Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00703:Rnf170'

13841

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf170

Ensembl Gene

ENSMUSG00000013878

Gene Name

ring finger protein 170

Synonyms

6720407G21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

IGL00703

Quality Score

Status

Chromosome

Chromosomal Location

26609396-26633903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26615946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 79 (N79S)

Ref Sequence

ENSEMBL: ENSMUSP00000119906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014022] [ENSMUST00000110575] [ENSMUST00000110579] [ENSMUST00000124757] [ENSMUST00000131138] [ENSMUST00000140819] [ENSMUST00000209707] [ENSMUST00000209300] [ENSMUST00000153528]

AlphaFold

Q8CBG9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014022
AA Change: N79S

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000014022
Gene: ENSMUSG00000013878
AA Change: N79S

Domain	Start	End	E-Value	Type
transmembrane domain	54	73	N/A	INTRINSIC
RING	115	157	1.06e-8	SMART
Pfam:DUF1232	230	267	4.9e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110573

SMART Domains

Protein: ENSMUSP00000106202
Gene: ENSMUSG00000013878

Domain	Start	End	E-Value	Type
transmembrane domain	54	73	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110575
AA Change: N79S

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106204
Gene: ENSMUSG00000013878
AA Change: N79S

Domain	Start	End	E-Value	Type
transmembrane domain	54	73	N/A	INTRINSIC
RING	115	163	1.53e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110579
AA Change: N79S

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106208
Gene: ENSMUSG00000013878
AA Change: N79S

Domain	Start	End	E-Value	Type
transmembrane domain	54	73	N/A	INTRINSIC
RING	115	138	6.02e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000124757
AA Change: N79S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115588
Gene: ENSMUSG00000013878
AA Change: N79S

Domain	Start	End	E-Value	Type
transmembrane domain	54	73	N/A	INTRINSIC
SCOP:d1fbva4	85	135	1e-6	SMART
Blast:RING	115	136	6e-10	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000124867
AA Change: N42S

SMART Domains

Protein: ENSMUSP00000115959
Gene: ENSMUSG00000013878
AA Change: N42S

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
SCOP:d1fbva4	49	99	9e-7	SMART
Blast:RING	79	100	2e-9	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000131138
AA Change: N79S

SMART Domains

Protein: ENSMUSP00000115452
Gene: ENSMUSG00000109850
AA Change: N79S

Domain	Start	End	E-Value	Type
transmembrane domain	54	73	N/A	INTRINSIC
SCOP:d1fbva4	85	135	1e-6	SMART
Blast:RING	115	135	3e-9	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000140819
AA Change: N79S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119906
Gene: ENSMUSG00000013878
AA Change: N79S

Domain	Start	End	E-Value	Type
transmembrane domain	54	73	N/A	INTRINSIC
SCOP:d1fbva4	85	135	1e-6	SMART
Blast:RING	115	135	3e-9	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209707
AA Change: N79S

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209300
AA Change: N79S

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153528
AA Change: N32S

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118689
Gene: ENSMUSG00000013878
AA Change: N32S

Domain	Start	End	E-Value	Type
RING	68	110	1.06e-8	SMART
Pfam:DUF1232	181	221	3.7e-13	PFAM

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 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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	A	T	8: 43,973,216 (GRCm39)	D595E	probably damaging	Het
Bdkrb2	T	C	12: 105,558,614 (GRCm39)	V285A	probably benign	Het
Cdc42se1	A	G	3: 95,139,856 (GRCm39)		probably benign	Het
Dimt1	T	C	13: 107,089,938 (GRCm39)		probably benign	Het
Gpx8	T	C	13: 113,182,047 (GRCm39)	N129D	possibly damaging	Het
Ikbke	A	T	1: 131,183,039 (GRCm39)		probably benign	Het
Mast4	C	A	13: 102,907,275 (GRCm39)	E558*	probably null	Het
Mybpc1	T	C	10: 88,360,970 (GRCm39)		probably null	Het
Nrg3	T	A	14: 38,092,758 (GRCm39)	D609V	probably damaging	Het
Palmd	A	G	3: 116,721,040 (GRCm39)		probably benign	Het
Ppp1r3a	T	C	6: 14,718,407 (GRCm39)	T836A	probably benign	Het
Ptms	T	C	6: 124,891,919 (GRCm39)		probably benign	Het
Slc15a2	T	C	16: 36,578,153 (GRCm39)	I379V	probably benign	Het
Slco1b2	A	T	6: 141,601,078 (GRCm39)	T134S	probably damaging	Het
Tg	G	A	15: 66,568,338 (GRCm39)	V1342I	probably benign	Het
Tsc22d1	A	G	14: 76,742,268 (GRCm39)	R38G	possibly damaging	Het
Ufl1	A	G	4: 25,280,631 (GRCm39)	V72A	possibly damaging	Het
Ugt2b35	A	T	5: 87,156,051 (GRCm39)	Y381F	probably benign	Het
Vil1	T	C	1: 74,463,119 (GRCm39)	L434P	possibly damaging	Het

Other mutations in Rnf170

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8818:Rnf170	UTSW	8	26,629,043 (GRCm39)	missense	probably benign	0.00
R9718:Rnf170	UTSW	8	26,619,243 (GRCm39)	missense	unknown

Posted On

2012-12-06