging |
Het |
| Aurkaip1 |
T |
G |
4: 155,916,977 (GRCm39) |
L75R |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,149,688 (GRCm39) |
K640N |
probably benign |
Het |
| Brap |
A |
T |
5: 121,823,328 (GRCm39) |
T487S |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,601,632 (GRCm39) |
P276L |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,361,503 (GRCm39) |
E343G |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,738,647 (GRCm39) |
S1097G |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,514 (GRCm39) |
V53D |
probably damaging |
Het |
| Ddx3y |
G |
A |
Y: 1,266,635 (GRCm39) |
T274I |
probably damaging |
Homo |
| Dnah5 |
T |
A |
15: 28,335,773 (GRCm39) |
F2246L |
possibly damaging |
Het |
| Dock3 |
T |
A |
9: 106,841,952 (GRCm39) |
H959L |
probably damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,350,442 (GRCm39) |
S406P |
probably damaging |
Het |
| Efcab8 |
T |
C |
2: 153,625,688 (GRCm39) |
L116P |
probably damaging |
Het |
| Efnb2 |
T |
C |
8: 8,710,524 (GRCm39) |
I31V |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,549,911 (GRCm39) |
L271Q |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,426,683 (GRCm39) |
N1133K |
probably damaging |
Het |
| Frmpd2 |
T |
C |
14: 33,287,864 (GRCm39) |
S1219P |
probably benign |
Het |
| Gm7298 |
A |
T |
6: 121,759,663 (GRCm39) |
R1187S |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,080,414 (GRCm39) |
I136V |
probably benign |
Het |
| Hyal2 |
A |
G |
9: 107,447,914 (GRCm39) |
N189S |
probably benign |
Het |
| Jmjd1c |
C |
T |
10: 67,085,439 (GRCm39) |
P2410S |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,933,089 (GRCm39) |
D231G |
probably damaging |
Het |
| Lilra5 |
T |
A |
7: 4,244,927 (GRCm39) |
S233T |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,641,340 (GRCm39) |
F508S |
probably damaging |
Het |
| Marchf4 |
T |
C |
1: 72,491,647 (GRCm39) |
Y208C |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,566,140 (GRCm39) |
R85G |
probably damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,201,476 (GRCm39) |
C45* |
probably null |
Het |
| Or10ag2 |
T |
A |
2: 87,249,350 (GRCm39) |
S319R |
probably benign |
Het |
| Or2n1e |
A |
G |
17: 38,586,039 (GRCm39) |
I126V |
probably benign |
Het |
| Ppp2r5d |
G |
T |
17: 46,996,629 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
A |
T |
2: 53,046,639 (GRCm39) |
S324T |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,530,199 (GRCm39) |
D94G |
probably damaging |
Het |
| Psmd11 |
A |
G |
11: 80,336,767 (GRCm39) |
T140A |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,448,169 (GRCm39) |
I737T |
probably damaging |
Het |
| Rbp3 |
G |
A |
14: 33,676,418 (GRCm39) |
R122H |
probably benign |
Het |
| Relch |
T |
G |
1: 105,659,007 (GRCm39) |
|
probably null |
Het |
| Sacm1l |
T |
C |
9: 123,371,485 (GRCm39) |
S37P |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,085,099 (GRCm39) |
R939G |
possibly damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,051,814 (GRCm39) |
S608P |
possibly damaging |
Het |
| Sntg1 |
T |
C |
1: 8,624,953 (GRCm39) |
Q281R |
possibly damaging |
Het |
| Spata31d1e |
C |
T |
13: 59,890,126 (GRCm39) |
V147I |
probably benign |
Het |
| Tefm |
A |
G |
11: 80,028,814 (GRCm39) |
L194P |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,547 (GRCm39) |
V145E |
probably damaging |
Het |
| Tmem231 |
T |
A |
8: 112,641,897 (GRCm39) |
E219V |
probably null |
Het |
| Tmx3 |
T |
A |
18: 90,555,334 (GRCm39) |
|
probably null |
Het |
| Tns3 |
G |
A |
11: 8,442,987 (GRCm39) |
P459S |
probably damaging |
Het |
| Trav13d-1 |
T |
A |
14: 53,089,220 (GRCm39) |
S76R |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,681,210 (GRCm39) |
N254S |
probably damaging |
Het |
| Tsen34 |
A |
G |
7: 3,696,984 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,959,064 (GRCm39) |
V701A |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,159,411 (GRCm39) |
S513P |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,141,176 (GRCm39) |
S392T |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,899,007 (GRCm39) |
C450S |
probably benign |
Het |
| Zfp128 |
T |
C |
7: 12,624,897 (GRCm39) |
Y422H |
possibly damaging |
Het |
| Zkscan7 |
C |
T |
9: 122,724,299 (GRCm39) |
Q423* |
probably null |
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 |
|
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'- TTGGACTATCCGGATCTTCAGATC -3'
(R):5'- TACGCTCTATGGTGCTCTGC -3'
Sequencing Primer
(F):5'- ACGATAGCATTCAGGCTCTC -3'
(R):5'- TATGGTGCTCTGCTCCGCG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation