Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02739:Rnf214'

305794

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf214

Ensembl Gene

ENSMUSG00000042790

Gene Name

ring finger protein 214

Synonyms

D130054N24Rik

Accession Numbers

Ncbi RefSeq: NM_178709.4; MGI:2444451

Is this an essential gene?

Probably essential (E-score: 0.815) question?

Stock #

IGL02739

Quality Score

Status

Chromosome

Chromosomal Location

45863425-45906911 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45869474 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 406 (I406V)

Ref Sequence

ENSEMBL: ENSMUSP00000149889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058720] [ENSMUST00000160699] [ENSMUST00000161187] [ENSMUST00000161203] [ENSMUST00000162369] [ENSMUST00000162699] [ENSMUST00000213659]

AlphaFold

Q8BFU3

Predicted Effect

probably benign
Transcript: ENSMUST00000058720
AA Change: I406V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
AA Change: I406V

Domain	Start	End	E-Value	Type
low complexity region	187	196	N/A	INTRINSIC
SCOP:d1eq1a_	235	382	3e-5	SMART
low complexity region	428	444	N/A	INTRINSIC
low complexity region	493	504	N/A	INTRINSIC
low complexity region	522	539	N/A	INTRINSIC
RING	620	664	3.42e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000100407

Predicted Effect

probably benign
Transcript: ENSMUST00000160699
AA Change: I406V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
AA Change: I406V

Domain	Start	End	E-Value	Type
low complexity region	187	196	N/A	INTRINSIC
SCOP:d1eq1a_	235	382	3e-5	SMART
low complexity region	428	444	N/A	INTRINSIC
low complexity region	493	504	N/A	INTRINSIC
low complexity region	522	539	N/A	INTRINSIC
RING	620	664	3.42e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160868

Predicted Effect

probably benign
Transcript: ENSMUST00000161187
AA Change: I251V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790
AA Change: I251V

Domain	Start	End	E-Value	Type
coiled coil region	65	224	N/A	INTRINSIC
low complexity region	273	289	N/A	INTRINSIC
low complexity region	338	349	N/A	INTRINSIC
low complexity region	367	384	N/A	INTRINSIC
RING	465	509	3.42e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161203
AA Change: I251V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790
AA Change: I251V

Domain	Start	End	E-Value	Type
SCOP:d1eq1a_	80	227	2e-5	SMART
low complexity region	273	289	N/A	INTRINSIC
low complexity region	338	349	N/A	INTRINSIC
low complexity region	367	384	N/A	INTRINSIC
RING	500	544	3.42e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162369
AA Change: I406V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000162699

Predicted Effect

probably benign
Transcript: ENSMUST00000213659

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(12) : Targeted(3) Gene trapped(9)

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,878,517	C887S	possibly damaging	Het
Adamdec1	C	A	14: 68,570,156	E352*	probably null	Het
Bglap2	A	T	3: 88,378,012		probably null	Het
Bsn	A	T	9: 108,112,546	H2002Q	probably benign	Het
Chtop	T	A	3: 90,502,250	Q165L	possibly damaging	Het
Clcn1	A	T	6: 42,286,780		probably null	Het
Ctsr	T	C	13: 61,161,844	T184A	probably benign	Het
Defb36	T	C	2: 152,604,519	L11P	unknown	Het
Dock8	A	G	19: 25,188,488	E1912G	probably damaging	Het
Dpp3	A	G	19: 4,923,728	Y106H	probably damaging	Het
Epas1	A	G	17: 86,805,282	T103A	probably damaging	Het
Epcam	A	T	17: 87,640,494	T131S	probably benign	Het
Fam169a	A	G	13: 97,094,055		probably benign	Het
Gh	T	A	11: 106,301,733		probably benign	Het
Kif20a	A	T	18: 34,628,943	K399*	probably null	Het
Lrp1b	A	G	2: 41,498,215	I466T	probably damaging	Het
Nlk	A	G	11: 78,574,851	V409A	probably benign	Het
Nomo1	A	G	7: 46,044,307		probably null	Het
Nr2c1	T	A	10: 94,156,972	M16K	probably damaging	Het
Nxph2	A	T	2: 23,399,900	Q88L	probably benign	Het
Olfr33	A	G	7: 102,714,314	I33T	possibly damaging	Het
Pkdrej	T	A	15: 85,819,694	R680S	probably benign	Het
Pkhd1l1	A	T	15: 44,540,950	N2325I	probably benign	Het
Pnliprp2	T	C	19: 58,760,509		probably null	Het
Ppp1r42	T	A	1: 9,968,853	K347N	probably benign	Het
Prtg	T	C	9: 72,851,585	V407A	possibly damaging	Het
Psmb8	C	A	17: 34,200,754	S194*	probably null	Het
Rreb1	C	T	13: 37,893,821	S3L	probably damaging	Het
Sdad1	C	T	5: 92,290,072	A539T	probably benign	Het
Sema3a	A	G	5: 13,451,161	Y57C	probably damaging	Het
Susd5	A	G	9: 114,096,033	E328G	possibly damaging	Het
Syngr3	T	C	17: 24,686,398	T175A	probably damaging	Het
Tcf20	T	A	15: 82,856,080	Q390L	probably damaging	Het
Tex15	A	G	8: 33,581,693	T2423A	possibly damaging	Het
Tlr1	T	C	5: 64,927,126	N36S	probably benign	Het
Uchl4	C	T	9: 64,235,537	T100M	probably damaging	Het
Uhrf1	A	G	17: 56,305,129	K11R	probably benign	Het
Vps13b	T	A	15: 35,879,900	D3040E	probably damaging	Het
Wdr62	A	T	7: 30,242,460	Y640*	probably null	Het
Zkscan17	T	G	11: 59,503,526	E83A	probably damaging	Het

