Mutagenetix > Incidental Mutation

Incidental Mutation 'R6031:Rnf208'

486247

Institutional Source

Beutler Lab

Gene Symbol

Rnf208

Ensembl Gene

ENSMUSG00000044628

Gene Name

ring finger protein 208

Synonyms

1110061N23Rik

MMRRC Submission

044203-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R6031 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25132941-25134273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 25133776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 157 (T157P)

Ref Sequence

ENSEMBL: ENSMUSP00000109995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043379] [ENSMUST00000060818] [ENSMUST00000100329] [ENSMUST00000114349] [ENSMUST00000114355] [ENSMUST00000114356] [ENSMUST00000148589] [ENSMUST00000154498] [ENSMUST00000228052] [ENSMUST00000228627] [ENSMUST00000186719]

AlphaFold

Q8K0W3

Predicted Effect

probably benign
Transcript: ENSMUST00000043379

SMART Domains

Protein: ENSMUSP00000045363
Gene: ENSMUSG00000036731

Domain	Start	End	E-Value	Type
Pfam:DUF2477	1	141	2.2e-92	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000060818
AA Change: T157P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057742
Gene: ENSMUSG00000044628
AA Change: T157P

Domain	Start	End	E-Value	Type
low complexity region	45	63	N/A	INTRINSIC
low complexity region	126	138	N/A	INTRINSIC
RING	147	193	1.11e-2	SMART
low complexity region	227	238	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100329

SMART Domains

Protein: ENSMUSP00000097903
Gene: ENSMUSG00000006471

Domain	Start	End	E-Value	Type
Pfam:Flavodoxin_1	8	124	2.3e-23	PFAM
Pfam:FAD_binding_1	134	354	8e-50	PFAM
Pfam:NAD_binding_1	389	495	2.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114349

SMART Domains

Protein: ENSMUSP00000109989
Gene: ENSMUSG00000006471

Domain	Start	End	E-Value	Type
Pfam:Flavodoxin_1	8	145	2.3e-32	PFAM
Pfam:FAD_binding_1	201	421	2e-48	PFAM
Pfam:NAD_binding_1	456	561	1.7e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114355
AA Change: T157P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109995
Gene: ENSMUSG00000044628
AA Change: T157P

Domain	Start	End	E-Value	Type
low complexity region	45	63	N/A	INTRINSIC
low complexity region	126	138	N/A	INTRINSIC
RING	147	193	1.11e-2	SMART
low complexity region	227	238	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114356

SMART Domains

Protein: ENSMUSP00000109996
Gene: ENSMUSG00000036731

Domain	Start	End	E-Value	Type
Pfam:DUF2477	1	141	2.3e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129705

Predicted Effect

probably benign
Transcript: ENSMUST00000148589

SMART Domains

Protein: ENSMUSP00000123958
Gene: ENSMUSG00000006471

Domain	Start	End	E-Value	Type
PDB:4H2D\|B	1	49	7e-10	PDB
SCOP:d1f4pa_	4	45	3e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154498

