Mutagenetix > Incidental Mutation

Incidental Mutation 'R7515:Rnf6'

582383

Institutional Source

Beutler Lab

Gene Symbol

Rnf6

Ensembl Gene

ENSMUSG00000029634

Gene Name

ring finger protein (C3H2C3 type) 6

Synonyms

5730419H05Rik, 1200013I08Rik

MMRRC Submission

045588-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.778) question?

Stock #

R7515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146146003-146158267 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 146148602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 139 (S139R)

Ref Sequence

ENSEMBL: ENSMUSP00000067559 (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: S139R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067559
Gene: ENSMUSG00000029634
AA Change: S139R

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 damaging
Transcript: ENSMUST00000161331
AA Change: S139R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125611
Gene: ENSMUSG00000029634
AA Change: S139R

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 damaging
Transcript: ENSMUST00000161574
AA Change: S150R

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

SMART Domains

Protein: ENSMUSP00000123730
Gene: ENSMUSG00000029634
AA Change: S150R

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: S139R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124293
Gene: ENSMUSG00000029634
AA Change: S139R

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

SMART Domains

Protein: ENSMUSP00000123708
Gene: ENSMUSG00000029634
AA Change: S108R

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: S139R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128774
Gene: ENSMUSG00000029634
AA Change: S139R

