Incidental Mutation 'R1537:Rnf170'
ID 169598
Institutional Source Beutler Lab
Gene Symbol Rnf170
Ensembl Gene ENSMUSG00000013878
Gene Name ring finger protein 170
Synonyms 6720407G21Rik
MMRRC Submission 039576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R1537 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 26609396-26633903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26629076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 183 (D183E)
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: D183E

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000014022
Gene: ENSMUSG00000013878
AA Change: D183E

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: D136E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000118689
Gene: ENSMUSG00000013878
AA Change: D136E

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: D183E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.7%
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,372,124 (GRCm39) H86L possibly damaging Het
4930519G04Rik A G 5: 115,008,278 (GRCm39) T31A probably benign Het
Ahcyl1 A G 3: 107,603,505 (GRCm39) F30S probably benign Het
Alox5ap G A 5: 149,201,993 (GRCm39) probably null Het
Amtn A G 5: 88,526,729 (GRCm39) S53G probably null Het
Arap3 A T 18: 38,122,737 (GRCm39) probably null Het
Ash1l T A 3: 88,979,783 (GRCm39) V2769E probably damaging Het
Atp8b1 C T 18: 64,678,335 (GRCm39) V854M probably damaging Het
Bhlha9 C T 11: 76,563,457 (GRCm39) S28L probably benign Het
Bltp2 T A 11: 78,180,169 (GRCm39) Y2150N probably damaging Het
Bmpr2 A G 1: 59,907,285 (GRCm39) T793A probably benign Het
Ccdc80 G A 16: 44,916,299 (GRCm39) A352T probably benign Het
Chst2 A T 9: 95,288,194 (GRCm39) F51I probably benign Het
Col14a1 A G 15: 55,244,163 (GRCm39) N412S unknown Het
Dclk2 T C 3: 86,713,491 (GRCm39) I451V probably damaging Het
Ddb2 A G 2: 91,065,234 (GRCm39) S64P probably benign Het
Diaph1 A G 18: 38,029,146 (GRCm39) probably null Het
Dnai3 T C 3: 145,748,504 (GRCm39) E870G probably damaging Het
Dusp4 G T 8: 35,285,570 (GRCm39) R277L probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Garem1 A T 18: 21,301,931 (GRCm39) probably null Het
Gnpat A G 8: 125,597,555 (GRCm39) E39G probably damaging Het
Golgb1 A T 16: 36,719,150 (GRCm39) Q352L possibly damaging Het
Hdlbp T C 1: 93,345,096 (GRCm39) D803G probably benign Het
Hps1 A G 19: 42,748,143 (GRCm39) probably null Het
Ilvbl G A 10: 78,415,565 (GRCm39) R327H probably benign Het
Itpr3 A G 17: 27,333,121 (GRCm39) D1911G possibly damaging Het
Lmo7 T A 14: 102,166,700 (GRCm39) probably benign Het
Mcm10 G A 2: 5,003,591 (GRCm39) T542I possibly damaging Het
Med1 A G 11: 98,051,772 (GRCm39) V497A probably damaging Het
Mn1 G A 5: 111,602,646 (GRCm39) A1295T probably damaging Het
Myh7b A C 2: 155,473,707 (GRCm39) D1580A probably damaging Het
Naa20 A G 2: 145,754,438 (GRCm39) I101V probably benign Het
Nav3 T C 10: 109,702,846 (GRCm39) Y229C probably damaging Het
Obscn T C 11: 58,891,575 (GRCm39) R6986G unknown Het
Or51h7 G A 7: 102,591,547 (GRCm39) T79I probably damaging Het
Or8b4 A G 9: 37,830,570 (GRCm39) I211V probably benign Het
P2rx3 A G 2: 84,853,825 (GRCm39) probably null Het
Pcdhac2 G A 18: 37,279,539 (GRCm39) G840R possibly damaging Het
Pclo A G 5: 14,762,489 (GRCm39) N3654S unknown Het
Pcnx2 T A 8: 126,604,188 (GRCm39) E689D possibly damaging Het
Pds5a A G 5: 65,804,464 (GRCm39) S532P probably benign Het
Phf1 G A 17: 27,154,372 (GRCm39) probably null Het
Pkp4 G A 2: 59,045,147 (GRCm39) V41M probably damaging Het
Prlr T G 15: 10,328,364 (GRCm39) probably null Het
Prr12 G T 7: 44,678,366 (GRCm39) A1954D unknown Het
Prtg A G 9: 72,717,039 (GRCm39) T127A probably benign Het
Ptprh A G 7: 4,552,698 (GRCm39) L884P probably damaging Het
Rrp12 A T 19: 41,875,242 (GRCm39) H339Q probably damaging Het
Rubcnl T G 14: 75,278,267 (GRCm39) S350R possibly damaging Het
Sgo2b T A 8: 64,379,536 (GRCm39) T1099S possibly damaging Het
Ska2 T C 11: 87,006,945 (GRCm39) S17P probably damaging Het
Slc38a2 A G 15: 96,591,034 (GRCm39) I243T possibly damaging Het
Sptan1 T A 2: 29,916,034 (GRCm39) D2007E possibly damaging Het
Taar5 T A 10: 23,846,620 (GRCm39) L6H probably benign Het
Tbata G T 10: 61,019,270 (GRCm39) probably null Het
Tent2 C T 13: 93,312,076 (GRCm39) G208D probably damaging Het
Tmem107 T C 11: 68,963,284 (GRCm39) S98P probably damaging Het
Tpst2 A G 5: 112,456,286 (GRCm39) D275G possibly damaging Het
Ttc28 G T 5: 111,433,184 (GRCm39) G2073W probably damaging Het
Ttc7 T C 17: 87,629,891 (GRCm39) V291A possibly damaging Het
Vps13b T A 15: 35,792,327 (GRCm39) N2198K possibly damaging Het
Wdr37 A T 13: 8,887,039 (GRCm39) D249E probably benign Het
Xirp2 G T 2: 67,340,357 (GRCm39) C866F probably damaging Het
Zfp990 A G 4: 145,263,566 (GRCm39) E188G possibly damaging Het
Zkscan2 A G 7: 123,099,064 (GRCm39) S43P possibly damaging Het
Zscan5b A G 7: 6,236,850 (GRCm39) R200G 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
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
R8818:Rnf170 UTSW 8 26,629,043 (GRCm39) missense probably benign 0.00
R9718:Rnf170 UTSW 8 26,619,243 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAGTCAGTCGGGAGTGCCTAAATC -3'
(R):5'- CTGCCCTCTGGGAAAACTAGCAAC -3'

Sequencing Primer
(F):5'- TGTAAGGCAGAAATTACTCACACG -3'
(R):5'- AACTAGCAACTGGCAATGATG -3'
Posted On 2014-04-13