Mutagenetix > Incidental Mutation

Incidental Mutation 'R7805:Rnf208'

600708

Institutional Source

Beutler Lab

Gene Symbol

Rnf208

Ensembl Gene

ENSMUSG00000044628

Gene Name

ring finger protein 208

Synonyms

1110061N23Rik

MMRRC Submission

045860-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R7805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25132941-25134273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25133912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 202 (D202G)

Ref Sequence

ENSEMBL: ENSMUSP00000057742 (fasta)

Gene Model

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

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: D202G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057742
Gene: ENSMUSG00000044628
AA Change: D202G

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: D202G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109995
Gene: ENSMUSG00000044628
AA Change: D202G

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

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: ENSMUST00000186719

SMART Domains

Protein: ENSMUSP00000140416
Gene: ENSMUSG00000036731

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228052

Predicted Effect

probably benign
Transcript: ENSMUST00000228627

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,624,128 (GRCm39)		probably null	Het
Aida	A	G	1: 183,085,633 (GRCm39)	K44R	probably damaging	Het
Ano5	G	A	7: 51,187,548 (GRCm39)	V79M	probably damaging	Het
Armc9	G	A	1: 86,124,041 (GRCm39)	G405D	probably damaging	Het
Baat	T	A	4: 49,490,327 (GRCm39)	R252S	probably benign	Het
C9orf72	G	T	4: 35,194,170 (GRCm39)	H372Q		Het
Camkk2	G	T	5: 122,880,275 (GRCm39)	T447K	possibly damaging	Het
Car2	A	G	3: 14,965,130 (GRCm39)	I255V	probably benign	Het
Cdhr1	A	T	14: 36,803,502 (GRCm39)	S525T	probably benign	Het
Col24a1	T	C	3: 145,019,901 (GRCm39)	Y91H	probably benign	Het
Cryba1	C	A	11: 77,613,434 (GRCm39)		probably null	Het
Csmd2	G	A	4: 128,313,366 (GRCm39)	E1348K		Het
Dcst1	A	G	3: 89,260,068 (GRCm39)	L592P	probably damaging	Het
Ddx17	A	G	15: 79,421,723 (GRCm39)	I334T	probably damaging	Het
Dspp	A	T	5: 104,323,259 (GRCm39)	N134I	probably damaging	Het
Eif4g3	T	C	4: 137,873,665 (GRCm39)	V535A	probably benign	Het
Erc1	T	C	6: 119,690,732 (GRCm39)	E847G	possibly damaging	Het
Fancc	A	G	13: 63,508,056 (GRCm39)	S160P	possibly damaging	Het
Fndc9	C	T	11: 46,129,138 (GRCm39)	A219V	probably damaging	Het
Ifitm1	G	A	7: 140,548,282 (GRCm39)	W38*	probably null	Het
Iqch	A	G	9: 63,329,002 (GRCm39)		probably null	Het
Krt9	T	C	11: 100,083,522 (GRCm39)	R170G	possibly damaging	Het
Lama4	T	C	10: 38,902,747 (GRCm39)		probably null	Het
Lrrc18	A	G	14: 32,730,973 (GRCm39)	K171E	probably damaging	Het
Magi1	A	G	6: 93,659,927 (GRCm39)	S1007P	probably benign	Het
Muc16	T	A	9: 18,549,789 (GRCm39)	L5501F	possibly damaging	Het
Nrxn2	A	G	19: 6,581,736 (GRCm39)	N1557S	probably benign	Het
Or5g25	A	T	2: 85,477,794 (GRCm39)	Y290*	probably null	Het
Ovgp1	A	G	3: 105,894,110 (GRCm39)	T628A	unknown	Het
Pld5	A	T	1: 175,872,480 (GRCm39)	L219Q	probably damaging	Het
Rabggta	G	A	14: 55,956,969 (GRCm39)	T273I	probably benign	Het
Sacs	A	G	14: 61,441,040 (GRCm39)	N1029D	not run	Het
Sema6b	T	A	17: 56,438,555 (GRCm39)	I114F	probably damaging	Het
Sgpp1	A	G	12: 75,769,451 (GRCm39)	I239T	probably damaging	Het
Slc12a3	A	G	8: 95,071,515 (GRCm39)	N638S	probably damaging	Het
Slc39a11	T	C	11: 113,482,781 (GRCm39)		probably null	Het
Smc3	T	C	19: 53,629,390 (GRCm39)	S948P	probably benign	Het
Snx24	T	A	18: 53,522,623 (GRCm39)	H159Q	probably benign	Het
Sycp2	G	T	2: 178,022,651 (GRCm39)	N493K	probably damaging	Het
Tiam2	A	G	17: 3,559,685 (GRCm39)	D1242G	probably damaging	Het
Triobp	G	T	15: 78,858,204 (GRCm39)	R1268S	probably benign	Het
Wdr12	T	C	1: 60,136,753 (GRCm39)		probably benign	Het
Xirp2	T	A	2: 67,340,325 (GRCm39)	S855R	probably benign	Het
Zscan20	T	A	4: 128,479,599 (GRCm39)	H964L	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TCATCGTCTGGGCCAGTGATAG -3'
(R):5'- GGTGGACACTACATGATGGAAC -3'

Sequencing Primer
(F):5'- CAGTGATAGCAGGTGAGCCC -3'
(R):5'- CAGGCAGATAGTGGGTTCC -3'

Posted On

2019-11-26