Incidental Mutation 'IGL00417:Rc3h1'
ID7341
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: 0.304) question?
Stock #IGL00417
Quality Score
Status
Chromosome1
Chromosomal Location160906418-160974978 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 160955981 bp
ZygosityHeterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000035911
SMART Domains Protein: ENSMUSP00000037178
Gene: ENSMUSG00000040423

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 null
Transcript: ENSMUST00000161609
SMART Domains Protein: ENSMUSP00000124871
Gene: ENSMUSG00000040423

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,423,759 I39M probably benign Het
Acoxl G A 2: 127,978,804 C92Y probably damaging Het
Actl6b G T 5: 137,554,637 R76L probably damaging Het
Ank T C 15: 27,544,351 M66T possibly damaging Het
C6 C T 15: 4,759,967 A298V possibly damaging Het
Clip4 A T 17: 71,849,942 N591Y probably damaging Het
Cntnap5b T C 1: 100,050,754 I165T probably damaging Het
Dennd1b G A 1: 139,062,940 R214H probably damaging Het
Eri2 G A 7: 119,787,741 T185I probably benign Het
Fbxo33 A G 12: 59,202,670 V476A probably damaging Het
Fer1l4 G A 2: 156,019,920 R1826* probably null Het
Fyb A T 15: 6,580,777 K277I probably damaging Het
Gli3 C A 13: 15,644,299 H229N probably damaging Het
Hmcn1 T C 1: 150,677,278 I2554V probably benign Het
Maml2 A T 9: 13,621,604 probably benign Het
Map4k4 T C 1: 40,014,532 F930L possibly damaging Het
Mmadhc T C 2: 50,289,031 D125G probably benign Het
Nipbl A G 15: 8,366,673 S139P probably damaging Het
Obscn A G 11: 59,006,788 L6647P unknown Het
Ppara C A 15: 85,801,067 H406N probably benign Het
Psg27 T A 7: 18,561,917 H201L probably benign Het
Qser1 A T 2: 104,786,903 I1188N probably damaging Het
Sept2 C T 1: 93,499,142 H158Y probably damaging Het
Snx9 C A 17: 5,891,897 Q100K probably benign Het
Spata5 A G 3: 37,451,802 I677V possibly damaging Het
Thnsl2 G A 6: 71,131,900 T309I probably damaging Het
Thsd7b A G 1: 129,595,834 R125G probably damaging Het
Tmem62 T G 2: 121,006,964 probably null Het
Tnpo3 A T 6: 29,578,461 probably null Het
Trpc6 A T 9: 8,680,438 D889V probably damaging Het
Tubgcp6 C A 15: 89,104,008 V913L probably benign Het
Uox A T 3: 146,627,810 M255L probably benign Het
Other mutations in Rc3h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
sanroque APN 1 160940830 synonymous probably benign
IGL02302:Rc3h1 APN 1 160938105 splice site probably benign
IGL03053:Rc3h1 APN 1 160955817 missense 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
Posted On2012-04-20