Mutagenetix > Incidental Mutation

Incidental Mutation 'R0685:Rnf6'

61114

Institutional Source

Beutler Lab

Gene Symbol

Rnf6

Ensembl Gene

ENSMUSG00000029634

Gene Name

ring finger protein (C3H2C3 type) 6

Synonyms

5730419H05Rik, 1200013I08Rik

MMRRC Submission

038870-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.760) question?

Stock #

R0685 (G1)

Quality Score

146

Status

Validated

Chromosome

Chromosomal Location

146209192-146221555 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 146211658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 183 (S183R)

Ref Sequence

ENSEMBL: ENSMUSP00000128774 (fasta)

Gene Model

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

AlphaFold

Q9DBU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000067837
AA Change: S183R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067559
Gene: ENSMUSG00000029634
AA Change: S183R

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

probably damaging
Transcript: ENSMUST00000161859
AA Change: S183R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124293
Gene: ENSMUSG00000029634
AA Change: S183R

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

possibly damaging
Transcript: ENSMUST00000162219
AA Change: S152R

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123708
Gene: ENSMUSG00000029634
AA Change: S152R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169407
AA Change: S183R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128774
Gene: ENSMUSG00000029634
AA Change: S183R

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

0.1250

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (89/91)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,593,438	D17G	probably damaging	Het
Abi3bp	A	G	16: 56,532,953	T82A	possibly damaging	Het
Adgre4	A	C	17: 55,792,035	E180D	probably benign	Het
Ankrd28	G	A	14: 31,743,450		probably benign	Het
Aoc3	A	G	11: 101,336,447	D382G	possibly damaging	Het
Apob	C	A	12: 8,010,742	R3075S	probably benign	Het
Aqr	A	G	2: 114,140,977	F459S	probably damaging	Het
Bcr	T	C	10: 75,131,643	W570R	probably damaging	Het
Bloc1s5	C	T	13: 38,603,919	R163K	probably benign	Het
Bod1	A	T	11: 31,669,267	N101K	possibly damaging	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Chl1	G	A	6: 103,708,542		probably null	Het
Clstn1	G	A	4: 149,646,855	A885T	probably benign	Het
Cyp3a25	G	T	5: 145,998,546	P87T	probably damaging	Het
Dync1h1	T	C	12: 110,657,192	V3633A	probably damaging	Het
Elp4	C	A	2: 105,792,277	C241F	possibly damaging	Het
Fat4	T	A	3: 39,001,178	F4182Y	probably benign	Het
Gabbr2	G	A	4: 46,787,521	H381Y	possibly damaging	Het
Gm10577	G	T	4: 101,020,318		probably benign	Het
Gm884	T	C	11: 103,616,888		probably benign	Het
Gm9955	G	T	18: 24,709,257		probably benign	Het
Gstm5	T	A	3: 107,897,319	I73N	probably damaging	Het
Gypa	T	A	8: 80,496,702		probably benign	Het
Hectd2	T	A	19: 36,569,431	V64D	probably damaging	Het
Igkv10-95	T	A	6: 68,680,559	Y20N	probably benign	Het
Il15	T	C	8: 82,337,559		probably benign	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kiz	C	A	2: 146,856,058		probably benign	Het
