Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Rnf6'

45163

Institutional Source

Beutler Lab

Gene Symbol

Rnf6

Ensembl Gene

ENSMUSG00000029634

Gene Name

ring finger protein (C3H2C3 type) 6

Synonyms

5730419H05Rik, 1200013I08Rik

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.760) question?

Stock #

R0551 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146209192-146221555 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146211395 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 271 (N271I)

Ref Sequence

ENSEMBL: ENSMUSP00000128774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067837] [ENSMUST00000159074] [ENSMUST00000161331] [ENSMUST00000161574] [ENSMUST00000161859] [ENSMUST00000169407]

AlphaFold

Q9DBU5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067837
AA Change: N271I

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000067559
Gene: ENSMUSG00000029634
AA Change: N271I

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	79	95	N/A	INTRINSIC
low complexity region	187	215	N/A	INTRINSIC
low complexity region	513	530	N/A	INTRINSIC
RING	614	654	6.68e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159074

SMART Domains

Protein: ENSMUSP00000123926
Gene: ENSMUSG00000029634

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
low complexity region	90	106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161331

SMART Domains

Protein: ENSMUSP00000125611
Gene: ENSMUSG00000029634

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	79	95	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161574

SMART Domains

Protein: ENSMUSP00000123730
Gene: ENSMUSG00000029634

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
low complexity region	90	106	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161859
AA Change: N271I

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124293
Gene: ENSMUSG00000029634
AA Change: N271I

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	79	95	N/A	INTRINSIC
low complexity region	187	215	N/A	INTRINSIC
low complexity region	513	530	N/A	INTRINSIC
RING	614	654	6.68e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000162219
AA Change: N240I

SMART Domains

Protein: ENSMUSP00000123708
Gene: ENSMUSG00000029634
AA Change: N240I

Domain	Start	End	E-Value	Type
low complexity region	49	65	N/A	INTRINSIC
low complexity region	157	185	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169407
AA Change: N271I

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128774
Gene: ENSMUSG00000029634
AA Change: N271I

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	79	95	N/A	INTRINSIC
low complexity region	187	215	N/A	INTRINSIC
low complexity region	513	530	N/A	INTRINSIC
RING	614	654	6.68e-6	SMART

Meta Mutation Damage Score

0.1133

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING-H2 finger motif. Deletions and mutations in this gene were detected in esophageal squamous cell carcinoma (ESCC), suggesting that this protein may be a potential tumor suppressor. Studies of the mouse counterpart suggested a role of this protein in the transcription regulation that controls germinal differentiation. Multiple alternatively spliced transcript variants encoding the same protein are observed. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,662,641	T456S	probably benign	Het
5830473C10Rik	C	T	5: 90,572,719	P250S	probably damaging	Het
Acmsd	A	T	1: 127,766,333	K333N	probably benign	Het
Adcy2	T	A	13: 68,796,539	K241N	probably damaging	Het
Aebp1	A	G	11: 5,867,955	I77V	probably benign	Het
Ankrd35	A	G	3: 96,683,960	T521A	probably benign	Het
Arap2	C	T	5: 62,641,323		probably null	Het
Arfgap3	A	T	15: 83,343,137	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,825,825		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Auts2	T	C	5: 131,440,469	E446G	possibly damaging	Het
Brwd1	C	T	16: 96,035,974	R886H	probably damaging	Het
Carm1	G	A	9: 21,580,491		probably null	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cfap54	A	T	10: 93,025,122	M841K	probably benign	Het
Clca4b	T	A	3: 144,928,626	T69S	probably damaging	Het
Cpox	A	G	16: 58,675,390	I357V	probably benign	Het
Diaph3	C	A	14: 86,910,100	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,732,040		probably benign	Het
Fam120b	A	T	17: 15,431,643		probably benign	Het
Fcho1	A	G	8: 71,712,174	S488P	probably benign	Het
Flcn	A	G	11: 59,795,748		probably null	Het
Flt3l	A	G	7: 45,132,266	W234R	probably damaging	Het
Fzd7	G	T	1: 59,483,284	V109L	probably damaging	Het
G3bp1	A	G	11: 55,489,143	N101S	probably benign	Het
Gadd45g	A	G	13: 51,847,927	E143G	probably damaging	Het
Ganab	T	G	19: 8,907,280	I149S	probably benign	Het
Garnl3	A	G	2: 33,016,738	S413P	probably damaging	Het
Glis1	C	T	4: 107,568,119		probably null	Het
Gm11563	A	G	11: 99,658,713	S72P	unknown	Het
Gpd1	T	G	15: 99,720,629	I188S	possibly damaging	Het
Gria2	A	G	3: 80,732,026		probably benign	Het
H2afy2	A	G	10: 61,741,166	S308P	probably damaging	Het
Hpcal4	G	T	4: 123,189,055	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,328,668	T1364I	probably benign	Het
Kdm4a	T	C	4: 118,138,231	*1065W	probably null	Het
Klkb1	A	G	8: 45,277,966		probably null	Het
Lipo3	T	C	19: 33,580,551	D147G	probably damaging	Het
Lrp1	A	G	10: 127,571,958	S1821P	probably benign	Het
Manba	T	C	3: 135,517,973	I207T	probably damaging	Het
Mark3	T	A	12: 111,633,634	S428T	probably benign	Het
Mfsd4a	G	A	1: 132,041,919	T348I	probably damaging	Het
Mfsd7a	A	G	5: 108,444,465		probably benign	Het
Mybbp1a	A	G	11: 72,448,376	M880V	probably benign	Het
N4bp2	T	A	5: 65,820,341		probably null	Het
Nrd1	T	G	4: 109,047,708	I712S	probably damaging	Het
Nup210	G	A	6: 91,021,484	R774C	possibly damaging	Het
Obscn	G	A	11: 59,107,862	R1395*	probably null	Het
Olfr1454	T	A	19: 13,064,294	D294E	probably benign	Het
Pcdh7	T	C	5: 57,721,994	Y964H	probably damaging	Het
Plin4	T	C	17: 56,106,756	T290A	probably benign	Het
Ppara	T	C	15: 85,787,105		probably benign	Het
Psg21	T	G	7: 18,652,640		probably null	Het
Ptar1	C	A	19: 23,720,340	N405K	probably benign	Het
Ralgps2	A	G	1: 156,832,663		probably null	Het
Sis	T	C	3: 72,925,407	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,352,754		probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Sntg1	C	A	1: 8,554,736	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,311,816	E567D	probably damaging	Het
Sp110	C	A	1: 85,589,100		probably benign	Het
Ssu2	A	G	6: 112,380,554	V175A	possibly damaging	Het
Stk36	G	A	1: 74,616,621	E428K	probably benign	Het
Teddm1b	A	T	1: 153,875,344	I300F	possibly damaging	Het
Thy1	T	C	9: 44,047,348	V129A	probably damaging	Het
Tiam2	T	A	17: 3,428,954	M654K	probably damaging	Het
Tmem69	T	C	4: 116,553,273	S167G	probably benign	Het
Tmem8	C	A	17: 26,120,602	Q605K	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tspan10	A	G	11: 120,444,418	D118G	probably damaging	Het
Tspo2	A	G	17: 48,448,813		probably benign	Het
Ttn	G	A	2: 76,908,328	Q4002*	probably null	Het
Tyro3	G	A	2: 119,816,904	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 86,926,084	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,071,539	I200F	probably benign	Het

