Mutagenetix > Incidental Mutation

Incidental Mutation 'R5174:Rnf170'

399010

Institutional Source

Beutler Lab

Gene Symbol

Rnf170

Ensembl Gene

ENSMUSG00000013878

Gene Name

ring finger protein 170

Synonyms

6720407G21Rik

MMRRC Submission

042754-MU

Accession Numbers

Essential gene?

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

Stock #

R5174 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26609396-26633903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26619196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 140 (M140K)

Ref Sequence

ENSEMBL: ENSMUSP00000106204 (fasta)

Gene Model

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

AlphaFold

Q8CBG9

Predicted Effect

probably benign
Transcript: ENSMUST00000014022

SMART Domains

Protein: ENSMUSP00000014022
Gene: ENSMUSG00000013878

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

probably benign
Transcript: ENSMUST00000110575
AA Change: M140K

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106204
Gene: ENSMUSG00000013878
AA Change: M140K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110579

SMART Domains

Protein: ENSMUSP00000106208
Gene: ENSMUSG00000013878

Domain	Start	End	E-Value	Type
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

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

probably benign
Transcript: ENSMUST00000124867

SMART Domains

Protein: ENSMUSP00000115959
Gene: ENSMUSG00000013878

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

probably benign
Transcript: ENSMUST00000131138

SMART Domains

Protein: ENSMUSP00000115452
Gene: ENSMUSG00000109850

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 benign
Transcript: ENSMUST00000209707

