Mutagenetix > Incidental Mutation

Incidental Mutation 'R5268:Rnf207'

399900

Institutional Source

Beutler Lab

Gene Symbol

Rnf207

Ensembl Gene

ENSMUSG00000058498

Gene Name

ring finger protein 207

Synonyms

MMRRC Submission

042860-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R5268 (G1)

Quality Score

193

Status

Not validated

Chromosome

Chromosomal Location

152307019-152318993 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152313889 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 276 (D276G)

Ref Sequence

ENSEMBL: ENSMUSP00000129400 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076183] [ENSMUST00000130008] [ENSMUST00000170820]

AlphaFold

Q3V3A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000076183
AA Change: D311G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075540
Gene: ENSMUSG00000058498
AA Change: D311G

Domain	Start	End	E-Value	Type
RING	25	63	1.16e-5	SMART
Pfam:zf-B_box	93	145	3.6e-11	PFAM
Pfam:DUF3583	204	378	1.2e-10	PFAM
coiled coil region	422	461	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127565

Predicted Effect

probably benign
Transcript: ENSMUST00000130008

SMART Domains

Protein: ENSMUSP00000127196
Gene: ENSMUSG00000058498

Domain	Start	End	E-Value	Type
RING	25	63	5.6e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146496

Predicted Effect

probably damaging
Transcript: ENSMUST00000170820
AA Change: D276G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129400
Gene: ENSMUSG00000058498
AA Change: D276G

Domain	Start	End	E-Value	Type
RING	25	63	1.16e-5	SMART
Pfam:zf-B_box	93	145	1e-11	PFAM
low complexity region	236	242	N/A	INTRINSIC
low complexity region	315	326	N/A	INTRINSIC
coiled coil region	387	426	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810032O08Rik	G	T	11: 116,671,756	M18I	probably benign	Het
Adamtsl4	C	A	3: 95,680,163	R701L	probably damaging	Het
Adgrf5	T	C	17: 43,450,999	V1195A	probably damaging	Het
Agpat5	A	G	8: 18,881,862	T333A	possibly damaging	Het
Aspm	G	T	1: 139,464,295	G795C	probably damaging	Het
Car4	C	A	11: 84,965,800	Q305K	probably benign	Het
Catsperg1	T	C	7: 29,195,247	N612S	probably benign	Het
Cdc5l	G	A	17: 45,415,585	R354W	probably damaging	Het
Cdh9	G	A	15: 16,851,013	V623I	probably benign	Het
Cfap65	A	G	1: 74,924,902	V629A	probably benign	Het
Chd1	G	A	17: 15,735,743	V535I	probably damaging	Het
Col12a1	A	G	9: 79,678,047	V1316A	probably damaging	Het
Col6a3	A	T	1: 90,785,243	D1721E	unknown	Het
Cop1	T	A	1: 159,327,164	F647L	probably damaging	Het
Corin	A	C	5: 72,343,019	S421A	probably damaging	Het
Crb2	T	C	2: 37,790,821	V587A	probably damaging	Het
Ctc1	T	A	11: 69,029,810	V646E	possibly damaging	Het
Cyp2a12	A	T	7: 27,031,218	M203L	probably benign	Het
Dcdc2c	T	A	12: 28,516,657	K336M	possibly damaging	Het
Ddx39	G	A	8: 83,722,321	R275H	probably benign	Het
Des	A	G	1: 75,362,928	N310S	possibly damaging	Het
Dlk1	C	A	12: 109,459,838	S212R	probably benign	Het
Dnajc5b	A	G	3: 19,579,060	E149G	probably benign	Het
Dpep1	A	T	8: 123,194,089	I3F	probably benign	Het
Eml6	T	A	11: 29,803,108	R934S	probably benign	Het
Ercc6l2	T	C	13: 63,869,111	L676P	possibly damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Frem2	T	A	3: 53,653,154	I1311F	probably damaging	Het
Gldc	T	A	19: 30,145,725	M257L	probably damaging	Het
Gm5538	A	G	3: 59,752,023	E299G	probably damaging	Het
Gm8674	T	G	13: 49,901,354		noncoding transcript	Het
Gnai3	C	T	3: 108,123,541		probably null	Het
Gtf3a	A	G	5: 146,955,155	D300G	probably damaging	Het
Haus3	A	T	5: 34,166,105	V387D	probably damaging	Het
Hpf1	T	A	8: 60,893,734	F28I	possibly damaging	Het
Iars	A	G	13: 49,690,491	D147G	probably damaging	Het
Ibtk	A	T	9: 85,743,690	D2E	probably benign	Het
Ift140	T	A	17: 25,020,627	I86K	possibly damaging	Het
Igf2bp2	T	A	16: 22,079,491	I235F	probably damaging	Het
Ighv3-8	G	T	12: 114,322,632	A30E	probably benign	Het
Kcnq5	T	A	1: 21,505,725	T252S	probably damaging	Het
Lrrc4b	A	T	7: 44,461,363	N220Y	probably damaging	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mamdc4	T	C	2: 25,564,690	T1037A	possibly damaging	Het
Mbd5	A	T	2: 49,272,094	I863F	possibly damaging	Het
Muc4	T	A	16: 32,751,666	S515T	possibly damaging	Het
Mylk4	T	A	13: 32,708,881		probably null	Het
Neu4	G	A	1: 94,024,947	R346H	probably benign	Het
Nxpe5	T	A	5: 138,239,938	Y253*	probably null	Het
Olfml2b	A	T	1: 170,649,761	E155V	probably damaging	Het
Olfr160	T	A	9: 37,712,004	I92F	probably damaging	Het
Olfr2	T	A	7: 107,000,904	N319Y	probably benign	Het
Olfr304	A	G	7: 86,385,659	*334Q	probably null	Het
Pamr1	G	A	2: 102,586,684	A114T	probably damaging	Het
Pdzd2	T	A	15: 12,592,177	N127I	probably damaging	Het
Pglyrp4	C	T	3: 90,726,964	L5F	probably damaging	Het
Plce1	T	A	19: 38,758,835	S1667T	possibly damaging	Het
Qser1	A	T	2: 104,787,431	V1012E	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rcn3	A	T	7: 45,086,779	D168E	probably damaging	Het
Rdh1	T	G	10: 127,759,963	V9G	possibly damaging	Het
Rin2	A	G	2: 145,844,760	T70A	probably benign	Het
Rtel1	C	T	2: 181,340,561	S368L	probably benign	Het
Slc15a5	C	A	6: 138,079,753	C55F	probably damaging	Het
Slc36a4	T	C	9: 15,726,916	F213L	possibly damaging	Het
Spata25	C	T	2: 164,828,034	G19D	probably damaging	Het
St5	A	G	7: 109,557,312	L77P	probably benign	Het
Tas2r102	A	T	6: 132,762,397	L89F	probably damaging	Het
Tbc1d1	A	G	5: 64,324,567	K704E	probably damaging	Het
Tert	T	G	13: 73,627,354	S75A	probably damaging	Het
Tiparp	T	A	3: 65,547,565	L195Q	possibly damaging	Het
Tmem205	A	C	9: 21,926,084	Y57*	probably null	Het
Tomm22	A	G	15: 79,671,227	R5G	probably benign	Het
Trav10	A	T	14: 53,506,058	S39C	probably benign	Het
Trav6-2	T	A	14: 52,667,748	N75K	probably benign	Het
Trio	T	C	15: 27,748,286	S2427G	probably benign	Het
Ttc41	C	A	10: 86,744,478	H763N	possibly damaging	Het
Usp29	A	T	7: 6,961,584	N142I	probably damaging	Het
Vmn1r204	G	T	13: 22,556,742	W181L	probably damaging	Het
Vmn2r76	G	A	7: 86,226,059	T570M	probably damaging	Het
Wdr90	A	G	17: 25,850,845	L1173P	probably damaging	Het
Wnt9a	T	A	11: 59,328,570	C141S	probably damaging	Het
Zfp462	A	T	4: 55,012,299	I1422L	probably benign	Het

