Mutagenetix > Incidental Mutation

Incidental Mutation 'R2107:Rnf6'

232162

Institutional Source

Beutler Lab

Gene Symbol

Rnf6

Ensembl Gene

ENSMUSG00000029634

Gene Name

ring finger protein (C3H2C3 type) 6

Synonyms

5730419H05Rik, 1200013I08Rik

MMRRC Submission

040111-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.778) question?

Stock #

R2107 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146146003-146158267 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 146148091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 309 (T309I)

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: T309I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067559
Gene: ENSMUSG00000029634
AA Change: T309I

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: T309I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124293
Gene: ENSMUSG00000029634
AA Change: T309I

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: ENSMUST00000162219

SMART Domains

Protein: ENSMUSP00000123708
Gene: ENSMUSG00000029634

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: T309I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128774
Gene: ENSMUSG00000029634
AA Change: T309I

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

0.0627

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,685,744 (GRCm39)	L364Q	probably damaging	Het
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Ace2	A	G	X: 162,923,728 (GRCm39)	N24S	probably benign	Het
Acp2	G	A	2: 91,033,940 (GRCm39)		probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Bcas3	G	A	11: 85,348,704 (GRCm39)	V199I	probably damaging	Het
Cblb	T	A	16: 51,973,079 (GRCm39)		probably null	Het
Ccdc88c	G	T	12: 100,887,808 (GRCm39)	D1557E	probably benign	Het
Cdc20	T	C	4: 118,290,710 (GRCm39)	Y430C	probably damaging	Het
Cdk5rap1	C	T	2: 154,195,166 (GRCm39)	D350N	probably benign	Het
Cgrrf1	T	A	14: 47,090,833 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,036,156 (GRCm39)	Y185*	probably null	Het
Cmtm8	A	T	9: 114,625,176 (GRCm39)	V85D	possibly damaging	Het
Cplx4	A	G	18: 66,089,964 (GRCm39)	S152P	probably benign	Het
Crmp1	G	T	5: 37,399,838 (GRCm39)	R117L	probably benign	Het
Csad	G	C	15: 102,087,469 (GRCm39)	L365V	probably null	Het
Dyrk1a	C	T	16: 94,487,386 (GRCm39)	T532M	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fan1	T	G	7: 64,016,536 (GRCm39)	R529S	probably damaging	Het
Fbln5	A	G	12: 101,737,528 (GRCm39)	W173R	probably damaging	Het
Gm9611	A	T	14: 42,116,611 (GRCm39)	N42K	possibly damaging	Het
Gnal	T	A	18: 67,346,649 (GRCm39)	L257Q	probably damaging	Het
Hint3	A	T	10: 30,494,252 (GRCm39)	F33I	probably damaging	Het
Ipcef1	A	G	10: 6,840,501 (GRCm39)	S403P	probably benign	Het
Kmt2c	T	C	5: 25,514,822 (GRCm39)	N3007S	probably benign	Het
Kpna3	T	C	14: 61,607,933 (GRCm39)	D424G	possibly damaging	Het
Krt90	A	G	15: 101,471,064 (GRCm39)	I66T	probably benign	Het
Lamc2	A	G	1: 153,030,132 (GRCm39)		probably benign	Het
Lmtk3	G	T	7: 45,443,393 (GRCm39)	C692F	possibly damaging	Het
Lrguk	T	C	6: 34,039,296 (GRCm39)	M269T	probably benign	Het
Lrrc19	T	A	4: 94,527,531 (GRCm39)	T227S	probably benign	Het
Lrrk1	C	A	7: 65,929,030 (GRCm39)	D1201Y	probably damaging	Het
Matn2	T	A	15: 34,423,905 (GRCm39)	Y588N	probably damaging	Het
Mmp1b	A	G	9: 7,369,310 (GRCm39)	W346R	probably damaging	Het
Mpo	T	C	11: 87,686,901 (GRCm39)	Y177H	probably damaging	Het
Mprip	A	G	11: 59,660,717 (GRCm39)	K2166R	probably damaging	Het
Myo15a	T	C	11: 60,382,636 (GRCm39)	Y1544H	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Nedd9	A	T	13: 41,492,455 (GRCm39)	C12*	probably null	Het
Neu1	G	A	17: 35,153,374 (GRCm39)	R299Q	probably benign	Het
Nisch	C	T	14: 30,894,097 (GRCm39)	V172I	probably damaging	Het
Npy2r	A	T	3: 82,448,436 (GRCm39)		probably null	Het
Ogg1	C	A	6: 113,306,254 (GRCm39)	N150K	probably damaging	Het
Or1j4	C	A	2: 36,740,355 (GRCm39)	A99E	possibly damaging	Het
Or1p1	T	C	11: 74,180,216 (GRCm39)	V248A	probably damaging	Het
Or6c219	A	G	10: 129,781,581 (GRCm39)	S2P	probably damaging	Het
Pck1	G	C	2: 172,995,861 (GRCm39)	E120Q	probably benign	Het
Pde11a	A	G	2: 76,168,266 (GRCm39)	V229A	probably damaging	Het
Pias2	T	C	18: 77,185,167 (GRCm39)	F83L	probably benign	Het
Plagl1	A	C	10: 13,004,391 (GRCm39)		probably benign	Het
Plin3	A	T	17: 56,591,391 (GRCm39)	S130T	probably benign	Het
Rcc2	A	G	4: 140,448,496 (GRCm39)	Y515C	probably damaging	Het
Rgs12	A	G	5: 35,124,079 (GRCm39)	K621E	possibly damaging	Het
Rpusd3	G	T	6: 113,392,523 (GRCm39)	T335N	probably damaging	Het
Scn8a	A	T	15: 100,916,244 (GRCm39)	I1218F	probably damaging	Het
Slc23a1	T	A	18: 35,758,879 (GRCm39)	Q104L	possibly damaging	Het
Slc34a3	A	T	2: 25,120,999 (GRCm39)	V363D	probably damaging	Het
Smap1	A	T	1: 23,887,535 (GRCm39)	M248K	possibly damaging	Het
Sp1	A	G	15: 102,318,113 (GRCm39)		probably null	Het
Tasor	T	A	14: 27,183,744 (GRCm39)		probably null	Het
Tbc1d1	T	G	5: 64,442,048 (GRCm39)	N689K	probably benign	Het
Tff2	T	C	17: 31,361,256 (GRCm39)	E99G	possibly damaging	Het
Tjp3	T	C	10: 81,116,378 (GRCm39)	N239D	possibly damaging	Het
Trim37	G	A	11: 87,050,651 (GRCm39)	R230Q	probably benign	Het
Ubr5	A	G	15: 37,989,546 (GRCm39)	M2090T	probably benign	Het
Unc13a	T	C	8: 72,108,895 (GRCm39)		probably null	Het
Usp43	GC	G	11: 67,746,566 (GRCm39)		probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vav2	T	C	2: 27,157,315 (GRCm39)	E829G	probably damaging	Het
Vps35l	T	C	7: 118,393,762 (GRCm39)		probably benign	Het
Zfp26	A	T	9: 20,353,533 (GRCm39)	D85E	probably benign	Het
Zfp292	A	T	4: 34,808,593 (GRCm39)	F1484I	possibly damaging	Het

