Incidental Mutation 'R6789:Rnf8'
ID 532950
Institutional Source Beutler Lab
Gene Symbol Rnf8
Ensembl Gene ENSMUSG00000090083
Gene Name ring finger protein 8
Synonyms 3830404E21Rik, AIP37
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R6789 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 29833763-29860638 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29854843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 433 (W433R)
Ref Sequence ENSEMBL: ENSMUSP00000024817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024817] [ENSMUST00000130871] [ENSMUST00000172485]
AlphaFold Q8VC56
Predicted Effect probably damaging
Transcript: ENSMUST00000024817
AA Change: W433R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024817
Gene: ENSMUSG00000090083
AA Change: W433R

DomainStartEndE-ValueType
FHA 37 92 5.55e-8 SMART
low complexity region 116 130 N/A INTRINSIC
low complexity region 299 317 N/A INTRINSIC
RING 406 443 3.64e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130871
AA Change: W433R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117838
Gene: ENSMUSG00000098374
AA Change: W433R

DomainStartEndE-ValueType
FHA 37 92 5.55e-8 SMART
low complexity region 116 130 N/A INTRINSIC
low complexity region 299 317 N/A INTRINSIC
RING 406 443 3.64e-7 SMART
G_patch 524 570 1.93e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172485
SMART Domains Protein: ENSMUSP00000134697
Gene: ENSMUSG00000090083

DomainStartEndE-ValueType
Pfam:FHA 38 86 1.2e-6 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mice are runted and display premature death, immune organ hypocellularity, reduced male fertility, impaired spermatogenesis, increased sensitivity to gamma-irradiation, increased chromosome breakage and tumor incidence, and a gene dose-dependent defect in class switch recombination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T A 1: 58,343,644 (GRCm39) D442E probably benign Het
Arl6ip4 G A 5: 124,254,665 (GRCm39) G53R probably damaging Het
Asns T C 6: 7,675,344 (GRCm39) T553A probably benign Het
Atp1a1 T A 3: 101,493,614 (GRCm39) N497Y possibly damaging Het
Birc2 T C 9: 7,836,966 (GRCm39) probably benign Het
Catsperd C A 17: 56,961,426 (GRCm39) probably null Het
Dchs1 G T 7: 105,406,210 (GRCm39) Q2341K possibly damaging Het
Dydc2 C A 14: 40,771,296 (GRCm39) V128L probably benign Het
Dync2i2 A G 2: 29,923,284 (GRCm39) probably null Het
Efna3 C T 3: 89,223,769 (GRCm39) probably null Het
Fbn2 C T 18: 58,143,686 (GRCm39) E2790K probably benign Het
Fhip1a A T 3: 85,579,865 (GRCm39) L780* probably null Het
Gm11569 C A 11: 99,689,657 (GRCm39) probably benign Het
Gprc6a C T 10: 51,507,412 (GRCm39) G39D probably damaging Het
Igkv6-17 A G 6: 70,348,692 (GRCm39) D21G probably benign Het
Klra4 T C 6: 130,039,182 (GRCm39) Q70R probably damaging Het
Krtap31-2 C T 11: 99,827,549 (GRCm39) S127F possibly damaging Het
Lingo4 G T 3: 94,306,662 (GRCm39) probably benign Het
Lrp2bp A G 8: 46,466,151 (GRCm39) K87E possibly damaging Het
Macf1 A T 4: 123,266,231 (GRCm39) M5333K probably damaging Het
Mmp13 A T 9: 7,272,781 (GRCm39) Y47F probably benign Het
Muc16 G A 9: 18,471,282 (GRCm39) P7261S probably benign Het
Nostrin G T 2: 69,005,856 (GRCm39) M212I probably benign Het
Nr1h5 G A 3: 102,865,677 (GRCm39) T8M possibly damaging Het
Nup153 A T 13: 46,870,792 (GRCm39) L41H probably damaging Het
Or10b1 T C 10: 78,355,802 (GRCm39) L120P noncoding transcript Het
Or5b97 T A 19: 12,878,653 (GRCm39) I164L probably benign Het
Pappa A T 4: 65,099,278 (GRCm39) D599V probably damaging Het
Pcdh18 G A 3: 49,710,364 (GRCm39) T317I probably benign Het
Pcsk5 T A 19: 17,434,150 (GRCm39) N1406I possibly damaging Het
Pik3c2a A T 7: 115,961,419 (GRCm39) Y1027N probably damaging Het
Prpf6 T A 2: 181,257,844 (GRCm39) Y105* probably null Het
Rab5a C T 17: 53,804,650 (GRCm39) P87S probably damaging Het
Slc18b1 T A 10: 23,692,227 (GRCm39) V232D probably benign Het
Taf11 C A 17: 28,126,492 (GRCm39) A52S probably benign Het
Thoc2l T C 5: 104,665,555 (GRCm39) F26L probably benign Het
Trav9-2 T C 14: 53,828,819 (GRCm39) L63P possibly damaging Het
Zfat T C 15: 67,956,235 (GRCm39) Y1199C probably damaging Het
Other mutations in Rnf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0553:Rnf8 UTSW 17 29,840,613 (GRCm39) critical splice donor site probably null
R1523:Rnf8 UTSW 17 29,845,946 (GRCm39) missense probably damaging 0.99
R1713:Rnf8 UTSW 17 29,853,735 (GRCm39) missense probably damaging 1.00
R1893:Rnf8 UTSW 17 29,840,524 (GRCm39) missense probably damaging 0.98
R4194:Rnf8 UTSW 17 29,850,642 (GRCm39) unclassified probably benign
R4985:Rnf8 UTSW 17 29,845,834 (GRCm39) missense possibly damaging 0.85
R5155:Rnf8 UTSW 17 29,845,604 (GRCm39) missense probably damaging 1.00
R5279:Rnf8 UTSW 17 29,845,680 (GRCm39) missense possibly damaging 0.88
R7623:Rnf8 UTSW 17 29,847,980 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTAGGACTGTGGGAACTGG -3'
(R):5'- GTAGGAGTTCAGAGCCACTCAC -3'

Sequencing Primer
(F):5'- AGAACCGGGTGCTGAGC -3'
(R):5'- GAGTTCAGAGCCACTCACCTCTC -3'
Posted On 2018-08-29