Incidental Mutation 'R1642:Rrp12'
| ID |
173648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrp12
|
| Ensembl Gene |
ENSMUSG00000035049 |
| Gene Name |
ribosomal RNA processing 12 homolog |
| Synonyms |
|
| MMRRC Submission |
039678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R1642 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
41851290-41884612 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41860176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1016
(F1016L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038677]
|
| AlphaFold |
Q6P5B0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038677
AA Change: F1016L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: F1016L
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
G |
10: 28,862,233 (GRCm39) |
V19A |
probably benign |
Het |
| 6820408C15Rik |
T |
C |
2: 152,282,774 (GRCm39) |
Y210H |
probably damaging |
Het |
| Aars1 |
T |
A |
8: 111,769,882 (GRCm39) |
I327N |
possibly damaging |
Het |
| Abca6 |
T |
A |
11: 110,109,107 (GRCm39) |
N688Y |
possibly damaging |
Het |
| Ablim3 |
T |
C |
18: 61,947,382 (GRCm39) |
K457R |
probably benign |
Het |
| Acsm2 |
A |
T |
7: 119,162,860 (GRCm39) |
N45Y |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,373,917 (GRCm39) |
S108P |
probably damaging |
Het |
| Akr1cl |
A |
T |
1: 65,060,588 (GRCm39) |
M174K |
probably benign |
Het |
| Armh4 |
T |
C |
14: 50,005,867 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
G |
A |
2: 143,683,683 (GRCm39) |
R214W |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,343 (GRCm39) |
D183G |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,532,107 (GRCm39) |
D566G |
possibly damaging |
Het |
| Colgalt1 |
A |
G |
8: 72,073,401 (GRCm39) |
I341V |
probably benign |
Het |
| Cyp2c38 |
T |
A |
19: 39,390,153 (GRCm39) |
D349V |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,406,399 (GRCm39) |
I18F |
unknown |
Het |
| Degs2 |
C |
T |
12: 108,658,451 (GRCm39) |
C176Y |
probably benign |
Het |
| Dhx16 |
A |
T |
17: 36,201,957 (GRCm39) |
T995S |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,679,415 (GRCm39) |
C521S |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,559,203 (GRCm39) |
S532P |
probably benign |
Het |
| Dpysl4 |
T |
G |
7: 138,670,254 (GRCm39) |
M124R |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,727,001 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
A |
T |
1: 68,370,393 (GRCm39) |
V395D |
probably damaging |
Het |
| Esf1 |
T |
C |
2: 140,000,406 (GRCm39) |
D460G |
possibly damaging |
Het |
| F830045P16Rik |
G |
A |
2: 129,305,634 (GRCm39) |
H247Y |
probably benign |
Het |
| Fsbp |
T |
A |
4: 11,583,965 (GRCm39) |
S221R |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,317,929 (GRCm39) |
N198K |
possibly damaging |
Het |
| Gemin5 |
G |
T |
11: 58,029,906 (GRCm39) |
H855Q |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 98,873,535 (GRCm39) |
E103G |
probably benign |
Het |
| I0C0044D17Rik |
A |
G |
4: 98,708,471 (GRCm39) |
|
probably benign |
Het |
| Iqca1l |
C |
A |
5: 24,757,686 (GRCm39) |
R177L |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,898,183 (GRCm39) |
R1646W |
probably damaging |
Het |
| Klri2 |
A |
T |
6: 129,715,837 (GRCm39) |
C121S |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,806,008 (GRCm39) |
Y703C |
probably damaging |
Het |
| Lrrc10 |
A |
G |
10: 116,881,788 (GRCm39) |
N154S |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,050,317 (GRCm39) |
F812L |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,380,010 (GRCm39) |
Y1564C |
probably damaging |
Het |
| Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,794,485 (GRCm39) |
M23V |
probably benign |
Het |
| Nnt |
A |
G |
13: 119,541,086 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
G |
C |
19: 46,067,461 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
A |
T |
8: 32,314,536 (GRCm39) |
M289K |
probably benign |
Het |
| Oas3 |
G |
T |
5: 120,915,639 (GRCm39) |
H17Q |
possibly damaging |
Het |
| Or10h1 |
A |
G |
17: 33,418,430 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or2z2 |
A |
G |
11: 58,346,664 (GRCm39) |
I37T |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,201 (GRCm39) |
K6E |
probably benign |
Het |
| Or8g36 |
C |
T |
9: 39,422,650 (GRCm39) |
R122H |
possibly damaging |
Het |
| Parp9 |
T |
C |
16: 35,788,067 (GRCm39) |
Y612H |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,332,283 (GRCm39) |
M240K |
possibly damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,533,987 (GRCm39) |
|
probably benign |
Het |
| Plpp2 |
A |
G |
10: 79,366,518 (GRCm39) |
V42A |
probably damaging |
Het |
| Ppic |
C |
T |
18: 53,540,134 (GRCm39) |
V172M |
probably damaging |
Het |
| Ppp1r9b |
A |
G |
11: 94,892,150 (GRCm39) |
|
silent |
Het |
| Prop1 |
A |
G |
11: 50,844,152 (GRCm39) |
V27A |
possibly damaging |
Het |
| Psmc5 |
A |
G |
11: 106,153,242 (GRCm39) |
T295A |
probably benign |
Het |
| Rpa1 |
A |
G |
11: 75,203,517 (GRCm39) |
|
probably null |
Het |
| Scn2a |
A |
T |
2: 65,514,041 (GRCm39) |
I242F |
probably damaging |
Het |
| Slco1a6 |
T |
A |
6: 142,032,160 (GRCm39) |
H655L |
probably benign |
Het |
| Sp140 |
G |
A |
1: 85,538,545 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,298,694 (GRCm39) |
I1071T |
possibly damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,040,659 (GRCm39) |
D392G |
probably damaging |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tgm3 |
T |
A |
2: 129,889,702 (GRCm39) |
V632E |
probably damaging |
Het |
| Triobp |
C |
A |
15: 78,886,348 (GRCm39) |
R1830S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,400,329 (GRCm39) |
T1266A |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,880,930 (GRCm39) |
I285V |
possibly 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 |
|
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 |
|
|
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'- CACCAACTCGAATCTGAGTGGGAC -3'
(R):5'- TCGCCTCGGAAGGATAATCACAGC -3'
Sequencing Primer
(F):5'- CAGAGAAGAGTTGTCTAGAGGTTGC -3'
(R):5'- GAACAGGGCAGCCAGTACC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation