Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02363:Rnf185'

290614

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf185

Ensembl Gene

ENSMUSG00000020448

Gene Name

ring finger protein 185

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

IGL02363

Quality Score

Status

Chromosome

Chromosomal Location

3415982-3452363 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3418015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 221 (I221T)

Ref Sequence

ENSEMBL: ENSMUSP00000067053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064364] [ENSMUST00000077078]

AlphaFold

Q91YT2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064364
AA Change: I221T

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067053
Gene: ENSMUSG00000020448
AA Change: I221T

Domain	Start	End	E-Value	Type
low complexity region	50	68	N/A	INTRINSIC
RING	75	115	9.23e-9	SMART
low complexity region	143	154	N/A	INTRINSIC
transmembrane domain	167	189	N/A	INTRINSIC
transmembrane domain	209	227	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077078
AA Change: I185T

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

SMART Domains

Protein: ENSMUSP00000076333
Gene: ENSMUSG00000020448
AA Change: I185T

Domain	Start	End	E-Value	Type
low complexity region	14	32	N/A	INTRINSIC
RING	39	79	9.23e-9	SMART
low complexity region	107	118	N/A	INTRINSIC
transmembrane domain	131	153	N/A	INTRINSIC
transmembrane domain	173	191	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144055

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,218,437 (GRCm38)	H1490L	possibly damaging	Het
Ak8	T	C	2: 28,812,898 (GRCm38)	S425P	probably damaging	Het
Comt	T	C	16: 18,411,131 (GRCm38)	D153G	probably benign	Het
Exoc6	T	C	19: 37,608,954 (GRCm38)	I601T	probably damaging	Het
F11	A	T	8: 45,241,531 (GRCm38)	C598S	probably damaging	Het
Galnt13	G	T	2: 55,112,860 (GRCm38)	D524Y	probably damaging	Het
Glb1l3	T	C	9: 26,853,644 (GRCm38)	E157G	probably damaging	Het
Hc	T	C	2: 35,000,835 (GRCm38)	H1323R	probably benign	Het
Hsd3b5	T	C	3: 98,630,105 (GRCm38)	I32V	probably benign	Het
Il6ra	A	G	3: 89,871,253 (GRCm38)	S430P	probably benign	Het
Lama2	G	T	10: 27,366,066 (GRCm38)	T298K	probably damaging	Het
Nedd4l	T	C	18: 65,208,045 (GRCm38)		probably benign	Het
Ntrk3	T	C	7: 78,453,337 (GRCm38)	D405G	probably benign	Het
Opn5	T	C	17: 42,557,491 (GRCm38)	D371G	probably benign	Het
Pcdh15	G	T	10: 74,317,086 (GRCm38)	A408S	probably damaging	Het
Pim3	T	C	15: 88,862,913 (GRCm38)	V54A	probably benign	Het
Prdm5	T	C	6: 65,794,319 (GRCm38)	F38S	probably damaging	Het
Ptgs2	C	T	1: 150,105,709 (GRCm38)		probably null	Het
Slc27a2	T	C	2: 126,578,950 (GRCm38)	F318L	possibly damaging	Het
Spata1	T	C	3: 146,487,364 (GRCm38)	Y124C	possibly damaging	Het
Tmie	G	T	9: 110,870,753 (GRCm38)		probably benign	Het
Tph2	T	C	10: 115,079,981 (GRCm38)	K429R	probably benign	Het
Usp32	A	G	11: 85,044,787 (GRCm38)	Y388H	probably benign	Het
Vmn2r60	A	T	7: 42,195,154 (GRCm38)	Q647L	probably benign	Het

Other mutations in Rnf185

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0026:Rnf185	UTSW	11	3,426,617 (GRCm38)	missense	probably damaging	0.99
R2111:Rnf185	UTSW	11	3,432,393 (GRCm38)	splice site	probably benign
R2225:Rnf185	UTSW	11	3,432,445 (GRCm38)	missense	probably damaging	1.00
R2508:Rnf185	UTSW	11	3,418,067 (GRCm38)	missense	probably benign	0.00
R3907:Rnf185	UTSW	11	3,426,681 (GRCm38)	splice site	probably benign
R4767:Rnf185	UTSW	11	3,432,551 (GRCm38)	missense	possibly damaging	0.83
R7193:Rnf185	UTSW	11	3,425,329 (GRCm38)	missense	possibly damaging	0.66
R7449:Rnf185	UTSW	11	3,426,578 (GRCm38)	missense	probably benign	0.27
R8754:Rnf185	UTSW	11	3,418,052 (GRCm38)	missense	probably benign	0.12
R9404:Rnf185	UTSW	11	3,432,615 (GRCm38)	nonsense	probably null

Posted On

2015-04-16