Mutagenetix > Incidental Mutation

Incidental Mutation 'R3849:Rnf103'

275809

Institutional Source

Beutler Lab

Gene Symbol

Rnf103

Ensembl Gene

ENSMUSG00000052656

Gene Name

ring finger protein 103

Synonyms

Zfp103, kf-1

MMRRC Submission

040897-MU

Accession Numbers

Essential gene?

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

Stock #

R3849 (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: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (52/52)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	A	T	7: 136,978,069 (GRCm39)	N102K	possibly damaging	Het
Abca1	C	T	4: 53,061,481 (GRCm39)		probably benign	Het
Adamts17	T	A	7: 66,490,215 (GRCm39)	L99Q	possibly damaging	Het
Adamtsl1	A	T	4: 86,336,783 (GRCm39)	Q1564L	probably damaging	Het
Aspm	T	A	1: 139,386,024 (GRCm39)	V556E	probably benign	Het
Axin1	T	A	17: 26,406,771 (GRCm39)	Y455N	probably benign	Het
Cacna2d3	A	G	14: 29,069,077 (GRCm39)		probably null	Het
Car8	T	A	4: 8,189,353 (GRCm39)	I154F	probably benign	Het
Ccl27a	T	A	4: 41,773,232 (GRCm39)	T76S	probably benign	Het
Cep170	G	A	1: 176,583,409 (GRCm39)	A990V	probably benign	Het
Chd1	A	T	17: 15,952,133 (GRCm39)	T291S	probably damaging	Het
Col3a1	C	A	1: 45,361,150 (GRCm39)	P112T	unknown	Het
Cpa4	T	C	6: 30,590,872 (GRCm39)	F390S	probably damaging	Het
Cul5	T	G	9: 53,529,286 (GRCm39)	M800L	probably benign	Het
Dst	C	T	1: 34,251,400 (GRCm39)	S4165F	probably damaging	Het
Dusp8	T	C	7: 141,643,802 (GRCm39)	E37G	probably damaging	Het
Efr3b	T	C	12: 4,033,414 (GRCm39)	N131S	probably benign	Het
Fan1	T	C	7: 64,022,119 (GRCm39)	Y378C	probably damaging	Het
Fcgr2b	T	C	1: 170,795,704 (GRCm39)	N75S	possibly damaging	Het
Foxp4	A	G	17: 48,186,453 (GRCm39)	I442T	unknown	Het
Gp9	A	G	6: 87,756,133 (GRCm39)	I49M	probably benign	Het
Grip1	G	A	10: 119,765,863 (GRCm39)	G65D	probably damaging	Het
Hoxc10	T	C	15: 102,875,879 (GRCm39)	V196A	probably benign	Het
Hpx	A	G	7: 105,245,498 (GRCm39)	C92R	probably damaging	Het
Ighv1-22	A	G	12: 114,710,301 (GRCm39)	F9S	possibly damaging	Het
Kif24	C	T	4: 41,404,734 (GRCm39)	R422H	probably damaging	Het
Klk1b1	T	C	7: 43,618,751 (GRCm39)	Y43H	probably 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
Lysmd1	G	A	3: 95,045,772 (GRCm39)	G203D	probably damaging	Het
Mpnd	T	C	17: 56,318,692 (GRCm39)	S150P	probably damaging	Het
Mrc2	T	C	11: 105,183,729 (GRCm39)		probably null	Het
Mtr	A	G	13: 12,262,251 (GRCm39)	S152P	probably benign	Het
Naip2	A	T	13: 100,315,940 (GRCm39)	L280Q	probably damaging	Het
Naip2	G	C	13: 100,315,941 (GRCm39)	L280V	probably damaging	Het
Ndufa13	T	C	8: 70,354,260 (GRCm39)	D9G	probably damaging	Het
Nek1	T	A	8: 61,525,349 (GRCm39)	F596I	probably damaging	Het
Nsd1	A	G	13: 55,394,504 (GRCm39)	T702A	probably benign	Het
Or7d10	A	T	9: 19,832,105 (GRCm39)	Y200F	probably damaging	Het
Pam	T	A	1: 97,782,481 (GRCm39)		probably benign	Het
Plxna1	C	A	6: 89,333,501 (GRCm39)	R376L	probably damaging	Het
Plxnc1	A	G	10: 94,630,294 (GRCm39)	V1535A	probably benign	Het
Prdx5	A	G	19: 6,884,218 (GRCm39)	L166P	probably damaging	Het
Prol1	A	T	5: 88,476,476 (GRCm39)	I289F	unknown	Het
Prss23	T	C	7: 89,158,959 (GRCm39)	Y370C	probably damaging	Het
Rimbp3	A	T	16: 17,028,163 (GRCm39)	H529L	probably benign	Het
Rnase2b	T	A	14: 51,400,205 (GRCm39)	H95Q	probably damaging	Het
Rnf17	T	C	14: 56,749,753 (GRCm39)	V1433A	probably damaging	Het
Rusf1	C	T	7: 127,884,380 (GRCm39)	V201I	probably damaging	Het
Syne2	C	T	12: 76,092,839 (GRCm39)	Q5150*	probably null	Het
Tas2r110	T	A	6: 132,845,638 (GRCm39)	I223N	probably damaging	Het
Tead2	T	A	7: 44,881,752 (GRCm39)		probably null	Het
Vwa3a	A	T	7: 120,361,687 (GRCm39)	K133*	probably null	Het
Vwce	T	C	19: 10,624,269 (GRCm39)	S387P	probably damaging	Het
Zbtb41	T	A	1: 139,351,734 (GRCm39)	H282Q	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
R3847: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'- GTGAACTTGCTTGTTCTGGCAC -3'
(R):5'- TTGGTCAAGGTTTGCAAATAGG -3'

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

Posted On

2015-04-06