Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03066:Rnf169'

409700

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf169

Ensembl Gene

ENSMUSG00000058761

Gene Name

ring finger protein 169

Synonyms

2900057K09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

IGL03066

Quality Score

Status

Chromosome

Chromosomal Location

99569461-99629655 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99574760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 612 (R612S)

Ref Sequence

ENSEMBL: ENSMUSP00000079631 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080817]

AlphaFold

E9Q7F2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080817
AA Change: R612S

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000079631
Gene: ENSMUSG00000058761
AA Change: R612S

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
low complexity region	32	46	N/A	INTRINSIC
RING	61	96	3.16e-1	SMART
Blast:RING	133	176	7e-8	BLAST
low complexity region	302	314	N/A	INTRINSIC
low complexity region	649	661	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brd4	A	C	17: 32,418,062 (GRCm39)		probably benign	Het
Cd209d	C	A	8: 3,928,437 (GRCm39)		probably null	Het
Cela2a	T	A	4: 141,548,765 (GRCm39)	I124F	probably damaging	Het
Cemip2	G	A	19: 21,801,207 (GRCm39)	D775N	possibly damaging	Het
Cnot2	A	T	10: 116,335,262 (GRCm39)	N245K	probably benign	Het
Cpt2	A	G	4: 107,765,183 (GRCm39)	F148L	probably benign	Het
Ctsj	A	C	13: 61,152,302 (GRCm39)	H21Q	possibly damaging	Het
Cul4a	A	G	8: 13,183,776 (GRCm39)	N388S	probably benign	Het
Dnah12	A	G	14: 26,418,553 (GRCm39)	D147G	probably benign	Het
Dnhd1	A	G	7: 105,369,089 (GRCm39)	T4287A	probably damaging	Het
Dock10	C	A	1: 80,562,758 (GRCm39)	C534F	probably benign	Het
Efcab14	A	G	4: 115,596,001 (GRCm39)	E49G	probably benign	Het
Fancm	G	T	12: 65,171,888 (GRCm39)	E86*	probably null	Het
Galnt17	A	T	5: 130,929,486 (GRCm39)	S440R	probably benign	Het
Hectd4	T	A	5: 121,503,116 (GRCm39)	Y4362N	possibly damaging	Het
Lctl	T	G	9: 64,025,017 (GRCm39)	M1R	probably null	Het
Llgl1	A	G	11: 60,596,860 (GRCm39)	T154A	possibly damaging	Het
Mink1	G	T	11: 70,499,715 (GRCm39)	V750F	probably benign	Het
Mroh7	A	G	4: 106,549,595 (GRCm39)	V950A	possibly damaging	Het
Myg1	G	A	15: 102,242,801 (GRCm39)		probably benign	Het
Or4x11	A	T	2: 89,867,778 (GRCm39)	I172F	probably damaging	Het
Or6b2b	T	A	1: 92,419,305 (GRCm39)	R57S	probably damaging	Het
Or7d10	A	G	9: 19,831,667 (GRCm39)	H54R	probably benign	Het
Pask	A	T	1: 93,258,588 (GRCm39)	S253R	probably benign	Het
Pkd1	C	A	17: 24,805,208 (GRCm39)	H3253Q	probably damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Rapgef4	A	G	2: 71,971,523 (GRCm39)		probably benign	Het
Sclt1	A	T	3: 41,672,278 (GRCm39)	D104E	probably benign	Het
Shh	G	T	5: 28,666,369 (GRCm39)	D172E	probably damaging	Het
Sil1	G	T	18: 35,402,259 (GRCm39)		probably benign	Het
Slc19a3	A	G	1: 82,992,557 (GRCm39)	I388T	probably damaging	Het
Spink5	A	G	18: 44,149,457 (GRCm39)	Y946C	probably damaging	Het
Sulf1	A	T	1: 12,878,168 (GRCm39)	I219F	probably damaging	Het
Tcf3	T	C	10: 80,248,879 (GRCm39)	D529G	probably damaging	Het
Txnip	G	A	3: 96,466,934 (GRCm39)	E203K	probably damaging	Het
Ubc	G	T	5: 125,465,327 (GRCm39)		probably benign	Het
Ubxn4	A	T	1: 128,188,591 (GRCm39)		probably null	Het
Usp16	T	C	16: 87,268,721 (GRCm39)	V284A	probably damaging	Het
Vmn2r6	T	A	3: 64,472,574 (GRCm39)	N49I	probably damaging	Het
Ythdf1	A	T	2: 180,553,339 (GRCm39)	I292N	probably damaging	Het
Zfp128	A	G	7: 12,624,044 (GRCm39)	I137M	probably benign	Het

