Incidental Mutation 'R7194:Rrp12'
| ID |
559824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrp12
|
| Ensembl Gene |
ENSMUSG00000035049 |
| Gene Name |
ribosomal RNA processing 12 homolog |
| Synonyms |
|
| MMRRC Submission |
045335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R7194 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
41851290-41884612 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41859979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1034
(I1034V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038677]
|
| AlphaFold |
Q6P5B0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038677
AA Change: I1034V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: I1034V
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
A |
G |
8: 60,979,656 (GRCm39) |
I173V |
probably benign |
Het |
| Abi3bp |
C |
T |
16: 56,382,734 (GRCm39) |
R115C |
probably damaging |
Het |
| Adam18 |
A |
G |
8: 25,141,868 (GRCm39) |
S234P |
possibly damaging |
Het |
| Adam20 |
A |
G |
8: 41,249,449 (GRCm39) |
R520G |
probably benign |
Het |
| Angel2 |
C |
G |
1: 190,677,194 (GRCm39) |
T514R |
probably damaging |
Het |
| Ankar |
A |
T |
1: 72,698,192 (GRCm39) |
I954N |
probably benign |
Het |
| Ankrd7 |
A |
T |
6: 18,879,342 (GRCm39) |
Y262F |
probably benign |
Het |
| Ano8 |
C |
A |
8: 71,935,007 (GRCm39) |
L398F |
possibly damaging |
Het |
| App |
C |
T |
16: 84,822,319 (GRCm39) |
V356I |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,108,194 (GRCm39) |
E636* |
probably null |
Het |
| Cckbr |
G |
A |
7: 105,084,552 (GRCm39) |
E429K |
possibly damaging |
Het |
| Cfi |
T |
G |
3: 129,648,708 (GRCm39) |
S197R |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,263,162 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
C |
A |
1: 45,370,860 (GRCm39) |
A405D |
unknown |
Het |
| Colec12 |
A |
T |
18: 9,848,248 (GRCm39) |
N142I |
probably benign |
Het |
| Copa |
T |
C |
1: 171,947,511 (GRCm39) |
L1109P |
probably damaging |
Het |
| Cpeb3 |
T |
A |
19: 37,152,152 (GRCm39) |
M75L |
probably benign |
Het |
| Cyp2d11 |
T |
C |
15: 82,275,969 (GRCm39) |
Y204C |
probably benign |
Het |
| Defa17 |
A |
G |
8: 22,146,613 (GRCm39) |
T80A |
probably benign |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dppa5a |
C |
T |
9: 78,275,002 (GRCm39) |
|
probably null |
Het |
| Fat4 |
G |
T |
3: 38,943,033 (GRCm39) |
S642I |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,038,044 (GRCm39) |
C3899S |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,641,482 (GRCm39) |
V1869A |
probably damaging |
Het |
| Gm10308 |
A |
T |
17: 91,396,389 (GRCm39) |
I104L |
unknown |
Het |
| Gpr139 |
C |
T |
7: 118,743,896 (GRCm39) |
A230T |
possibly damaging |
Het |
| Grm8 |
T |
C |
6: 27,618,486 (GRCm39) |
N452S |
probably benign |
Het |
| Hmox1 |
T |
C |
8: 75,823,551 (GRCm39) |
V73A |
probably benign |
Het |
| Hspa4 |
A |
G |
11: 53,156,765 (GRCm39) |
F641L |
probably damaging |
Het |
| Ifi207 |
T |
G |
1: 173,557,490 (GRCm39) |
H416P |
possibly damaging |
Het |
| Igkv10-96 |
G |
T |
6: 68,609,028 (GRCm39) |
T89K |
possibly damaging |
Het |
| Kmt2d |
A |
C |
15: 98,741,714 (GRCm39) |
V4482G |
unknown |
Het |
| Krt28 |
T |
A |
11: 99,265,230 (GRCm39) |
K146* |
probably null |
Het |
| Krt82 |
T |
C |
15: 101,451,191 (GRCm39) |
N406S |
probably damaging |
Het |
| Marveld3 |
A |
T |
8: 110,686,477 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
C |
T |
11: 97,564,394 (GRCm39) |
S370L |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,585,750 (GRCm39) |
L26S |
unknown |
Het |
| Mup12 |
T |
A |
4: 60,696,734 (GRCm39) |
E48V |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,102,183 (GRCm39) |
V825I |
probably benign |
Het |
| Nipal3 |
G |
A |
4: 135,201,732 (GRCm39) |
T152I |
probably benign |
Het |
| Nrg3 |
A |
T |
14: 39,194,435 (GRCm39) |
M108K |
probably benign |
Het |
| Nup50l |
T |
G |
6: 96,141,756 (GRCm39) |
E429D |
probably benign |
Het |
| Oog3 |
A |
T |
4: 143,889,169 (GRCm39) |
I3N |
probably damaging |
Het |
| Or10d4c |
G |
A |
9: 39,558,387 (GRCm39) |
V122I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,827,792 (GRCm39) |
W122R |
|
Het |
| Pkhd1l1 |
T |
C |
15: 44,392,512 (GRCm39) |
C1616R |
probably damaging |
Het |
| Ppa2 |
T |
A |
3: 133,053,953 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
T |
A |
7: 107,322,187 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
T |
C |
7: 126,385,653 (GRCm39) |
N229D |
probably damaging |
Het |
| Ptpn9 |
T |
C |
9: 56,929,570 (GRCm39) |
F96L |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,241,094 (GRCm39) |
V742A |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,312,591 (GRCm39) |
T1104A |
probably benign |
Het |
| Rasal1 |
G |
A |
5: 120,813,557 (GRCm39) |
A644T |
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,810,261 (GRCm39) |
T139S |
possibly damaging |
Het |
| Rfx5 |
T |
A |
3: 94,862,454 (GRCm39) |
I37N |
probably damaging |
Het |
| Rnf112 |
C |
T |
11: 61,341,683 (GRCm39) |
G374R |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,447,538 (GRCm39) |
Y3195N |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,215,062 (GRCm39) |
I1243T |
probably benign |
Het |
| Sirt7 |
A |
T |
11: 120,509,799 (GRCm39) |
C362S |
probably benign |
Het |
| Slc17a6 |
T |
A |
7: 51,276,640 (GRCm39) |
S130T |
probably damaging |
Het |
| Snrnp48 |
A |
C |
13: 38,393,875 (GRCm39) |
Y60S |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,060,859 (GRCm39) |
E7260G |
probably damaging |
Het |
| Trbv15 |
C |
T |
6: 41,118,529 (GRCm39) |
T95I |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,771,943 (GRCm39) |
N68K |
probably benign |
Het |
| Ugcg |
A |
G |
4: 59,213,210 (GRCm39) |
Y132C |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,304,672 (GRCm39) |
C2391S |
probably damaging |
Het |
| Vmn1r103 |
C |
A |
7: 20,244,438 (GRCm39) |
V8L |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,649 (GRCm39) |
N403I |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,827,551 (GRCm39) |
S1006P |
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 |
|
R4698:Rrp12
|
UTSW |
19 |
41,861,481 (GRCm39) |
missense |
probably benign |
0.12 |
|
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 |
|
|
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'- GCACTGCCAGGACAGAATTTG -3'
(R):5'- TGTTCATCAAGTTCACCCGC -3'
Sequencing Primer
(F):5'- CCAGGACAGAATTTGGGTGG -3'
(R):5'- AAGTTCACCCGCAAGTTTGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation