Incidental Mutation 'R1754:Rnf168'
ID 193884
Institutional Source Beutler Lab
Gene Symbol Rnf168
Ensembl Gene ENSMUSG00000014074
Gene Name ring finger protein 168
Synonyms 3110001H15Rik
MMRRC Submission 039786-MU
Accession Numbers

Ncbi RefSeq: NM_027355.2; MGI:1917488
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R1754 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 32277459-32301434 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32299124 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 501 (Q501R)
Ref Sequence ENSEMBL: ENSMUSP00000126484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014218] [ENSMUST00000171474]
AlphaFold Q80XJ2
Predicted Effect probably benign
Transcript: ENSMUST00000014218
AA Change: Q499R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074
AA Change: Q499R

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: ENSMUST00000171474
AA Change: Q501R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074
AA Change: Q501R

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
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563D23Rik A G 16: 92,321,031 V123A probably damaging Het
Abca2 T A 2: 25,434,333 L234M probably benign Het
Abca3 G A 17: 24,377,779 S402N probably benign Het
Acad12 A T 5: 121,607,481 V249D probably benign Het
Acp4 T C 7: 44,255,004 I212V probably benign Het
Actl6a T A 3: 32,718,574 V233D probably damaging Het
Aire T A 10: 78,030,290 Q533L probably damaging Het
Aldh3b3 T C 19: 3,968,517 S411P probably benign Het
Amer2 A G 14: 60,379,757 K467R probably damaging Het
Apol9b A T 15: 77,735,762 I253F probably benign Het
Arid1b A G 17: 5,279,201 probably null Het
Atp6v0a4 T C 6: 38,067,829 T494A probably benign Het
Atp6v1b2 A G 8: 69,101,961 D106G probably benign Het
Avpr1b T C 1: 131,600,101 S121P probably damaging Het
Bcl11a A C 11: 24,164,724 E689A probably damaging Het
Brpf3 T G 17: 28,821,323 L906R probably benign Het
Btn1a1 T C 13: 23,460,468 K287E probably benign Het
Cacna1i A G 15: 80,371,529 H871R probably damaging Het
Cd14 A T 18: 36,725,514 L296Q probably damaging Het
Col1a2 G A 6: 4,518,822 probably benign Het
Colgalt1 G T 8: 71,623,179 W490L probably damaging Het
Ctnna2 A G 6: 77,636,749 I273T possibly damaging Het
Dnah7a A T 1: 53,504,185 D2275E probably benign Het
Dnah7a A C 1: 53,561,900 probably null Het
Egfem1 T C 3: 29,668,333 Y404H possibly damaging Het
Esm1 A T 13: 113,216,696 N171Y probably damaging Het
Exoc1 T G 5: 76,560,322 probably null Het
Fcho1 A G 8: 71,711,246 I580T probably benign Het
Fgfr1 A G 8: 25,570,210 H552R probably damaging Het
Fsbp A G 4: 11,583,906 R202G probably damaging Het
Gabra6 A G 11: 42,316,561 V231A probably damaging Het
Gm8765 A T 13: 50,701,087 T254S probably damaging Het
Gmeb1 A G 4: 132,232,027 S239P probably benign Het
Gnpat T A 8: 124,877,006 Y208N probably damaging Het
Il21 T C 3: 37,225,525 K114R possibly damaging Het
Inhbc T C 10: 127,370,293 D35G possibly damaging Het
Inpp4b A T 8: 81,770,811 T87S probably damaging Het
Kcns2 T C 15: 34,839,517 I342T possibly damaging Het
Ky A T 9: 102,541,927 T378S possibly damaging Het
Lcat CAT C 8: 105,941,814 probably null Het
