Incidental Mutation 'R9010:Rrp12'
| ID |
685606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrp12
|
| Ensembl Gene |
ENSMUSG00000035049 |
| Gene Name |
ribosomal RNA processing 12 homolog |
| Synonyms |
|
| MMRRC Submission |
068840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R9010 (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 A
at 41871929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 452
(I452F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038677]
|
| AlphaFold |
Q6P5B0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038677
AA Change: I452F
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: I452F
| 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: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,119,504 (GRCm39) |
M87K |
possibly damaging |
Het |
| Angel1 |
T |
C |
12: 86,770,153 (GRCm39) |
S36G |
possibly damaging |
Het |
| Apol6 |
A |
G |
15: 76,935,697 (GRCm39) |
H322R |
unknown |
Het |
| Arfgef2 |
G |
A |
2: 166,701,284 (GRCm39) |
R694Q |
probably damaging |
Het |
| Bank1 |
A |
T |
3: 135,761,559 (GRCm39) |
N748K |
probably benign |
Het |
| Bptf |
A |
T |
11: 106,964,576 (GRCm39) |
D1539E |
probably damaging |
Het |
| Bst1 |
T |
C |
5: 43,982,695 (GRCm39) |
I180T |
possibly damaging |
Het |
| Cabin1 |
C |
A |
10: 75,570,892 (GRCm39) |
E795* |
probably null |
Het |
| Ccdc168 |
A |
G |
1: 44,100,633 (GRCm39) |
V155A |
possibly damaging |
Het |
| Cckar |
T |
A |
5: 53,857,163 (GRCm39) |
T416S |
probably damaging |
Het |
| Ccng2 |
G |
T |
5: 93,416,616 (GRCm39) |
E46* |
probably null |
Het |
| Ceacam9 |
T |
C |
7: 16,455,916 (GRCm39) |
S8P |
probably benign |
Het |
| Cercam |
G |
A |
2: 29,766,071 (GRCm39) |
D317N |
possibly damaging |
Het |
| Cfap54 |
T |
A |
10: 92,734,921 (GRCm39) |
M2377L |
unknown |
Het |
| Cgnl1 |
A |
T |
9: 71,558,631 (GRCm39) |
L914H |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Clec2g |
T |
A |
6: 128,925,688 (GRCm39) |
F32L |
unknown |
Het |
| Cntnap5c |
A |
T |
17: 58,671,159 (GRCm39) |
M1116L |
probably benign |
Het |
| Col11a2 |
C |
A |
17: 34,283,760 (GRCm39) |
F1516L |
unknown |
Het |
| Crb2 |
A |
G |
2: 37,680,698 (GRCm39) |
E542G |
probably benign |
Het |
| Crisp1 |
A |
T |
17: 40,616,101 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
G |
A |
16: 59,374,702 (GRCm39) |
T470M |
probably damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eif1ad |
T |
A |
19: 5,418,726 (GRCm39) |
V93D |
possibly damaging |
Het |
| Entpd3 |
T |
C |
9: 120,384,825 (GRCm39) |
I134T |
probably benign |
Het |
| Garre1 |
A |
T |
7: 33,938,491 (GRCm39) |
C1015S |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,282,011 (GRCm39) |
M1865V |
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,277,146 (GRCm39) |
E728G |
probably benign |
Het |
| Heatr5b |
C |
A |
17: 79,081,139 (GRCm39) |
S1371I |
probably damaging |
Het |
| Ighv1-4 |
A |
T |
12: 114,450,949 (GRCm39) |
M53K |
possibly damaging |
Het |
| Itch |
A |
T |
2: 155,020,991 (GRCm39) |
T169S |
probably benign |
Het |
| Kifc2 |
A |
G |
15: 76,550,885 (GRCm39) |
N587S |
possibly damaging |
Het |
| Klk1b16 |
A |
T |
7: 43,790,177 (GRCm39) |
D149V |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lefty2 |
