Incidental Mutation 'R8818:Rnf170'
ID 672868
Institutional Source Beutler Lab
Gene Symbol Rnf170
Ensembl Gene ENSMUSG00000013878
Gene Name ring finger protein 170
Synonyms 6720407G21Rik
MMRRC Submission 068651-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R8818 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 26609396-26633903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 26629043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 172 (D172E)
Ref Sequence ENSEMBL: ENSMUSP00000014022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014022] [ENSMUST00000110579] [ENSMUST00000124757] [ENSMUST00000131138] [ENSMUST00000153528] [ENSMUST00000209300] [ENSMUST00000209707]
AlphaFold Q8CBG9
Predicted Effect probably benign
Transcript: ENSMUST00000014022
AA Change: D172E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000014022
Gene: ENSMUSG00000013878
AA Change: D172E

DomainStartEndE-ValueType
transmembrane domain 54 73 N/A INTRINSIC
RING 115 157 1.06e-8 SMART
Pfam:DUF1232 230 267 4.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110579
SMART Domains Protein: ENSMUSP00000106208
Gene: ENSMUSG00000013878

DomainStartEndE-ValueType
transmembrane domain 54 73 N/A INTRINSIC
RING 115 138 6.02e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124757
SMART Domains Protein: ENSMUSP00000115588
Gene: ENSMUSG00000013878

DomainStartEndE-ValueType
transmembrane domain 54 73 N/A INTRINSIC
SCOP:d1fbva4 85 135 1e-6 SMART
Blast:RING 115 136 6e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000124867
SMART Domains Protein: ENSMUSP00000115959
Gene: ENSMUSG00000013878

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
SCOP:d1fbva4 49 99 9e-7 SMART
Blast:RING 79 100 2e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000131138
SMART Domains Protein: ENSMUSP00000115452
Gene: ENSMUSG00000109850

DomainStartEndE-ValueType
transmembrane domain 54 73 N/A INTRINSIC
SCOP:d1fbva4 85 135 1e-6 SMART
Blast:RING 115 135 3e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000153528
AA Change: D125E

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000118689
Gene: ENSMUSG00000013878
AA Change: D125E

