Mutagenetix > Incidental Mutations

Incidental Mutation 'R5874:Rnf112'

455400

Institutional Source

Beutler Lab

Gene Symbol

Rnf112

Ensembl Gene

ENSMUSG00000010086

Gene Name

ring finger protein 112

Synonyms

Zfp179, bfp

MMRRC Submission

044081-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5874 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61448442-61454131 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61449447 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 619 (V619A)

Ref Sequence

ENSEMBL: ENSMUSP00000099722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054927] [ENSMUST00000060255] [ENSMUST00000102661]

Predicted Effect

probably benign
Transcript: ENSMUST00000054927
AA Change: V642A

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086
AA Change: V642A

Domain	Start	End	E-Value	Type
RING	80	120	3.78e-5	SMART
low complexity region	139	150	N/A	INTRINSIC
Pfam:GBP	171	423	1.3e-21	PFAM
low complexity region	541	557	N/A	INTRINSIC
transmembrane domain	570	592	N/A	INTRINSIC
transmembrane domain	605	627	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060255
AA Change: V667A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086
AA Change: V667A

Domain	Start	End	E-Value	Type
RING	80	120	3.78e-5	SMART
low complexity region	139	150	N/A	INTRINSIC
Pfam:GBP	171	448	2.8e-21	PFAM
low complexity region	566	582	N/A	INTRINSIC
transmembrane domain	595	617	N/A	INTRINSIC
transmembrane domain	630	652	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102661
AA Change: V619A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086
AA Change: V619A

Domain	Start	End	E-Value	Type
RING	57	97	1.7e-7	SMART
low complexity region	116	127	N/A	INTRINSIC
Pfam:GBP	148	400	2.7e-19	PFAM
low complexity region	518	534	N/A	INTRINSIC
transmembrane domain	547	569	N/A	INTRINSIC
transmembrane domain	582	604	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136966

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152137

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

98% (86/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced dendritic spines, functional synapses and paired pulse facilitation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	A	T	9: 51,290,372	L128*	probably null	Het
2410131K14Rik	T	C	5: 118,259,439	V162A	probably damaging	Het
4930432E11Rik	G	A	7: 29,581,185		noncoding transcript	Het
Adam17	T	C	12: 21,329,086	D654G	possibly damaging	Het
Ankhd1	A	T	18: 36,640,269	H1373L	possibly damaging	Het
Ankrd17	T	C	5: 90,268,797		probably benign	Het
Calu	A	G	6: 29,372,618	D112G	probably damaging	Het
Camk2a	G	C	18: 60,943,200		probably benign	Het
Ccdc130	T	A	8: 84,258,548	D364V	possibly damaging	Het
Cpn1	C	A	19: 43,956,512	R452L	probably benign	Het
Csmd3	T	A	15: 47,644,270	E2780V	probably damaging	Het
Ctnna2	T	C	6: 76,902,430	T824A	probably benign	Het
Cuedc2	C	T	19: 46,331,385	V164M	possibly damaging	Het
Cyp2d34	T	A	15: 82,619,042	D74V	probably benign	Het
Ddi2	A	G	4: 141,695,469	S311P	probably damaging	Het
Ddx10	A	C	9: 53,229,198	I301R	possibly damaging	Het
Dmpk	T	C	7: 19,092,082		probably benign	Het
Dnah7b	C	T	1: 46,191,725	T1381I	probably damaging	Het
Dst	T	A	1: 34,179,589	N1703K	probably damaging	Het
Dtwd1	T	A	2: 126,158,439	H98Q	probably damaging	Het
Ecel1	A	C	1: 87,148,009	V769G	probably benign	Het
Eno4	T	C	19: 58,946,806	V150A	probably benign	Het
Evc2	C	T	5: 37,417,539		probably benign	Het
Ext1	T	A	15: 53,101,752	Q406L	possibly damaging	Het
Fam104a	T	A	11: 113,677,394	R78S	probably damaging	Het
Fam35a	T	C	14: 34,245,258	T114A	probably benign	Het
Foxf2	A	G	13: 31,626,792	H238R	probably benign	Het
Frem2	C	G	3: 53,537,489	G2407A	probably benign	Het
Fzd10	A	G	5: 128,601,300	E28G	probably benign	Het
Galnt15	T	C	14: 32,052,367	F363L	probably damaging	Het
Gm1758	C	T	16: 14,507,173		noncoding transcript	Het
Gm5866	C	T	5: 52,582,614		noncoding transcript	Het
Gm6614	A	T	6: 141,972,235	H638Q	probably benign	Het
Heatr9	T	A	11: 83,514,600	M345L	probably benign	Het
Il23r	A	T	6: 67,431,645	F404Y	possibly damaging	Het
Lrrc8a	T	C	2: 30,257,136	I654T	probably damaging	Het
Napg	A	T	18: 62,978,020	K18*	probably null	Het
Ndst3	A	T	3: 123,561,907	W573R	probably damaging	Het
Nin	T	C	12: 70,030,918	S1038G	possibly damaging	Het
Nudt12	T	A	17: 59,010,284	R123*	probably null	Het
Oas1g	T	A	5: 120,877,018	N361Y	probably benign	Het
Olfr1100	A	T	2: 86,978,442	M118K	probably damaging	Het
Olfr1351	T	A	10: 79,017,357	F12I	possibly damaging	Het
Olfr470	T	A	7: 107,845,170	I188L	probably benign	Het
Osbpl10	T	C	9: 115,226,760	F667L	probably damaging	Het
Phldb2	T	C	16: 45,801,625	D664G	probably damaging	Het
Piezo2	C	T	18: 63,027,901	V2263M	probably damaging	Het
Pkd1l1	A	G	11: 8,908,688	L615P	probably damaging	Het
Pnpla7	G	A	2: 25,011,649	M562I	probably benign	Het
Ppp1r13b	C	A	12: 111,844,989	R155L	probably damaging	Het
Pygb	C	T	2: 150,786,878	P4L	probably benign	Het
Rbm44	T	C	1: 91,156,840		probably null	Het
Rilpl2	T	C	5: 124,469,813	T115A	probably benign	Het
Rin3	A	G	12: 102,389,843	Y801C	probably damaging	Het
Rnf182	A	G	13: 43,668,087	E38G	probably benign	Het
Scgb2b24	T	A	7: 33,737,405	Y94F	probably damaging	Het
Serac1	C	A	17: 6,043,913		probably benign	Het
Slc6a19	A	T	13: 73,684,368	V402D	probably damaging	Het
Slco2b1	T	A	7: 99,667,094	M410L	probably benign	Het
Smarca2	T	C	19: 26,776,069		probably benign	Het
Sned1	A	G	1: 93,265,345	Y409C	probably damaging	Het
Sorcs2	A	G	5: 36,229,211	V161A	probably damaging	Het
Sptb	T	C	12: 76,598,727	E2029G	possibly damaging	Het
Stx7	T	A	10: 24,182,761		probably null	Het
Taf4b	T	C	18: 14,804,554	V228A	probably benign	Het
Tbc1d1	A	G	5: 64,349,930	*1163W	probably null	Het
Tor4a	G	A	2: 25,194,835	A352V	probably damaging	Het
Trpm4	A	G	7: 45,327,749	F81S	probably damaging	Het
Ttn	T	A	2: 76,950,092	D1105V	probably damaging	Het
Zfp551	A	G	7: 12,416,174	L436P	probably damaging	Het
Zfp975	G	T	7: 42,662,888	D100E	probably benign	Het
Zswim3	A	G	2: 164,820,112	I171V	probably benign	Het
Zwint	C	T	10: 72,656,462		probably benign	Het

