Mutagenetix > Incidental Mutation

Incidental Mutation 'R2119:Rnf112'

231308

Institutional Source

Beutler Lab

Gene Symbol

Rnf112

Ensembl Gene

ENSMUSG00000010086

Gene Name

ring finger protein 112

Synonyms

Zfp179, neurolastin, bfp

MMRRC Submission

040123-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61339268-61344957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 61341854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 317 (V317I)

Ref Sequence

ENSEMBL: ENSMUSP00000059903 (fasta)

Gene Model

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

AlphaFold

Q96DY5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054927
AA Change: V317I

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086
AA Change: V317I

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: V317I

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086
AA Change: V317I

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

possibly damaging
Transcript: ENSMUST00000102661
AA Change: V294I

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086
AA Change: V294I

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

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Actbl2	G	A	13: 111,391,694 (GRCm39)	V10I	probably benign	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Aifm2	G	A	10: 61,571,383 (GRCm39)	V306M	possibly damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Atxn7l3	C	A	11: 102,182,807 (GRCm39)	R278L	possibly damaging	Het
Bcl9	A	G	3: 97,116,231 (GRCm39)	L821P	probably benign	Het
Cdh19	C	T	1: 110,847,320 (GRCm39)	V430I	probably benign	Het
Clns1a	T	A	7: 97,363,111 (GRCm39)		probably null	Het
Col3a1	T	A	1: 45,385,281 (GRCm39)	C133S	probably damaging	Het
Csmd1	G	A	8: 17,266,749 (GRCm39)	T59I	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Cyp2j8	A	T	4: 96,395,438 (GRCm39)	D62E	probably benign	Het
Dcbld1	A	T	10: 52,196,075 (GRCm39)	M428L	probably benign	Het
Dhx32	A	T	7: 133,323,976 (GRCm39)	Y523*	probably null	Het
Dlgap2	C	T	8: 14,828,206 (GRCm39)	A538V	possibly damaging	Het
Dlgap3	T	C	4: 127,129,982 (GRCm39)	S919P	probably benign	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsc1	A	T	18: 20,243,209 (GRCm39)	H81Q	probably benign	Het
Dusp8	A	T	7: 141,636,298 (GRCm39)	S431T	possibly damaging	Het
Dync1i1	A	T	6: 5,767,096 (GRCm39)	T59S	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Eef1d	G	T	15: 75,775,062 (GRCm39)	A199E	probably benign	Het
Eml3	T	A	19: 8,911,718 (GRCm39)		probably null	Het
Enah	G	T	1: 181,749,318 (GRCm39)	A138E	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gba1	A	T	3: 89,112,868 (GRCm39)	E170V	probably benign	Het
Hdac1	C	T	4: 129,416,157 (GRCm39)	R212Q	probably benign	Het
Heatr1	T	A	13: 12,447,527 (GRCm39)	L1740Q	probably null	Het
Inhbb	T	A	1: 119,348,431 (GRCm39)	H129L	probably benign	Het
Inpp5b	T	A	4: 124,691,662 (GRCm39)	H862Q	probably benign	Het
Itsn2	C	A	12: 4,757,025 (GRCm39)	R1372S	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Klk1b21	A	T	7: 43,755,193 (GRCm39)	T163S	probably benign	Het
Lmo3	A	T	6: 138,393,492 (GRCm39)	C43S	probably damaging	Het
Metrn	C	T	17: 26,014,197 (GRCm39)	V210I	probably benign	Het
Ndufaf7	A	T	17: 79,252,442 (GRCm39)	I284F	possibly damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or10a5	A	G	7: 106,635,938 (GRCm39)	D192G	probably damaging	Het
Osbpl7	T	C	11: 96,946,905 (GRCm39)	S403P	probably benign	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	T	A	5: 22,223,998 (GRCm39)	E917V	probably damaging	Het
Rfc4	A	T	16: 22,943,314 (GRCm39)	V61E	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Rtn4ip1	A	G	10: 43,811,993 (GRCm39)		probably null	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Serhl	A	G	15: 82,999,776 (GRCm39)	Q252R	probably benign	Het
Sestd1	T	C	2: 77,042,867 (GRCm39)	D229G	probably benign	Het
Slc35g1	T	C	19: 38,391,735 (GRCm39)	V339A	probably benign	Het
Slc9b2	T	A	3: 135,034,743 (GRCm39)		probably null	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tep1	T	G	14: 51,076,443 (GRCm39)	K1664Q	probably benign	Het
Tmod2	T	C	9: 75,493,377 (GRCm39)	K193E	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Ttc5	A	T	14: 51,012,822 (GRCm39)	Y189N	probably damaging	Het
Ugt2a3	A	T	5: 87,484,430 (GRCm39)	M198K	probably damaging	Het
Uox	A	G	3: 146,318,297 (GRCm39)	H66R	probably benign	Het
Usp9y	A	T	Y: 1,303,451 (GRCm39)	D2487E	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Vps11	T	C	9: 44,260,294 (GRCm39)	D856G	probably benign	Het
Zdhhc17	T	C	10: 110,817,909 (GRCm39)	N90D	possibly damaging	Het
Zfp105	T	A	9: 122,758,743 (GRCm39)	L138*	probably null	Het
Zfp28	A	G	7: 6,397,875 (GRCm39)	Y770C	probably benign	Het
Zfp655	T	A	5: 145,181,594 (GRCm39)	L484Q	probably damaging	Het
Zfp868	C	A	8: 70,064,646 (GRCm39)	E230*	probably null	Het
Zfpm2	A	G	15: 40,966,419 (GRCm39)	Y836C	probably damaging	Het

