Incidental Mutation 'IGL03202:Rrp12'
ID 413039
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 # IGL03202
Quality Score
Status
Chromosome 19
Chromosomal Location 41851290-41884612 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 41857205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038677]
AlphaFold Q6P5B0
Predicted Effect probably null
Transcript: ENSMUST00000038677
SMART Domains Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 86,909,911 (GRCm39) M1T probably null Het
Ace T A 11: 105,867,788 (GRCm39) I168N probably damaging Het
Actr10 T G 12: 70,987,605 (GRCm39) C37W probably damaging Het
Atp10b T C 11: 43,125,268 (GRCm39) probably null Het
Bend5 A G 4: 111,290,441 (GRCm39) N146D possibly damaging Het
Cacna1b A G 2: 24,541,124 (GRCm39) F1347L probably damaging Het
Crybg3 T A 16: 59,315,072 (GRCm39) I2910F probably damaging Het
Cspg4 T C 9: 56,805,023 (GRCm39) S1945P possibly damaging Het
Cxcr4 T G 1: 128,516,641 (GRCm39) K340T probably damaging Het
Dnah6 T A 6: 73,121,683 (GRCm39) Y1433F probably damaging Het
Eif2ak4 T C 2: 118,231,101 (GRCm39) V77A probably damaging Het
Fscn3 A T 6: 28,434,451 (GRCm39) H342L probably benign Het
Gm9843 T C 16: 76,200,234 (GRCm39) noncoding transcript Het
Hdac9 T C 12: 34,423,950 (GRCm39) E520G probably damaging Het
Itm2b G A 14: 73,603,229 (GRCm39) P120L probably damaging Het
Itpa T A 2: 130,509,859 (GRCm39) probably benign Het
Lce1l A T 3: 92,757,631 (GRCm39) C76S unknown Het
Lin54 A G 5: 100,623,673 (GRCm39) S55P possibly damaging Het
Lrrc37 T A 11: 103,506,199 (GRCm39) E1923V probably benign Het
Mtfmt C A 9: 65,356,008 (GRCm39) P303Q probably damaging Het
Nae1 A T 8: 105,244,811 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,983,011 (GRCm39) probably benign Het
Or13a19 A G 7: 139,903,019 (GRCm39) M136V possibly damaging Het
Or1e22 G A 11: 73,377,351 (GRCm39) Q100* probably null Het
Pcnx2 A C 8: 126,498,783 (GRCm39) I1572S probably damaging Het
Piezo2 A T 18: 63,144,669 (GRCm39) Y2809N probably damaging Het
Pygl G T 12: 70,246,420 (GRCm39) Q376K probably benign Het
Resf1 G A 6: 149,227,937 (GRCm39) V328I probably benign Het
Sephs1 A T 2: 4,894,074 (GRCm39) I92F possibly damaging Het
Taar4 T C 10: 23,836,692 (GRCm39) F101L probably damaging Het
Tenm2 A G 11: 35,915,375 (GRCm39) I2053T probably damaging Het
Tgfbr3 T G 5: 107,257,630 (GRCm39) probably benign Het
Vmn2r108 A T 17: 20,691,319 (GRCm39) Y401* probably null Het
Vmn2r87 A G 10: 130,333,091 (GRCm39) M53T probably benign Het
Zfp941 A G 7: 140,392,966 (GRCm39) V131A 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
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
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 2016-08-02