Incidental Mutation 'IGL00155:Rbbp6'
ID 1441
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbbp6
Ensembl Gene ENSMUSG00000030779
Gene Name retinoblastoma binding protein 6, ubiquitin ligase
Synonyms C030034J04Rik, 4933422O15Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00155
Quality Score
Status
Chromosome 7
Chromosomal Location 122568980-122601780 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122587908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 254 (I254T)
Ref Sequence ENSEMBL: ENSMUSP00000071519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052135] [ENSMUST00000071590] [ENSMUST00000098062] [ENSMUST00000231323]
AlphaFold P97868
Predicted Effect probably damaging
Transcript: ENSMUST00000052135
AA Change: I254T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049528
Gene: ENSMUSG00000030779
AA Change: I254T

DomainStartEndE-ValueType
DWNN 4 76 3.92e-42 SMART
low complexity region 101 110 N/A INTRINSIC
ZnF_C2HC 161 177 5.67e-5 SMART
low complexity region 233 259 N/A INTRINSIC
RING 260 300 6.05e-4 SMART
low complexity region 338 349 N/A INTRINSIC
low complexity region 376 390 N/A INTRINSIC
low complexity region 474 485 N/A INTRINSIC
low complexity region 551 610 N/A INTRINSIC
coiled coil region 653 679 N/A INTRINSIC
low complexity region 680 774 N/A INTRINSIC
low complexity region 824 844 N/A INTRINSIC
low complexity region 929 943 N/A INTRINSIC
low complexity region 1003 1025 N/A INTRINSIC
internal_repeat_2 1026 1091 4.38e-6 PROSPERO
internal_repeat_1 1038 1107 3.76e-7 PROSPERO
low complexity region 1120 1141 N/A INTRINSIC
low complexity region 1143 1154 N/A INTRINSIC
low complexity region 1247 1258 N/A INTRINSIC
internal_repeat_2 1395 1466 4.38e-6 PROSPERO
low complexity region 1472 1490 N/A INTRINSIC
internal_repeat_1 1523 1586 3.76e-7 PROSPERO
low complexity region 1689 1752 N/A INTRINSIC
low complexity region 1758 1784 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000071590
AA Change: I254T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071519
Gene: ENSMUSG00000030779
AA Change: I254T

DomainStartEndE-ValueType
DWNN 4 76 3.92e-42 SMART
low complexity region 101 110 N/A INTRINSIC
ZnF_C2HC 161 177 5.67e-5 SMART
low complexity region 233 259 N/A INTRINSIC
RING 260 300 6.05e-4 SMART
low complexity region 338 349 N/A INTRINSIC
low complexity region 376 390 N/A INTRINSIC
low complexity region 474 485 N/A INTRINSIC
low complexity region 551 610 N/A INTRINSIC
low complexity region 653 740 N/A INTRINSIC
low complexity region 790 810 N/A INTRINSIC
low complexity region 895 909 N/A INTRINSIC
low complexity region 969 991 N/A INTRINSIC
internal_repeat_2 992 1057 5.65e-6 PROSPERO
internal_repeat_1 1004 1073 5.01e-7 PROSPERO
low complexity region 1086 1107 N/A INTRINSIC
low complexity region 1109 1120 N/A INTRINSIC
low complexity region 1213 1224 N/A INTRINSIC
internal_repeat_2 1361 1432 5.65e-6 PROSPERO
low complexity region 1438 1456 N/A INTRINSIC
internal_repeat_1 1489 1552 5.01e-7 PROSPERO
low complexity region 1655 1718 N/A INTRINSIC
low complexity region 1724 1750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098062
SMART Domains Protein: ENSMUSP00000095670
Gene: ENSMUSG00000030779

DomainStartEndE-ValueType
DWNN 4 76 3.92e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126053
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156738
Predicted Effect possibly damaging
Transcript: ENSMUST00000231323
AA Change: I292T

