Mutagenetix > Incidental Mutation

Incidental Mutation 'R0311:Rnf207'

25180

Institutional Source

Beutler Lab

Gene Symbol

Rnf207

Ensembl Gene

ENSMUSG00000058498

Gene Name

ring finger protein 207

Synonyms

MMRRC Submission

038521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R0311 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152307019-152318993 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152315779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 175 (C175R)

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: C175R

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

SMART Domains

Protein: ENSMUSP00000075540
Gene: ENSMUSG00000058498
AA Change: C175R

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: 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: C175R

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

SMART Domains

Protein: ENSMUSP00000129400
Gene: ENSMUSG00000058498
AA Change: C175R

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

Meta Mutation Damage Score

0.9404

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.6%
20x: 91.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	C	7: 120,402,904	M1547L	probably damaging	Het
Abcb4	A	G	5: 8,934,243	K658E	probably benign	Het
Abr	A	G	11: 76,509,127	S15P	possibly damaging	Het
Adgrb2	G	C	4: 130,017,129	A1168P	probably damaging	Het
Adgre4	A	T	17: 55,802,010	E339V	probably benign	Het
Asprv1	T	C	6: 86,628,840	W223R	probably damaging	Het
Ccdc89	A	G	7: 90,426,693	E37G	probably damaging	Het
Cd48	C	A	1: 171,699,580	Y191*	probably null	Het
Chd4	T	C	6: 125,101,665	I257T	probably benign	Het
Clca4b	T	C	3: 144,932,496	M2V	probably benign	Het
Dnah11	A	T	12: 118,127,133	D1025E	probably benign	Het
Erich5	A	G	15: 34,472,939	*363W	probably null	Het
Etl4	A	G	2: 20,807,129	D1341G	probably damaging	Het
Fbxw11	A	G	11: 32,722,083	T184A	probably benign	Het
Fktn	A	G	4: 53,744,620	Q300R	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gdpd3	G	A	7: 126,767,189	R66Q	possibly damaging	Het
Hexb	A	G	13: 97,183,819		probably benign	Het
Kdm4b	A	G	17: 56,386,200	R346G	probably benign	Het
Mbtd1	T	A	11: 93,921,357		probably null	Het
Med23	T	A	10: 24,897,358	C653S	possibly damaging	Het
Nwd2	A	T	5: 63,804,998	I642L	probably damaging	Het
Olfr1444	A	G	19: 12,861,869	I31M	probably benign	Het
Olfr1448	T	A	19: 12,920,096	Y71F	possibly damaging	Het
Olfr912	T	C	9: 38,539,297	V134A	probably benign	Het
Pbld2	T	C	10: 63,054,507		probably null	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pkd1l3	G	A	8: 109,623,663	S380N	probably benign	Het
Plpp2	C	T	10: 79,527,580	R77K	probably damaging	Het
Pym1	G	T	10: 128,765,984	R168L	possibly damaging	Het
Rbm4	T	C	19: 4,787,556	Y300C	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Speg	T	C	1: 75,430,937	V3196A	probably damaging	Het
Syne1	T	A	10: 5,348,943	I1048L	possibly damaging	Het
Th	T	C	7: 142,896,041	E41G	probably damaging	Het
Tmx4	T	A	2: 134,598,526	*336L	probably null	Het
Tnfrsf18	T	C	4: 156,026,415	V10A	possibly damaging	Het
Tnxb	A	T	17: 34,716,984	I2670F	probably damaging	Het
Tpx2	T	C	2: 152,890,492	V562A	probably damaging	Het
Vmn2r73	A	G	7: 85,871,789	S324P	probably benign	Het
Vps18	T	C	2: 119,297,365	Y890H	probably benign	Het
Ythdc1	G	A	5: 86,835,705	D670N	probably damaging	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
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
R5268:Rnf207	UTSW	4	152313889	missense	probably damaging	1.00
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
R9609:Rnf207	UTSW	4	152317765	missense	probably damaging	0.99
R9666:Rnf207	UTSW	4	152313260	missense	probably damaging	1.00
R9758:Rnf207	UTSW	4	152313209	missense	probably benign	0.06
R9766:Rnf207	UTSW	4	152315945	missense	probably damaging	1.00
X0026:Rnf207	UTSW	4	152316042	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGAACAGCAGGATCTCAACTC -3'
(R):5'- GCGACGTGATCCAGAAGTGTAGTG -3'

Sequencing Primer
(F):5'- GGGTTCTCACAACTCCCAC -3'
(R):5'- GTGTAGTGAGTGAGGCATACC -3'

Posted On

2013-04-16