Other mutations in Rnf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Rnf6	APN	5	146211905	missense	possibly damaging	0.86
IGL01432:Rnf6	APN	5	146216121	missense	possibly damaging	0.61
IGL01722:Rnf6	APN	5	146210226	missense	probably benign
IGL01866:Rnf6	APN	5	146210907	missense	probably damaging	0.99
R0141:Rnf6	UTSW	5	146211835	missense	possibly damaging	0.95
R0619:Rnf6	UTSW	5	146210721	missense	possibly damaging	0.58
R0685:Rnf6	UTSW	5	146211658	missense	probably damaging	0.99
R1363:Rnf6	UTSW	5	146211559	missense	probably benign
R1387:Rnf6	UTSW	5	146211245	missense	probably benign	0.00
R1671:Rnf6	UTSW	5	146211188	nonsense	probably null
R2047:Rnf6	UTSW	5	146211864	missense	probably damaging	0.99
R2074:Rnf6	UTSW	5	146210906	missense	probably damaging	0.98
R2107:Rnf6	UTSW	5	146211281	missense	probably damaging	0.99
R2871:Rnf6	UTSW	5	146210405	missense	probably benign	0.07
R2871:Rnf6	UTSW	5	146210405	missense	probably benign	0.07
R2873:Rnf6	UTSW	5	146210405	missense	probably benign	0.07
R2874:Rnf6	UTSW	5	146210405	missense	probably benign	0.07
R4361:Rnf6	UTSW	5	146211279	missense	probably damaging	1.00
R5421:Rnf6	UTSW	5	146210529	missense	probably benign	0.06
R5437:Rnf6	UTSW	5	146210280	missense	probably damaging	1.00
R5614:Rnf6	UTSW	5	146218100	splice site	probably null
R5848:Rnf6	UTSW	5	146211149	missense	probably benign	0.25
R7515:Rnf6	UTSW	5	146211792	missense	probably damaging	1.00
R7589:Rnf6	UTSW	5	146211429	missense	possibly damaging	0.92
R7767:Rnf6	UTSW	5	146211176	missense	probably damaging	0.98
R7767:Rnf6	UTSW	5	146211177	nonsense	probably null
R8155:Rnf6	UTSW	5	146211005	missense	probably damaging	0.96
R8205:Rnf6	UTSW	5	146210904	missense	probably damaging	0.98
R8302:Rnf6	UTSW	5	146211524	missense	probably benign
R8433:Rnf6	UTSW	5	146211278	missense	probably damaging	0.96
R9561:Rnf6	UTSW	5	146211126	missense	probably benign	0.00
R9732:Rnf6	UTSW	5	146216121	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTGCCTAACAGACCTGTTTCTACCC -3'
(R):5'- CAGCAAAGACCATCGAGTCCTGTG -3'

Sequencing Primer
(F):5'- ACCCGTTTGCTGTACTGG -3'
(R):5'- TCCTGTGGCTAGGCGAAC -3'

Posted On

2013-06-11