Mutagenetix > Incidental Mutation

Incidental Mutation 'R7984:Rnf112'

651384

Institutional Source

Beutler Lab

Gene Symbol

Rnf112

Ensembl Gene

ENSMUSG00000010086

Gene Name

ring finger protein 112

Synonyms

Zfp179, neurolastin, bfp

MMRRC Submission

046025-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7984 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61339268-61344957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61340306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 656 (V656A)

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: V631A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086
AA Change: V631A

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: V656A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086
AA Change: V656A

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: V608A

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

SMART Domains

Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086
AA Change: V608A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (58/58)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1e1	G	T	13: 4,645,679 (GRCm39)	H226N	probably damaging	Het
Aldh1a7	T	C	19: 20,686,764 (GRCm39)	D283G	probably damaging	Het
Angel1	T	C	12: 86,767,068 (GRCm39)	D436G	probably benign	Het
Ank1	G	A	8: 23,578,982 (GRCm39)	R314Q	probably damaging	Het
Apbb2	T	C	5: 66,465,035 (GRCm39)	E629G	probably damaging	Het
Card9	T	G	2: 26,246,784 (GRCm39)	I355L	probably benign	Het
Cdon	C	T	9: 35,414,598 (GRCm39)	P1158S	probably benign	Het
Cpne7	T	G	8: 123,846,461 (GRCm39)	V91G	possibly damaging	Het
Dlc1	T	A	8: 37,405,472 (GRCm39)	T106S	possibly damaging	Het
Dnah1	A	T	14: 30,989,772 (GRCm39)	F3248Y	probably damaging	Het
Dnah7a	A	T	1: 53,543,377 (GRCm39)	D2264E	probably benign	Het
Dock7	A	T	4: 98,877,303 (GRCm39)	N1078K	unknown	Het
Emc1	T	A	4: 139,102,760 (GRCm39)	L973H	probably damaging	Het
Fer1l5	T	A	1: 36,447,702 (GRCm39)	L955Q	possibly damaging	Het
Fpr-rs7	T	C	17: 20,333,671 (GRCm39)	N273S	probably benign	Het
Gle1	T	A	2: 29,828,588 (GRCm39)	Y137N	probably damaging	Het
Grik4	G	A	9: 42,582,557 (GRCm39)	Q130*	probably null	Het
Hcn1	C	T	13: 118,112,609 (GRCm39)	Q858*	probably null	Het
Heg1	A	C	16: 33,583,945 (GRCm39)	S76R	possibly damaging	Het
Ikbke	T	A	1: 131,203,523 (GRCm39)	E50V	probably null	Het
Itga5	G	A	15: 103,264,379 (GRCm39)	P297S	probably damaging	Het
Kcng1	C	A	2: 168,104,406 (GRCm39)	R480L	possibly damaging	Het
Kdm3b	G	T	18: 34,956,752 (GRCm39)	E1236*	probably null	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lrp5	A	G	19: 3,662,342 (GRCm39)	F894L	probably damaging	Het
Lrrk1	T	C	7: 65,950,477 (GRCm39)		probably null	Het
Man2a2	T	G	7: 80,003,056 (GRCm39)	T1018P	probably damaging	Het
Mctp2	T	C	7: 71,752,937 (GRCm39)	Q772R	possibly damaging	Het
Meioc	T	A	11: 102,565,432 (GRCm39)	N293K	possibly damaging	Het
Mrps24	A	T	11: 5,657,495 (GRCm39)	C34S	possibly damaging	Het
Nek1	G	T	8: 61,574,087 (GRCm39)	E1112*	probably null	Het
Nt5dc2	A	G	14: 30,860,775 (GRCm39)	S317G	probably damaging	Het
Obscn	G	T	11: 58,997,151 (GRCm39)	Q1492K	possibly damaging	Het
Or2a57	T	G	6: 43,212,730 (GRCm39)	S63A	probably damaging	Het
Or52e4	T	C	7: 104,705,639 (GRCm39)	F62S	probably damaging	Het
Or6c69	A	G	10: 129,747,941 (GRCm39)	F69L	probably benign	Het
Or8b36	A	G	9: 37,937,155 (GRCm39)	T18A	probably damaging	Het
Or9m1b	T	A	2: 87,836,969 (GRCm39)	N42I	probably damaging	Het
Or9s23	A	G	1: 92,501,144 (GRCm39)	I84V	probably benign	Het
P2ry12	T	A	3: 59,125,022 (GRCm39)	I218F	probably damaging	Het
Paip1	C	T	13: 119,566,698 (GRCm39)	Q11*	probably null	Het
Pcdhga3	C	A	18: 37,809,549 (GRCm39)	D667E	probably benign	Het
Pcnx2	T	G	8: 126,485,865 (GRCm39)	E1911A	probably benign	Het
Pibf1	T	C	14: 99,459,063 (GRCm39)	L678P	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Prickle2	T	C	6: 92,387,855 (GRCm39)	T516A	probably benign	Het
Prl2c1	G	A	13: 28,039,310 (GRCm39)		probably null	Het
Siglecf	A	C	7: 43,004,655 (GRCm39)		probably null	Het
Slc24a1	A	T	9: 64,856,811 (GRCm39)	L32*	probably null	Het
Slc7a1	A	G	5: 148,278,920 (GRCm39)	V284A	possibly damaging	Het
Slco5a1	T	A	1: 12,951,608 (GRCm39)	H565L	probably damaging	Het
Slit2	A	G	5: 48,333,465 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,929,497 (GRCm39)	T255A	probably benign	Het
Tmem130	C	T	5: 144,692,237 (GRCm39)	G56R	possibly damaging	Het
Trmt1l	A	C	1: 151,311,489 (GRCm39)	Q116H	probably benign	Het
Ttn	A	T	2: 76,554,094 (GRCm39)	W30870R	probably damaging	Het
Unc13b	A	T	4: 43,173,973 (GRCm39)	L1600F	unknown	Het
Vmn1r233	C	T	17: 21,214,417 (GRCm39)	V178M	probably damaging	Het
Vmn2r18	G	A	5: 151,485,526 (GRCm39)	P656L	probably damaging	Het
Vmn2r33	A	T	7: 7,566,862 (GRCm39)	D83E	probably benign	Het
Vps13b	G	A	15: 35,880,059 (GRCm39)	V3045I	probably benign	Het
Wdr25	A	T	12: 108,976,983 (GRCm39)		probably null	Het
Xpo6	A	G	7: 125,719,616 (GRCm39)	V591A	probably benign	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
R2119:Rnf112	UTSW	11	61,341,854 (GRCm39)	missense	possibly damaging	0.92
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
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'- GTTTGACATGGGGCATTCAAC -3'
(R):5'- GACTCCTACACAATGCGCTTC -3'

Sequencing Primer
(F):5'- CAAGGCCAGTATATACGTGGTCC -3'
(R):5'- ACACAATGCGCTTCTGTGG -3'

Posted On

2020-09-15