Other mutations in Rnf214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01662:Rnf214	APN	9	45899786	missense	probably damaging	1.00
IGL02314:Rnf214	APN	9	45899807	missense	probably benign	0.00
IGL02604:Rnf214	APN	9	45869543	missense	probably damaging	1.00
Contorted	UTSW	9	45868046	nonsense	probably null
R0067:Rnf214	UTSW	9	45867498	critical splice donor site	probably null
R0067:Rnf214	UTSW	9	45867498	critical splice donor site	probably null
R0091:Rnf214	UTSW	9	45898493	critical splice acceptor site	probably null
R0375:Rnf214	UTSW	9	45899823	missense	probably damaging	0.97
R1027:Rnf214	UTSW	9	45899889	missense	probably benign
R1850:Rnf214	UTSW	9	45869448	splice site	probably benign
R2424:Rnf214	UTSW	9	45899798	missense	probably damaging	0.99
R3751:Rnf214	UTSW	9	45867603	missense	probably damaging	1.00
R3772:Rnf214	UTSW	9	45866634	missense	possibly damaging	0.83
R4164:Rnf214	UTSW	9	45871912	missense	probably damaging	0.99
R4969:Rnf214	UTSW	9	45896188	missense	probably damaging	1.00
R5032:Rnf214	UTSW	9	45899744	critical splice donor site	probably null
R5647:Rnf214	UTSW	9	45868046	nonsense	probably null
R5849:Rnf214	UTSW	9	45868088	missense	probably damaging	1.00
R5894:Rnf214	UTSW	9	45866618	missense	probably damaging	1.00
R6296:Rnf214	UTSW	9	45867821	missense	probably benign	0.05
R6467:Rnf214	UTSW	9	45867588	missense	probably damaging	0.97
R6533:Rnf214	UTSW	9	45900063	missense	probably benign	0.00
R6621:Rnf214	UTSW	9	45896170	missense	probably damaging	1.00
R6801:Rnf214	UTSW	9	45896105	missense	probably damaging	1.00
R6940:Rnf214	UTSW	9	45890898	missense	probably damaging	0.99
R7398:Rnf214	UTSW	9	45867547	missense	possibly damaging	0.85
R8554:Rnf214	UTSW	9	45867499	critical splice donor site	probably null
R8710:Rnf214	UTSW	9	45867450	unclassified	probably benign
R8962:Rnf214	UTSW	9	45898430	critical splice donor site	probably null
R9060:Rnf214	UTSW	9	45898474	utr 3 prime	probably benign
R9093:Rnf214	UTSW	9	45899756	missense	probably damaging	0.99
R9215:Rnf214	UTSW	9	45904831	missense	probably benign	0.12
R9456:Rnf214	UTSW	9	45867988	missense	possibly damaging	0.79
R9563:Rnf214	UTSW	9	45899843	missense	possibly damaging	0.81

Posted On

2015-04-16