Other mutations in Rnf112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Rnf112	APN	11	61,343,610 (GRCm39)	missense	probably damaging	1.00
IGL01339:Rnf112	APN	11	61,341,303 (GRCm39)	missense	probably benign	0.00
IGL01469:Rnf112	APN	11	61,342,167 (GRCm39)	missense	possibly damaging	0.94
IGL02102:Rnf112	APN	11	61,342,841 (GRCm39)	missense	probably benign	0.36
IGL02216:Rnf112	APN	11	61,340,804 (GRCm39)	missense	probably damaging	1.00
IGL02431:Rnf112	APN	11	61,341,205 (GRCm39)	missense	probably benign	0.17
IGL02638:Rnf112	APN	11	61,340,231 (GRCm39)	utr 3 prime	probably benign
IGL02657:Rnf112	APN	11	61,341,078 (GRCm39)	splice site	probably null
R0041:Rnf112	UTSW	11	61,343,181 (GRCm39)	missense	probably damaging	1.00
R1514:Rnf112	UTSW	11	61,341,236 (GRCm39)	missense	probably benign	0.01
R1991:Rnf112	UTSW	11	61,343,252 (GRCm39)	missense	probably damaging	1.00
R2216:Rnf112	UTSW	11	61,343,105 (GRCm39)	missense	probably damaging	1.00
R2880:Rnf112	UTSW	11	61,341,293 (GRCm39)	missense	possibly damaging	0.89
R3775:Rnf112	UTSW	11	61,341,011 (GRCm39)	splice site	probably benign
R3904:Rnf112	UTSW	11	61,341,211 (GRCm39)	missense	probably damaging	1.00
R4646:Rnf112	UTSW	11	61,342,936 (GRCm39)	missense	probably damaging	0.99
R4710:Rnf112	UTSW	11	61,340,657 (GRCm39)	missense	probably damaging	1.00
R4860:Rnf112	UTSW	11	61,343,570 (GRCm39)	missense	possibly damaging	0.67
R4860:Rnf112	UTSW	11	61,343,570 (GRCm39)	missense	possibly damaging	0.67
R4894:Rnf112	UTSW	11	61,343,488 (GRCm39)	missense	probably damaging	1.00
R4930:Rnf112	UTSW	11	61,344,291 (GRCm39)	missense	probably benign
R4967:Rnf112	UTSW	11	61,343,752 (GRCm39)	splice site	probably benign
R4992:Rnf112	UTSW	11	61,343,537 (GRCm39)	missense	possibly damaging	0.72
R5547:Rnf112	UTSW	11	61,341,854 (GRCm39)	missense	possibly damaging	0.92
R5874:Rnf112	UTSW	11	61,340,273 (GRCm39)	missense	probably damaging	0.98
R5997:Rnf112	UTSW	11	61,341,848 (GRCm39)	missense	possibly damaging	0.87
R6023:Rnf112	UTSW	11	61,340,555 (GRCm39)	missense	probably damaging	1.00
R6906:Rnf112	UTSW	11	61,341,215 (GRCm39)	missense	probably null	0.38
R7194:Rnf112	UTSW	11	61,341,683 (GRCm39)	missense	probably damaging	1.00
R7439:Rnf112	UTSW	11	61,341,854 (GRCm39)	missense	possibly damaging	0.92
R7984:Rnf112	UTSW	11	61,340,306 (GRCm39)	missense	possibly damaging	0.79
R8984:Rnf112	UTSW	11	61,343,277 (GRCm39)	missense	possibly damaging	0.90
R9756:Rnf112	UTSW	11	61,340,667 (GRCm39)	missense	probably damaging	1.00
Z1177:Rnf112	UTSW	11	61,340,505 (GRCm39)	missense	probably damaging	1.00
Z1186:Rnf112	UTSW	11	61,341,775 (GRCm39)	missense	unknown
Z1187:Rnf112	UTSW	11	61,341,775 (GRCm39)	missense	unknown
Z1188:Rnf112	UTSW	11	61,341,775 (GRCm39)	missense	unknown
Z1189:Rnf112	UTSW	11	61,341,775 (GRCm39)	missense	unknown
Z1190:Rnf112	UTSW	11	61,341,775 (GRCm39)	missense	unknown
Z1191:Rnf112	UTSW	11	61,341,775 (GRCm39)	missense	unknown
Z1192:Rnf112	UTSW	11	61,341,775 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGAGTATGTCACCCACGTG -3'
(R):5'- AAATCATGGCTTCCCTTTCAGG -3'

Sequencing Primer
(F):5'- GCCCTTGCCCTGACTTATTATGATG -3'
(R):5'- CATGGCTTCCCTTTCAGGTTTAGAG -3'

Posted On

2014-09-18