DomainStartEndE-ValueType
RING 68 110 1.06e-8 SMART
Pfam:DUF1232 181 221 3.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209300
Predicted Effect probably benign
Transcript: ENSMUST00000209707
AA Change: D172E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice homozygous for a null allele develop progressive gait abnormalities that are more pronounced in dark conditions with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G T 7: 119,815,524 (GRCm39) M257I probably benign Het
Adam23 T C 1: 63,584,627 (GRCm39) V345A probably damaging Het
Anxa6 T G 11: 54,902,578 (GRCm39) N52T possibly damaging Het
Arhgef15 G A 11: 68,841,938 (GRCm39) H496Y probably damaging Het
Atp2a3 A G 11: 72,872,765 (GRCm39) E771G probably damaging Het
B3gnt5 A G 16: 19,588,347 (GRCm39) T189A possibly damaging Het
Becn1 A T 11: 101,186,230 (GRCm39) S125T probably damaging Het
Bltp1 T G 3: 37,050,697 (GRCm39) M3011R possibly damaging Het
Ccdc180 A G 4: 45,900,484 (GRCm39) M283V probably benign Het
Cdh17 T C 4: 11,771,323 (GRCm39) F35S probably damaging Het
Clcn1 T A 6: 42,282,477 (GRCm39) I515N probably damaging Het
Cyp4f17 A G 17: 32,743,068 (GRCm39) Y247C probably damaging Het
Dcp1a T A 14: 30,240,899 (GRCm39) H236Q possibly damaging Het
Dnah11 T A 12: 117,874,764 (GRCm39) N4034Y probably damaging Het
Dsg1a A G 18: 20,473,599 (GRCm39) I891V possibly damaging Het
Eid3 A G 10: 82,703,441 (GRCm39) N301D probably damaging Het
Fbrs C A 7: 127,078,694 (GRCm39) D108E unknown Het
Fbxw14 A C 9: 109,116,071 (GRCm39) probably benign Het
Fzd8 A G 18: 9,214,474 (GRCm39) T519A probably benign Het
Gldc C G 19: 30,078,212 (GRCm39) M928I probably benign Het
Gpr3 C A 4: 132,938,538 (GRCm39) V45L possibly damaging Het
Gramd1b A T 9: 40,215,780 (GRCm39) I690K probably benign Het
Grhl2 T A 15: 37,270,912 (GRCm39) D33E probably damaging Het
Kcnj4 C A 15: 79,369,920 (GRCm39) R20L probably damaging Het
Klhl5 A G 5: 65,305,989 (GRCm39) I319V probably benign Het
Lars2 A T 9: 123,221,892 (GRCm39) E135D possibly damaging Het
Map9 T A 3: 82,291,270 (GRCm39) Y602N possibly damaging Het
Mphosph9 A T 5: 124,463,027 (GRCm39) L6* probably null Het
Naa35 C T 13: 59,748,761 (GRCm39) T131M probably damaging Het
Nucb2 T A 7: 116,121,136 (GRCm39) L22Q possibly damaging Het
Or8g26 A G 9: 39,096,062 (GRCm39) Y193C probably damaging Het
Or8k28 C A 2: 86,286,078 (GRCm39) C179F probably damaging Het
Pcdhb6 C T 18: 37,468,837 (GRCm39) T586I probably benign Het
Ppcs A T 4: 119,279,330 (GRCm39) L74Q probably damaging Het
Ppp6r3 A T 19: 3,517,216 (GRCm39) V677D probably benign Het
Psg27 C T 7: 18,294,337 (GRCm39) G357S probably damaging Het
Ptgdr2 A G 19: 10,918,380 (GRCm39) N299S probably damaging Het
Relb T A 7: 19,353,762 (GRCm39) I39F probably damaging Het
Ripor2 T A 13: 24,901,651 (GRCm39) S907R possibly damaging Het
Rnf31 C A 14: 55,832,396 (GRCm39) Q273K probably benign Het
Rrp36 A T 17: 46,983,336 (GRCm39) S93T probably damaging Het
Rsad1 A T 11: 94,439,100 (GRCm39) V120D probably benign Het
Ryr3 C T 2: 112,661,441 (GRCm39) A1870T probably damaging Het
Serpina10 T G 12: 103,595,063 (GRCm39) D52A probably benign Het
Slc47a1 A G 11: 61,261,055 (GRCm39) I115T probably benign Het
Spag17 T A 3: 99,920,543 (GRCm39) M426K probably benign Het
Sppl2b TGTCACAGGT TGT 10: 80,701,903 (GRCm39) probably null Het
Sptbn4 T G 7: 27,063,592 (GRCm39) E2283A possibly damaging Het
Top3a A G 11: 60,633,877 (GRCm39) C740R probably damaging Het
Tpgs2 A T 18: 25,291,365 (GRCm39) V33E probably damaging Het
Treh T C 9: 44,592,823 (GRCm39) I116T probably damaging Het
Trpm3 A T 19: 22,955,952 (GRCm39) N1138I possibly damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vamp9 A T 5: 100,089,094 (GRCm39) N120Y probably damaging Het
Zswim9 G T 7: 12,994,456 (GRCm39) Q567K probably benign Het
Other mutations in Rnf170
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00703:Rnf170 APN 8 26,615,946 (GRCm39) missense probably damaging 1.00
IGL02100:Rnf170 APN 8 26,614,012 (GRCm39) missense probably damaging 1.00
R0382:Rnf170 UTSW 8 26,615,927 (GRCm39) splice site probably benign
R1537:Rnf170 UTSW 8 26,629,076 (GRCm39) missense probably benign 0.06
R1663:Rnf170 UTSW 8 26,619,171 (GRCm39) missense probably damaging 1.00
R4788:Rnf170 UTSW 8 26,630,891 (GRCm39) missense probably damaging 0.98
R4940:Rnf170 UTSW 8 26,615,939 (GRCm39) nonsense probably null
R5174:Rnf170 UTSW 8 26,619,196 (GRCm39) missense probably benign 0.22
R5511:Rnf170 UTSW 8 26,631,027 (GRCm39) missense probably damaging 1.00
R6115:Rnf170 UTSW 8 26,615,994 (GRCm39) missense possibly damaging 0.57
R6291:Rnf170 UTSW 8 26,630,992 (GRCm39) missense probably damaging 1.00
R7381:Rnf170 UTSW 8 26,613,876 (GRCm39) missense probably benign 0.04
R8138:Rnf170 UTSW 8 26,616,009 (GRCm39) critical splice donor site probably null
R8744:Rnf170 UTSW 8 26,619,408 (GRCm39) missense unknown
R9718:Rnf170 UTSW 8 26,619,243 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TAAGGCAGAAATTACTCACACGTC -3'
(R):5'- TGGGAAAACTAGCAACTGGC -3'

Sequencing Primer
(F):5'- GTCCCCCATGTTGCCTTTATTCAAAG -3'
(R):5'- CAACTGGCAATGATGAAGGTTAAAAC -3'
Posted On 2021-04-30