Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03053:Rc3h1'

409155

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rc3h1

Ensembl Gene

ENSMUSG00000040423

Gene Name

RING CCCH (C3H) domains 1

Synonyms

roquin, 5730557L09Rik

Accession Numbers

Genbank: NM_001024952; MGI: 2685397

Is this an essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

IGL03053

Quality Score

Status

Chromosome

Chromosomal Location

160906418-160974978 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 160955817 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 734 (D734E)

Ref Sequence

ENSEMBL: ENSMUSP00000124871 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035911] [ENSMUST00000161609]

PDB Structure

X-ray structure of the ROQ domain from murine Roquin-1 [X-RAY DIFFRACTION]
X-ray structure of the ROQ domain from murine Roquin-1 in complex with a 23-mer Tnf-CDE RNA [X-RAY DIFFRACTION]
Crystal structure of N-terminus of Roquin [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000035911
AA Change: D734E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037178
Gene: ENSMUSG00000040423
AA Change: D734E

Domain	Start	End	E-Value	Type
RING	14	53	5.9e-8	SMART
low complexity region	201	212	N/A	INTRINSIC
Pfam:zf-CCCH	414	440	1.4e-4	PFAM
low complexity region	551	562	N/A	INTRINSIC
low complexity region	626	636	N/A	INTRINSIC
low complexity region	728	750	N/A	INTRINSIC
low complexity region	770	784	N/A	INTRINSIC
coiled coil region	954	983	N/A	INTRINSIC
low complexity region	994	1002	N/A	INTRINSIC
low complexity region	1084	1098	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161609
AA Change: D734E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124871
Gene: ENSMUSG00000040423
AA Change: D734E

Domain	Start	End	E-Value	Type
RING	14	53	1.25e-5	SMART
low complexity region	201	212	N/A	INTRINSIC
Pfam:zf-CCCH	414	440	5.3e-7	PFAM
low complexity region	551	562	N/A	INTRINSIC
low complexity region	626	636	N/A	INTRINSIC
low complexity region	728	750	N/A	INTRINSIC
low complexity region	770	784	N/A	INTRINSIC
coiled coil region	954	983	N/A	INTRINSIC
low complexity region	1003	1011	N/A	INTRINSIC
low complexity region	1093	1107	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161708

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: A single recessive mutation on this gene resulted in severe autoimmune disease with phenotype resembling human systemic lupus erythematosus. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Gene trapped(5) Chemically induced(1)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	A	4: 106,755,853	Q342*	probably null	Het
Arglu1	T	A	8: 8,683,960	I119L	probably benign	Het
Atp1a2	G	A	1: 172,278,356	T914I	probably damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Brwd1	A	T	16: 96,017,677	S1318R	possibly damaging	Het
C1qtnf12	A	T	4: 155,966,464	N297Y	probably damaging	Het
Cbwd1	T	A	19: 24,955,377	E97D	probably damaging	Het
Cyp2a4	A	T	7: 26,313,550		probably benign	Het
Cyp2j7	C	T	4: 96,230,037	M106I	probably benign	Het
Dis3	A	G	14: 99,098,734	V112A	probably benign	Het
Ehd3	A	G	17: 73,805,442	Y67C	probably damaging	Het
Elavl4	A	T	4: 110,251,494	S16T	possibly damaging	Het
F2rl1	A	C	13: 95,513,618	V252G	probably benign	Het
Fggy	A	T	4: 95,926,809		probably benign	Het
Hc	G	T	2: 35,024,198	N832K	probably benign	Het
Hnf1a	T	A	5: 114,970,733	M38L	probably benign	Het
Kif13a	T	C	13: 46,752,088	N793S	probably benign	Het
Kit	A	G	5: 75,610,914	N244D	probably benign	Het
Mb21d1	A	T	9: 78,437,437	F234Y	probably benign	Het
Mgat5b	A	G	11: 116,923,450	E60G	possibly damaging	Het
Obsl1	T	C	1: 75,493,079	H1098R	probably benign	Het
Olfr1094	A	G	2: 86,829,263	I170M	possibly damaging	Het
Olfr1178	A	G	2: 88,391,594	M116V	probably damaging	Het
Olfr1230	A	C	2: 89,296,445	I275S	probably damaging	Het
Olfr138	A	C	17: 38,274,791	S7R	probably damaging	Het
Olfr166	A	T	16: 19,487,219	H127L	probably benign	Het
Olfr198	A	G	16: 59,202,247	Y60H	probably damaging	Het
Olfr215	T	C	6: 116,582,245	R234G	possibly damaging	Het
Pitpnm2	A	G	5: 124,143,601	I42T	probably damaging	Het
Prkd2	A	G	7: 16,850,263	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,834,166	I3806V	probably benign	Het
Rasgrp2	T	C	19: 6,407,332		probably benign	Het
Rtel1	A	G	2: 181,351,944	K619E	probably benign	Het
Tnfrsf26	T	C	7: 143,614,860	D147G	possibly damaging	Het
Ufl1	A	G	4: 25,275,833	I110T	probably damaging	Het
Ugt2b36	A	G	5: 87,092,074	S151P	possibly damaging	Het
Vmn2r25	T	C	6: 123,823,118	Y755C	probably damaging	Het
Zfhx3	T	C	8: 108,946,500	V1394A	probably damaging	Het
Zzef1	G	T	11: 72,831,539		probably benign	Het

