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) question?
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

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
Meta Mutation Damage Score 0.0626 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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