Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02664:Rnf215'

302657

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: 0.075) question?

Stock #

IGL02664

Quality Score

Status

Chromosome

Chromosomal Location

4085202-4091172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4090307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 342 (V342L)

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: V342L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003677
Gene: ENSMUSG00000003581
AA Change: V342L

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	A	T	5: 36,006,860 (GRCm39)	D425V	probably damaging	Het
Afdn	G	T	17: 14,072,728 (GRCm39)		probably benign	Het
Afg2a	A	G	3: 37,490,814 (GRCm39)	D453G	probably damaging	Het
Ap2a2	C	T	7: 141,209,136 (GRCm39)	T776I	probably benign	Het
Apcdd1	T	C	18: 63,084,891 (GRCm39)		probably benign	Het
Bdp1	A	T	13: 100,188,047 (GRCm39)	Y1513N	probably benign	Het
Btaf1	T	C	19: 36,955,828 (GRCm39)		probably benign	Het
C2cd3	A	T	7: 100,068,922 (GRCm39)	M917L	possibly damaging	Het
Cmtm6	T	C	9: 114,575,613 (GRCm39)	V174A	probably benign	Het
Cyp2d12	T	A	15: 82,443,535 (GRCm39)	I448K	probably benign	Het
Ddb1	A	G	19: 10,585,247 (GRCm39)	I101V	probably benign	Het
Dicer1	A	G	12: 104,671,388 (GRCm39)	Y961H	probably damaging	Het
Dnaaf1	T	G	8: 120,309,260 (GRCm39)	I116S	probably damaging	Het
Ecscr	T	A	18: 35,854,451 (GRCm39)	I5F	possibly damaging	Het
Eftud2	T	C	11: 102,732,538 (GRCm39)	E691G	probably damaging	Het
Fat2	A	G	11: 55,201,922 (GRCm39)	V384A	probably damaging	Het
Ftcd	T	C	10: 76,420,439 (GRCm39)	M391T	probably damaging	Het
Gab2	T	G	7: 96,953,389 (GRCm39)	S587R	probably damaging	Het
Gm18856	G	A	13: 14,139,809 (GRCm39)		probably benign	Het
Herc2	A	T	7: 55,785,426 (GRCm39)	R1559*	probably null	Het
Inpp5f	G	A	7: 128,265,738 (GRCm39)	R161H	probably damaging	Het
Iws1	A	T	18: 32,203,217 (GRCm39)	D31V	possibly damaging	Het
Klhl2	A	T	8: 65,205,801 (GRCm39)	Y373*	probably null	Het
Lce6a	A	T	3: 92,527,607 (GRCm39)	C67S	possibly damaging	Het
Lrba	A	G	3: 86,233,038 (GRCm39)	I800V	possibly damaging	Het
Mis18bp1	A	C	12: 65,200,654 (GRCm39)	Y407*	probably null	Het
Mllt3	A	C	4: 87,949,860 (GRCm39)	W29G	probably damaging	Het
Mon2	A	G	10: 122,845,401 (GRCm39)		probably benign	Het
Mtbp	C	T	15: 55,483,039 (GRCm39)	T372M	probably benign	Het
Nefm	A	T	14: 68,357,664 (GRCm39)		probably benign	Het
Nf1	A	T	11: 79,335,424 (GRCm39)		probably null	Het
Nf1	G	A	11: 79,335,425 (GRCm39)		probably null	Het
Ntn1	T	A	11: 68,276,295 (GRCm39)	I218F	probably benign	Het
Numa1	T	G	7: 101,648,109 (GRCm39)	S613R	possibly damaging	Het
Or14a259	C	T	7: 86,012,811 (GRCm39)	V245I	possibly damaging	Het
Pcsk5	A	T	19: 17,434,134 (GRCm39)	D1411E	probably damaging	Het
Prl2b1	G	T	13: 27,569,225 (GRCm39)	N124K	possibly damaging	Het
Rab15	T	C	12: 76,851,225 (GRCm39)	I30M	possibly damaging	Het
Saxo4	A	T	19: 10,459,655 (GRCm39)	S17R	probably damaging	Het
Togaram2	T	A	17: 72,036,234 (GRCm39)	I908N	probably damaging	Het
Trim54	A	G	5: 31,293,391 (GRCm39)	N205S	probably damaging	Het
Ttn	G	A	2: 76,697,795 (GRCm39)	T80I	possibly damaging	Het
Vmn2r106	G	A	17: 20,488,344 (GRCm39)	T685I	possibly damaging	Het
Vwa5b2	T	C	16: 20,414,063 (GRCm39)		probably benign	Het
Zfat	A	T	15: 68,052,570 (GRCm39)	I401N	probably damaging	Het
Zfp40	G	A	17: 23,395,960 (GRCm39)	S209F	probably benign	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
IGL02724:Rnf215	APN	11	4,090,305 (GRCm39)	missense	probably damaging	1.00
IGL02986:Rnf215	APN	11	4,089,793 (GRCm39)	missense	probably damaging	0.99
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

2015-04-16