Other mutations in Rnf169

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01476:Rnf169	APN	7	99,604,691 (GRCm39)	missense	probably damaging	1.00
IGL02344:Rnf169	APN	7	99,575,642 (GRCm39)	missense	probably damaging	1.00
R0201:Rnf169	UTSW	7	99,575,210 (GRCm39)	missense	possibly damaging	0.85
R1087:Rnf169	UTSW	7	99,592,204 (GRCm39)	missense	probably benign	0.01
R1289:Rnf169	UTSW	7	99,574,943 (GRCm39)	missense	probably benign	0.01
R1476:Rnf169	UTSW	7	99,574,535 (GRCm39)	missense	possibly damaging	0.72
R1912:Rnf169	UTSW	7	99,575,461 (GRCm39)	missense	probably damaging	1.00
R1964:Rnf169	UTSW	7	99,574,732 (GRCm39)	missense	probably damaging	1.00
R2057:Rnf169	UTSW	7	99,574,615 (GRCm39)	missense	probably damaging	1.00
R2342:Rnf169	UTSW	7	99,574,652 (GRCm39)	missense	possibly damaging	0.87
R4755:Rnf169	UTSW	7	99,574,930 (GRCm39)	missense	probably benign	0.01
R4801:Rnf169	UTSW	7	99,575,653 (GRCm39)	missense	probably damaging	1.00
R4802:Rnf169	UTSW	7	99,575,653 (GRCm39)	missense	probably damaging	1.00
R5391:Rnf169	UTSW	7	99,584,367 (GRCm39)	critical splice donor site	probably null
R5395:Rnf169	UTSW	7	99,584,367 (GRCm39)	critical splice donor site	probably null
R5643:Rnf169	UTSW	7	99,576,338 (GRCm39)	missense	possibly damaging	0.85
R5817:Rnf169	UTSW	7	99,574,976 (GRCm39)	missense	probably benign	0.02
R5952:Rnf169	UTSW	7	99,574,840 (GRCm39)	missense	probably damaging	1.00
R6009:Rnf169	UTSW	7	99,576,330 (GRCm39)	missense	possibly damaging	0.92
R6453:Rnf169	UTSW	7	99,584,434 (GRCm39)	missense	probably benign	0.01
R7238:Rnf169	UTSW	7	99,574,954 (GRCm39)	missense	probably benign	0.10
R7500:Rnf169	UTSW	7	99,629,445 (GRCm39)	missense	probably damaging	0.99
R8194:Rnf169	UTSW	7	99,575,651 (GRCm39)	missense	probably damaging	1.00
R9227:Rnf169	UTSW	7	99,574,699 (GRCm39)	missense	possibly damaging	0.82
R9469:Rnf169	UTSW	7	99,575,567 (GRCm39)	missense	possibly damaging	0.92
R9548:Rnf169	UTSW	7	99,574,690 (GRCm39)	missense	probably damaging	1.00
R9729:Rnf169	UTSW	7	99,575,477 (GRCm39)	missense	probably damaging	1.00
Z1177:Rnf169	UTSW	7	99,575,068 (GRCm39)	missense	not run

Posted On

2016-08-02