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

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	T	11: 5,578,905 (GRCm39)	E56D	possibly damaging	Het
Ankrd44	T	C	1: 54,805,514 (GRCm39)	Y182C	probably damaging	Het
Anxa3	A	T	5: 96,986,179 (GRCm39)	N273Y	probably damaging	Het
Apobec2	T	C	17: 48,730,015 (GRCm39)	E217G	probably damaging	Het
Arhgap24	A	G	5: 102,993,882 (GRCm39)		probably benign	Het
Asap2	A	G	12: 21,279,240 (GRCm39)	H374R	possibly damaging	Het
Camsap2	T	C	1: 136,273,108 (GRCm39)	D23G	probably damaging	Het
Ccr2	T	C	9: 123,906,197 (GRCm39)	V159A	probably damaging	Het
Cfap61	T	A	2: 145,884,645 (GRCm39)	D614E	unknown	Het
Crb2	G	A	2: 37,673,412 (GRCm39)	G103R	probably damaging	Het
Cyp2b9	A	G	7: 25,898,596 (GRCm39)	Y317C	probably damaging	Het
Dhx36	A	G	3: 62,379,508 (GRCm39)	V860A	probably benign	Het
Dnah3	T	C	7: 119,672,815 (GRCm39)	D553G	probably benign	Het
Dnah7c	T	C	1: 46,496,450 (GRCm39)	S112P	probably benign	Het
Dnah9	A	G	11: 65,732,240 (GRCm39)	F4222S	probably benign	Het
Ei24	T	C	9: 36,701,211 (GRCm39)	D36G	probably damaging	Het
Etv3	G	T	3: 87,435,363 (GRCm39)	R78L	possibly damaging	Het
Fbxo34	T	C	14: 47,767,798 (GRCm39)	L437P	possibly damaging	Het
Foxn1	T	C	11: 78,261,970 (GRCm39)	D133G	possibly damaging	Het
Gabra1	T	A	11: 42,045,660 (GRCm39)	D150V	possibly damaging	Het
Gpr158	T	C	2: 21,373,092 (GRCm39)	L9P	probably damaging	Het
H2-M10.3	G	A	17: 36,677,435 (GRCm39)	T281I	probably damaging	Het
Il18r1	T	C	1: 40,537,830 (GRCm39)	S532P	not run	Het
Itpr2	T	C	6: 146,228,608 (GRCm39)	D1329G	probably damaging	Het
Jakmip2	A	T	18: 43,704,191 (GRCm39)	N384K	probably benign	Het
Kdsr	A	G	1: 106,662,290 (GRCm39)	V255A	possibly damaging	Het
Kifc1	A	G	17: 34,103,777 (GRCm39)	L182P	probably damaging	Het
Lgals8	G	A	13: 12,463,343 (GRCm39)	R198*	probably null	Het
Lrrk1	A	T	7: 65,912,310 (GRCm39)	M1750K	probably benign	Het
Lrsam1	A	G	2: 32,830,251 (GRCm39)		probably null	Het
Lztr1	C	T	16: 17,327,525 (GRCm39)	A76V	possibly damaging	Het
Mcc	G	T	18: 44,626,499 (GRCm39)	H366N	probably benign	Het
Mif4gd	A	G	11: 115,499,222 (GRCm39)	V220A	possibly damaging	Het
Mtmr12	T	A	15: 12,270,037 (GRCm39)	F708L	probably damaging	Het
Muc16	A	T	9: 18,550,958 (GRCm39)	W5112R	probably benign	Het
Ndrg2	A	G	14: 52,146,380 (GRCm39)	I140T	probably benign	Het
Nid2	C	A	14: 19,841,635 (GRCm39)	Q887K	probably benign	Het
Nop16	A	T	13: 54,737,550 (GRCm39)	S48T	possibly damaging	Het
Nrap	G	A	19: 56,354,859 (GRCm39)	T489I	possibly damaging	Het
Oas1e	C	T	5: 120,929,951 (GRCm39)	G189D	probably damaging	Het
Or4a39	A	G	2: 89,237,250 (GRCm39)	Y58H	possibly damaging	Het
Or7g34	A	T	9: 19,477,949 (GRCm39)	C244S	probably damaging	Het
Pcdha5	A	T	18: 37,095,171 (GRCm39)	D560V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phldb2	C	T	16: 45,594,603 (GRCm39)	D901N	possibly damaging	Het
Piezo1	T	C	8: 123,212,035 (GRCm39)	H2058R		Het
Ptgis	T	A	2: 167,048,758 (GRCm39)	K419N	possibly damaging	Het
Ptprz1	T	C	6: 23,022,266 (GRCm39)	F1714L	probably damaging	Het
Rasa2	T	C	9: 96,434,353 (GRCm39)		probably null	Het
Recql	C	T	6: 142,320,611 (GRCm39)	D146N	probably damaging	Het
Rock1	A	G	18: 10,067,631 (GRCm39)	S1301P	probably damaging	Het
Safb2	A	G	17: 56,889,982 (GRCm39)		probably null	Het
Setd5	T	A	6: 113,087,850 (GRCm39)	I137N	probably damaging	Het
Sf3b6	G	A	12: 4,870,619 (GRCm39)	R19Q	probably damaging	Het
Slc15a5	T	A	6: 138,020,496 (GRCm39)	H279L	possibly damaging	Het
Slc26a9	A	G	1: 131,681,711 (GRCm39)	T175A	probably damaging	Het
Sspo	A	T	6: 48,470,820 (GRCm39)	N36I	probably damaging	Het
Supv3l1	A	C	10: 62,268,090 (GRCm39)	F585C	probably damaging	Het
Tnrc6c	G	T	11: 117,632,507 (GRCm39)	V1070L	probably benign	Het
Vmn2r53	T	A	7: 12,315,846 (GRCm39)	M658L	probably benign	Het
Zc3h13	A	G	14: 75,546,349 (GRCm39)	D150G	unknown	Het
Zfp607b	T	C	7: 27,402,921 (GRCm39)	V459A	probably benign	Het
Zfp653	T	C	9: 21,982,427 (GRCm39)	R71G	probably 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
R2107:Rnf6	UTSW	5	146,148,091 (GRCm39)	missense	probably damaging	0.99
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
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'- TAGGACCACTGGAGCTCATG -3'
(R):5'- CAGCACAACTGTCTTCCTTGAATG -3'

Sequencing Primer
(F):5'- AGCTCATGGAGGTCTGGC -3'
(R):5'- CTGAAGTCTTGCTATAGAACTTGACC -3'

Posted On

2019-10-17