Incidental Mutation 'R7209:Rrp12'
ID |
560973 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rrp12
|
Ensembl Gene |
ENSMUSG00000035049 |
Gene Name |
ribosomal RNA processing 12 homolog |
Synonyms |
|
MMRRC Submission |
045338-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R7209 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
41851290-41884612 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 41861388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 973
(V973G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039853
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038677]
|
AlphaFold |
Q6P5B0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038677
AA Change: V973G
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000039853 Gene: ENSMUSG00000035049 AA Change: V973G
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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam7 |
A |
G |
14: 68,767,268 (GRCm39) |
Y61H |
probably damaging |
Het |
Adgrb1 |
T |
G |
15: 74,441,797 (GRCm39) |
V966G |
possibly damaging |
Het |
Adh5 |
G |
A |
3: 138,148,909 (GRCm39) |
|
probably benign |
Het |
Akr1b8 |
T |
C |
6: 34,333,207 (GRCm39) |
V28A |
probably damaging |
Het |
Apbb1 |
T |
A |
7: 105,215,292 (GRCm39) |
I450F |
probably damaging |
Het |
Arhgap23 |
C |
T |
11: 97,366,911 (GRCm39) |
T1064I |
probably damaging |
Het |
Arhgap23 |
G |
C |
11: 97,383,273 (GRCm39) |
|
probably null |
Het |
Atg4b |
A |
G |
1: 93,702,955 (GRCm39) |
I128M |
probably damaging |
Het |
Baat |
A |
T |
4: 49,503,065 (GRCm39) |
I19N |
probably damaging |
Het |
Bspry |
T |
G |
4: 62,404,852 (GRCm39) |
I216S |
possibly damaging |
Het |
Commd9 |
T |
A |
2: 101,725,483 (GRCm39) |
S19T |
possibly damaging |
Het |
Cr2 |
A |
G |
1: 194,851,032 (GRCm39) |
C145R |
probably damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,677,649 (GRCm39) |
L447P |
probably damaging |
Het |
Depdc1b |
T |
C |
13: 108,519,389 (GRCm39) |
M333T |
possibly damaging |
Het |
Dhx9 |
T |
C |
1: 153,340,369 (GRCm39) |
T710A |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,459,371 (GRCm39) |
V4530A |
possibly damaging |
Het |
Dohh |
T |
A |
10: 81,221,874 (GRCm39) |
H89Q |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,566,733 (GRCm39) |
N1171K |
probably benign |
Het |
Dscam |
T |
C |
16: 96,451,544 (GRCm39) |
|
probably null |
Het |
Entpd5 |
T |
A |
12: 84,443,702 (GRCm39) |
S14C |
probably benign |
Het |
Eqtn |
G |
A |
4: 94,813,806 (GRCm39) |
S125F |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,211,704 (GRCm39) |
D197E |
probably benign |
Het |
Fgf18 |
A |
T |
11: 33,084,315 (GRCm39) |
D46E |
probably benign |
Het |
Foxa1 |
T |
A |
12: 57,590,077 (GRCm39) |
M48L |
probably benign |
Het |
Gabrg1 |
C |
A |
5: 70,911,513 (GRCm39) |
C417F |
probably damaging |
Het |
Glrp1 |
T |
A |
1: 88,431,004 (GRCm39) |
Q122L |
unknown |
Het |
Gm5622 |
A |
G |
14: 51,893,363 (GRCm39) |
I97V |
possibly damaging |
Het |
Gusb |
A |
G |
5: 130,027,387 (GRCm39) |
V306A |
probably benign |
Het |
Hars1 |
A |
G |
18: 36,906,593 (GRCm39) |
S126P |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,292,314 (GRCm39) |
S356G |
possibly damaging |
Het |
Hydin |
C |
A |
8: 111,216,424 (GRCm39) |
Y1336* |
