Incidental Mutation 'R4698:Rrp12'
| ID |
355875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrp12
|
| Ensembl Gene |
ENSMUSG00000035049 |
| Gene Name |
ribosomal RNA processing 12 homolog |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R4698 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
41851290-41884612 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41861481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 942
(E942G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038677]
|
| AlphaFold |
Q6P5B0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038677
AA Change: E942G
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: E942G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
164 |
175 |
N/A |
INTRINSIC |
|
Pfam:NUC173
|
473 |
670 |
1.2e-72 |
PFAM |
|
SCOP:d1qbkb_
|
711 |
1087 |
2e-6 |
SMART |
|
low complexity region
|
1157 |
1184 |
N/A |
INTRINSIC |
|
low complexity region
|
1231 |
1243 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,349,049 (GRCm39) |
V11A |
possibly damaging |
Het |
| 6030452D12Rik |
T |
C |
8: 107,230,979 (GRCm39) |
I55T |
unknown |
Het |
| Aadacl2 |
A |
G |
3: 59,932,460 (GRCm39) |
D325G |
probably benign |
Het |
| Adh1 |
A |
G |
3: 137,988,274 (GRCm39) |
S113G |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,392,130 (GRCm39) |
|
probably null |
Het |
| Aicda |
C |
T |
6: 122,530,847 (GRCm39) |
|
probably benign |
Het |
| Aifm2 |
T |
C |
10: 61,563,535 (GRCm39) |
M135T |
probably benign |
Het |
| Asah2 |
T |
C |
19: 32,031,871 (GRCm39) |
|
probably null |
Het |
| Btbd17 |
T |
C |
11: 114,682,543 (GRCm39) |
R390G |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,705,654 (GRCm38) |
E247G |
possibly damaging |
Het |
| Cds2 |
T |
C |
2: 132,146,873 (GRCm39) |
I383T |
probably damaging |
Het |
| Celf3 |
T |
A |
3: 94,392,174 (GRCm39) |
|
probably null |
Het |
| Crhr2 |
T |
C |
6: 55,079,852 (GRCm39) |
S162G |
possibly damaging |
Het |
| Dapl1 |
A |
T |
2: 59,335,118 (GRCm39) |
K91* |
probably null |
Het |
| Ddx60 |
A |
C |
8: 62,465,458 (GRCm39) |
M1372L |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,389,358 (GRCm39) |
F845I |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,411,524 (GRCm39) |
D1784G |
probably damaging |
Het |
| Ech1 |
T |
C |
7: 28,531,478 (GRCm39) |
V310A |
probably benign |
Het |
| Eef1g |
A |
G |
19: 8,955,330 (GRCm39) |
D393G |
possibly damaging |
Het |
| Eif3k |
T |
C |
7: 28,671,969 (GRCm39) |
I172V |
possibly damaging |
Het |
| Foxd4 |
A |
G |
19: 24,877,625 (GRCm39) |
F192L |
probably damaging |
Het |
| Gpr153 |
T |
A |
4: 152,366,240 (GRCm39) |
S268R |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,394 (GRCm39) |
R129S |
probably damaging |
Het |
| Ivl |
T |
C |
3: 92,478,698 (GRCm39) |
K456E |
unknown |
Het |
| Kif20b |
A |
T |
19: 34,928,944 (GRCm39) |
D1190V |
probably damaging |
Het |
| Kif21a |
T |
A |
15: 90,840,508 (GRCm39) |
I1223L |
possibly damaging |
Het |
| Lmf1 |
T |
C |
17: 25,798,324 (GRCm39) |
V55A |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,459,987 (GRCm39) |
E659G |
possibly damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,394,930 (GRCm39) |
E165G |
possibly damaging |
Het |
| Mios |
T |
C |
6: 8,228,113 (GRCm39) |
Y677H |
possibly damaging |
Het |
| Mnx1 |
T |
A |
5: 29,679,057 (GRCm39) |
K342M |
unknown |
Het |
| Mtpap |
A |
T |
18: 4,375,724 (GRCm39) |
T35S |
possibly damaging |
Het |
| Ndc1 |
C |
G |
4: 107,268,334 (GRCm39) |
D623E |
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,336,951 (GRCm39) |
Y666C |
probably damaging |
Het |
| Or52s6 |
T |
A |
7: 103,091,842 (GRCm39) |
I163F |
possibly damaging |
Het |
| Or5ac22 |
T |
C |
16: 59,135,720 (GRCm39) |
T17A |
probably damaging |
Het |
| Or5b12b |
T |
G |
19: 12,861,985 (GRCm39) |
F247V |
probably benign |