T |
A |
1: 180,722,172 (GRCm39) |
I170N |
probably damaging |
Het |
| Lrrc14b |
A |
G |
13: 74,509,151 (GRCm39) |
F419L |
possibly damaging |
Het |
| Mkrn2 |
T |
A |
6: 115,591,583 (GRCm39) |
V302E |
possibly damaging |
Het |
| Msh4 |
T |
C |
3: 153,595,819 (GRCm39) |
K271R |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,226,351 (GRCm39) |
T1559A |
unknown |
Het |
| Naa16 |
T |
G |
14: 79,607,482 (GRCm39) |
R289S |
probably benign |
Het |
| Nab1 |
T |
A |
1: 52,529,610 (GRCm39) |
I96F |
possibly damaging |
Het |
| Ntn4 |
T |
C |
10: 93,480,506 (GRCm39) |
C77R |
|
Het |
| Nusap1 |
A |
G |
2: 119,479,456 (GRCm39) |
T424A |
possibly damaging |
Het |
| Or1p1 |
G |
T |
11: 74,180,305 (GRCm39) |
V278F |
probably damaging |
Het |
| Or2w6 |
A |
G |
13: 21,842,681 (GRCm39) |
Y271H |
probably damaging |
Het |
| Or4e2 |
T |
A |
14: 52,688,556 (GRCm39) |
S229T |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,949,894 (GRCm39) |
D267G |
probably benign |
Het |
| P2ry2 |
A |
C |
7: 100,647,358 (GRCm39) |
F316V |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,663,924 (GRCm39) |
T426A |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,883,192 (GRCm39) |
D845V |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,471,217 (GRCm39) |
F996S |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,024,591 (GRCm39) |
M303V |
possibly damaging |
Het |
| Prelid2 |
A |
T |
18: 42,065,781 (GRCm39) |
W85R |
probably damaging |
Het |
| Rabep1 |
G |
A |
11: 70,810,034 (GRCm39) |
R532H |
probably damaging |
Het |
| Rabgap1l |
G |
A |
1: 160,528,443 (GRCm39) |
R388W |
possibly damaging |
Het |
| Rad51ap2 |
G |
T |
12: 11,508,675 (GRCm39) |
V866L |
probably benign |
Het |
| Rassf3 |
C |
A |
10: 121,311,991 (GRCm39) |
E9* |
probably null |
Het |
| Rbbp4 |
A |
C |
4: 129,216,180 (GRCm39) |
L189R |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,315,786 (GRCm39) |
C597* |
probably null |
Het |
| Snx29 |
G |
A |
16: 11,449,391 (GRCm39) |
A279T |
probably benign |
Het |
| Tdh |
C |
T |
14: 63,737,704 (GRCm39) |
S17N |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,879,371 (GRCm39) |
D555G |
possibly damaging |
Het |
| Thbs1 |
A |
C |
2: 117,953,045 (GRCm39) |
D885A |
probably damaging |
Het |
| Tmprss9 |
C |
A |
10: 80,733,701 (GRCm39) |
A921E |
unknown |
Het |
| Trrap |
T |
A |
5: 144,783,226 (GRCm39) |
F3340I |
probably damaging |
Het |
| Vmn1r72 |
A |
T |
7: 11,404,145 (GRCm39) |
M101K |
possibly damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,445 (GRCm39) |
L593P |
probably benign |
Het |
| Washc2 |
G |
A |
6: 116,198,823 (GRCm39) |
G295E |
probably damaging |
Het |
| Zfp273 |
A |
T |
13: 67,974,177 (GRCm39) |
H435L |
probably damaging |
Het |
| Zfp395 |
A |
G |
14: 65,623,948 (GRCm39) |
E139G |
possibly damaging |
Het |
| Zfp512b |
G |
A |
2: 181,230,011 (GRCm39) |
A552V |
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 |
|
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 |
|
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'- TTCTACGAAGCACCTGGGAC -3'
(R):5'- CTCAAGGTATTTCCGCCTGC -3'
Sequencing Primer
(F):5'- GGACCGGTGCTTCAAAGAAACTTTAC -3'
(R):5'- AAGGTATTTCCGCCTGCTAAAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation