Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02986:Rnf215'

406713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf215

Ensembl Gene

ENSMUSG00000003581

Gene Name

ring finger protein 215

Synonyms

0610009J22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02986

Quality Score

Status

Chromosome

Chromosomal Location

4085202-4091172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4089793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 269 (T269A)

Ref Sequence

ENSEMBL: ENSMUSP00000003677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003677] [ENSMUST00000093381] [ENSMUST00000101626] [ENSMUST00000124670] [ENSMUST00000145705]

AlphaFold

Q5SPX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000003677
AA Change: T269A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000003677
Gene: ENSMUSG00000003581
AA Change: T269A

Domain	Start	End	E-Value	Type
signal peptide	1	45	N/A	INTRINSIC
low complexity region	82	97	N/A	INTRINSIC
low complexity region	149	162	N/A	INTRINSIC
low complexity region	274	285	N/A	INTRINSIC
RING	327	367	6.89e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093381

SMART Domains

Protein: ENSMUSP00000091074
Gene: ENSMUSG00000051427

Domain	Start	End	E-Value	Type
low complexity region	76	88	N/A	INTRINSIC
low complexity region	321	343	N/A	INTRINSIC
low complexity region	385	414	N/A	INTRINSIC
SCOP:d1fxkc_	452	595	4e-5	SMART
low complexity region	639	659	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101626

SMART Domains

Protein: ENSMUSP00000099148
Gene: ENSMUSG00000051427

Domain	Start	End	E-Value	Type
low complexity region	219	241	N/A	INTRINSIC
low complexity region	283	312	N/A	INTRINSIC
SCOP:d1fxkc_	350	493	3e-4	SMART
low complexity region	537	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124670

SMART Domains

Protein: ENSMUSP00000114532
Gene: ENSMUSG00000003581

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
low complexity region	87	111	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137060

Predicted Effect

probably benign
Transcript: ENSMUST00000145705

SMART Domains

Protein: ENSMUSP00000117540
Gene: ENSMUSG00000003581

Domain	Start	End	E-Value	Type
signal peptide	1	45	N/A	INTRINSIC
low complexity region	82	97	N/A	INTRINSIC
low complexity region	149	162	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175339

