Mutagenetix > Incidental Mutation

Incidental Mutation 'R6023:Rnf112'

479050

Institutional Source

Beutler Lab

Gene Symbol

Rnf112

Ensembl Gene

ENSMUSG00000010086

Gene Name

ring finger protein 112

Synonyms

Zfp179, bfp

MMRRC Submission

044195-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6023 (G1)

Quality Score

199.009

Status

Validated

Chromosome

Chromosomal Location

61448442-61454131 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61449729 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 525 (E525V)

Ref Sequence

ENSEMBL: ENSMUSP00000099722 (fasta)

Gene Model

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

AlphaFold

Q96DY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000054927
AA Change: E548V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086
AA Change: E548V

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

probably damaging
Transcript: ENSMUST00000060255
AA Change: E573V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086
AA Change: E573V

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: E525V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086
AA Change: E525V

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

0.1762

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,108,419	N1302S	possibly damaging	Het
Aff3	A	T	1: 38,218,370	S424T	probably damaging	Het
Ap2b1	C	T	11: 83,335,398	T207M	probably damaging	Het
Appl2	T	C	10: 83,648,529	Q18R	probably null	Het
Atrn	T	C	2: 131,020,980	F1327L	probably benign	Het
Birc6	A	T	17: 74,654,377	I47F	probably benign	Het
Cdh23	A	T	10: 60,465,542	I451N	probably damaging	Het
Clec3a	A	G	8: 114,418,143	T20A	possibly damaging	Het
Cpz	T	A	5: 35,512,578	I252F	probably benign	Het
Ctc1	A	G	11: 69,022,607	D143G	probably benign	Het
Dhrs1	A	T	14: 55,743,670	Y94*	probably null	Het
Dnajc25	A	G	4: 59,013,752	K157E	possibly damaging	Het
Dpp6	T	C	5: 27,723,547	I789T	probably damaging	Het
Duox1	T	G	2: 122,337,684	F1097V	probably benign	Het
Ercc8	A	G	13: 108,178,577	T242A	probably damaging	Het
Evc2	T	A	5: 37,348,616	M93K	probably benign	Het
Glra1	A	T	11: 55,533,853	V94E	probably damaging	Het
Got1l1	A	T	8: 27,199,904	Y151*	probably null	Het
Hcrtr2	T	A	9: 76,230,604	I410F	probably benign	Het
Ighv1-72	T	A	12: 115,757,912		probably benign	Het
Kel	C	A	6: 41,697,475	E340D	probably benign	Het
Kif11	A	G	19: 37,390,710	E283G	probably damaging	Het
Klk4	T	G	7: 43,884,058	F114V	probably benign	Het
Krt7	T	C	15: 101,412,397		probably benign	Het
Lrrc74a	A	G	12: 86,758,606	I401V	probably damaging	Het
Luzp2	T	C	7: 55,058,067	S68P	possibly damaging	Het
Naip1	T	C	13: 100,426,186	T824A	probably benign	Het
Nav3	T	C	10: 109,823,515	Q747R	possibly damaging	Het
Olfr1212	A	G	2: 88,958,715	D83G	possibly damaging	Het
Olfr1342	T	A	4: 118,690,074	Y126F	probably damaging	Het
Olfr1477	A	G	19: 13,502,703	D120G	probably damaging	Het
Olfr339	A	G	2: 36,421,511	T38A	probably damaging	Het
Olfr566	T	C	7: 102,856,962	I107V	possibly damaging	Het
Olfr649	T	C	7: 104,189,673	H178R	probably damaging	Het
Olfr837	A	C	9: 19,137,725	H244P	probably damaging	Het
Pcdhb11	T	C	18: 37,422,925	I436T	possibly damaging	Het
Pfdn2	T	C	1: 171,356,751	Y65H	probably damaging	Het
Polr2h	T	C	16: 20,719,026	Y58H	probably benign	Het
Prrt4	G	A	6: 29,176,453	P291L	probably benign	Het
Psg29	G	T	7: 17,210,512	V316L	possibly damaging	Het
Sgms1	T	C	19: 32,124,373	K411R	probably benign	Het
Sh3tc1	T	A	5: 35,706,951	K631*	probably null	Het
Syne1	T	C	10: 5,443,223	M48V	probably benign	Het
Thrb	C	T	14: 18,011,209	T226I	probably damaging	Het
Trim67	A	T	8: 124,815,104	D347V	probably damaging	Het
Try4	T	C	6: 41,303,421	S60P	probably damaging	Het
Ttn	G	T	2: 76,735,400	L19876I	probably damaging	Het
Vars	C	T	17: 35,001,609	R56C	probably damaging	Het
Vmn1r9	A	G	6: 57,071,254	I105V	probably benign	Het
Vps8	C	A	16: 21,461,238	T313K	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
R5874:Rnf112	UTSW	11	61449447	missense	probably damaging	0.98
R5997:Rnf112	UTSW	11	61451022	missense	possibly damaging	0.87
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
R7984:Rnf112	UTSW	11	61449480	missense	possibly damaging	0.79
R8984:Rnf112	UTSW	11	61452451	missense	possibly damaging	0.90
R9756:Rnf112	UTSW	11	61449841	missense	probably damaging	1.00
Z1177:Rnf112	UTSW	11	61449679	missense	probably damaging	1.00
Z1186:Rnf112	UTSW	11	61450949	missense	unknown
Z1187:Rnf112	UTSW	11	61450949	missense	unknown
Z1188:Rnf112	UTSW	11	61450949	missense	unknown
Z1189:Rnf112	UTSW	11	61450949	missense	unknown
Z1190:Rnf112	UTSW	11	61450949	missense	unknown
Z1191:Rnf112	UTSW	11	61450949	missense	unknown
Z1192:Rnf112	UTSW	11	61450949	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTCTCCATGCAGCCCACAG -3'
(R):5'- TTCGAGGAGTACGTGAGACAGC -3'

Sequencing Primer
(F):5'- GCCCCAGCTGCTACCATC -3'
(R):5'- TGAGACAGCAGGTGAGCCTC -3'

Posted On

2017-06-26