Other mutations in Rnf207

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01643:Rnf207	APN	4	152318261	splice site	probably benign
IGL02325:Rnf207	APN	4	152311780	missense	probably damaging	0.97
IGL02451:Rnf207	APN	4	152312412	missense	probably benign	0.25
felonius	UTSW	4	152311780	missense	probably damaging	0.98
perjury	UTSW	4	152313215	missense	probably benign	0.00
R0311:Rnf207	UTSW	4	152315779	missense	probably damaging	1.00
R0462:Rnf207	UTSW	4	152313372	missense	possibly damaging	0.78
R0671:Rnf207	UTSW	4	152307468	missense	probably benign	0.00
R0845:Rnf207	UTSW	4	152312064	splice site	probably benign
R1544:Rnf207	UTSW	4	152313871	splice site	probably benign
R1667:Rnf207	UTSW	4	152313215	missense	probably benign	0.00
R4052:Rnf207	UTSW	4	152311437	missense	probably benign	0.41
R4335:Rnf207	UTSW	4	152315605	splice site	probably benign
R4649:Rnf207	UTSW	4	152312155	missense	probably benign	0.06
R5033:Rnf207	UTSW	4	152313209	missense	probably benign	0.00
R5603:Rnf207	UTSW	4	152312394	missense	probably damaging	1.00
R5938:Rnf207	UTSW	4	152317928	intron	probably benign
R6147:Rnf207	UTSW	4	152315655	missense	probably damaging	1.00
R6181:Rnf207	UTSW	4	152308848	missense	probably benign	0.00
R6866:Rnf207	UTSW	4	152312532	missense	possibly damaging	0.81
R7166:Rnf207	UTSW	4	152311780	missense	probably damaging	0.98
R7177:Rnf207	UTSW	4	152312177	missense	probably benign	0.43
R7354:Rnf207	UTSW	4	152314091	missense	probably damaging	0.96
R7893:Rnf207	UTSW	4	152311438	missense	probably damaging	0.99
R8200:Rnf207	UTSW	4	152314035	critical splice donor site	probably null
R8789:Rnf207	UTSW	4	152307467	missense	probably benign	0.04
R9520:Rnf207	UTSW	4	152311777	missense	probably damaging	1.00
X0026:Rnf207	UTSW	4	152316042	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGCTTATTATGCTCACTGCC -3'
(R):5'- CTTCAAGGAACAGCTGACCC -3'

Sequencing Primer
(F):5'- GATTCACCTGGTCTGAAAAAGGCTC -3'
(R):5'- GGAACAGCTGACCCACCTG -3'

Posted On

2016-07-06