Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Rnf215'

181466

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf215

Ensembl Gene

ENSMUSG00000003581

Gene Name

ring finger protein 215

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

4135202-4141172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4140317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 345 (C345F)

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: C345F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003677
Gene: ENSMUSG00000003581
AA Change: C345F

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	Het

Other mutations in Rnf215

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01973:Rnf215	APN	11	4136615	missense	probably damaging	1.00
IGL02664:Rnf215	APN	11	4140307	missense	probably damaging	0.98
IGL02724:Rnf215	APN	11	4140305	missense	probably damaging	1.00
IGL02986:Rnf215	APN	11	4139793	missense	probably damaging	0.99
IGL02988:Rnf215	UTSW	11	4136785	missense	probably damaging	0.96
R0316:Rnf215	UTSW	11	4139760	missense	probably damaging	0.99
R0693:Rnf215	UTSW	11	4140401	critical splice donor site	probably null
R1297:Rnf215	UTSW	11	4139806	missense	possibly damaging	0.60
R1519:Rnf215	UTSW	11	4135451	missense	probably damaging	0.97
R1584:Rnf215	UTSW	11	4136719	missense	probably damaging	0.99
R1778:Rnf215	UTSW	11	4135873	nonsense	probably null
R5444:Rnf215	UTSW	11	4135843	missense	probably benign	0.36
R5623:Rnf215	UTSW	11	4135453	missense	probably benign	0.00
R5964:Rnf215	UTSW	11	4135898	missense	probably benign	0.01
R6823:Rnf215	UTSW	11	4136609	missense	probably damaging	1.00
R7346:Rnf215	UTSW	11	4139792	nonsense	probably null
R7635:Rnf215	UTSW	11	4139989	missense	probably damaging	1.00
R8210:Rnf215	UTSW	11	4135544	missense	possibly damaging	0.95
R8739:Rnf215	UTSW	11	4135959	critical splice donor site	probably null

Posted On

2014-05-07