Incidental Mutation 'R5621:Rrp12'
ID |
441593 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rrp12
|
Ensembl Gene |
ENSMUSG00000035049 |
Gene Name |
ribosomal RNA processing 12 homolog |
Synonyms |
|
MMRRC Submission |
043279-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R5621 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
41851290-41884612 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41868856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 541
(T541A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039853
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038677]
|
AlphaFold |
Q6P5B0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038677
AA Change: T541A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000039853 Gene: ENSMUSG00000035049 AA Change: T541A
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 |
|
Meta Mutation Damage Score |
0.0626 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
98% (63/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
T |
G |
17: 85,003,421 (GRCm39) |
L417R |
probably damaging |
Het |
Adrm1b |
G |
A |
3: 92,335,664 (GRCm39) |
A346V |
probably damaging |
Het |
Als2 |
A |
G |
1: 59,231,049 (GRCm39) |
V854A |
probably benign |
Het |
Bbox1 |
C |
T |
2: 110,122,868 (GRCm39) |
W140* |
probably null |
Het |
Ccdc28a |
A |
T |
10: 18,092,016 (GRCm39) |
N110K |
probably benign |
Het |
Chrna6 |
C |
T |
8: 27,897,068 (GRCm39) |
E270K |
probably damaging |
Het |
Cilp |
A |
G |
9: 65,186,073 (GRCm39) |
K723E |
possibly damaging |
Het |
Ciz1 |
C |
A |
2: 32,261,753 (GRCm39) |
A455E |
probably damaging |
Het |
Csmd3 |
T |
G |
15: 48,177,374 (GRCm39) |
H388P |
possibly damaging |
Het |
Dnajc8 |
A |
G |
4: 132,280,563 (GRCm39) |
|
probably benign |
Het |
Dnase1 |
G |
T |
16: 3,856,982 (GRCm39) |
C164F |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,120,909 (GRCm39) |
I2126K |
possibly damaging |
Het |
Epha4 |
G |
T |
1: 77,491,686 (GRCm39) |
|
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,430,175 (GRCm39) |
C201R |
probably damaging |
Het |
Fgf8 |
T |
C |
19: 45,730,821 (GRCm39) |
Y68C |
probably benign |
Het |
Gabrb1 |
A |
T |
5: 72,266,071 (GRCm39) |
I243F |
probably damaging |
Het |
Gpam |
A |
C |
19: 55,067,692 (GRCm39) |
S484A |
probably damaging |
Het |
Hectd2 |
T |
A |
19: 36,596,151 (GRCm39) |
N745K |
probably damaging |
Het |
Hspa13 |
T |
C |
16: 75,563,651 (GRCm39) |
|
probably benign |
Het |
Ints2 |
A |
G |
11: 86,133,773 (GRCm39) |
F426L |
probably benign |
Het |
Ism1 |
A |
G |
2: 139,520,641 (GRCm39) |
T18A |
probably damaging |
Het |
Itih2 |
T |
A |
2: 10,107,616 (GRCm39) |
Q650L |
probably benign |
Het |
Jmjd4 |
T |
C |
11: 59,341,219 (GRCm39) |
F50S |
probably damaging |
Het |
Kif5b |
T |
C |
18: 6,226,883 (GRCm39) |
N125S |
probably benign |
Het |
Lonp1 |
G |
C |
17: 56,927,263 (GRCm39) |
A330G |
probably benign |
Het |
Lrfn1 |
A |
G |
7: 28,166,261 (GRCm39) |
I552V |
probably damaging |
Het |
Mcph1 |
A |
G |
8: 18,682,186 (GRCm39) |
E441G |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,716,371 (GRCm39) |
H2144Q |
possibly damaging |
Het |
Mms19 |
A |
G |
19: 41,954,752 (GRCm39) |
S56P |
probably benign |
Het |
Mrgprb3 |
A |
G |
7: 48,293,116 (GRCm39) |
I145T |
probably benign |
Het |
Myh11 |
G |
A |
16: 14,062,719 (GRCm39) |
T287I |
probably damaging |
Het |
Npas2 |
A |
G |
1: 39,398,794 (GRCm39) |
T730A |
probably benign |
Het |
Or4c108 |
T |
C |
2: 88,803,810 (GRCm39) |
I142V |
probably benign |
Het |
Or4c15b |
G |
A |
2: 89,112,697 (GRCm39) |
P281L |
probably damaging |
Het |
Pcdhgb1 |
A |
G |
18: 37,815,222 (GRCm39) |
E571G |
possibly damaging |
Het |
Pcx |
T |
A |
19: 4,669,195 (GRCm39) |
V731E |
possibly damaging |
Het |
Pgm2 |
T |
A |
5: 64,269,381 (GRCm39) |
Y489* |
probably null |
Het |
Ryr3 |
C |
T |
2: 112,731,329 (GRCm39) |
W660* |
probably null |
Het |
Sertad2 |
T |
A |
11: 20,598,061 (GRCm39) |
F86I |
possibly damaging |
Het |
Slc11a1 |
G |
A |
1: 74,420,065 (GRCm39) |
G191D |
probably damaging |
Het |
Slc22a22 |
G |
T |
15: 57,122,547 (GRCm39) |
F143L |
probably benign |
Het |
Slc22a28 |
C |
T |
19: 8,048,376 (GRCm39) |
V424I |
probably benign |
Het |
Slc7a11 |
T |
G |
3: 50,393,324 (GRCm39) |
K106N |
probably damaging |
Het |
Smgc |
A |
T |
15: 91,728,623 (GRCm39) |
D121V |
probably damaging |
Het |
Sphk1 |
C |
T |
11: 116,427,192 (GRCm39) |
|
probably benign |
Het |
Spock3 |
A |
T |
8: 63,597,040 (GRCm39) |
T118S |
probably benign |
Het |
Stk17b |
G |
T |
1: 53,810,943 (GRCm39) |
S54* |
probably null |
Het |
Sycp2 |
A |
G |
2: 178,023,711 (GRCm39) |
I435T |
probably benign |
Het |
Tm2d3 |
G |
T |
7: 65,351,366 (GRCm39) |
D207Y |
probably damaging |
Het |
Top2b |
A |
T |
14: 16,387,280 (GRCm38) |
N123Y |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,677,202 (GRCm39) |
T2044A |
possibly damaging |
Het |
Usp6nl |
A |
G |
2: 6,445,243 (GRCm39) |
S407G |
probably benign |
Het |
Vmn1r195 |
G |
A |
13: 22,462,559 (GRCm39) |
V10I |
probably benign |
Het |
Zfp292 |
C |
T |
4: 34,811,703 (GRCm39) |
R447H |
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 |
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'- TGGGAAATCCAGAGTCTCCC -3'
(R):5'- TGTTATGCCAGAGCTTGATGCAG -3'
Sequencing Primer
(F):5'- CCTGTGGGAAGGGCTCAGTG -3'
(R):5'- TTGATGCAGGCAGACCTCGAC -3'
|
Posted On |
2016-11-08 |