Incidental Mutation 'IGL02217:Rbbp8nl'
ID 284961
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbbp8nl
Ensembl Gene ENSMUSG00000038980
Gene Name RBBP8 N-terminal like
Synonyms BC066135
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL02217
Quality Score
Status
Chromosome 2
Chromosomal Location 179919439-179931672 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 179919981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038529] [ENSMUST00000108891]
AlphaFold A2ABX0
Predicted Effect probably benign
Transcript: ENSMUST00000038529
SMART Domains Protein: ENSMUSP00000047237
Gene: ENSMUSG00000038980

DomainStartEndE-ValueType
Pfam:CtIP_N 4 123 5.6e-56 PFAM
low complexity region 143 154 N/A INTRINSIC
low complexity region 157 172 N/A INTRINSIC
low complexity region 237 250 N/A INTRINSIC
low complexity region 282 296 N/A INTRINSIC
low complexity region 352 361 N/A INTRINSIC
low complexity region 365 379 N/A INTRINSIC
low complexity region 585 590 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108891
SMART Domains Protein: ENSMUSP00000104519
Gene: ENSMUSG00000038990

DomainStartEndE-ValueType
low complexity region 2 39 N/A INTRINSIC
low complexity region 58 102 N/A INTRINSIC
low complexity region 116 121 N/A INTRINSIC
low complexity region 262 276 N/A INTRINSIC
CYCLIN 365 452 1.55e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136706
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,603,955 (GRCm39) probably benign Het
Actn1 G A 12: 80,220,868 (GRCm39) Q647* probably null Het
Adamts6 T A 13: 104,598,873 (GRCm39) probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cabin1 G A 10: 75,535,881 (GRCm39) T1389I possibly damaging Het
Cenpc1 A G 5: 86,177,059 (GRCm39) probably benign Het
Clca4a T A 3: 144,667,757 (GRCm39) T405S possibly damaging Het
Cntln G A 4: 85,018,495 (GRCm39) V1168M probably damaging Het
Col18a1 A G 10: 76,889,132 (GRCm39) S1494P probably damaging Het
Cps1 A T 1: 67,213,541 (GRCm39) T758S probably benign Het
Cul3 A T 1: 80,261,484 (GRCm39) M247K probably damaging Het
Cyp3a57 A G 5: 145,305,953 (GRCm39) probably null Het
Dennd4c T A 4: 86,732,036 (GRCm39) C917S probably benign Het
Dhrs11 A T 11: 84,713,221 (GRCm39) Y166* probably null Het
Dtl A G 1: 191,300,426 (GRCm39) V146A probably damaging Het
Exosc9 A G 3: 36,606,893 (GRCm39) E20G probably damaging Het
Fer A G 17: 64,445,960 (GRCm39) K437R probably benign Het
Fkbp6 A T 5: 135,366,484 (GRCm39) V284E probably benign Het
Foxq1 A T 13: 31,743,152 (GRCm39) S85C probably damaging Het
Galnt12 T A 4: 47,113,832 (GRCm39) S83R probably damaging Het
Gpr156 A G 16: 37,825,673 (GRCm39) D630G probably benign Het
Hace1 A T 10: 45,466,471 (GRCm39) probably null Het
Hemgn G T 4: 46,396,420 (GRCm39) T272K probably damaging Het
Ifi213 T G 1: 173,422,598 (GRCm39) E89A possibly damaging Het
Jarid2 A G 13: 45,066,677 (GRCm39) E954G probably damaging Het
Kcnu1 A G 8: 26,348,212 (GRCm39) D126G probably damaging Het
Lbh A T 17: 73,228,247 (GRCm39) I31F possibly damaging Het
Lrrc37 T C 11: 103,503,697 (GRCm39) probably benign Het
Mdfic2 T A 6: 98,225,033 (GRCm39) E83D possibly damaging Het
Muc6 T C 7: 141,235,889 (GRCm39) E490G probably damaging Het
Ncoa3 T C 2: 165,897,266 (GRCm39) S686P probably damaging Het
Nme4 A G 17: 26,312,834 (GRCm39) M108T probably damaging Het
