Mutagenetix > Incidental Mutation

Incidental Mutation 'R7903:Rnf103'

610079

Institutional Source

Beutler Lab

Gene Symbol

Rnf103

Ensembl Gene

ENSMUSG00000052656

Gene Name

ring finger protein 103

Synonyms

Zfp103, kf-1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R7903 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71493894-71510881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71509154 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 256 (K256N)

Ref Sequence

ENSEMBL: ENSMUSP00000066324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064637] [ENSMUST00000114178] [ENSMUST00000114179]

AlphaFold

Q9R1W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000064637
AA Change: K256N

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

SMART Domains

Protein: ENSMUSP00000066324
Gene: ENSMUSG00000052656
AA Change: K256N

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	326	348	N/A	INTRINSIC
transmembrane domain	353	375	N/A	INTRINSIC
transmembrane domain	412	431	N/A	INTRINSIC
low complexity region	523	531	N/A	INTRINSIC
RING	619	660	5.07e-6	SMART
low complexity region	665	676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114178

SMART Domains

Protein: ENSMUSP00000109816
Gene: ENSMUSG00000052656

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	162	173	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114179
AA Change: K256N

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

SMART Domains

Protein: ENSMUSP00000109817
Gene: ENSMUSG00000052656
AA Change: K256N

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
transmembrane domain	326	348	N/A	INTRINSIC
transmembrane domain	353	375	N/A	INTRINSIC
transmembrane domain	412	431	N/A	INTRINSIC
low complexity region	523	531	N/A	INTRINSIC
RING	619	660	5.07e-6	SMART
low complexity region	665	676	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: This gene encodes a member of the RING finger family of E3 ubiquitin-protein ligases. These proteins catalyze the transfer of the ubiquitin protein from a ubiquitin E2 enzyme to a protein substrate. Homozygous knockout mice for this gene exhibit enhanced anxiety-like behavior. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display significantly increased anxiety-like behavior under stressful conditions as well as increased prepulse inhibition and a reduced startle amplitude with no detectable changes in exploratory locomotion or behavioral despair. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	T	C	18: 24,475,726		probably null	Het
Acsm2	A	T	7: 119,595,992	T596S	probably benign	Het
Aggf1	T	C	13: 95,356,458	K548E	probably damaging	Het
Anapc15	T	G	7: 101,897,986	V23G	probably benign	Het
Atp10a	T	C	7: 58,658,822	L123P	probably damaging	Het
Brf2	G	A	8: 27,126,093	T88M	possibly damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Ccdc14	A	T	16: 34,704,910	H191L	probably damaging	Het
Cdc42bpg	T	A	19: 6,313,469	V453E	possibly damaging	Het
Corin	T	C	5: 72,301,500	K1110E	probably benign	Het
Cubn	T	C	2: 13,468,869	D421G	probably damaging	Het
D130043K22Rik	T	G	13: 24,876,012	V622G	probably damaging	Het
Ddb1	T	C	19: 10,608,348	V142A	probably benign	Het
Dnah3	A	G	7: 120,042,128	S1190P	probably damaging	Het
Elavl1	T	C	8: 4,301,756	K120R	probably benign	Het
Epb41l3	T	A	17: 69,274,337		probably null	Het
Fubp1	G	A	3: 152,214,861	W79*	probably null	Het
Gm1673	T	A	5: 33,983,566		probably null	Het
Gm4869	T	C	5: 140,476,012	V523A	probably damaging	Het
Gm5580	A	G	6: 116,551,251	T30A	probably benign	Het
Gsto2	T	A	19: 47,884,657	I157N	possibly damaging	Het
Gucy2d	A	G	7: 98,459,065	D735G	probably damaging	Het
H2-D1	A	T	17: 35,263,991	I166F	probably damaging	Het
Hars2	C	A	18: 36,786,192	R128S	probably damaging	Het
Igf1r	T	C	7: 68,184,752	F496S	probably damaging	Het
Inf2	T	C	12: 112,612,554	V1256A	unknown	Het
Krt34	A	T	11: 100,041,495	M1K	probably null	Het
Lamtor2	T	C	3: 88,552,510	N26D	possibly damaging	Het
Map3k10	T	C	7: 27,657,957	T799A	probably damaging	Het
Map3k8	T	C	18: 4,349,162	D52G	probably benign	Het
Mcm10	T	C	2: 4,995,802	T693A	probably benign	Het
Mgarp	G	T	3: 51,396,698	A10E		Het
Mns1	A	T	9: 72,452,811	E414D	probably benign	Het
Myo16	A	G	8: 10,376,265	S341G	probably null	Het
Nags	A	T	11: 102,146,677	D198V	possibly damaging	Het
Nedd4l	C	T	18: 65,186,367	P464S	probably damaging	Het
Nsfl1c	T	C	2: 151,496,602	Y42H	probably damaging	Het
Obscn	T	C	11: 59,079,116	M67V	probably benign	Het
Olfr1367	T	A	13: 21,347,876	I316K	probably benign	Het
Pcsk5	A	T	19: 17,572,483	L715Q	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,709,168		probably benign	Het
Pfkfb4	A	T	9: 108,998,951	N64Y	probably damaging	Het
Pidd1	A	G	7: 141,439,831	F673L	probably damaging	Het
Pla2g7	A	G	17: 43,600,621		probably null	Het
Pml	T	C	9: 58,249,584	E36G	probably benign	Het
Proser1	C	A	3: 53,479,082	S795*	probably null	Het
Ptprs	T	A	17: 56,424,960	K1016*	probably null	Het
Rbfox1	T	A	16: 7,224,511	S76R	probably benign	Het
Reck	A	T	4: 43,927,166	I486F	possibly damaging	Het
Setd2	A	T	9: 110,617,837	N713I		Het
Slc38a4	C	T	15: 97,008,928	G310S	probably benign	Het
Slc7a4	C	T	16: 17,575,281	R218H	probably benign	Het
Slc7a7	T	C	14: 54,373,909	H344R	probably damaging	Het
Smarcc1	G	A	9: 110,204,266	E810K	probably benign	Het
Sord	T	A	2: 122,263,225	M275K	probably benign	Het
Spire2	C	A	8: 123,368,750	P631T	probably benign	Het
Sult6b1	T	C	17: 78,890,850	K207R	probably benign	Het
Syde2	T	A	3: 145,998,788	D498E	probably damaging	Het
Syne2	C	T	12: 76,064,184	T1024M	probably damaging	Het
Tdrd9	T	A	12: 112,051,976	D1276E	possibly damaging	Het
Tm7sf2	A	G	19: 6,071,335	F219S	probably damaging	Het
Tmcc2	C	T	1: 132,360,461	G496D	probably benign	Het
Tmtc4	G	A	14: 122,927,648	H600Y	probably benign	Het
Vmn1r224	A	T	17: 20,420,047	L295F	probably benign	Het
Vmn1r91	T	C	7: 20,101,210	I18T	possibly damaging	Het
Vwa7	G	A	17: 35,017,787	R110H	probably damaging	Het
Wbp2nl	C	T	15: 82,306,131	Q87*	probably null	Het

