Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01432:Rnf6'

84169

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf6

Ensembl Gene

ENSMUSG00000029634

Gene Name

ring finger protein (C3H2C3 type) 6

Synonyms

5730419H05Rik, 1200013I08Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

IGL01432

Quality Score

Status

Chromosome

Chromosomal Location

146209192-146221555 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146216121 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 95 (S95T)

Ref Sequence

ENSEMBL: ENSMUSP00000123926 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000067837
AA Change: S84T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000067559
Gene: ENSMUSG00000029634
AA Change: S84T

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: ENSMUST00000159074
AA Change: S95T

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123926
Gene: ENSMUSG00000029634
AA Change: S95T

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
AA Change: S84T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000125611
Gene: ENSMUSG00000029634
AA Change: S84T

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
AA Change: S95T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000123730
Gene: ENSMUSG00000029634
AA Change: S95T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161725

Predicted Effect

probably benign
Transcript: ENSMUST00000161859
AA Change: S84T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000124293
Gene: ENSMUSG00000029634
AA Change: S84T

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: S53T

SMART Domains

Protein: ENSMUSP00000123708
Gene: ENSMUSG00000029634
AA Change: S53T

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 benign
Transcript: ENSMUST00000169407
AA Change: S84T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000128774
Gene: ENSMUSG00000029634
AA Change: S84T

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

Coding Region Coverage

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 37,003,759	V3166E	possibly damaging	Het
Aldh9a1	T	C	1: 167,355,785	S191P	probably damaging	Het
Aldoart2	A	T	12: 55,565,781	I164F	probably damaging	Het
Anapc1	C	A	2: 128,633,408	A1384S	probably damaging	Het
Arid5a	T	G	1: 36,319,433	S429A	possibly damaging	Het
Asxl1	A	G	2: 153,400,205	K892E	probably benign	Het
Bpnt1	G	A	1: 185,354,021	W261*	probably null	Het
Calu	A	G	6: 29,356,553	D26G	possibly damaging	Het
Ccdc113	C	T	8: 95,538,257		probably benign	Het
Cd109	T	C	9: 78,698,123	Y1003H	probably benign	Het
Cdh9	A	G	15: 16,830,947	K290R	probably damaging	Het
Cep131	G	A	11: 120,077,009	A140V	possibly damaging	Het
Chn1	A	T	2: 73,631,752	C236S	probably damaging	Het
Cntn4	T	A	6: 106,678,334		probably benign	Het
Crispld1	A	T	1: 17,746,801	Q194L	probably benign	Het
Csmd3	A	G	15: 47,733,499	V1981A	probably damaging	Het
Cttn	A	G	7: 144,461,306	I55T	probably damaging	Het
Ddx46	G	T	13: 55,638,022		probably benign	Het
Diaph1	A	T	18: 37,897,504	I299N	unknown	Het
Dll1	A	G	17: 15,368,506	Y636H	probably damaging	Het
Eng	A	T	2: 32,669,532	Q111L	possibly damaging	Het
Exoc6	T	C	19: 37,589,876	V389A	possibly damaging	Het
Fbxw26	T	A	9: 109,717,975	T461S	probably benign	Het
Gbf1	T	C	19: 46,279,995	Y1269H	probably damaging	Het
Gm10436	T	C	12: 88,176,432	K139E	probably benign	Het
Gm5852	A	G	3: 93,727,779	Y90H	possibly damaging	Het
Gnrhr	C	T	5: 86,182,193	G323R	probably damaging	Het
Gpr155	T	A	2: 73,351,885	E661D	possibly damaging	Het
Grik4	A	T	9: 42,521,176	C842S	probably damaging	Het
Iws1	A	G	18: 32,083,466		probably benign	Het
Kif5c	A	G	2: 49,701,077	T314A	probably damaging	Het
Klhdc1	A	C	12: 69,251,977	K112T	probably damaging	Het
Kmt2a	T	C	9: 44,809,096	T3865A	unknown	Het
Lgr5	T	C	10: 115,453,092	K477R	probably damaging	Het
Ly75	A	T	2: 60,376,007	L106Q	probably damaging	Het
Mcph1	T	A	8: 18,625,639	M26K	probably damaging	Het
Mettl2	T	C	11: 105,126,522	V9A	probably benign	Het
Mgat5b	A	G	11: 116,973,376	D456G	probably benign	Het
Mstn	A	G	1: 53,066,530	T344A	possibly damaging	Het
Npr1	T	A	3: 90,463,236	I308F	possibly damaging	Het
Oasl1	G	A	5: 114,937,407	V509M	probably benign	Het
Obscn	T	C	11: 59,033,757	M5727V	probably benign	Het
Olfr1219	T	A	2: 89,074,201	I297F	probably benign	Het
Olfr262	A	G	19: 12,241,527	S45P	probably damaging	Het
Olfr710	T	C	7: 106,944,541	I153M	possibly damaging	Het
Olfr726	T	A	14: 50,083,947	T245S	probably benign	Het
Pcgf1	T	C	6: 83,078,417	I11T	possibly damaging	Het
Phactr3	T	C	2: 178,283,100	V276A	probably benign	Het
Pla2g6	A	T	15: 79,317,968	M1K	probably null	Het
Plec	T	C	15: 76,190,528	E413G	probably damaging	Het
Plxna2	G	T	1: 194,644,318	A187S	possibly damaging	Het
Polq	A	T	16: 37,071,822		probably benign	Het
Prss39	A	G	1: 34,502,135	D240G	probably benign	Het
Ptpn12	A	T	5: 20,998,555	Y408*	probably null	Het
Ptprt	A	G	2: 162,268,079		probably benign	Het
Ryr2	T	C	13: 11,851,204	S287G	possibly damaging	Het
Samd4b	A	G	7: 28,414,066	F158S	possibly damaging	Het
Slco1a5	T	A	6: 142,236,286	I571L	possibly damaging	Het
Smchd1	T	C	17: 71,431,290	T527A	probably damaging	Het
Smg9	T	C	7: 24,421,266		probably null	Het
Snx25	A	G	8: 46,105,160	L270P	probably damaging	Het
Ssh1	G	T	5: 113,958,822	T165N	probably benign	Het
Stk24	T	A	14: 121,302,806	E127V	probably damaging	Het
Suco	A	G	1: 161,834,120	V914A	probably damaging	Het
Tbcd	T	A	11: 121,475,680		probably benign	Het
Tbcel	A	T	9: 42,444,521	L114Q	possibly damaging	Het
Trpm1	A	G	7: 64,235,019	D816G	probably benign	Het
Uhrf1	G	A	17: 56,318,250	V566M	probably damaging	Het
Ulk4	T	A	9: 121,266,301	E95D	probably damaging	Het
Vmn1r40	T	C	6: 89,714,219	M6T	probably benign	Het
Vmn2r59	C	T	7: 42,012,559	V611I	possibly damaging	Het
Vwde	G	T	6: 13,193,240	H367N	probably benign	Het
Wdr66	A	G	5: 123,279,952	I81M	possibly damaging	Het
Xpo6	A	G	7: 126,124,381	V585A	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
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
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

Posted On

2013-11-11