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,263,311 (GRCm39)	V264A	possibly damaging	Het
Akr1c6	G	T	13: 4,486,414 (GRCm39)	V74L	probably benign	Het
Atp10a	T	G	7: 58,478,469 (GRCm39)	V1504G	probably benign	Het
Ccng1	A	G	11: 40,641,690 (GRCm39)		probably benign	Het
Celsr3	A	T	9: 108,718,454 (GRCm39)		probably null	Het
Coro1b	T	C	19: 4,199,470 (GRCm39)	V43A	possibly damaging	Het
Dab1	A	G	4: 104,336,418 (GRCm39)	T5A	probably benign	Het
Dennd5a	C	T	7: 109,534,731 (GRCm39)	A47T	probably benign	Het
Dgkb	A	G	12: 38,150,399 (GRCm39)	T69A	possibly damaging	Het
Dhx37	G	A	5: 125,496,379 (GRCm39)	P721L	probably damaging	Het
Efr3b	T	C	12: 4,016,495 (GRCm39)	N641D	probably benign	Het
Espnl	A	T	1: 91,272,572 (GRCm39)	Q600L	probably benign	Het
Esyt1	A	G	10: 128,352,626 (GRCm39)	V693A	probably damaging	Het
Fscn2	A	G	11: 120,258,176 (GRCm39)	D366G	possibly damaging	Het
Gcsam	C	A	16: 45,440,366 (GRCm39)	F136L	probably benign	Het
Gm10643	A	T	8: 84,790,887 (GRCm39)		probably benign	Het
Habp2	A	T	19: 56,299,624 (GRCm39)	D174V	probably benign	Het
Hgfac	T	C	5: 35,201,207 (GRCm39)	V210A	probably benign	Het
Hipk3	T	C	2: 104,264,086 (GRCm39)	D804G	probably damaging	Het
L3mbtl1	T	C	2: 162,812,225 (GRCm39)	W757R	probably damaging	Het
Lrrfip2	A	G	9: 110,990,461 (GRCm39)		probably null	Het
Ly75	T	C	2: 60,138,535 (GRCm39)	D1444G	probably damaging	Het
Mars1	A	G	10: 127,133,438 (GRCm39)	V765A	probably benign	Het
Med1	A	G	11: 98,047,086 (GRCm39)		probably benign	Het
Msln	G	A	17: 25,971,907 (GRCm39)		probably benign	Het
Nup188	T	A	2: 30,197,645 (GRCm39)		probably null	Het
Or1p1c	T	G	11: 74,160,928 (GRCm39)	F238V	possibly damaging	Het
Or7e173	A	T	9: 19,939,007 (GRCm39)	F76I	probably benign	Het
Otop2	T	A	11: 115,220,393 (GRCm39)	M411K	probably benign	Het
Picalm	A	G	7: 89,856,793 (GRCm39)	I649M	probably benign	Het
Plekha8	T	C	6: 54,606,851 (GRCm39)	L382P	probably damaging	Het
Pspn	A	G	17: 57,306,853 (GRCm39)		probably benign	Het
Rps6kc1	A	T	1: 190,566,258 (GRCm39)	L329Q	probably damaging	Het
Srms	T	A	2: 180,854,290 (GRCm39)	R92S	possibly damaging	Het
Ssxb10	C	A	X: 8,201,845 (GRCm39)	S157*	probably null	Het
Tfap2c	T	C	2: 172,399,171 (GRCm39)	S448P	probably damaging	Het
Thsd7b	A	G	1: 129,843,352 (GRCm39)	N855D	probably benign	Het
Timeless	A	C	10: 128,085,629 (GRCm39)	D887A	possibly damaging	Het
Tyms	T	C	5: 30,266,997 (GRCm39)	Y169C	probably damaging	Het
Unc45b	T	A	11: 82,808,005 (GRCm39)	C207S	probably damaging	Het
Utp20	A	G	10: 88,611,147 (GRCm39)	F1390S	probably damaging	Het
Vmn2r53	A	T	7: 12,315,393 (GRCm39)		probably benign	Het
Zfp369	A	T	13: 65,428,095 (GRCm39)	D18V	probably damaging	Het

Other mutations in Rnf215

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01958:Rnf215	APN	11	4,090,317 (GRCm39)	missense	probably damaging	1.00
IGL01973:Rnf215	APN	11	4,086,615 (GRCm39)	missense	probably damaging	1.00
IGL02664:Rnf215	APN	11	4,090,307 (GRCm39)	missense	probably damaging	0.98
IGL02724:Rnf215	APN	11	4,090,305 (GRCm39)	missense	probably damaging	1.00
IGL02988:Rnf215	UTSW	11	4,086,785 (GRCm39)	missense	probably damaging	0.96
R0316:Rnf215	UTSW	11	4,089,760 (GRCm39)	missense	probably damaging	0.99
R0693:Rnf215	UTSW	11	4,090,401 (GRCm39)	critical splice donor site	probably null
R1297:Rnf215	UTSW	11	4,089,806 (GRCm39)	missense	possibly damaging	0.60
R1519:Rnf215	UTSW	11	4,085,451 (GRCm39)	missense	probably damaging	0.97
R1584:Rnf215	UTSW	11	4,086,719 (GRCm39)	missense	probably damaging	0.99
R1778:Rnf215	UTSW	11	4,085,873 (GRCm39)	nonsense	probably null
R5444:Rnf215	UTSW	11	4,085,843 (GRCm39)	missense	probably benign	0.36
R5623:Rnf215	UTSW	11	4,085,453 (GRCm39)	missense	probably benign	0.00
R5964:Rnf215	UTSW	11	4,085,898 (GRCm39)	missense	probably benign	0.01
R6823:Rnf215	UTSW	11	4,086,609 (GRCm39)	missense	probably damaging	1.00
R7346:Rnf215	UTSW	11	4,089,792 (GRCm39)	nonsense	probably null
R7635:Rnf215	UTSW	11	4,089,989 (GRCm39)	missense	probably damaging	1.00
R8210:Rnf215	UTSW	11	4,085,544 (GRCm39)	missense	possibly damaging	0.95
R8739:Rnf215	UTSW	11	4,085,959 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02