Het |
| Or5m10b |
A |
G |
2: 85,699,596 (GRCm39) |
Y220C |
possibly damaging |
Het |
| Papss1 |
G |
T |
3: 131,313,092 (GRCm39) |
V369F |
probably damaging |
Het |
| Pcdhac2 |
T |
A |
18: 37,278,822 (GRCm39) |
Y601N |
probably damaging |
Het |
| Pde7a |
C |
T |
3: 19,365,095 (GRCm39) |
R24Q |
probably damaging |
Het |
| Phf21a |
A |
G |
2: 92,187,297 (GRCm39) |
D445G |
probably damaging |
Het |
| Plekho1 |
T |
A |
3: 95,902,964 (GRCm39) |
N15I |
possibly damaging |
Het |
| Pprc1 |
T |
C |
19: 46,057,634 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,724,061 (GRCm39) |
|
probably null |
Het |
| Skor1 |
T |
C |
9: 63,051,830 (GRCm39) |
D685G |
probably benign |
Het |
| Smim23 |
A |
T |
11: 32,774,510 (GRCm39) |
I3N |
possibly damaging |
Het |
| Spata7 |
A |
T |
12: 98,630,536 (GRCm39) |
I333F |
probably damaging |
Het |
| Sppl2c |
T |
C |
11: 104,079,141 (GRCm39) |
I647T |
probably benign |
Het |
| Srgap1 |
C |
A |
10: 121,628,392 (GRCm39) |
R837L |
probably benign |
Het |
| Stpg2 |
C |
A |
3: 139,014,990 (GRCm39) |
P385H |
probably damaging |
Het |
| Tmem238 |
C |
A |
7: 4,792,016 (GRCm39) |
E19* |
probably null |
Het |
| Top2b |
A |
T |
14: 16,387,331 (GRCm38) |
K140* |
probably null |
Het |
| Trp53 |
T |
A |
11: 69,479,248 (GRCm39) |
L142* |
probably null |
Het |
| Tyro3 |
A |
T |
2: 119,633,751 (GRCm39) |
D133V |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,528,636 (GRCm39) |
I1291N |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,507 (GRCm39) |
|
probably benign |
Het |
| Zbtb10 |
T |
C |
3: 9,329,610 (GRCm39) |
S323P |
possibly damaging |
Het |
| Zfp521 |
A |
T |
18: 13,978,660 (GRCm39) |
N584K |
probably damaging |
Het |
| Zfp944 |
A |
G |
17: 22,558,180 (GRCm39) |
C356R |
probably damaging |
Het |
|
| Other mutations in Rrp12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Rrp12
|
APN |
19 |
41,875,533 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00430:Rrp12
|
APN |
19 |
41,865,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00496:Rrp12
|
APN |
19 |
41,866,466 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00953:Rrp12
|
APN |
19 |
41,860,231 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01320:Rrp12
|
APN |
19 |
41,866,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01479:Rrp12
|
APN |
19 |
41,853,641 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01939:Rrp12
|
APN |
19 |
41,859,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02147:Rrp12
|
APN |
19 |
41,874,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02255:Rrp12
|
APN |
19 |
41,861,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Rrp12
|
APN |
19 |
41,884,500 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02793:Rrp12
|
APN |
19 |
41,860,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03026:Rrp12
|
APN |
19 |
41,861,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03202:Rrp12
|
APN |
19 |
41,857,205 (GRCm39) |
splice site |
probably null |
|
|
IGL03393:Rrp12
|
APN |
19 |
41,860,232 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0137:Rrp12
|
UTSW |
19 |
41,862,289 (GRCm39) |
missense |
probably benign |
|
|
R0234:Rrp12
|
UTSW |
19 |
41,860,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Rrp12
|
UTSW |
19 |
41,860,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0522:Rrp12
|
UTSW |
19 |
41,863,144 (GRCm39) |
splice site |
probably benign |
|
|
R0616:Rrp12
|
UTSW |
19 |
41,880,988 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1509:Rrp12
|
UTSW |
19 |
41,870,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Rrp12
|
UTSW |
19 |
41,875,242 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1593:Rrp12
|
UTSW |
19 |
41,851,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1635:Rrp12
|
UTSW |
19 |
41,857,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1642:Rrp12