Other mutations in Rnf112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Rnf112	APN	11	61452784	missense	probably damaging	1.00
IGL01339:Rnf112	APN	11	61450477	missense	probably benign	0.00
IGL01469:Rnf112	APN	11	61451341	missense	possibly damaging	0.94
IGL02102:Rnf112	APN	11	61452015	missense	probably benign	0.36
IGL02216:Rnf112	APN	11	61449978	missense	probably damaging	1.00
IGL02431:Rnf112	APN	11	61450379	missense	probably benign	0.17
IGL02638:Rnf112	APN	11	61449405	utr 3 prime	probably benign
IGL02657:Rnf112	APN	11	61450252	splice site	probably null
R0041:Rnf112	UTSW	11	61452355	missense	probably damaging	1.00
R1514:Rnf112	UTSW	11	61450410	missense	probably benign	0.01
R1991:Rnf112	UTSW	11	61452426	missense	probably damaging	1.00
R2119:Rnf112	UTSW	11	61451028	missense	possibly damaging	0.92
R2216:Rnf112	UTSW	11	61452279	missense	probably damaging	1.00
R2880:Rnf112	UTSW	11	61450467	missense	possibly damaging	0.89
R3775:Rnf112	UTSW	11	61450185	splice site	probably benign
R3904:Rnf112	UTSW	11	61450385	missense	probably damaging	1.00
R4646:Rnf112	UTSW	11	61452110	missense	probably damaging	0.99
R4710:Rnf112	UTSW	11	61449831	missense	probably damaging	1.00
R4860:Rnf112	UTSW	11	61452744	missense	possibly damaging	0.67
R4860:Rnf112	UTSW	11	61452744	missense	possibly damaging	0.67
R4894:Rnf112	UTSW	11	61452662	missense	probably damaging	1.00
R4930:Rnf112	UTSW	11	61453465	missense	probably benign
R4967:Rnf112	UTSW	11	61452926	splice site	probably benign
R4992:Rnf112	UTSW	11	61452711	missense	possibly damaging	0.72
R5547:Rnf112	UTSW	11	61451028	missense	possibly damaging	0.92
R5997:Rnf112	UTSW	11	61451022	missense	possibly damaging	0.87
R6023:Rnf112	UTSW	11	61449729	missense	probably damaging	1.00
R6906:Rnf112	UTSW	11	61450389	missense	probably null	0.38
R7194:Rnf112	UTSW	11	61450857	missense	probably damaging	1.00
R7439:Rnf112	UTSW	11	61451028	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TTCTGGACCCACCGTAAACC -3'
(R):5'- ACACAATGCGCTTCTGTGG -3'

Sequencing Primer
(F):5'- CCCCAGCTCAGCCAGTG -3'
(R):5'- GCTTCTGTGGCCACCTG -3'

Posted On

2017-02-10