Incidental Mutation 'IGL01939:Rrp12'
ID180782
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrp12
Ensembl Gene ENSMUSG00000035049
Gene Nameribosomal RNA processing 12 homolog (S. cerevisiae)
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.958) question?
Stock #IGL01939
Quality Score
Status
Chromosome19
Chromosomal Location41862852-41896153 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 41870895 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 1143 (H1143Q)
Ref Sequence ENSEMBL: ENSMUSP00000039853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038677]
Predicted Effect probably damaging
Transcript: ENSMUST00000038677
AA Change: H1143Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039853
Gene: ENSMUSG00000035049
AA Change: H1143Q

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 G T 4: 129,992,132 D22Y probably damaging Het
Ak7 T C 12: 105,734,924 V242A probably benign Het
Cacna1b T C 2: 24,661,757 N1127S probably damaging Het
Cacnb2 A T 2: 14,971,569 H267L probably benign Het
Ces1b C T 8: 93,079,431 G61R probably damaging Het
Cgnl1 T A 9: 71,725,004 D355V probably damaging Het
Col24a1 T C 3: 145,315,244 S459P probably damaging Het
Crygd T C 1: 65,062,026 T137A probably benign Het
Dctn4 T A 18: 60,544,130 M174K probably benign Het
Evi5 A G 5: 107,816,924 probably benign Het
Fat2 T G 11: 55,283,980 D1969A probably benign Het
Fcrl5 A T 3: 87,446,299 E317V probably damaging Het
Foxf2 G T 13: 31,626,714 S212I probably damaging Het
Gm21759 T A 5: 8,180,685 probably benign Het
Gm5414 A G 15: 101,625,670 probably benign Het
Gm7275 T C 16: 48,073,583 noncoding transcript Het
Hspa9 T C 18: 34,938,708 E613G possibly damaging Het
Il1rl1 A G 1: 40,462,008 I515V possibly damaging Het
Ins1 G T 19: 52,264,735 A38S probably damaging Het
Klhl31 A G 9: 77,655,206 N418D probably benign Het
Magi3 T C 3: 104,054,462 K417E probably damaging Het
Msh4 A G 3: 153,857,589 Y823H probably damaging Het
Myo6 T A 9: 80,260,818 D421E probably damaging Het
Myom3 T C 4: 135,765,589 S150P possibly damaging Het
Nectin1 C T 9: 43,792,574 probably benign Het
Nkx1-2 A T 7: 132,599,474 I18N probably damaging Het
Olfr1006 T C 2: 85,674,941 D70G probably damaging Het
Olfr1193 A G 2: 88,678,733 T286A probably damaging Het
Olfr1467 A T 19: 13,365,443 I272F probably benign Het
Olfr952 A C 9: 39,426,338 H244Q probably damaging Het
Pde8b T C 13: 95,095,724 R237G probably damaging Het
Pp2d1 G A 17: 53,515,139 L300F probably damaging Het
Ptpn21 A T 12: 98,689,161 Y516N probably damaging Het
Ptprm T A 17: 67,063,163 probably benign Het
Rabggtb A G 3: 153,912,013 V16A probably damaging Het
Rangap1 A T 15: 81,720,663 C82S probably damaging Het
Rasal2 T C 1: 157,175,910 E393G probably damaging Het
Rasgrf1 A T 9: 89,974,836 E449V probably damaging Het
Scap T C 9: 110,379,481 I530T probably benign Het
Sel1l T A 12: 91,816,247 Q482L probably damaging Het
Serpinb9b T C 13: 33,039,665 M280T probably damaging Het
Slc39a10 T A 1: 46,832,735 H348L probably benign Het
Slc7a2 T C 8: 40,914,083 L542P possibly damaging Het
Tas1r2 A T 4: 139,669,177 Q609L probably damaging Het
Tbc1d14 A T 5: 36,508,437 probably benign Het
Tfb2m A G 1: 179,537,697 probably null Het
Tpo T C 12: 30,084,647 T771A possibly damaging Het
Tpr G A 1: 150,413,745 R609H possibly damaging Het
Usp34 T A 11: 23,345,141 probably benign Het
Vmn1r193 G T 13: 22,219,723 S33* probably null Het
Vmn2r104 A C 17: 20,029,925 S695A probably damaging Het
Vmn2r24 A G 6: 123,787,445 D427G probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp362 A G 4: 128,787,053 S160P probably benign Het