Other mutations in Rc3h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
sanroque	APN	1	160940830	synonymous	probably benign
IGL00417:Rc3h1	APN	1	160955981	critical splice donor site	probably null
IGL02302:Rc3h1	APN	1	160938105	splice site	probably benign
IGL03275:Rc3h1	APN	1	160959555	critical splice donor site	probably null
curlyfry	UTSW	1	160959399	critical splice acceptor site	probably null
PIT4651001:Rc3h1	UTSW	1	160963540	missense	probably benign	0.04
R0528:Rc3h1	UTSW	1	160967658	missense	probably damaging	1.00
R0609:Rc3h1	UTSW	1	160930135	missense	probably damaging	1.00
R1620:Rc3h1	UTSW	1	160954973	missense	probably benign	0.02
R1661:Rc3h1	UTSW	1	160959423	missense	probably benign	0.29
R1665:Rc3h1	UTSW	1	160959423	missense	probably benign	0.29
R2027:Rc3h1	UTSW	1	160954937	missense	probably benign	0.03
R2145:Rc3h1	UTSW	1	160930257	missense	probably damaging	1.00
R2207:Rc3h1	UTSW	1	160940025	missense	probably damaging	0.97
R2227:Rc3h1	UTSW	1	160963542	missense	probably benign	0.07
R2348:Rc3h1	UTSW	1	160950860	missense	probably damaging	1.00
R2925:Rc3h1	UTSW	1	160954976	missense	probably damaging	1.00
R3977:Rc3h1	UTSW	1	160959399	critical splice acceptor site	probably null
R5071:Rc3h1	UTSW	1	160959477	missense	possibly damaging	0.76
R5177:Rc3h1	UTSW	1	160951652	missense	probably damaging	1.00
R5410:Rc3h1	UTSW	1	160964963	missense	possibly damaging	0.47
R5421:Rc3h1	UTSW	1	160951830	critical splice donor site	probably null
R5699:Rc3h1	UTSW	1	160930253	missense	probably damaging	1.00
R5873:Rc3h1	UTSW	1	160959501	missense	probably damaging	0.99
R7672:Rc3h1	UTSW	1	160950884	missense	probably damaging	0.99
R8163:Rc3h1	UTSW	1	160955059	missense	probably damaging	1.00
R8271:Rc3h1	UTSW	1	160940759	intron	probably benign
R8424:Rc3h1	UTSW	1	160965772	missense	probably damaging	1.00

Posted On

2016-08-02