Lrrc8d T C 5: 105,812,657 V311A probably benign Het
Mief1 A G 15: 80,249,602 I287V probably damaging Het
Mrpl47 A G 3: 32,730,084 V179A probably benign Het
Mtcl1 T C 17: 66,380,183 K576R probably damaging Het
Myh10 C A 11: 68,813,058 A1902E probably damaging Het
Nlrp3 A G 11: 59,558,402 T837A possibly damaging Het
Nr1i3 T C 1: 171,217,394 Y132H probably damaging Het
Oit3 T C 10: 59,427,940 probably null Het
Olfr1186 A T 2: 88,525,815 R77S probably damaging Het
Olfr1467 T C 19: 13,365,353 S242P probably damaging Het
Olfr193 T A 16: 59,110,581 I10F probably benign Het
Olfr30 A T 11: 58,455,262 M229K probably damaging Het
Olfr427 A G 1: 174,100,033 T192A probably benign Het
Olfr533 A T 7: 140,466,860 I220F probably damaging Het
Olfr8 T A 10: 78,955,697 V164E probably damaging Het
Olfr825 G A 10: 130,163,164 T54I probably benign Het
Pdlim4 T C 11: 54,055,873 E196G possibly damaging Het
Pigs A G 11: 78,337,847 Y293C probably damaging Het
Pkd1l2 A T 8: 117,030,719 S1527T possibly damaging Het
Pkd2l1 A T 19: 44,155,601 Y344* probably null Het
Pmp2 T C 3: 10,182,224 probably null Het
Polr3e T C 7: 120,939,298 probably null Het
Ppp3ca C G 3: 136,881,448 I230M probably benign Het
Ppp5c T C 7: 17,005,310 H463R probably benign Het
Ptger1 A G 8: 83,669,297 N328D probably benign Het
Rhno1 A T 6: 128,357,859 I167N probably benign Het
Rictor C A 15: 6,735,368 P34H probably damaging Het
Rnf10 A C 5: 115,245,865 S630R probably damaging Het
Rngtt T G 4: 33,329,634 probably null Het
Samd9l G T 6: 3,373,126 F1378L probably damaging Het
Slc9c1 T A 16: 45,589,509 M864K probably benign Het
Slitrk5 T C 14: 111,680,519 F525S probably damaging Het
Sox6 T C 7: 115,477,055 M784V probably benign Het
Spint2 C T 7: 29,260,366 probably null Het
Ssh1 A T 5: 113,955,845 I276N probably damaging Het
Trank1 T A 9: 111,392,871 V2892D probably benign Het
Ttn C A 2: 76,751,040 E21424* probably null Het
Usp17lc T C 7: 103,418,848 I450T probably benign Het
Vcan A G 13: 89,704,735 V702A probably benign Het
Vmn1r36 TA TAA 6: 66,716,533 probably null Het
Vmn2r51 G T 7: 10,099,946 D388E probably benign Het
Zfp106 G A 2: 120,533,763 S721L probably damaging Het
Zfp106 A C 2: 120,533,764 S721A probably damaging Het
Zfp189 T A 4: 49,529,342 H148Q possibly damaging Het
Zfp352 A T 4: 90,223,809 Y62F probably benign Het
Zfp839 T C 12: 110,855,457 V235A probably damaging Het
Zfp871 T C 17: 32,775,334 Y289C probably damaging Het
Other mutations in Rnf168
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02997:Rnf168 APN 16 32285421 missense probably damaging 1.00
IGL03108:Rnf168 APN 16 32278281 missense possibly damaging 0.79
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 splice site 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
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
R9338:Rnf168 UTSW 16 32291983 critical splice donor site probably null
R9796:Rnf168 UTSW 16 32299054 missense probably damaging 1.00
R9800:Rnf168 UTSW 16 32298568 missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- TCCGACAGAGAAAACCAGGAATCTGTA -3'
(R):5'- AGCTTGCTGAGCAGAATGTGAGAC -3'

Sequencing Primer
(F):5'- CCAGGAATCTGTATTTGAAGAAGTC -3'
(R):5'- TGAACAATGCTTCTCTGGGAC -3'
Posted On 2014-05-23