Other mutations in Rrp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Rrp12 APN 19 41887094 missense possibly damaging 0.94
IGL00430:Rrp12 APN 19 41877334 critical splice donor site probably null
IGL00496:Rrp12 APN 19 41878027 critical splice donor site probably null
IGL00953:Rrp12 APN 19 41871792 missense possibly damaging 0.51
IGL01320:Rrp12 APN 19 41877936 missense probably damaging 1.00
IGL01479:Rrp12 APN 19 41865202 missense probably benign 0.05
IGL02147:Rrp12 APN 19 41886181 missense probably damaging 1.00
IGL02255:Rrp12 APN 19 41872971 missense probably damaging 1.00
IGL02756:Rrp12 APN 19 41896061 missense probably benign 0.03
IGL02793:Rrp12 APN 19 41871566 missense probably damaging 1.00
IGL03026:Rrp12 APN 19 41872997 missense probably damaging 1.00
IGL03202:Rrp12 APN 19 41868766 splice site probably null
IGL03393:Rrp12 APN 19 41871793 missense possibly damaging 0.91
R0137:Rrp12 UTSW 19 41873850 missense probably benign
R0234:Rrp12 UTSW 19 41871760 missense probably damaging 1.00
R0234:Rrp12 UTSW 19 41871760 missense probably damaging 1.00
R0522:Rrp12 UTSW 19 41874705 splice site probably benign
R0616:Rrp12 UTSW 19 41892549 missense possibly damaging 0.95
R1509:Rrp12 UTSW 19 41882200 missense probably damaging 1.00
R1537:Rrp12 UTSW 19 41886803 missense probably damaging 0.97
R1593:Rrp12 UTSW 19 41863241 missense probably benign 0.00
R1635:Rrp12 UTSW 19 41868785 missense probably benign 0.00
R1642:Rrp12 UTSW 19 41871737 missense probably damaging 1.00
R1696:Rrp12 UTSW 19 41873749 missense probably damaging 1.00
R1827:Rrp12 UTSW 19 41880481 missense possibly damaging 0.95
R1844:Rrp12 UTSW 19 41877783 critical splice donor site probably null
R1950:Rrp12 UTSW 19 41892590 missense probably damaging 1.00
R2010:Rrp12 UTSW 19 41872937 missense probably benign
R2115:Rrp12 UTSW 19 41891094 missense probably benign 0.38
R2136:Rrp12 UTSW 19 41892599 missense probably damaging 1.00
R2386:Rrp12 UTSW 19 41871284 missense probably benign 0.41
R3741:Rrp12 UTSW 19 41885728 missense probably damaging 1.00
R4096:Rrp12 UTSW 19 41887148 missense probably benign 0.32
R4292:Rrp12 UTSW 19 41872905 splice site probably null
R4407:Rrp12 UTSW 19 41892551 missense probably damaging 1.00
R4629:Rrp12 UTSW 19 41883516 missense probably benign 0.03
R4698:Rrp12 UTSW 19 41873042 missense probably benign 0.12
R4702:Rrp12 UTSW 19 41871536 missense probably damaging 1.00
R4716:Rrp12 UTSW 19 41877428 missense probably damaging 1.00
R4837:Rrp12 UTSW 19 41877505 splice site probably null
R5282:Rrp12 UTSW 19 41876590 missense probably benign
R5327:Rrp12 UTSW 19 41892596 missense probably damaging 1.00
R5621:Rrp12 UTSW 19 41880417 missense probably benign
R5762:Rrp12 UTSW 19 41880152 missense possibly damaging 0.88
R5947:Rrp12 UTSW 19 41870808 critical splice donor site probably null
R6213:Rrp12 UTSW 19 41868778 missense probably benign
R6407:Rrp12 UTSW 19 41883742 missense probably damaging 0.98
R6980:Rrp12 UTSW 19 41890143 missense probably damaging 0.98
R7179:Rrp12 UTSW 19 41883778 missense probably benign 0.03
R7186:Rrp12 UTSW 19 41871305 critical splice acceptor site probably null
R7194:Rrp12 UTSW 19 41871540 missense probably benign
R7206:Rrp12 UTSW 19 41878039 missense probably damaging 1.00
R7209:Rrp12 UTSW 19 41872949 missense possibly damaging 0.62
R7248:Rrp12 UTSW 19 41883438 missense possibly damaging 0.82
R7976:Rrp12 UTSW 19 41891109 missense probably benign 0.04
R8075:Rrp12 UTSW 19 41863274 missense probably damaging 0.96
R8322:Rrp12 UTSW 19 41880219 missense probably benign 0.09
Z1177:Rrp12 UTSW 19 41865567 missense probably damaging 1.00
Posted On2014-05-07