Incidental Mutation 'IGL02147:Rrp12'
ID 281815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrp12
Ensembl Gene ENSMUSG00000035049
Gene Name ribosomal RNA processing 12 homolog
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # IGL02147
Quality Score
Status
Chromosome 19
Chromosomal Location 41851290-41884612 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41874620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 342 (V342E)
Ref Sequence ENSEMBL: ENSMUSP00000039853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038677]
AlphaFold Q6P5B0
Predicted Effect probably damaging
Transcript: ENSMUST00000038677
AA Change: V342E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: V342E

DomainStartEndE-ValueType
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T C 19: 24,042,327 (GRCm39) noncoding transcript Het
Acadsb T A 7: 131,027,610 (GRCm39) probably benign Het
Ambra1 A G 2: 91,598,064 (GRCm39) H75R probably benign Het
Arhgef28 T A 13: 98,097,822 (GRCm39) I931F probably damaging Het
Cdk5 T C 5: 24,625,318 (GRCm39) N165D probably benign Het
Col4a2 A T 8: 11,458,140 (GRCm39) Y272F probably benign Het
Csde1 T A 3: 102,947,250 (GRCm39) D67E probably damaging Het
Dhx34 T C 7: 15,937,928 (GRCm39) H724R probably benign Het
Dhx57 T C 17: 80,567,752 (GRCm39) D777G possibly damaging Het
Fat3 A C 9: 15,907,281 (GRCm39) V2907G probably damaging Het
Fst T C 13: 114,590,896 (GRCm39) Y290C probably damaging Het
Ighg2b A T 12: 113,270,011 (GRCm39) *336R probably null Het
Igkv4-92 C T 6: 68,732,236 (GRCm39) S46N probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Lgalsl2 T A 7: 5,362,732 (GRCm39) I121N probably damaging Het
Lmtk2 A G 5: 144,093,754 (GRCm39) M244V possibly damaging Het
Mcoln1 T C 8: 3,558,379 (GRCm39) F211S probably benign Het
Mib2 C A 4: 155,742,144 (GRCm39) R209L probably benign Het
Msx3 C A 7: 139,628,798 (GRCm39) V39L possibly damaging Het
Mtnr1b A G 9: 15,774,672 (GRCm39) F129S probably damaging Het
Nr3c2 A G 8: 77,635,696 (GRCm39) S266G probably damaging Het
Nup160 G T 2: 90,534,285 (GRCm39) L703F probably benign Het
Or10c1 T A 17: 37,521,877 (GRCm39) Y289F probably damaging Het
Or5t5 A G 2: 86,616,494 (GRCm39) N140S probably benign Het
Pcyt1a T A 16: 32,280,916 (GRCm39) N105K probably damaging Het
Pdhx A G 2: 102,860,686 (GRCm39) probably benign Het
Qpct T C 17: 79,378,145 (GRCm39) V105A probably damaging Het
Ros1 A C 10: 51,996,991 (GRCm39) F1227C probably damaging Het
Sart3 A G 5: 113,901,004 (GRCm39) probably benign Het
Slc6a18 T A 13: 73,816,281 (GRCm39) K366M probably damaging Het
Smarca4 A G 9: 21,546,999 (GRCm39) N175D probably damaging Het
Sox14 T C 9: 99,757,598 (GRCm39) K47R probably damaging Het
Trcg1 A T 9: 57,153,132 (GRCm39) I592F probably benign Het
Ush2a T C 1: 188,596,900 (GRCm39) M3880T probably benign Het
Usp20 T C 2: 30,896,413 (GRCm39) F172S probably damaging Het
Vmn2r4 C T 3: 64,305,782 (GRCm39) probably benign Het
Other mutations in Rrp12
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16