Nod1 A C 6: 54,920,404 (GRCm39) V638G possibly damaging Het
Nrip2 A G 6: 128,383,502 (GRCm39) N70S probably damaging Het
Or2bd2 T A 7: 6,443,244 (GRCm39) I115N probably damaging Het
Or5as1 A G 2: 86,980,231 (GRCm39) M258T probably benign Het
Pitrm1 G A 13: 6,617,377 (GRCm39) probably benign Het
Proser1 A G 3: 53,378,912 (GRCm39) K115E probably damaging Het
Ptov1 C T 7: 44,516,900 (GRCm39) G70R probably damaging Het
Qtrt1 T G 9: 21,328,685 (GRCm39) probably null Het
Rplp1rt A T 19: 12,824,227 (GRCm39) noncoding transcript Het
Rtn3 G A 19: 7,412,449 (GRCm39) T794I probably damaging Het
Setd4 A G 16: 93,390,183 (GRCm39) L82P probably damaging Het
Shank2 C T 7: 143,838,784 (GRCm39) L27F possibly damaging Het
Srpk2 A C 5: 23,750,568 (GRCm39) V45G probably damaging Het
Utrn A G 10: 12,627,303 (GRCm39) F57S probably damaging Het
Vcan T G 13: 89,851,196 (GRCm39) T1255P probably damaging Het
Vmn2r16 A C 5: 109,487,676 (GRCm39) H183P probably damaging Het
Wdr48 T C 9: 119,738,601 (GRCm39) I286T probably benign Het
Other mutations in Rbbp8nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01802:Rbbp8nl APN 2 179,921,488 (GRCm39) missense probably benign 0.01
IGL01845:Rbbp8nl APN 2 179,925,104 (GRCm39) missense probably damaging 0.99
IGL01966:Rbbp8nl APN 2 179,922,782 (GRCm39) splice site probably benign
IGL02500:Rbbp8nl APN 2 179,921,122 (GRCm39) missense possibly damaging 0.57
IGL02623:Rbbp8nl APN 2 179,923,236 (GRCm39) missense probably damaging 0.99
IGL02634:Rbbp8nl APN 2 179,922,688 (GRCm39) missense probably benign 0.00
F5770:Rbbp8nl UTSW 2 179,920,001 (GRCm39) missense probably benign 0.03
R0380:Rbbp8nl UTSW 2 179,923,512 (GRCm39) missense probably damaging 0.96
R1773:Rbbp8nl UTSW 2 179,922,987 (GRCm39) missense probably benign 0.00
R1858:Rbbp8nl UTSW 2 179,924,006 (GRCm39) splice site probably benign
R1901:Rbbp8nl UTSW 2 179,925,106 (GRCm39) missense probably damaging 1.00
R1962:Rbbp8nl UTSW 2 179,922,667 (GRCm39) missense probably benign 0.03
R2423:Rbbp8nl UTSW 2 179,922,764 (GRCm39) missense probably damaging 0.98
R2495:Rbbp8nl UTSW 2 179,920,895 (GRCm39) missense probably null 0.31
R3738:Rbbp8nl UTSW 2 179,923,041 (GRCm39) missense probably benign 0.37
R4460:Rbbp8nl UTSW 2 179,922,764 (GRCm39) missense probably benign 0.41
R4502:Rbbp8nl UTSW 2 179,920,989 (GRCm39) missense possibly damaging 0.48
R5573:Rbbp8nl UTSW 2 179,921,586 (GRCm39) missense possibly damaging 0.95
R5699:Rbbp8nl UTSW 2 179,920,461 (GRCm39) missense probably damaging 0.98
R6242:Rbbp8nl UTSW 2 179,922,767 (GRCm39) missense probably damaging 1.00
R6269:Rbbp8nl UTSW 2 179,923,305 (GRCm39) nonsense probably null
R6586:Rbbp8nl UTSW 2 179,922,752 (GRCm39) missense probably damaging 1.00
R6875:Rbbp8nl UTSW 2 179,921,019 (GRCm39) missense probably benign 0.00
R8055:Rbbp8nl UTSW 2 179,920,001 (GRCm39) missense probably benign 0.00
R8344:Rbbp8nl UTSW 2 179,921,506 (GRCm39) missense probably benign 0.18
R8944:Rbbp8nl UTSW 2 179,919,769 (GRCm39) nonsense probably null
R9279:Rbbp8nl UTSW 2 179,920,894 (GRCm39) critical splice donor site probably null
R9352:Rbbp8nl UTSW 2 179,921,053 (GRCm39) missense probably benign 0.00
V7581:Rbbp8nl UTSW 2 179,920,001 (GRCm39) missense probably benign 0.03
V7582:Rbbp8nl UTSW 2 179,920,001 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16