Mutagenetix > Incidental Mutations

Incidental Mutation 'R6296:Rnf214'

508770

Institutional Source

Beutler Lab

Gene Symbol

Rnf214

Ensembl Gene

ENSMUSG00000042790

Gene Name

ring finger protein 214

Synonyms

D130054N24Rik

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_178709.4; MGI:2444451

Is this an essential gene?

Probably essential (E-score: 0.824) question?

Stock #

R6296 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45863425-45906911 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45867821 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 389 (S389P)

Ref Sequence

ENSEMBL: ENSMUSP00000123995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034591] [ENSMUST00000058720] [ENSMUST00000160699] [ENSMUST00000161187] [ENSMUST00000161203] [ENSMUST00000162369] [ENSMUST00000162699] [ENSMUST00000213659]

AlphaFold

Q8BFU3

Predicted Effect

probably benign
Transcript: ENSMUST00000034591

SMART Domains

Protein: ENSMUSP00000034591
Gene: ENSMUSG00000032086

Domain	Start	End	E-Value	Type
low complexity region	27	45	N/A	INTRINSIC
Pfam:Asp	74	418	3.1e-46	PFAM
Pfam:TAXi_C	259	417	1.2e-13	PFAM
transmembrane domain	455	477	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058720
AA Change: S544P

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

SMART Domains

Protein: ENSMUSP00000060941
Gene: ENSMUSG00000042790
AA Change: S544P

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: S544P

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

SMART Domains

Protein: ENSMUSP00000123754
Gene: ENSMUSG00000042790
AA Change: S544P

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: S389P

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124296
Gene: ENSMUSG00000042790
AA Change: S389P

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: S389P

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123995
Gene: ENSMUSG00000042790
AA Change: S389P

