Mutagenetix > Incidental Mutation

Incidental Mutation 'R8744:Rnf170'

663428

Institutional Source

Beutler Lab

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 #

R8744 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26609396-26633903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26619408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 211 (M211V)

Ref Sequence

ENSEMBL: ENSMUSP00000106204 (fasta)

Gene Model

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

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

unknown
Transcript: ENSMUST00000110575
AA Change: M211V

SMART Domains

Protein: ENSMUSP00000106204
Gene: ENSMUSG00000013878
AA Change: M211V

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: 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

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

probably benign
Transcript: ENSMUST00000209300

Predicted Effect

probably benign
Transcript: ENSMUST00000209707

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

98% (64/65)

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
4930438A08Rik	C	A	11: 58,182,260 (GRCm39)		probably null	Het
Adam2	A	G	14: 66,272,165 (GRCm39)		probably null	Het
Akt2	A	T	7: 27,317,738 (GRCm39)	D94V	probably benign	Het
Anapc7	C	T	5: 122,566,211 (GRCm39)	S40L	probably benign	Het
Ash1l	G	T	3: 88,965,890 (GRCm39)	A2431S	possibly damaging	Het
Atoh1	A	T	6: 64,706,902 (GRCm39)	Q199L	probably damaging	Het
Atp10b	T	C	11: 43,121,177 (GRCm39)	C947R	probably damaging	Het
Ccdc50	G	A	16: 27,255,148 (GRCm39)	V199I	possibly damaging	Het
Ccne1	A	T	7: 37,802,598 (GRCm39)	C65S	probably benign	Het
Cep152	A	G	2: 125,436,791 (GRCm39)		probably null	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Cyp4a10	A	G	4: 115,386,667 (GRCm39)	D438G	probably benign	Het
Dgkb	A	G	12: 38,488,611 (GRCm39)	H659R	probably damaging	Het
Dhx29	A	G	13: 113,089,418 (GRCm39)	I730V	possibly damaging	Het
Dync2h1	G	A	9: 7,011,220 (GRCm39)	Q3658*	probably null	Het
Eif2ak4	C	A	2: 118,261,474 (GRCm39)	C671*	probably null	Het
Eif4g3	AGCGGCGGCGGCGGCGGC	AGCGGCGGCGGCGGC	4: 137,721,372 (GRCm39)		probably benign	Het
Ep400	T	C	5: 110,889,925 (GRCm39)	H446R	unknown	Het
Epb41l2	C	T	10: 25,317,725 (GRCm39)	L81F	probably damaging	Het
Ercc8	G	A	13: 108,320,307 (GRCm39)	A298T	probably benign	Het
Fbxo10	T	C	4: 45,043,880 (GRCm39)	M648V	probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gnpda2	C	T	5: 69,735,459 (GRCm39)	A211T	probably damaging	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Hormad1	T	C	3: 95,469,926 (GRCm39)	Y58H	possibly damaging	Het
Igkv4-81	T	C	6: 68,968,046 (GRCm39)	I18M	possibly damaging	Het
Itgav	G	T	2: 83,600,427 (GRCm39)	A312S	probably benign	Het
Itpr1	G	T	6: 108,354,763 (GRCm39)	A457S	possibly damaging	Het
Kcna10	T	C	3: 107,101,702 (GRCm39)	L111P	probably damaging	Het
Kcnh7	T	C	2: 63,012,433 (GRCm39)	R92G	possibly damaging	Het
Lamc2	G	A	1: 153,019,484 (GRCm39)	P486S	probably benign	Het
Lrba	C	T	3: 86,211,640 (GRCm39)	T420M	probably benign	Het
Lrrc52	G	A	1: 167,294,150 (GRCm39)	T45M	probably benign	Het
Lsm8	C	A	6: 18,853,638 (GRCm39)	A80E	probably benign	Het
Ly6g	T	A	15: 75,027,518 (GRCm39)	S9T	probably benign	Het
Mcc	A	G	18: 44,857,639 (GRCm39)	Y159H	probably benign	Het
Megf11	T	C	9: 64,451,970 (GRCm39)		probably null	Het
Mrpl9	T	A	3: 94,355,082 (GRCm39)		probably benign	Het
Ndst4	T	C	3: 125,506,989 (GRCm39)	F210L	possibly damaging	Het
Or13l2	A	G	3: 97,317,597 (GRCm39)	V300A	probably benign	Het
Or5d40	T	A	2: 88,015,723 (GRCm39)	C167*	probably null	Het
Pappa2	A	G	1: 158,611,487 (GRCm39)	V1492A	possibly damaging	Het
Pcdhga2	A	G	18: 37,804,373 (GRCm39)	H739R	probably benign	Het
Pcdhga8	A	G	18: 37,860,827 (GRCm39)	T628A	probably damaging	Het
Plekhn1	C	T	4: 156,318,364 (GRCm39)	R86H	probably damaging	Het
Pofut1	T	A	2: 153,101,461 (GRCm39)	W72R	probably benign	Het
Polr3b	C	A	10: 84,464,488 (GRCm39)		probably benign	Het
Rab3b	A	T	4: 108,781,184 (GRCm39)	I104F	probably damaging	Het
Rab5b	A	T	10: 128,518,751 (GRCm39)	V127D	probably damaging	Het
Rpl7	T	C	1: 16,172,113 (GRCm39)	T218A	probably benign	Het
Serinc2	T	C	4: 130,158,988 (GRCm39)		probably benign	Het
Socs2	T	A	10: 95,228,662 (GRCm39)	Q196L		Het
Stab2	T	C	10: 86,805,213 (GRCm39)	H255R	probably benign	Het
Syvn1	G	A	19: 6,099,198 (GRCm39)	G149D	probably damaging	Het
Them5	T	C	3: 94,253,472 (GRCm39)	S161P	probably damaging	Het
Tlr1	A	T	5: 65,083,873 (GRCm39)	Y235N	possibly damaging	Het
Toporsl	T	C	4: 52,611,967 (GRCm39)	L620P	probably benign	Het
Traf3	A	T	12: 111,228,230 (GRCm39)	E480D	probably benign	Het
Trav13n-4	A	G	14: 53,601,399 (GRCm39)	Y56C	probably damaging	Het
Trps1	T	C	15: 50,524,642 (GRCm39)	Y1096C	probably damaging	Het
Usp2	A	G	9: 43,998,510 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,911,491 (GRCm39)	L512Q	probably benign	Het
Vmn1r175	T	C	7: 23,508,403 (GRCm39)	T75A	probably benign	Het
Zan	A	G	5: 137,426,126 (GRCm39)	V2550A	unknown	Het
Zfp235	A	T	7: 23,839,924 (GRCm39)	E114D	possibly damaging	Het
Zmym1	A	T	4: 126,945,165 (GRCm39)	D141E	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
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
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'- ACCAGCTTGAGACCTTTGTG -3'
(R):5'- TTTCCTAAAGCTTGGACCCC -3'

Sequencing Primer
(F):5'- CCAGCTTGAGACCTTTGTGGATTG -3'
(R):5'- CTTGGACCCCACGCATG -3'

Posted On

2021-03-08