Predicted Effect

probably benign
Transcript: ENSMUST00000209300

Predicted Effect

probably benign
Transcript: ENSMUST00000153528

SMART Domains

Protein: ENSMUSP00000118689
Gene: ENSMUSG00000013878

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209486

Predicted Effect

probably benign
Transcript: ENSMUST00000140819

SMART Domains

Protein: ENSMUSP00000119906
Gene: ENSMUSG00000013878

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

99% (69/70)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	T	C	10: 69,728,209 (GRCm39)	S632P	probably damaging	Het
Arhgef16	G	A	4: 154,366,504 (GRCm39)	R451W	probably damaging	Het
Asxl3	A	T	18: 22,656,172 (GRCm39)	D1394V	probably benign	Het
Atp2a3	T	A	11: 72,871,041 (GRCm39)	I545N	probably damaging	Het
Cadps2	T	A	6: 23,287,742 (GRCm39)	Y1181F	probably damaging	Het
Camkmt	C	A	17: 85,759,665 (GRCm39)	F268L	probably benign	Het
Casp14	C	T	10: 78,551,225 (GRCm39)	G20D	possibly damaging	Het
Celf1	T	C	2: 90,831,353 (GRCm39)	C61R	probably damaging	Het
Cenpp	CAAACCTGAAAA	CAAA	13: 49,618,258 (GRCm39)		probably null	Het
Cers3	A	T	7: 66,434,616 (GRCm39)	K203M	probably damaging	Het
Clip4	T	C	17: 72,117,957 (GRCm39)	F334S	probably damaging	Het
Cyp2b13	T	A	7: 25,788,118 (GRCm39)	D415E	possibly damaging	Het
Decr2	A	T	17: 26,306,443 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,352,768 (GRCm39)		probably null	Het
Dnah7b	G	A	1: 46,282,509 (GRCm39)	A2881T	possibly damaging	Het
Dnaja3	A	G	16: 4,502,161 (GRCm39)	H55R	probably benign	Het
Dnajc11	T	C	4: 152,064,441 (GRCm39)	F531L	probably damaging	Het
Efcab6	A	G	15: 83,938,687 (GRCm39)	F10L	probably benign	Het
Epm2aip1	T	C	9: 111,102,455 (GRCm39)	F476S	probably damaging	Het
Fat3	T	C	9: 15,910,866 (GRCm39)	N1712S	probably damaging	Het
Flnc	T	C	6: 29,448,893 (GRCm39)	V1343A	possibly damaging	Het
Fsip2	C	T	2: 82,811,085 (GRCm39)	P2468L	probably benign	Het
Gm5798	A	G	14: 41,070,620 (GRCm39)	H10R	possibly damaging	Het
Gm7168	A	G	17: 14,168,717 (GRCm39)	Y28C	probably damaging	Het
Gtpbp6	G	A	5: 110,255,983 (GRCm39)	R19C	possibly damaging	Het
Gucy2e	A	G	11: 69,127,392 (GRCm39)	F27S	probably benign	Het
Inhca	C	T	9: 103,159,755 (GRCm39)		probably null	Het
Krba1	A	G	6: 48,389,229 (GRCm39)	E548G	probably damaging	Het
Ltbr	A	G	6: 125,286,500 (GRCm39)	S229P	probably benign	Het
Mgat5b	A	T	11: 116,868,541 (GRCm39)	Y488F	probably benign	Het
Mia3	T	A	1: 183,112,348 (GRCm39)	K475*	probably null	Het
Mrpl53	C	T	6: 83,086,638 (GRCm39)	T114M	possibly damaging	Het
Mrps35	T	C	6: 146,961,709 (GRCm39)	Y195H	possibly damaging	Het
Muc4	A	T	16: 32,570,556 (GRCm39)	I539F	possibly damaging	Het
Nedd1	T	A	10: 92,547,074 (GRCm39)	T150S	possibly damaging	Het
Nox4	T	G	7: 86,972,974 (GRCm39)	I327S	probably benign	Het
Nrk	C	G	X: 137,887,528 (GRCm39)	A1018G	probably benign	Het
Or4c102	T	A	2: 88,422,992 (GRCm39)	N281K	probably damaging	Het
Or4d5	T	C	9: 40,012,043 (GRCm39)	T248A	possibly damaging	Het
Or52ae7	T	A	7: 103,119,610 (GRCm39)	F121L	probably benign	Het
Or5w19	T	A	2: 87,698,755 (GRCm39)	V140E	possibly damaging	Het
Pdzd2	G	A	15: 12,372,600 (GRCm39)	P2512S	probably benign	Het
Ptgis	T	A	2: 167,045,390 (GRCm39)		probably null	Het
Scaf4	A	T	16: 90,044,062 (GRCm39)	I637K	unknown	Het
Sdccag8	A	T	1: 176,672,916 (GRCm39)	T270S	probably damaging	Het
Sec24d	T	C	3: 123,158,575 (GRCm39)	C1022R	probably damaging	Het
Sec63	T	C	10: 42,705,077 (GRCm39)		probably benign	Het
Serpinb3d	C	G	1: 107,006,228 (GRCm39)	E287Q	possibly damaging	Het
Silc1	A	T	12: 27,192,027 (GRCm39)		noncoding transcript	Het
Smarcd2	A	G	11: 106,157,871 (GRCm39)		probably benign	Het
Sox15	A	G	11: 69,546,545 (GRCm39)	Y116C	probably damaging	Het
Spag16	T	C	1: 70,532,955 (GRCm39)	S545P	probably damaging	Het
Ssc5d	C	A	7: 4,930,970 (GRCm39)	T184N	possibly damaging	Het
St6galnac2	A	T	11: 116,572,773 (GRCm39)	F228I	probably damaging	Het
Syne1	T	C	10: 4,991,490 (GRCm39)	N8408S	probably damaging	Het
Trank1	A	C	9: 111,194,627 (GRCm39)	T884P	probably benign	Het
Ubr3	T	A	2: 69,839,506 (GRCm39)	L1540H	probably damaging	Het
Ugt2b37	C	A	5: 87,399,739 (GRCm39)	M256I	probably benign	Het
Vmn2r69	G	A	7: 85,064,739 (GRCm39)	T49I	possibly damaging	Het
Vmn2r72	T	A	7: 85,387,048 (GRCm39)	I839L	probably benign	Het
Zcrb1	A	G	15: 93,285,456 (GRCm39)		probably null	Het
Zfp319	A	T	8: 96,054,797 (GRCm39)		probably null	Het
Zfp592	T	C	7: 80,688,073 (GRCm39)	S1000P	probably damaging	Het
Zfp938	T	C	10: 82,061,838 (GRCm39)	N261D	possibly damaging	Het
Zfp957	A	G	14: 79,450,828 (GRCm39)	S324P	unknown	Het
Zswim6	G	T	13: 107,863,216 (GRCm39)		noncoding transcript	Het

Other mutations in Rnf170

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CTATTGCGCATGTGTAATTTCTGTC -3'
(R):5'- TCCTAAAGCTTGGACCCCAC -3'

Sequencing Primer
(F):5'- CTTGAGAGATGTCTGTGTCCTTTCC -3'
(R):5'- AAGGCTTCTGCATGATAGCC -3'

Posted On

2016-07-06