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality, reduced size, growth retardation and increased apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,590,235 (GRCm39) F498S probably damaging Het
Arhgap11a A G 2: 113,664,601 (GRCm39) S561P probably benign Het
Best3 T C 10: 116,824,632 (GRCm39) Y33H probably damaging Het
Cd209b T A 8: 3,969,945 (GRCm39) probably benign Het
Cep152 A G 2: 125,405,808 (GRCm39) S1575P probably benign Het
Crabp2 A G 3: 87,859,506 (GRCm39) Y52C probably damaging Het
Crybg1 T C 10: 43,868,505 (GRCm39) D1017G probably damaging Het
Ctnna2 A T 6: 76,957,744 (GRCm39) W137R probably damaging Het
Cxcl9 T A 5: 92,471,728 (GRCm39) H104L possibly damaging Het
Ddr2 A G 1: 169,811,996 (GRCm39) I742T possibly damaging Het
Frem1 A G 4: 82,877,626 (GRCm39) V223A possibly damaging Het
Fzd10 T A 5: 128,678,592 (GRCm39) I104N probably damaging Het
Greb1 A G 12: 16,761,962 (GRCm39) S473P probably damaging Het
Gtf2i T C 5: 134,271,602 (GRCm39) Y873C probably damaging Het
Igsf6 T A 7: 120,669,876 (GRCm39) K89* probably null Het
Ints3 A G 3: 90,313,636 (GRCm39) F331L probably damaging Het
Kcnh3 A T 15: 99,140,354 (GRCm39) H1080L possibly damaging Het
Mettl15 A T 2: 108,923,521 (GRCm39) Y300* probably null Het
Mms19 A G 19: 41,936,672 (GRCm39) F654L probably benign Het
Myc A G 15: 61,861,669 (GRCm39) H425R probably benign Het
Ntn1 G T 11: 68,117,445 (GRCm39) probably benign Het
Ormdl2 C A 10: 128,655,944 (GRCm39) G69W probably damaging Het
Pdpr T C 8: 111,828,704 (GRCm39) V69A possibly damaging Het
Sema6d A G 2: 124,501,785 (GRCm39) R543G possibly damaging Het
Slc18a1 C T 8: 69,503,998 (GRCm39) A314T probably damaging Het
Slc22a26 A G 19: 7,760,201 (GRCm39) L514P probably damaging Het
Slc22a28 A C 19: 8,107,567 (GRCm39) S167A possibly damaging Het
Speer1m A G 5: 11,971,377 (GRCm39) S110G possibly damaging Het
Tchh A G 3: 93,352,606 (GRCm39) E682G unknown Het
Thbs2 A T 17: 14,889,097 (GRCm39) M1134K probably damaging Het
Tmem26 A G 10: 68,611,184 (GRCm39) S218G probably damaging Het
Tmprss11c A T 5: 86,387,254 (GRCm39) S208R probably benign Het
Tnfrsf8 T C 4: 145,019,161 (GRCm39) probably null Het
Ush2a T C 1: 188,596,875 (GRCm39) S3872P probably benign Het
Vmn1r69 T C 7: 10,313,879 (GRCm39) N205S probably benign Het
Vmn2r54 T A 7: 12,365,840 (GRCm39) probably benign Het
Wwtr1 A T 3: 57,370,942 (GRCm39) M328K possibly damaging Het
Zfp64 G A 2: 168,768,601 (GRCm39) S337L probably benign Het
Other mutations in Rbbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Rbbp6 APN 7 122,570,286 (GRCm39) missense probably damaging 1.00
IGL01144:Rbbp6 APN 7 122,575,169 (GRCm39) missense possibly damaging 0.95
IGL01325:Rbbp6 APN 7 122,587,841 (GRCm39) missense probably damaging 1.00
IGL01520:Rbbp6 APN 7 122,584,898 (GRCm39) missense possibly damaging 0.93
IGL01765:Rbbp6 APN 7 122,599,177 (GRCm39) unclassified probably benign
IGL01985:Rbbp6 APN 7 122,570,296 (GRCm39) missense probably damaging 1.00
IGL02094:Rbbp6 APN 7 122,596,485 (GRCm39) missense probably damaging 1.00
IGL02125:Rbbp6 APN 7 122,570,352 (GRCm39) critical splice donor site probably null
IGL02552:Rbbp6 APN 7 122,582,204 (GRCm39) missense probably damaging 0.98
IGL02805:Rbbp6 APN 7 122,600,411 (GRCm39) utr 3 prime probably benign
changeling UTSW 7 122,596,534 (GRCm39) splice site probably null
Puzzlewit UTSW 7 122,599,031 (GRCm39) unclassified probably benign
R0403:Rbbp6 UTSW 7 122,591,519 (GRCm39) missense probably damaging 0.99
