Mutagenetix > Incidental Mutation

Incidental Mutation 'R5634:Rnf103'

440026

Institutional Source

Beutler Lab

Gene Symbol

Rnf103

Ensembl Gene

ENSMUSG00000052656

Gene Name

ring finger protein 103

Synonyms

Zfp103, kf-1

MMRRC Submission

043285-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R5634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71493894-71510881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71509617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 411 (M411V)

Ref Sequence

ENSEMBL: ENSMUSP00000109817 (fasta)

Gene Model

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

AlphaFold

Q9R1W3

Predicted Effect

probably benign
Transcript: ENSMUST00000064637
AA Change: M411V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000066324
Gene: ENSMUSG00000052656
AA Change: M411V

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 benign
Transcript: ENSMUST00000114179
AA Change: M411V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000109817
Gene: ENSMUSG00000052656
AA Change: M411V

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

noncoding transcript
Transcript: ENSMUST00000150069

Meta Mutation Damage Score

0.1306

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (60/61)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	C	9: 53,583,621		probably benign	Het
Aen	A	T	7: 78,902,507	T34S	probably benign	Het
Apoh	T	A	11: 108,412,049	V280E	probably damaging	Het
Ccdc87	A	G	19: 4,840,665	H395R	probably benign	Het
Ccrl2	T	A	9: 111,055,987		probably null	Het
Cdh20	T	C	1: 104,975,075	F497S	probably damaging	Het
Cfap54	C	A	10: 92,904,263		probably benign	Het
Cipc	T	A	12: 86,952,975		probably null	Het
Col14a1	T	A	15: 55,518,298	Y1756N	probably damaging	Het
Cyp2c54	G	A	19: 40,072,414	A95V	possibly damaging	Het
Dcdc5	A	G	2: 106,403,980		noncoding transcript	Het
Dnah17	T	C	11: 118,052,926		probably null	Het
Eepd1	A	T	9: 25,603,553	N552I	probably benign	Het
Eif2ak4	A	T	2: 118,462,311	R1218W	probably damaging	Het
Fbxw18	T	A	9: 109,676,803	I467F	possibly damaging	Het
Ffar4	GCTTCTT	GCTT	19: 38,113,925		probably benign	Het
Gm14025	A	T	2: 129,039,486	D173E	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm884	T	C	11: 103,542,014	N1267S	possibly damaging	Het
Gpha2	A	G	19: 6,226,860	T25A	probably benign	Het
Grin3a	T	A	4: 49,792,843	I297F	probably damaging	Het
Herc2	G	A	7: 56,206,783	G3924R	probably damaging	Het
Hmcn2	G	T	2: 31,333,881	D97Y	probably damaging	Het
Igdcc4	G	A	9: 65,134,546	G1131D	probably benign	Het
Il18rap	T	C	1: 40,539,376		probably benign	Het
Ino80d	C	A	1: 63,062,283		probably benign	Het
Klhl1	T	C	14: 96,240,271	T454A	probably damaging	Het
Krt84	C	A	15: 101,528,649	V360L	probably benign	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Mapkbp1	A	G	2: 119,973,095	N15S	probably damaging	Het
Med13l	T	C	5: 118,560,850	F22S	possibly damaging	Het
Mrc2	T	A	11: 105,336,214	C548*	probably null	Het
Nacad	T	C	11: 6,602,387	E268G	possibly damaging	Het
Nfxl1	A	G	5: 72,529,490	C527R	probably damaging	Het
Nphp1	A	T	2: 127,759,650	C412S	possibly damaging	Het
Odf3b	T	A	15: 89,378,207	T70S	probably benign	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1279	A	G	2: 111,307,092	I296V	probably benign	Het
Per2	C	T	1: 91,444,707	C215Y	probably benign	Het
Pias1	T	C	9: 62,895,973	T343A	probably benign	Het
Pja2	C	T	17: 64,292,867	V541M	probably damaging	Het
Plxna4	G	A	6: 32,237,723	Q608*	probably null	Het
Ppil4	T	A	10: 7,814,778	D398E	probably benign	Het
Ppp4r3a	T	A	12: 101,043,521	D8V	probably damaging	Het
Pstk	A	C	7: 131,371,343	D57A	probably damaging	Het
Ptprd	T	C	4: 76,072,018	I53V	probably benign	Het
Pyroxd2	A	G	19: 42,740,485	F159L	probably benign	Het
Scn4a	T	C	11: 106,330,004	D943G	probably benign	Het
Sdk2	T	C	11: 113,851,714	T790A	probably damaging	Het
Sfr1	T	C	19: 47,733,871	L242P	probably damaging	Het
Snx25	T	C	8: 46,041,391	D819G	possibly damaging	Het
Sult2b1	A	G	7: 45,734,082	V183A	probably damaging	Het
Tcf4	C	A	18: 69,636,847	S8R	possibly damaging	Het
Ttc7	A	G	17: 87,342,087	D531G	probably benign	Het
Uap1l1	A	C	2: 25,364,133	C271G	probably damaging	Het
Ubtf	T	C	11: 102,310,324	Y268C	probably damaging	Het
Zfp951	A	T	5: 104,815,289	M137K	probably benign	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
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
R7903:Rnf103	UTSW	6	71509154	missense	probably damaging	1.00
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'- CCATCAAGCGATTTGTGGTTC -3'
(R):5'- CGTCCCAATCAGAGTCTACAGG -3'

Sequencing Primer
(F):5'- GGTTCTCATAAGCACTTTAGGGAC -3'
(R):5'- TCAGAGTCTACAGGAAAGTTCTG -3'

Posted On

2016-11-08