probably null |
Het |
Iftap |
T |
C |
2: 101,396,727 (GRCm39) |
*217W |
probably null |
Het |
Kin |
T |
C |
2: 10,096,564 (GRCm39) |
Y138H |
possibly damaging |
Het |
Lypd2 |
C |
T |
15: 74,604,266 (GRCm39) |
V101M |
probably benign |
Het |
Madcam1 |
A |
T |
10: 79,500,892 (GRCm39) |
T70S |
possibly damaging |
Het |
Man1a2 |
A |
G |
3: 100,554,395 (GRCm39) |
C112R |
unknown |
Het |
Mia2 |
T |
A |
12: 59,201,176 (GRCm39) |
V198E |
possibly damaging |
Het |
Mpdz |
C |
T |
4: 81,225,114 (GRCm39) |
V1438M |
possibly damaging |
Het |
Mtif2 |
G |
A |
11: 29,479,996 (GRCm39) |
V21M |
probably benign |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Nln |
G |
A |
13: 104,209,406 (GRCm39) |
Q56* |
probably null |
Het |
Nlrp4b |
T |
C |
7: 10,444,297 (GRCm39) |
V82A |
probably benign |
Het |
Obscn |
C |
A |
11: 58,975,933 (GRCm39) |
E2065* |
probably null |
Het |
Or10g1 |
A |
G |
14: 52,647,550 (GRCm39) |
C260R |
possibly damaging |
Het |
Pilrb2 |
C |
T |
5: 137,869,126 (GRCm39) |
|
probably null |
Het |
Plekhh1 |
C |
A |
12: 79,097,150 (GRCm39) |
D99E |
probably benign |
Het |
Polr2b |
T |
A |
5: 77,491,026 (GRCm39) |
F956I |
probably damaging |
Het |
Ppp3cc |
A |
G |
14: 70,504,947 (GRCm39) |
F20L |
probably benign |
Het |
Prmt9 |
T |
C |
8: 78,291,627 (GRCm39) |
V333A |
probably benign |
Het |
Psd4 |
T |
C |
2: 24,287,357 (GRCm39) |
S430P |
probably damaging |
Het |
Relch |
C |
A |
1: 105,678,082 (GRCm39) |
P1136T |
probably damaging |
Het |
Rxfp2 |
A |
G |
5: 149,976,563 (GRCm39) |
|
probably null |
Het |
S100a6 |
G |
A |
3: 90,521,095 (GRCm39) |
A8T |
possibly damaging |
Het |
Sgsm2 |
C |
A |
11: 74,745,151 (GRCm39) |
G717V |
probably damaging |
Het |
Sipa1 |
A |
G |
19: 5,705,003 (GRCm39) |
Y531H |
probably damaging |
Het |
Slc45a1 |
A |
C |
4: 150,719,669 (GRCm39) |
|
probably null |
Het |
Spopfm3 |
A |
T |
3: 94,106,012 (GRCm39) |
Q110L |
probably benign |
Het |
Srbd1 |
C |
A |
17: 86,308,948 (GRCm39) |
L743F |
probably damaging |
Het |
Taar2 |
A |
T |
10: 23,816,597 (GRCm39) |
I46F |
possibly damaging |
Het |
Tmem241 |
A |
T |
18: 12,237,229 (GRCm39) |
V69D |
probably damaging |
Het |
Tns1 |
T |
C |
1: 73,993,074 (GRCm39) |
S535G |
possibly damaging |
Het |
Trgc3 |
A |
G |
13: 19,445,334 (GRCm39) |
N94S |
probably benign |
Het |
Ttc34 |
C |
A |
4: 154,923,585 (GRCm39) |
P98Q |
probably damaging |
Het |
Ubr1 |
C |
A |
2: 120,693,246 (GRCm39) |
R1720L |
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,846,478 (GRCm39) |
D1597E |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,091,883 (GRCm39) |
M1930T |
probably benign |
Het |
Vmn2r100 |
A |
T |
17: 19,751,576 (GRCm39) |
I603F |
not run |
Het |
Vps26b |
A |
T |
9: 26,921,288 (GRCm39) |
S304T |
probably benign |
Het |
Zfp952 |
A |
T |
17: 33,222,444 (GRCm39) |
T308S |
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 |
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 |
|
R7194:Rrp12
|
UTSW |
19 |
41,859,979 (GRCm39) |
missense |
probably benign |
|
R7206:Rrp12
|
UTSW |
19 |
41,866,478 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TCTCCTACAAGCCCCTCTAAGG -3'
(R):5'- AGGCTCTGGTATCTGACAGC -3'
Sequencing Primer
(F):5'- AAGGCTCCTTAATGTCCTTCTG -3'
(R):5'- TCTGGTATCTGACAGCAGCCC -3'
|
Posted On |
2019-06-26 |