Other mutations in Rnf103

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Rnf103	APN	6	71509749	missense	probably damaging	0.99
IGL00589:Rnf103	APN	6	71509083	missense	probably benign	0.00
IGL01601:Rnf103	APN	6	71509183	missense	probably damaging	1.00
IGL01732:Rnf103	APN	6	71510382	missense	probably damaging	0.97
IGL02130:Rnf103	APN	6	71509564	missense	probably damaging	1.00
IGL02227:Rnf103	APN	6	71510188	missense	probably benign	0.01
IGL02386:Rnf103	APN	6	71509218	missense	probably benign
IGL02532:Rnf103	APN	6	71509825	missense	probably benign	0.19
IGL02532:Rnf103	APN	6	71509652	missense	probably damaging	0.96
IGL02747:Rnf103	APN	6	71509177	missense	probably damaging	0.97
IGL02839:Rnf103	APN	6	71509705	missense	probably benign	0.41
IGL03247:Rnf103	APN	6	71510305	missense	possibly damaging	0.78
R0140:Rnf103	UTSW	6	71509331	missense	possibly damaging	0.76
R0308:Rnf103	UTSW	6	71509702	missense	probably damaging	1.00
R0764:Rnf103	UTSW	6	71509582	missense	probably damaging	0.96
R1428:Rnf103	UTSW	6	71508999	missense	probably damaging	1.00
R2362:Rnf103	UTSW	6	71510017	missense	probably benign	0.08
R3847:Rnf103	UTSW	6	71508875	missense	probably damaging	1.00
R3849:Rnf103	UTSW	6	71508875	missense	probably damaging	1.00
R3919:Rnf103	UTSW	6	71510347	missense	probably benign	0.08
R4914:Rnf103	UTSW	6	71510264	missense	possibly damaging	0.71
R5620:Rnf103	UTSW	6	71510008	missense	probably benign	0.04
R5634:Rnf103	UTSW	6	71509617	missense	probably benign	0.01
R5682:Rnf103	UTSW	6	71508724	intron	probably benign
R5791:Rnf103	UTSW	6	71508925	missense	probably damaging	0.99
R5994:Rnf103	UTSW	6	71496910	missense	probably damaging	0.99
R6347:Rnf103	UTSW	6	71505824	missense	possibly damaging	0.89
R6551:Rnf103	UTSW	6	71510365	missense	probably damaging	1.00
R7739:Rnf103	UTSW	6	71509479	missense	possibly damaging	0.77
R7819:Rnf103	UTSW	6	71508930	missense	probably benign	0.00
R8750:Rnf103	UTSW	6	71509618	missense	probably benign	0.11
R8784:Rnf103	UTSW	6	71509998	missense	probably benign	0.03
R8974:Rnf103	UTSW	6	71509108	missense	probably damaging	0.98
R9154:Rnf103	UTSW	6	71510115	missense	probably benign	0.06
R9505:Rnf103	UTSW	6	71510065	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTTAAAGAGTACAGTGGACGC -3'
(R):5'- ACTTCAGGTTGTAATGAGCGC -3'

Sequencing Primer
(F):5'- AGTACAGTGGACGCAAGATTG -3'
(R):5'- CGCAGAAATGAATCCATGGCCTG -3'

Posted On

2019-12-20