Other mutations in Rnf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Rnf6	APN	5	146,148,715 (GRCm39)	missense	possibly damaging	0.86
IGL01432:Rnf6	APN	5	146,152,931 (GRCm39)	missense	possibly damaging	0.61
IGL01722:Rnf6	APN	5	146,147,036 (GRCm39)	missense	probably benign
IGL01866:Rnf6	APN	5	146,147,717 (GRCm39)	missense	probably damaging	0.99
R0141:Rnf6	UTSW	5	146,148,645 (GRCm39)	missense	possibly damaging	0.95
R0551:Rnf6	UTSW	5	146,148,205 (GRCm39)	missense	possibly damaging	0.65
R0619:Rnf6	UTSW	5	146,147,531 (GRCm39)	missense	possibly damaging	0.58
R0685:Rnf6	UTSW	5	146,148,468 (GRCm39)	missense	probably damaging	0.99
R1363:Rnf6	UTSW	5	146,148,369 (GRCm39)	missense	probably benign
R1387:Rnf6	UTSW	5	146,148,055 (GRCm39)	missense	probably benign	0.00
R1671:Rnf6	UTSW	5	146,147,998 (GRCm39)	nonsense	probably null
R2047:Rnf6	UTSW	5	146,148,674 (GRCm39)	missense	probably damaging	0.99
R2074:Rnf6	UTSW	5	146,147,716 (GRCm39)	missense	probably damaging	0.98
R2871:Rnf6	UTSW	5	146,147,215 (GRCm39)	missense	probably benign	0.07
R2871:Rnf6	UTSW	5	146,147,215 (GRCm39)	missense	probably benign	0.07
R2873:Rnf6	UTSW	5	146,147,215 (GRCm39)	missense	probably benign	0.07
R2874:Rnf6	UTSW	5	146,147,215 (GRCm39)	missense	probably benign	0.07
R4361:Rnf6	UTSW	5	146,148,089 (GRCm39)	missense	probably damaging	1.00
R5421:Rnf6	UTSW	5	146,147,339 (GRCm39)	missense	probably benign	0.06
R5437:Rnf6	UTSW	5	146,147,090 (GRCm39)	missense	probably damaging	1.00
R5614:Rnf6	UTSW	5	146,154,910 (GRCm39)	splice site	probably null
R5848:Rnf6	UTSW	5	146,147,959 (GRCm39)	missense	probably benign	0.25
R7515:Rnf6	UTSW	5	146,148,602 (GRCm39)	missense	probably damaging	1.00
R7589:Rnf6	UTSW	5	146,148,239 (GRCm39)	missense	possibly damaging	0.92
R7767:Rnf6	UTSW	5	146,147,987 (GRCm39)	nonsense	probably null
R7767:Rnf6	UTSW	5	146,147,986 (GRCm39)	missense	probably damaging	0.98
R8155:Rnf6	UTSW	5	146,147,815 (GRCm39)	missense	probably damaging	0.96
R8205:Rnf6	UTSW	5	146,147,714 (GRCm39)	missense	probably damaging	0.98
R8302:Rnf6	UTSW	5	146,148,334 (GRCm39)	missense	probably benign
R8433:Rnf6	UTSW	5	146,148,088 (GRCm39)	missense	probably damaging	0.96
R9561:Rnf6	UTSW	5	146,147,936 (GRCm39)	missense	probably benign	0.00
R9732:Rnf6	UTSW	5	146,152,931 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTTGCAGGTCCAGTGTGATTG -3'
(R):5'- TACTCTCAGGCAAGGTGGAC -3'

Sequencing Primer
(F):5'- TGAGGACCTGCTAGACTCTC -3'
(R):5'- ACGGCAGCGGTTTGGAG -3'

Posted On

2014-09-18