Mutagenetix > Incidental Mutation

Incidental Mutation 'R3847:Rnf103'

277425

Institutional Source

Beutler Lab

Gene Symbol

Rnf103

Ensembl Gene

ENSMUSG00000052656

Gene Name

ring finger protein 103

Synonyms

Zfp103, kf-1

MMRRC Submission

040895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R3847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71470878-71487865 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 71485859 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 163 (C163W)

Ref Sequence

ENSEMBL: ENSMUSP00000109817 (fasta)

Gene Model

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

AlphaFold

Q9R1W3

Predicted Effect

probably damaging
Transcript: ENSMUST00000064637
AA Change: C163W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066324
Gene: ENSMUSG00000052656
AA Change: C163W

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: C163W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109817
Gene: ENSMUSG00000052656
AA Change: C163W

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

0.7194

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,884,190 (GRCm39)		probably null	Het
Abcc12	C	T	8: 87,280,020 (GRCm39)	E338K	probably benign	Het
Abcc5	A	T	16: 20,190,906 (GRCm39)	S815T	probably benign	Het
Ankrd16	G	A	2: 11,794,619 (GRCm39)	E335K	probably benign	Het
Atm	A	G	9: 53,414,375 (GRCm39)	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,331,077 (GRCm39)	R281H	probably damaging	Het
Blvra	C	T	2: 126,937,111 (GRCm39)	T188I	probably damaging	Het
Bmp8b	C	A	4: 123,009,961 (GRCm39)		probably benign	Het
Cacna2d3	A	G	14: 29,069,077 (GRCm39)		probably null	Het
Cacng8	T	C	7: 3,442,990 (GRCm39)	S84P	probably damaging	Het
Cad	T	A	5: 31,218,994 (GRCm39)	V605E	probably damaging	Het
Ccny	A	G	18: 9,449,641 (GRCm39)	S11P	probably benign	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Corin	T	C	5: 72,579,508 (GRCm39)	E155G	probably benign	Het
Cul9	T	C	17: 46,836,061 (GRCm39)	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,776,718 (GRCm39)	E501G	probably damaging	Het
Dennd3	T	A	15: 73,414,581 (GRCm39)	N457K	possibly damaging	Het
Dnah7a	T	G	1: 53,540,815 (GRCm39)	I2520L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Fgf14	A	C	14: 124,217,801 (GRCm39)	I234R	probably benign	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gad2	T	G	2: 22,575,000 (GRCm39)	D472E	probably benign	Het
Garnl3	G	T	2: 32,882,240 (GRCm39)	H832N	probably benign	Het
Gm13941	T	C	2: 110,935,198 (GRCm39)	M11V	unknown	Het
Gnptab	T	A	10: 88,269,439 (GRCm39)	L714*	probably null	Het
Golgb1	C	A	16: 36,719,095 (GRCm39)	Q334K	probably benign	Het
Gp9	A	G	6: 87,756,133 (GRCm39)	I49M	probably benign	Het
Guf1	A	G	5: 69,718,500 (GRCm39)	N213S	probably damaging	Het
H2-K2	T	G	17: 34,216,303 (GRCm39)	H281P	probably damaging	Het
Hhip	T	A	8: 80,724,124 (GRCm39)	M373L	probably benign	Het
Ifi203	C	T	1: 173,761,362 (GRCm39)	C229Y	possibly damaging	Het
Ighv13-2	A	G	12: 114,321,418 (GRCm39)	L88S	probably damaging	Het
Kcna3	T	C	3: 106,944,012 (GRCm39)	Y92H	possibly damaging	Het
Lmo7	A	G	14: 102,159,531 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,050,703 (GRCm39)	D387G	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mknk2	C	T	10: 80,503,809 (GRCm39)	W367*	probably null	Het
Mocos	A	G	18: 24,809,719 (GRCm39)	K441E	probably damaging	Het
Mpnd	T	C	17: 56,318,692 (GRCm39)	S150P	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Neurod4	C	T	10: 130,106,351 (GRCm39)	V308I	probably benign	Het
Nxf3	C	T	X: 134,974,732 (GRCm39)	V474I	probably benign	Het
Or10d5j	A	T	9: 39,867,877 (GRCm39)	M118K	probably damaging	Het
Or8u10	A	T	2: 85,915,751 (GRCm39)	Y123*	probably null	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Pde5a	T	C	3: 122,596,809 (GRCm39)	Y467H	probably damaging	Het
Pibf1	T	A	14: 99,374,557 (GRCm39)	V332E	possibly damaging	Het
Plxna1	C	A	6: 89,333,501 (GRCm39)	R376L	probably damaging	Het
Proz	A	G	8: 13,123,533 (GRCm39)	E268G	probably benign	Het
Rimbp3	A	T	16: 17,028,163 (GRCm39)	H529L	probably benign	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Septin11	G	T	5: 93,310,026 (GRCm39)	M276I	probably damaging	Het
Slc30a4	A	G	2: 122,544,192 (GRCm39)	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,302,887 (GRCm39)	V570A	probably damaging	Het
Spout1	T	C	2: 30,067,419 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,095,396 (GRCm39)	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,845,638 (GRCm39)	I223N	probably damaging	Het
Tead2	T	A	7: 44,881,752 (GRCm39)		probably null	Het
Thsd1	A	G	8: 22,749,427 (GRCm39)	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,073,023 (GRCm39)	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,428,952 (GRCm39)	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,679,389 (GRCm39)	H612N	probably damaging	Het
Wnk1	C	T	6: 119,946,315 (GRCm39)	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	probably benign	Het
Zfp335	C	A	2: 164,742,026 (GRCm39)		probably null	Het
Zmym2	T	A	14: 57,158,956 (GRCm39)		probably benign	Het