R0855:Rbbp6 UTSW 7 122,591,471 (GRCm39) missense probably benign 0.22
R1132:Rbbp6 UTSW 7 122,599,336 (GRCm39) unclassified probably benign
R1463:Rbbp6 UTSW 7 122,591,676 (GRCm39) missense possibly damaging 0.89
R1867:Rbbp6 UTSW 7 122,596,252 (GRCm39) missense probably damaging 1.00
R1957:Rbbp6 UTSW 7 122,589,511 (GRCm39) missense probably benign 0.04
R1958:Rbbp6 UTSW 7 122,601,168 (GRCm39) unclassified probably benign
R1978:Rbbp6 UTSW 7 122,598,711 (GRCm39) unclassified probably benign
R1999:Rbbp6 UTSW 7 122,589,575 (GRCm39) missense probably damaging 0.98
R2164:Rbbp6 UTSW 7 122,598,697 (GRCm39) unclassified probably benign
R4181:Rbbp6 UTSW 7 122,593,958 (GRCm39) missense probably damaging 0.99
R4387:Rbbp6 UTSW 7 122,596,534 (GRCm39) splice site probably null
R4583:Rbbp6 UTSW 7 122,601,175 (GRCm39) unclassified probably benign
R4936:Rbbp6 UTSW 7 122,598,926 (GRCm39) unclassified probably benign
R4974:Rbbp6 UTSW 7 122,599,031 (GRCm39) unclassified probably benign
R4998:Rbbp6 UTSW 7 122,589,549 (GRCm39) missense probably benign 0.36
R5082:Rbbp6 UTSW 7 122,599,925 (GRCm39) utr 3 prime probably benign
R5502:Rbbp6 UTSW 7 122,587,947 (GRCm39) missense probably damaging 1.00
R5567:Rbbp6 UTSW 7 122,601,057 (GRCm39) utr 3 prime probably benign
R5570:Rbbp6 UTSW 7 122,601,057 (GRCm39) utr 3 prime probably benign
R5607:Rbbp6 UTSW 7 122,596,309 (GRCm39) missense probably damaging 1.00
R5608:Rbbp6 UTSW 7 122,596,309 (GRCm39) missense probably damaging 1.00
R5948:Rbbp6 UTSW 7 122,596,851 (GRCm39) missense probably damaging 1.00
R6134:Rbbp6 UTSW 7 122,596,534 (GRCm39) splice site probably null
R6172:Rbbp6 UTSW 7 122,597,778 (GRCm39) nonsense probably null
R6773:Rbbp6 UTSW 7 122,598,578 (GRCm39) unclassified probably benign
R6800:Rbbp6 UTSW 7 122,584,287 (GRCm39) missense possibly damaging 0.93
R7266:Rbbp6 UTSW 7 122,600,590 (GRCm39) missense unknown
R7298:Rbbp6 UTSW 7 122,600,417 (GRCm39) missense unknown
R7535:Rbbp6 UTSW 7 122,589,366 (GRCm39) missense probably benign 0.00
R7635:Rbbp6 UTSW 7 122,575,231 (GRCm39) missense possibly damaging 0.80
R7665:Rbbp6 UTSW 7 122,589,255 (GRCm39) splice site probably null
R7665:Rbbp6 UTSW 7 122,593,909 (GRCm39) missense possibly damaging 0.81
R7910:Rbbp6 UTSW 7 122,596,251 (GRCm39) missense possibly damaging 0.48
R7956:Rbbp6 UTSW 7 122,600,561 (GRCm39) missense unknown
R8043:Rbbp6 UTSW 7 122,584,468 (GRCm39) missense probably damaging 1.00
R8273:Rbbp6 UTSW 7 122,589,547 (GRCm39) missense probably benign 0.36
R8473:Rbbp6 UTSW 7 122,600,421 (GRCm39) utr 3 prime probably benign
R8679:Rbbp6 UTSW 7 122,600,516 (GRCm39) missense unknown
R8712:Rbbp6 UTSW 7 122,600,976 (GRCm39) missense unknown
R8802:Rbbp6 UTSW 7 122,587,680 (GRCm39) intron probably benign
R8911:Rbbp6 UTSW 7 122,591,268 (GRCm39) missense possibly damaging 0.53
R9152:Rbbp6 UTSW 7 122,600,697 (GRCm39) missense unknown
R9159:Rbbp6 UTSW 7 122,589,428 (GRCm39) missense probably damaging 0.99
R9308:Rbbp6 UTSW 7 122,596,221 (GRCm39) missense probably damaging 1.00
R9438:Rbbp6 UTSW 7 122,599,456 (GRCm39) missense
R9509:Rbbp6 UTSW 7 122,597,791 (GRCm39) missense unknown
R9608:Rbbp6 UTSW 7 122,591,268 (GRCm39) missense possibly damaging 0.53
R9636:Rbbp6 UTSW 7 122,601,175 (GRCm39) unclassified probably benign
R9707:Rbbp6 UTSW 7 122,589,061 (GRCm39) missense probably damaging 1.00
X0062:Rbbp6 UTSW 7 122,599,369 (GRCm39) unclassified probably benign
Posted On 2011-07-12