Incidental Mutation 'IGL03053:Rc3h1'
ID409155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rc3h1
Ensembl Gene ENSMUSG00000040423
Gene NameRING CCCH (C3H) domains 1
Synonymsroquin, 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
Chromosome1
Chromosomal Location160906418-160974978 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 160955817 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2016-08-02