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

0610009J22Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

4085202-4091172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4090317 bp (GRCm39)

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: 95,629,659 (GRCm39)	I29T	probably damaging	Het
Agps	G	A	2: 75,740,045 (GRCm39)		probably null	Het
Agxt2	A	G	15: 10,393,794 (GRCm39)		probably null	Het
Ahnak	T	C	19: 8,992,273 (GRCm39)	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,852,853 (GRCm39)	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,806,125 (GRCm39)	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904 (GRCm39)	E674G	possibly damaging	Het
Atat1	T	A	17: 36,219,735 (GRCm39)		probably benign	Het
Ccar1	G	A	10: 62,626,714 (GRCm39)	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,321,001 (GRCm39)	D14G	probably damaging	Het
Cdh15	T	C	8: 123,586,089 (GRCm39)	F156S	probably damaging	Het
Dctn1	A	G	6: 83,168,326 (GRCm39)	T525A	possibly damaging	Het
Dnah8	T	G	17: 31,074,869 (GRCm39)		probably benign	Het
Dnajc10	T	A	2: 80,151,648 (GRCm39)		probably benign	Het
Dtl	C	A	1: 191,300,489 (GRCm39)	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,954 (GRCm39)	T149I	probably damaging	Het
Fgd6	A	G	10: 93,974,170 (GRCm39)	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,766 (GRCm39)		noncoding transcript	Het
Gnai1	A	G	5: 18,478,568 (GRCm39)	F199S	probably damaging	Het
Grb7	T	A	11: 98,345,480 (GRCm39)	V480D	probably damaging	Het
Hdc	A	G	2: 126,436,452 (GRCm39)	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,479,622 (GRCm39)	N4614S	probably benign	Het
Il20ra	A	G	10: 19,634,791 (GRCm39)	D344G	probably benign	Het
Ints1	C	T	5: 139,745,843 (GRCm39)	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,465,562 (GRCm39)		probably benign	Het
Kat14	T	C	2: 144,236,285 (GRCm39)	L339P	probably damaging	Het
Klhl22	A	G	16: 17,594,326 (GRCm39)	I152V	probably benign	Het
Krtap5-2	C	A	7: 141,729,459 (GRCm39)	G74*	probably null	Het
Lrrc59	C	A	11: 94,529,354 (GRCm39)		probably null	Het
Map3k13	A	G	16: 21,710,873 (GRCm39)	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,646,495 (GRCm39)		probably benign	Het
Mphosph9	A	T	5: 124,463,053 (GRCm39)		probably benign	Het
Myrf	A	G	19: 10,187,742 (GRCm39)		probably benign	Het
Nek11	T	C	9: 105,177,502 (GRCm39)	T250A	probably benign	Het
Nek5	A	T	8: 22,586,842 (GRCm39)	V323E	probably benign	Het
Nfasc	A	T	1: 132,536,176 (GRCm39)	C586*	probably null	Het
Nup210l	T	A	3: 90,111,231 (GRCm39)	L1711Q	possibly damaging	Het
Parp8	T	G	13: 117,013,108 (GRCm39)	K644Q	probably benign	Het
Pcnt	G	T	10: 76,269,513 (GRCm39)	Q252K	probably damaging	Het
Pianp	A	G	6: 124,977,646 (GRCm39)	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,799,298 (GRCm39)	V2839A	probably damaging	Het
Poli	C	T	18: 70,659,657 (GRCm39)	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,890,353 (GRCm39)	D447G	probably benign	Het
Rapgef5	A	G	12: 117,694,386 (GRCm39)	I637V	probably benign	Het
Rasip1	A	T	7: 45,286,188 (GRCm39)	R804*	probably null	Het
Relt	A	G	7: 100,500,350 (GRCm39)	V113A	probably benign	Het
Scart2	T	C	7: 139,854,040 (GRCm39)	C348R	probably damaging	Het
Scn2a	A	G	2: 65,532,173 (GRCm39)	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,307,316 (GRCm39)	V183M	probably damaging	Het
Snapc4	T	C	2: 26,256,452 (GRCm39)		probably benign	Het
Sparcl1	A	T	5: 104,240,406 (GRCm39)	D339E	probably benign	Het
Tg	T	C	15: 66,631,335 (GRCm39)	F535L	probably benign	Het
Zbtb45	C	A	7: 12,740,203 (GRCm39)	A471S	probably benign	Het
Zfp106	T	A	2: 120,365,288 (GRCm39)	K373M	probably benign	Het

Other mutations in Rnf215

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-05-07