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: S544P

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,683	D441G	probably benign	Het
4933427D14Rik	T	C	11: 72,195,754	K277R	probably damaging	Het
5730559C18Rik	C	T	1: 136,221,071		probably null	Het
Aatf	T	C	11: 84,473,100	Y267C	probably benign	Het
Adcy5	A	G	16: 35,303,710	Y1253C	probably damaging	Het
Adgra3	G	A	5: 49,960,847	P1120S	probably benign	Het
Adm	A	G	7: 110,628,354	T26A	probably benign	Het
Ahnak	T	G	19: 9,003,305	V651G	probably damaging	Het
Akr7a5	G	A	4: 139,318,221	V358I	probably benign	Het
Ankar	T	G	1: 72,643,258	T1383P	probably damaging	Het
Bpifb6	G	C	2: 153,906,892	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,598,723	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,652,714	T1249S	probably benign	Het
Cacna1h	G	A	17: 25,383,079	R1596C	probably damaging	Het
Cbll1	A	G	12: 31,487,508	V415A	probably benign	Het
Cd300lf	C	T	11: 115,124,369	V132I	probably benign	Het
Cfap54	T	C	10: 93,066,846	Y148C	probably damaging	Het
Coa5	A	G	1: 37,428,347	S60P	probably damaging	Het
Col6a2	T	C	10: 76,611,049	N342D	probably damaging	Het
Cyp2c29	T	G	19: 39,330,261	I434S	possibly damaging	Het
Ddx11	G	A	17: 66,150,729		probably null	Het
Dgke	C	T	11: 89,040,749	V560I	probably benign	Het
Dusp16	C	A	6: 134,720,493		probably null	Het
Enpp4	G	T	17: 44,102,480	N54K	probably benign	Het
Epn1	G	A	7: 5,090,123	A145T	probably damaging	Het
Erc2	A	T	14: 28,080,155	K764M	probably damaging	Het
Ercc6	G	T	14: 32,526,403	E304*	probably null	Het
Fam117a	T	A	11: 95,364,145	C115S	possibly damaging	Het
Galntl5	T	C	5: 25,186,165	S21P	probably benign	Het
Gm6358	T	C	16: 89,141,082	S70P	unknown	Het
Grip1	C	T	10: 120,075,464	Q696*	probably null	Het
Haus5	C	T	7: 30,658,976	W298*	probably null	Het
Hsfy2	T	A	1: 56,637,192	H62L	probably benign	Het
Ighm	T	C	12: 113,421,567	I258V	unknown	Het
Igkv13-71-1	G	T	6: 69,235,799		noncoding transcript	Het
Irx1	A	C	13: 71,959,668	S298R	probably damaging	Het
Jarid2	T	A	13: 44,903,063	Y443N	possibly damaging	Het
Kcnc1	G	A	7: 46,435,316	A555T	probably benign	Het
Krtap4-6	T	A	11: 99,665,419	R161*	probably null	Het
Lipo1	T	C	19: 33,780,337	D244G	probably benign	Het
Lmo2	T	G	2: 103,970,601	V39G	possibly damaging	Het
Lrch2	C	T	X: 147,480,557	A369T	probably damaging	Homo
Macf1	A	T	4: 123,432,875	I4943N	probably damaging	Het
Mkx	A	T	18: 7,000,591		probably null	Het
Nek1	C	T	8: 61,072,309	Q594*	probably null	Het
Nipbl	T	C	15: 8,300,895	M2349V	possibly damaging	Het
Nup155	T	A	15: 8,153,155	C1201S	probably damaging	Het
Olfr1249	G	A	2: 89,630,631	T89I	probably damaging	Het
Olfr1373	C	A	11: 52,144,596	R311S	probably benign	Het
Olfr209	T	C	16: 59,361,406	K271E	probably benign	Het
Osbpl1a	A	G	18: 12,819,503		probably null	Het
Pbx1	T	C	1: 168,183,615	D372G	possibly damaging	Het
Pikfyve	T	A	1: 65,262,953	S1668T	probably damaging	Het
Pitpnc1	T	C	11: 107,226,266	H193R	probably damaging	Het
Plag1	G	T	4: 3,904,499	H231N	probably damaging	Het
Prmt8	A	G	6: 127,711,804	I201T	probably damaging	Het
Ptpn23	A	T	9: 110,393,826	N54K	probably damaging	Het
Rab11fip4	T	C	11: 79,690,829		probably null	Het
Rassf9	T	A	10: 102,545,753	I332N	probably damaging	Het
Rgs9	T	C	11: 109,268,987	N173S	probably benign	Het
Rhbdl1	A	G	17: 25,834,969	L309P	probably damaging	Het
Rxfp1	A	C	3: 79,667,848	L181R	probably damaging	Het
Sfxn1	C	T	13: 54,093,880	T208I	probably benign	Het
Sgo2b	C	T	8: 63,927,793	M668I	probably benign	Het
Sh3bp4	C	A	1: 89,145,489	S686R	probably damaging	Het
Spata31d1d	G	A	13: 59,728,464	T419I	possibly damaging	Het
Spink5	T	C	18: 44,014,757	S857P	probably damaging	Het
Stard13	A	T	5: 151,062,673	S339R	probably damaging	Het
Stk35	T	A	2: 129,810,888	Y436*	probably null	Het
Supt6	C	T	11: 78,226,059	R589Q	possibly damaging	Het
Tinag	T	A	9: 76,996,935	E402V	possibly damaging	Het
Tmem183a	T	C	1: 134,361,611	D27G	probably damaging	Het
Tnfrsf13c	T	C	15: 82,223,902	T56A	probably damaging	Het
Tnrc18	A	C	5: 142,733,576	L1985R	unknown	Het
Ttn	G	A	2: 76,749,329	T23740M	probably damaging	Het
Ufl1	G	T	4: 25,270,572	Q215K	probably benign	Het
Unkl	T	C	17: 25,231,865	*232R	probably null	Het
Wnk4	A	T	11: 101,273,998	N718Y	probably damaging	Het
Xkr4	T	C	1: 3,216,570	T466A	probably benign	Het
Zfp451	T	A	1: 33,769,817	K988*	probably null	Het
Zfp503	G	C	14: 21,985,800	Y349*	probably null	Het
Zfp990	T	A	4: 145,538,103	F557Y	possibly 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
IGL02739:Rnf214	APN	9	45869474	missense	probably benign
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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCCCTGAGAACAAACAATG -3'
(R):5'- CTATGGTTATGCCCAGTGCG -3'

Sequencing Primer
(F):5'- GTTGAGGGAATAAAGTCAGTTCTCC -3'
(R):5'- TTATGCCCAGTGCGGATCC -3'

Posted On

2018-04-02