Other mutations in Rnf103

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00510:Rnf103	APN	6	71,486,733 (GRCm39)	missense	probably damaging	0.99
IGL00589:Rnf103	APN	6	71,486,067 (GRCm39)	missense	probably benign	0.00
IGL01601:Rnf103	APN	6	71,486,167 (GRCm39)	missense	probably damaging	1.00
IGL01732:Rnf103	APN	6	71,487,366 (GRCm39)	missense	probably damaging	0.97
IGL02130:Rnf103	APN	6	71,486,548 (GRCm39)	missense	probably damaging	1.00
IGL02227:Rnf103	APN	6	71,487,172 (GRCm39)	missense	probably benign	0.01
IGL02386:Rnf103	APN	6	71,486,202 (GRCm39)	missense	probably benign
IGL02532:Rnf103	APN	6	71,486,636 (GRCm39)	missense	probably damaging	0.96
IGL02532:Rnf103	APN	6	71,486,809 (GRCm39)	missense	probably benign	0.19
IGL02747:Rnf103	APN	6	71,486,161 (GRCm39)	missense	probably damaging	0.97
IGL02839:Rnf103	APN	6	71,486,689 (GRCm39)	missense	probably benign	0.41
IGL03247:Rnf103	APN	6	71,487,289 (GRCm39)	missense	possibly damaging	0.78
R0140:Rnf103	UTSW	6	71,486,315 (GRCm39)	missense	possibly damaging	0.76
R0308:Rnf103	UTSW	6	71,486,686 (GRCm39)	missense	probably damaging	1.00
R0764:Rnf103	UTSW	6	71,486,566 (GRCm39)	missense	probably damaging	0.96
R1428:Rnf103	UTSW	6	71,485,983 (GRCm39)	missense	probably damaging	1.00
R2362:Rnf103	UTSW	6	71,487,001 (GRCm39)	missense	probably benign	0.08
R3849:Rnf103	UTSW	6	71,485,859 (GRCm39)	missense	probably damaging	1.00
R3919:Rnf103	UTSW	6	71,487,331 (GRCm39)	missense	probably benign	0.08
R4914:Rnf103	UTSW	6	71,487,248 (GRCm39)	missense	possibly damaging	0.71
R5620:Rnf103	UTSW	6	71,486,992 (GRCm39)	missense	probably benign	0.04
R5634:Rnf103	UTSW	6	71,486,601 (GRCm39)	missense	probably benign	0.01
R5682:Rnf103	UTSW	6	71,485,708 (GRCm39)	intron	probably benign
R5791:Rnf103	UTSW	6	71,485,909 (GRCm39)	missense	probably damaging	0.99
R5994:Rnf103	UTSW	6	71,473,894 (GRCm39)	missense	probably damaging	0.99
R6347:Rnf103	UTSW	6	71,482,808 (GRCm39)	missense	possibly damaging	0.89
R6551:Rnf103	UTSW	6	71,487,349 (GRCm39)	missense	probably damaging	1.00
R7739:Rnf103	UTSW	6	71,486,463 (GRCm39)	missense	possibly damaging	0.77
R7819:Rnf103	UTSW	6	71,485,914 (GRCm39)	missense	probably benign	0.00
R7903:Rnf103	UTSW	6	71,486,138 (GRCm39)	missense	probably damaging	1.00
R8750:Rnf103	UTSW	6	71,486,602 (GRCm39)	missense	probably benign	0.11
R8784:Rnf103	UTSW	6	71,486,982 (GRCm39)	missense	probably benign	0.03
R8974:Rnf103	UTSW	6	71,486,092 (GRCm39)	missense	probably damaging	0.98
R9154:Rnf103	UTSW	6	71,487,099 (GRCm39)	missense	probably benign	0.06
R9505:Rnf103	UTSW	6	71,487,049 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAACTTGCTTGTTCTGGCAC -3'
(R):5'- TTGGTCAAGGTTTGCAAATAGG -3'

Sequencing Primer
(F):5'- GAGGGTTTTAAAAGGGCC -3'
(R):5'- ACCCAGTATTGATCACTTTTATTCC -3'

Posted On

2015-04-06