Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02638:Rnf112'

301634

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnf112

Ensembl Gene

ENSMUSG00000010086

Gene Name

ring finger protein 112

Synonyms

Zfp179, bfp

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02638

Quality Score

Status

Chromosome

Chromosomal Location

61448442-61454131 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 61449405 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099722 (fasta)

Gene Model

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

AlphaFold

Q96DY5

Predicted Effect

probably benign
Transcript: ENSMUST00000054927

SMART Domains

Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086

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 benign
Transcript: ENSMUST00000060255

SMART Domains

Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086

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 benign
Transcript: ENSMUST00000102661

SMART Domains

Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086

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

Coding Region Coverage

Validation Efficiency

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
9530077C05Rik	A	T	9: 22,430,479	K149*	probably null	Het
A830010M20Rik	T	C	5: 107,508,556	V895A	possibly damaging	Het
Alkbh3	T	A	2: 94,008,113	T38S	probably benign	Het
BC055324	G	A	1: 163,959,299	Q734*	probably null	Het
Cdkn2c	A	G	4: 109,665,012		probably benign	Het
Clca4b	A	C	3: 144,926,178	C189G	probably damaging	Het
Clec4f	T	A	6: 83,652,700	N292I	possibly damaging	Het
Dkk3	A	C	7: 112,149,027	S123R	probably benign	Het
Dock1	C	T	7: 135,146,480	A1557V	probably benign	Het
E130308A19Rik	C	T	4: 59,719,676	Q403*	probably null	Het
F5	G	A	1: 164,184,608		probably null	Het
Fam98c	T	A	7: 29,152,762	D326V	probably damaging	Het
Frem2	A	C	3: 53,551,346	V2034G	possibly damaging	Het
Galnt2	G	A	8: 124,231,579	G18D	probably damaging	Het
Gm8394	T	C	10: 85,313,834		noncoding transcript	Het
Grhl3	T	C	4: 135,556,865	E222G	probably benign	Het
Hif3a	A	C	7: 17,044,368		probably benign	Het
Ibtk	C	T	9: 85,719,893	G755D	probably damaging	Het
Laptm4b	A	G	15: 34,277,484	N187S	probably benign	Het
Lrba	A	G	3: 86,325,073	T776A	probably damaging	Het
Mfhas1	T	A	8: 35,590,950	W860R	possibly damaging	Het
Mon2	A	C	10: 123,023,939	W811G	probably damaging	Het
Nupl2	A	G	5: 24,175,507	T167A	probably benign	Het
Olfr1062	T	C	2: 86,423,677		probably null	Het
Olfr1128	T	C	2: 87,544,749	Y265C	probably damaging	Het
Olfr1295	T	C	2: 111,564,904	D180G	probably damaging	Het
Olfr30	C	A	11: 58,455,047	A301S	probably damaging	Het
Olfr418	A	G	1: 173,270,331	D52G	probably benign	Het
Pgap2	T	C	7: 102,237,422	L217P	probably damaging	Het
Pik3c2b	T	G	1: 133,077,318		probably benign	Het
Ppfia3	T	A	7: 45,356,668	D149V	probably damaging	Het
Prkcb	C	T	7: 122,600,840		probably benign	Het
Prl	A	G	13: 27,061,579	D97G	probably benign	Het
Slc17a8	C	A	10: 89,576,603	G323*	probably null	Het
Snx19	T	C	9: 30,432,364	F607L	possibly damaging	Het
Suco	A	G	1: 161,827,687	S1079P	probably damaging	Het
Taf5	T	C	19: 47,068,210	L149P	probably benign	Het
Taf6l	T	C	19: 8,775,266	M379V	probably benign	Het
Tcf25	T	C	8: 123,399,292	F558L	probably damaging	Het
Tlcd1	T	C	11: 78,179,618	V102A	probably benign	Het
Tmc5	G	T	7: 118,627,233	A274S	probably benign	Het
Toporsl	C	T	4: 52,611,624	H506Y	probably benign	Het
Ubtd1	T	C	19: 42,033,670	L127P	possibly damaging	Het
Usp24	A	C	4: 106,438,770		probably benign	Het
Usp24	C	A	4: 106,438,772		probably benign	Het
Usp43	T	G	11: 67,855,755	D1042A	probably benign	Het
Whrn	T	C	4: 63,419,472	T48A	possibly damaging	Het
Wnt2b	A	G	3: 104,954,716	I102T	probably benign	Het
Zfp763	T	C	17: 33,019,934	D79G	probably benign	Het
Zmat4	A	G	8: 23,797,373	Y45C	probably damaging	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
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
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
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

Posted On

2015-04-16