|
UTSW |
19 |
41,860,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1696:Rrp12
|
UTSW |
19 |
41,862,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Rrp12
|
UTSW |
19 |
41,868,920 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1844:Rrp12
|
UTSW |
19 |
41,866,222 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1950:Rrp12
|
UTSW |
19 |
41,881,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Rrp12
|
UTSW |
19 |
41,861,376 (GRCm39) |
missense |
probably benign |
|
|
R2115:Rrp12
|
UTSW |
19 |
41,879,533 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2136:Rrp12
|
UTSW |
19 |
41,881,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2386:Rrp12
|
UTSW |
19 |
41,859,723 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3741:Rrp12
|
UTSW |
19 |
41,874,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4096:Rrp12
|
UTSW |
19 |
41,875,587 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4292:Rrp12
|
UTSW |
19 |
41,861,344 (GRCm39) |
splice site |
probably null |
|
|
R4407:Rrp12
|
UTSW |
19 |
41,880,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4629:Rrp12
|
UTSW |
19 |
41,871,955 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4702:Rrp12
|
UTSW |
19 |
41,859,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Rrp12
|
UTSW |
19 |
41,865,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Rrp12
|
UTSW |
19 |
41,865,944 (GRCm39) |
splice site |
probably null |
|
|
R5282:Rrp12
|
UTSW |
19 |
41,865,029 (GRCm39) |
missense |
probably benign |
|
|
R5327:Rrp12
|
UTSW |
19 |
41,881,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5621:Rrp12
|
UTSW |
19 |
41,868,856 (GRCm39) |
missense |
probably benign |
|
|
R5762:Rrp12
|
UTSW |
19 |
41,868,591 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5947:Rrp12
|
UTSW |
19 |
41,859,247 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6213:Rrp12
|
UTSW |
19 |
41,857,217 (GRCm39) |
missense |
probably benign |
|
|
R6407:Rrp12
|
UTSW |
19 |
41,872,181 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6980:Rrp12
|
UTSW |
19 |
41,878,582 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7179:Rrp12
|
UTSW |
19 |
41,872,217 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7186:Rrp12
|
UTSW |
19 |
41,859,744 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7194:Rrp12
|
UTSW |
19 |
41,859,979 (GRCm39) |
missense |
probably benign |
|
|
R7206:Rrp12
|
UTSW |
19 |
41,866,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7209:Rrp12
|
UTSW |
19 |
41,861,388 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7248:Rrp12
|
UTSW |
19 |
41,871,877 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7976:Rrp12
|
UTSW |
19 |
41,879,548 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8075:Rrp12
|
UTSW |
19 |
41,851,713 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8322:Rrp12
|
UTSW |
19 |
41,868,658 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9010:Rrp12
|
UTSW |
19 |
41,871,929 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9026:Rrp12
|
UTSW |
19 |
41,860,223 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9029:Rrp12
|
UTSW |
19 |
41,859,718 (GRCm39) |
nonsense |
probably null |
|
|
R9096:Rrp12
|
UTSW |
19 |
41,878,577 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9097:Rrp12
|
UTSW |
19 |
41,878,577 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9168:Rrp12
|
UTSW |
19 |
41,865,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9709:Rrp12
|
UTSW |
19 |
41,857,231 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Rrp12
|
UTSW |
19 |
41,854,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACTAATATGCCCAGAGTCCC -3'
(R):5'- CTCTGGTATCTGACAGCAGC -3'
Sequencing Primer
(F):5'- TCCCGCAGAGTCCATTCTTG -3'
(R):5'- TATCTGACAGCAGCCCCTGTG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation