Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00904:Rnf112'

28491

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00904

Quality Score

Status

Chromosome

Chromosomal Location

61448442-61454131 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 61452784 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 98 (D98E)

Ref Sequence

ENSEMBL: ENSMUSP00000059903 (fasta)

Gene Model

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

AlphaFold

Q96DY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000054927
AA Change: D98E

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

SMART Domains

Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086
AA Change: D98E

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: D98E

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

SMART Domains

Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086
AA Change: D98E

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: D75E

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

SMART Domains

Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086
AA Change: D75E

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	G	T	6: 86,946,153	G236C	probably damaging	Het
Abi1	C	T	2: 22,941,930	R404Q	possibly damaging	Het
Atp8b3	C	T	10: 80,528,764	G532R	probably damaging	Het
Bysl	C	T	17: 47,601,871	M331I	probably benign	Het
Cndp1	A	G	18: 84,611,665	S468P	probably benign	Het
Esd	A	G	14: 74,749,688	*266W	probably null	Het
F5	T	C	1: 164,194,009	V1351A	probably benign	Het
Fchsd2	A	G	7: 101,271,622	D454G	probably benign	Het
Fndc1	T	A	17: 7,756,363	M1415L	probably benign	Het
Ghr	T	A	15: 3,328,120	Y222F	probably benign	Het
Gm6583	G	A	5: 112,355,128	R237*	probably null	Het
Gtf3c2	C	T	5: 31,172,858	S299N	probably damaging	Het
Ice1	C	T	13: 70,602,289	D93N	probably damaging	Het
Ints7	T	A	1: 191,596,164		probably null	Het
Kif18a	A	G	2: 109,292,126	D182G	probably damaging	Het
Mcm9	A	T	10: 53,622,921	H308Q	possibly damaging	Het
Mesp2	A	G	7: 79,812,653	D319G	probably benign	Het
Mrpl55	T	A	11: 59,205,673	S84T	probably benign	Het
Mybpc3	T	C	2: 91,120,029	V123A	probably benign	Het
Myom1	T	C	17: 71,099,949		probably benign	Het
Nfia	C	T	4: 98,065,386	P325S	probably damaging	Het
Notch4	T	C	17: 34,575,561		probably null	Het
Npepps	A	C	11: 97,258,306	V130G	probably damaging	Het
Olfr1356	A	T	10: 78,847,763	S51T	probably damaging	Het
Pja2	G	T	17: 64,283,531	T669K	probably damaging	Het
Rsl1d1	G	A	16: 11,199,694	T136I	probably damaging	Het
Samsn1	A	T	16: 75,909,120		probably benign	Het
Slc6a9	T	C	4: 117,864,617	L280P	probably damaging	Het
Svep1	T	C	4: 58,097,398	N1382D	probably benign	Het
Vmn2r100	T	G	17: 19,526,000	C474G	probably damaging	Het
Vmn2r74	C	T	7: 85,957,580	R186H	probably benign	Het
Wdr7	T	C	18: 63,796,231	I1046T	probably benign	Het

Other mutations in Rnf112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-04-17