Incidental Mutation 'R2314:Rrp8'
| ID |
245410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrp8
|
| Ensembl Gene |
ENSMUSG00000030888 |
| Gene Name |
ribosomal RNA processing 8 |
| Synonyms |
1500003O22Rik, 2900001K19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R2314 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
105380937-105386592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105384011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 164
(R164G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033179]
[ENSMUST00000033182]
[ENSMUST00000098148]
[ENSMUST00000136687]
[ENSMUST00000141116]
[ENSMUST00000149695]
[ENSMUST00000163389]
|
| AlphaFold |
Q9DB85 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033179
AA Change: R118G
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000033179
Gene: ENSMUSG00000030888
AA Change: R118G
| 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
AA Change: R164G
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000095752
Gene: ENSMUSG00000030888
AA Change: R164G
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000154852
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145123
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149695
|
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
G |
9: 4,309,322 (GRCm39) |
S39P |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Anxa6 |
T |
A |
11: 54,902,561 (GRCm39) |
I58F |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,181,763 (GRCm39) |
K582* |
probably null |
Het |
| Cebpz |
A |
G |
17: 79,227,976 (GRCm39) |
|
probably null |
Het |
| Clstn3 |
T |
A |
6: 124,427,676 (GRCm39) |
D473V |
probably benign |
Het |
| Cry1 |
A |
T |
10: 84,969,175 (GRCm39) |
C550S |
probably benign |
Het |
| Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
| Dolk |
G |
T |
2: 30,175,497 (GRCm39) |
L183M |
probably damaging |
Het |
| Dpys |
T |
C |
15: 39,691,486 (GRCm39) |
T279A |
possibly damaging |
Het |
| Drd4 |
T |
C |
7: 140,873,854 (GRCm39) |
Y140H |
probably damaging |
Het |
| Duox1 |
C |
A |
2: 122,164,211 (GRCm39) |
C890* |
probably null |
Het |
| Epha2 |
T |
A |
4: 141,046,325 (GRCm39) |
V508E |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
| Fgfr1 |
C |
T |
8: 26,060,909 (GRCm39) |
S527F |
probably damaging |
Het |
| Flywch1 |
A |
G |
17: 23,982,000 (GRCm39) |
V68A |
probably benign |
Het |
| Gm21834 |
A |
T |
17: 58,049,210 (GRCm39) |
V2E |
possibly damaging |
Het |
| Gm7853 |
A |
T |
14: 35,811,621 (GRCm39) |
|
noncoding transcript |
Het |
| Igf2r |
T |
A |
17: 12,934,830 (GRCm39) |
H713L |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 88,023,338 (GRCm39) |
V543A |
probably benign |
Het |
| Kcnq5 |
T |
A |
1: 21,549,595 (GRCm39) |
|
probably null |
Het |
| Lsm1 |
C |
T |
8: 26,275,712 (GRCm39) |
P5S |
possibly damaging |
Het |
| Marchf1 |
T |
C |
8: 66,574,442 (GRCm39) |
M1T |
probably null |
Het |
| Myocd |
T |
C |
11: 65,091,633 (GRCm39) |
H103R |
probably damaging |
Het |
| Myom2 |
C |
T |
8: 15,113,927 (GRCm39) |
T25I |
probably damaging |
Het |
| Nck1 |
T |
C |
9: 100,380,003 (GRCm39) |
K83E |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,839,829 (GRCm39) |
D806G |
probably benign |
Het |
| Onecut2 |
G |
T |
18: 64,474,268 (GRCm39) |
R254L |
probably damaging |
Het |
| Or51k1 |
T |
A |
7: 103,661,436 (GRCm39) |
M158L |
probably benign |
Het |
| Plxna1 |
A |
C |
6: 89,301,298 (GRCm39) |
L1534R |
probably damaging |
Het |
| Polb |
C |
A |
8: 23,130,018 (GRCm39) |
A185S |
possibly damaging |
Het |
| Pou3f3 |
T |
C |
1: 42,737,651 (GRCm39) |
V449A |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,640,145 (GRCm39) |
T275I |
probably damaging |
Het |
| Rab18 |
C |
A |
18: 6,788,516 (GRCm39) |
A161D |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,445,208 (GRCm39) |
I2418K |
probably benign |
Het |
| Scrn1 |
T |
C |
6: 54,502,631 (GRCm39) |
E136G |
probably benign |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Slitrk6 |
C |
T |
14: 110,989,387 (GRCm39) |
A107T |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,723,783 (GRCm39) |
S466G |
probably benign |
Het |
| Tktl2 |
T |
A |
8: 66,965,795 (GRCm39) |
F451Y |
probably damaging |
Het |
| Tnks1bp1 |
G |
A |
2: 84,889,259 (GRCm39) |
V529M |
probably benign |
Het |
| Trps1 |
T |
C |
15: 50,524,742 (GRCm39) |
K874E |
probably damaging |
Het |
| Ttll9 |
T |
A |
2: 152,825,047 (GRCm39) |
D75E |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,596,368 (GRCm39) |
Y20182H |
probably damaging |
Het |
| Ufc1 |
A |
T |
1: 171,116,821 (GRCm39) |
C116S |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,149,976 (GRCm39) |
K158E |
possibly damaging |
Het |
| Zfp81 |
A |
G |
17: 33,553,597 (GRCm39) |
Y406H |
probably damaging |
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 |
|
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 |
|
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'- TCTATGCAGTCAGTTCACAGC -3'
(R):5'- ATCTCTTGGCCACATTACGGG -3'
Sequencing Primer
(F):5'- AGTCAGTTCACAGCCTCCC -3'
(R):5'- CACATTACGGGCTCTGGAAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation