Mutagenetix > Incidental Mutation

Incidental Mutation 'R6115:Rnf170'

485081

Institutional Source

Beutler Lab

Gene Symbol

Rnf170

Ensembl Gene

ENSMUSG00000013878

Gene Name

ring finger protein 170

Synonyms

6720407G21Rik

MMRRC Submission

044264-MU

Accession Numbers

Essential gene?

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

Stock #

R6115 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26609396-26633903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26615994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 95 (F95S)

Ref Sequence

ENSEMBL: ENSMUSP00000119906 (fasta)

Gene Model

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

AlphaFold

Q8CBG9

Predicted Effect

probably benign
Transcript: ENSMUST00000014022
AA Change: F95S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000014022
Gene: ENSMUSG00000013878
AA Change: F95S

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: F95S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106204
Gene: ENSMUSG00000013878
AA Change: F95S

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
AA Change: F95S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106208
Gene: ENSMUSG00000013878
AA Change: F95S

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
AA Change: F95S

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115588
Gene: ENSMUSG00000013878
AA Change: F95S

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: F58S

SMART Domains

Protein: ENSMUSP00000115959
Gene: ENSMUSG00000013878
AA Change: F58S

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: F95S

SMART Domains

Protein: ENSMUSP00000115452
Gene: ENSMUSG00000109850
AA Change: F95S

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
AA Change: F95S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140819
AA Change: F95S

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119906
Gene: ENSMUSG00000013878
AA Change: F95S

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: ENSMUST00000209300
AA Change: F95S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000153528
AA Change: F48S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118689
Gene: ENSMUSG00000013878
AA Change: F48S

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (51/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	G	5: 64,055,317 (GRCm39)	Q18E	probably damaging	Het
Acsf3	T	A	8: 123,517,411 (GRCm39)	H402Q	probably damaging	Het
Adam34	T	G	8: 44,105,098 (GRCm39)	Q182H	probably benign	Het
Alx1	G	A	10: 102,864,304 (GRCm39)	P55L	possibly damaging	Het
Arhgef38	A	T	3: 132,838,374 (GRCm39)		probably null	Het
Ccdc102a	T	C	8: 95,629,999 (GRCm39)	N514S	probably benign	Het
Corin	T	A	5: 72,518,072 (GRCm39)	T317S	probably damaging	Het
Ctnna2	A	G	6: 77,613,822 (GRCm39)	V256A	probably benign	Het
Dhx29	A	T	13: 113,089,335 (GRCm39)		probably null	Het
Dnah2	C	A	11: 69,337,475 (GRCm39)	D3209Y	probably damaging	Het
Dnhd1	A	G	7: 105,363,194 (GRCm39)	T3919A	probably benign	Het
F7	T	A	8: 13,083,958 (GRCm39)	N214K	probably benign	Het
Fam3b	T	G	16: 97,276,568 (GRCm39)	Q177H	possibly damaging	Het
Fign	T	C	2: 63,809,654 (GRCm39)	I539V	probably benign	Het
Hc	T	G	2: 34,903,050 (GRCm39)	D1067A	probably damaging	Het
Herc6	A	G	6: 57,560,191 (GRCm39)	D77G	probably benign	Het
Hmg20a	A	T	9: 56,397,116 (GRCm39)	E305D	possibly damaging	Het
Il16	G	A	7: 83,301,775 (GRCm39)	Q116*	probably null	Het
Kif13a	T	A	13: 46,954,789 (GRCm39)	I648F	probably damaging	Het
Lactb	G	T	9: 66,874,969 (GRCm39)	N374K	possibly damaging	Het
Lmx1b	T	C	2: 33,459,118 (GRCm39)	D145G	probably damaging	Het
Lrfn4	T	C	19: 4,663,937 (GRCm39)	D199G	probably damaging	Het
Lrrc49	A	T	9: 60,522,444 (GRCm39)	V307E	possibly damaging	Het
Magi1	A	C	6: 93,685,051 (GRCm39)	S776A	possibly damaging	Het
Mthfsl	T	A	9: 88,570,807 (GRCm39)	*147L	probably null	Het
Nsmce4a	G	T	7: 130,148,722 (GRCm39)	Q95K	probably benign	Het
Or1j15	A	T	2: 36,458,963 (GRCm39)	M118L	probably damaging	Het
Or4k37	A	G	2: 111,159,558 (GRCm39)	T265A	probably benign	Het
Or4k49	A	T	2: 111,494,987 (GRCm39)	K139*	probably null	Het
Or5b24	T	C	19: 12,912,948 (GRCm39)	V282A	possibly damaging	Het
Pcdha7	A	G	18: 37,107,788 (GRCm39)	E271G	probably damaging	Het
Pcdhga8	T	A	18: 37,860,596 (GRCm39)	F551I	possibly damaging	Het
Prpf31	T	C	7: 3,642,705 (GRCm39)		probably null	Het
Qrfpr	C	T	3: 36,236,742 (GRCm39)	V220I	possibly damaging	Het
Scn9a	T	A	2: 66,393,973 (GRCm39)	Y200F	possibly damaging	Het
Sfpq	A	T	4: 126,915,141 (GRCm39)		probably null	Het
Slc9c1	A	T	16: 45,376,132 (GRCm39)	Y406F	probably damaging	Het
Stk32c	G	T	7: 138,700,628 (GRCm39)	Y200*	probably null	Het
Svil	A	G	18: 5,108,675 (GRCm39)	R1938G	probably damaging	Het
Sycp2	G	C	2: 177,990,038 (GRCm39)	R1403G	probably benign	Het
Tm9sf4	T	C	2: 153,024,409 (GRCm39)		probably null	Het
Tmc3	A	T	7: 83,264,170 (GRCm39)	M633L	possibly damaging	Het
Tmem163	T	C	1: 127,605,185 (GRCm39)	D61G	possibly damaging	Het
Unc5b	C	A	10: 60,613,325 (GRCm39)	A304S	probably benign	Het
Vmn2r106	G	A	17: 20,488,638 (GRCm39)	P587L	probably benign	Het
Vmn2r18	A	T	5: 151,508,462 (GRCm39)	S221T	possibly damaging	Het
Vmn2r85	T	G	10: 130,258,672 (GRCm39)	Y461S	probably damaging	Het
Yod1	T	C	1: 130,646,800 (GRCm39)	F226L	possibly damaging	Het
Zbtb4	T	C	11: 69,667,148 (GRCm39)	I151T	probably damaging	Het
Zfp110	A	T	7: 12,583,701 (GRCm39)	Q783L	probably damaging	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
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
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'- TTAGGTTACATTAACTCACCAGGA -3'
(R):5'- CAAAAGAACATGTGCTTAATCTGAAA -3'

Sequencing Primer
(F):5'- AATGATGTCAGATGCCTGCC -3'
(R):5'- GAGTAAAGCAGCTGATGC -3'

Posted On

2017-08-16