Incidental Mutation 'IGL03108:Rnf168'
ID419066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf168
Ensembl Gene ENSMUSG00000014074
Gene Namering finger protein 168
Synonyms3110001H15Rik
Accession Numbers

Ncbi RefSeq: NM_027355.2; MGI:1917488

Is this an essential gene? Probably essential (E-score: 0.916) question?
Stock #IGL03108
Quality Score
Status
Chromosome16
Chromosomal Location32277459-32301434 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 32278281 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 56 (R56L)
Ref Sequence ENSEMBL: ENSMUSP00000014218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014218] [ENSMUST00000093183] [ENSMUST00000155649] [ENSMUST00000171474]
Predicted Effect possibly damaging
Transcript: ENSMUST00000014218
AA Change: R56L

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074
AA Change: R56L

DomainStartEndE-ValueType
RING 16 54 8.23e-6 SMART
coiled coil region 114 184 N/A INTRINSIC
low complexity region 208 221 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093183
SMART Domains Protein: ENSMUSP00000090873
Gene: ENSMUSG00000046345

DomainStartEndE-ValueType
Pfam:DUF4547 19 214 5e-120 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155649
SMART Domains Protein: ENSMUSP00000115807
Gene: ENSMUSG00000014074

DomainStartEndE-ValueType
RING 16 54 8.23e-6 SMART
coiled coil region 114 183 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171474
AA Change: R58L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074
AA Change: R58L

DomainStartEndE-ValueType
RING 18 56 8.23e-6 SMART
coiled coil region 116 186 N/A INTRINSIC
low complexity region 210 223 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit immunodeficient, increased radiosensitivity and age-dependent reduction in male infertility. [provided by MGI curators]
Allele List at MGI

All alleles(56) : Gene trapped(56)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik G A 19: 45,820,353 T633I probably damaging Het
Adgrv1 C A 13: 81,559,529 V1253F probably damaging Het
Apbb2 A G 5: 66,400,231 W296R probably damaging Het
Btbd3 T C 2: 138,284,123 V409A possibly damaging Het
C130050O18Rik A T 5: 139,415,065 D291V probably damaging Het
Catsper3 A G 13: 55,808,035 N318D probably benign Het
Chd1 T A 17: 15,725,281 D22E possibly damaging Het
Chrnb2 G A 3: 89,763,374 probably benign Het
Col24a1 G A 3: 145,323,401 G550D probably damaging Het
Cryl1 T C 14: 57,313,077 D110G probably damaging Het
Deaf1 A G 7: 141,322,961 I150T probably damaging Het
Eif3a A T 19: 60,782,309 D33E possibly damaging Het
Fabp12 C A 3: 10,250,054 G78C probably benign Het
Fat1 A G 8: 45,023,614 D1899G probably damaging Het
Galnt13 G A 2: 54,854,648 V120I probably benign Het
Ganab G A 19: 8,912,476 A635T probably damaging Het
Gm17509 G A 13: 117,220,844 probably benign Het
Gstm3 A T 3: 107,967,764 probably null Het
Hfm1 T A 5: 106,895,934 probably benign Het
Hoxd13 A C 2: 74,670,096 D327A probably damaging Het
Ints4 G T 7: 97,490,930 probably null Het
Kcna10 A T 3: 107,194,943 T297S probably benign Het
Ldb2 G A 5: 44,541,715 T127I probably damaging Het
Mapk7 T C 11: 61,491,672 D68G probably damaging Het
Msh3 A T 13: 92,221,088 probably benign Het
Muc6 A G 7: 141,637,489 S2359P possibly damaging Het
Mup6 A T 4: 60,005,990 I161F possibly damaging Het
Nup160 G A 2: 90,703,825 V665I probably benign Het
Olfr1507 T A 14: 52,490,076 D296V probably damaging Het
Olfr304 T C 7: 86,385,721 Y313C possibly damaging Het
Olfr535 A G 7: 140,493,121 N161S possibly damaging Het
Otog G A 7: 46,251,338 V352I probably damaging Het
Oxct1 T A 15: 4,035,282 V34D probably benign Het
Pcdhb21 T A 18: 37,515,891 probably null Het
Pcdhb8 T G 18: 37,357,246 V659G probably damaging Het
Plxnb2 T C 15: 89,158,031 N1590S probably benign Het
Scn8a C T 15: 100,974,615 P362S probably benign Het
Slc1a3 T A 15: 8,639,078 I468F probably damaging Het
Slc39a14 G A 14: 70,318,919 R3W probably damaging Het
Slc7a6 T A 8: 106,194,517 N373K probably damaging Het
Snrnp200 T C 2: 127,238,167 S1955P possibly damaging Het
Stat5a T A 11: 100,863,139 Y98* probably null Het
Thsd7b G T 1: 130,210,276 G1564C probably damaging Het
Zc3h13 T C 14: 75,331,766 V1351A possibly damaging Het
Other mutations in Rnf168
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02997:Rnf168 APN 16 32285421 missense probably damaging 1.00
P0021:Rnf168 UTSW 16 32298887 missense probably damaging 0.96
R0038:Rnf168 UTSW 16 32298995 missense probably benign 0.05
R0038:Rnf168 UTSW 16 32298995 missense probably benign 0.05
R0040:Rnf168 UTSW 16 32278173 unclassified probably null
R0049:Rnf168 UTSW 16 32298469 missense possibly damaging 0.56
R0049:Rnf168 UTSW 16 32298469 missense possibly damaging 0.56
R0760:Rnf168 UTSW 16 32298386 critical splice acceptor site probably null
R1188:Rnf168 UTSW 16 32298659 missense probably benign 0.00
R1386:Rnf168 UTSW 16 32298963 missense probably damaging 1.00
R1754:Rnf168 UTSW 16 32299124 missense probably benign
R2118:Rnf168 UTSW 16 32278218 missense probably damaging 1.00
R2122:Rnf168 UTSW 16 32278218 missense probably damaging 1.00
R2124:Rnf168 UTSW 16 32278218 missense probably damaging 1.00
R2520:Rnf168 UTSW 16 32278403 missense probably benign 0.17
R2852:Rnf168 UTSW 16 32282374 missense probably damaging 0.99
R3418:Rnf168 UTSW 16 32299192 missense probably benign 0.00
R3419:Rnf168 UTSW 16 32299192 missense probably benign 0.00
R4886:Rnf168 UTSW 16 32299196 missense probably benign 0.00
R5335:Rnf168 UTSW 16 32298584 missense possibly damaging 0.78
R5738:Rnf168 UTSW 16 32282374 missense probably damaging 0.99
R6570:Rnf168 UTSW 16 32289210 missense probably benign 0.00
R7165:Rnf168 UTSW 16 32282361 missense probably benign 0.38
R7529:Rnf168 UTSW 16 32298914 missense probably damaging 0.98
R7556:Rnf168 UTSW 16 32299045 missense probably damaging 1.00
Posted On2016-08-02