Lcmt2	C	A	2: 121,139,240	S234I	probably benign	Het
Lilra5	A	G	7: 4,241,957		probably benign	Het
Lin37	T	C	7: 30,555,874	E187G	probably damaging	Het
Mcmdc2	T	A	1: 9,911,814		probably null	Het
Mctp1	T	C	13: 76,825,799		probably null	Het
Mdp1	C	A	14: 55,659,269	G112*	probably null	Het
Mmp15	T	C	8: 95,372,134	Y530H	possibly damaging	Het
Mtss1l	T	C	8: 110,727,397		probably null	Het
Muc5ac	T	C	7: 141,807,709	S1586P	probably benign	Het
Nap1l5	A	T	6: 58,906,772	C66S	possibly damaging	Het
Ninl	G	T	2: 150,939,855	Q1237K	possibly damaging	Het
Olfr1160	T	C	2: 88,006,418	E111G	probably damaging	Het
Olfr495	A	T	7: 108,395,263	T48S	possibly damaging	Het
Orc6	T	G	8: 85,301,154	S37R	possibly damaging	Het
Papss1	A	C	3: 131,583,093	N119H	possibly damaging	Het
Phf13	A	T	4: 151,991,612	F278I	probably damaging	Het
Pole2	C	A	12: 69,211,413	A239S	probably damaging	Het
Ppt2	T	C	17: 34,626,572	D75G	probably damaging	Het
Psd2	A	G	18: 36,002,991	D443G	possibly damaging	Het
Psen1	C	A	12: 83,714,820	S132*	probably null	Het
Psme4	A	G	11: 30,878,415	T1812A	probably damaging	Het
Rasgrf1	T	C	9: 89,915,482		probably benign	Het
Reep3	A	G	10: 67,021,739		probably benign	Het
Rexo4	A	T	2: 26,958,574		probably benign	Het
Scai	A	T	2: 39,103,737	M297K	probably damaging	Het
Scn9a	A	T	2: 66,483,499	S1947R	probably benign	Het
Sema6c	T	C	3: 95,172,710	C772R	possibly damaging	Het
Skint7	T	C	4: 111,980,345	S107P	possibly damaging	Het
Slc24a3	A	G	2: 145,606,795	N420D	probably benign	Het
Smc1b	T	C	15: 85,070,820	D1077G	possibly damaging	Het
Smg7	G	A	1: 152,866,648	P82L	probably damaging	Het
Sp3	A	C	2: 72,970,998	F268V	probably damaging	Het
Srms	T	C	2: 181,212,633	D47G	probably benign	Het
Ss18	A	C	18: 14,651,181	M150R	probably damaging	Het
Taf5	G	A	19: 47,074,854	R281Q	probably benign	Het
Tars	T	C	15: 11,385,173	K644R	probably benign	Het
Tctex1d1	T	C	4: 103,002,538	Y96H	probably damaging	Het
Tinag	C	A	9: 76,952,003	W441L	probably damaging	Het
Tmtc1	T	C	6: 148,411,240	S244G	probably benign	Het
Tpr	T	C	1: 150,433,725	V1670A	possibly damaging	Het
Trpv3	A	G	11: 73,296,814		probably benign	Het
Uhrf1	G	T	17: 56,310,742	V155L	probably damaging	Het
Ush2a	G	A	1: 188,400,278	C899Y	probably damaging	Het
Vmn2r115	G	A	17: 23,359,275	R574H	probably benign	Het
Vmn2r63	T	C	7: 42,928,010	D368G	probably benign	Het
Vps13a	A	G	19: 16,780,741	V10A	probably damaging	Het
Wbp11	A	G	6: 136,814,638		probably benign	Het
Zcwpw1	A	G	5: 137,799,592	D145G	probably benign	Het
Zfp607a	G	A	7: 27,878,476	V324I	probably damaging	Het
Zfp618	A	G	4: 63,133,774	I931V	probably benign	Het
Zfp821	T	C	8: 109,724,542	V389A	possibly damaging	Het
Zfp976	T	A	7: 42,613,717	H232L	probably damaging	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
R0551:Rnf6	UTSW	5	146211395	missense	possibly damaging	0.65
R0619:Rnf6	UTSW	5	146210721	missense	possibly damaging	0.58
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'- AACTCTGGGAACACCAAGGGCTAC -3'
(R):5'- AGATGAGGACTCTCTGCTGCGATG -3'

Sequencing Primer
(F):5'- AAGGGCTACTCCAATTCCATTC -3'
(R):5'- CTGCTGCGATGGCTGAATAC -3'

Posted On

2013-07-30