Predicted Effect

probably benign
Transcript: ENSMUST00000228052

Predicted Effect

probably benign
Transcript: ENSMUST00000228627

Predicted Effect

probably benign
Transcript: ENSMUST00000186719

SMART Domains

Protein: ENSMUSP00000140416
Gene: ENSMUSG00000036731

Domain	Start	End	E-Value	Type
Pfam:DUF2477	1	141	2.2e-92	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,214,084 (GRCm39)	Y304H	possibly damaging	Het
Add2	A	G	6: 86,075,655 (GRCm39)	E268G	probably damaging	Het
Akr1b1	A	C	6: 34,289,609 (GRCm39)	V67G	probably benign	Het
Alms1	A	T	6: 85,599,937 (GRCm39)	N1588Y	probably damaging	Het
Arhgap23	A	T	11: 97,366,965 (GRCm39)	D1082V	probably damaging	Het
Asb6	A	G	2: 30,714,207 (GRCm39)	V301A	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Atg7	T	A	6: 114,648,194 (GRCm39)	C31S	probably benign	Het
Camsap2	A	T	1: 136,208,176 (GRCm39)	N1105K	possibly damaging	Het
Ccdc125	C	T	13: 100,820,877 (GRCm39)		probably null	Het
Ccdc63	T	C	5: 122,267,799 (GRCm39)	I56V	possibly damaging	Het
Cpd	T	C	11: 76,681,714 (GRCm39)	E1143G	probably benign	Het
Cpt1a	T	A	19: 3,421,556 (GRCm39)		probably null	Het
Creb3l2	A	T	6: 37,311,369 (GRCm39)	D473E	probably benign	Het
Disp2	G	T	2: 118,620,275 (GRCm39)	V336L	probably benign	Het
Efr3b	A	G	12: 4,017,106 (GRCm39)	I782T	possibly damaging	Het
Fam98a	A	G	17: 75,846,427 (GRCm39)	V230A	probably damaging	Het
Fat3	T	A	9: 15,899,788 (GRCm39)	T3082S	probably benign	Het
Frmd3	T	C	4: 74,105,688 (GRCm39)	Y445H	probably damaging	Het
Galt	G	A	4: 41,757,202 (GRCm39)	R185Q	probably benign	Het
Gatb	T	C	3: 85,520,818 (GRCm39)	I309T	possibly damaging	Het
Gfi1b	G	A	2: 28,503,820 (GRCm39)	Q127*	probably null	Het
Gfpt1	C	A	6: 87,063,302 (GRCm39)	T563N	probably damaging	Het
Gria1	A	G	11: 57,108,608 (GRCm39)	D237G	probably damaging	Het
Hspbp1	A	T	7: 4,666,465 (GRCm39)	V305D	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Iars1	T	C	13: 49,859,307 (GRCm39)	V9A	probably damaging	Het
Ipo4	G	A	14: 55,869,596 (GRCm39)	P355S	probably damaging	Het
Jade2	G	T	11: 51,717,413 (GRCm39)	C314*	probably null	Het
Kri1	T	C	9: 21,186,565 (GRCm39)	E597G	probably benign	Het
Mcub	A	G	3: 129,720,038 (GRCm39)	Y152H	probably damaging	Het
Med23	C	T	10: 24,779,646 (GRCm39)	R542*	probably null	Het
Ndc80	T	C	17: 71,818,483 (GRCm39)	N291S	probably benign	Het
Nop2	T	C	6: 125,110,529 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,896,218 (GRCm39)	N984S	probably damaging	Het
Ntm	A	C	9: 28,920,671 (GRCm39)	L86R	probably damaging	Het
Numa1	T	A	7: 101,661,219 (GRCm39)	D1847E	possibly damaging	Het
Odf2l	A	G	3: 144,845,624 (GRCm39)	Q334R	probably damaging	Het
Or10ak11	A	T	4: 118,687,588 (GRCm39)		probably null	Het
Or2ag2	C	T	7: 106,485,134 (GRCm39)	V297I	possibly damaging	Het
Or4a39	T	A	2: 89,237,316 (GRCm39)	T36S	probably damaging	Het
Or5ac17	T	C	16: 59,036,296 (GRCm39)	R227G	probably benign	Het
Or6ae1	A	T	7: 139,742,722 (GRCm39)	V47E	possibly damaging	Het
Or6c203	A	G	10: 129,010,224 (GRCm39)	V222A	probably benign	Het
Pacc1	A	G	1: 191,073,037 (GRCm39)	R153G	probably benign	Het
Pcdhb19	A	T	18: 37,630,776 (GRCm39)	K190N	probably damaging	Het
Pdik1l	A	G	4: 134,006,352 (GRCm39)	F197L	probably damaging	Het
Rnf113a2	T	C	12: 84,464,764 (GRCm39)	F219L	probably damaging	Het
RP23-145I16.3	A	T	7: 141,930,451 (GRCm39)	C364S	probably damaging	Het
Scn8a	A	T	15: 100,881,865 (GRCm39)	D644V	probably damaging	Het
Thbs3	T	A	3: 89,125,401 (GRCm39)	C204S	probably damaging	Het
Tlr3	A	G	8: 45,851,565 (GRCm39)	I444T	probably damaging	Het
Trpm8	A	T	1: 88,282,191 (GRCm39)	I696F	possibly damaging	Het
Ttn	A	T	2: 76,660,941 (GRCm39)	V7422D	possibly damaging	Het
Ufl1	A	G	4: 25,278,038 (GRCm39)	V139A	probably benign	Het
Uggt2	A	T	14: 119,308,238 (GRCm39)	V381D	probably benign	Het
Vgll3	T	A	16: 65,636,367 (GRCm39)	Y173N	probably damaging	Het
Vmn1r9	A	G	6: 57,048,158 (GRCm39)	T78A	probably benign	Het
Vps13b	T	A	15: 35,472,114 (GRCm39)	L806M	probably damaging	Het
Vps13d	A	C	4: 144,895,079 (GRCm39)	H394Q	probably benign	Het
Wdr53	T	A	16: 32,075,536 (GRCm39)	V247D	probably damaging	Het
Wdr81	A	T	11: 75,338,695 (GRCm39)	L1488Q	probably damaging	Het
Zc3h6	A	G	2: 128,809,732 (GRCm39)	D3G	possibly damaging	Het
Zfp93	G	T	7: 23,975,725 (GRCm39)	C570F	probably damaging	Het
Zfp943	C	T	17: 22,212,357 (GRCm39)	T481I	probably benign	Het

Other mutations in Rnf208

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02902:Rnf208	APN	2	25,133,774 (GRCm39)	missense	probably benign
R2259:Rnf208	UTSW	2	25,133,656 (GRCm39)	missense	probably damaging	0.99
R5593:Rnf208	UTSW	2	25,133,345 (GRCm39)	missense	possibly damaging	0.82
R6031:Rnf208	UTSW	2	25,133,776 (GRCm39)	missense	probably damaging	1.00
R6955:Rnf208	UTSW	2	25,133,414 (GRCm39)	missense	probably benign	0.19
R7310:Rnf208	UTSW	2	25,133,587 (GRCm39)	missense	probably damaging	1.00
R7444:Rnf208	UTSW	2	25,133,326 (GRCm39)	missense	probably damaging	0.96
R7805:Rnf208	UTSW	2	25,133,912 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AAGGCAGTTCTGAGTTGGGC -3'
(R):5'- AGCTGCCTTCAGATTCACC -3'

Sequencing Primer
(F):5'- CAGTTCTGAGTTGGGCTTCCC -3'
(R):5'- TCAGGGCTTCAGGTGGCAAG -3'

Posted On

2017-08-16