Incidental Mutation 'R2348:Rc3h1'
ID 246017
Institutional Source Beutler Lab
Gene Symbol Rc3h1
Ensembl Gene ENSMUSG00000040423
Gene Name RING CCCH (C3H) domains 1
Synonyms roquin, 5730557L09Rik
MMRRC Submission 040330-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # R2348 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 160733988-160802548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 160778430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 452 (R452S)
Ref Sequence ENSEMBL: ENSMUSP00000037178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035911] [ENSMUST00000161609]
AlphaFold Q4VGL6
Predicted Effect probably damaging
Transcript: ENSMUST00000035911
AA Change: R452S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037178
Gene: ENSMUSG00000040423
AA Change: R452S

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 damaging
Transcript: ENSMUST00000161609
AA Change: R452S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124871
Gene: ENSMUSG00000040423
AA Change: R452S

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
Meta Mutation Damage Score 0.0955 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (31/31)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcyap1 A G 17: 93,509,702 (GRCm39) D51G possibly damaging Het
Ano3 A G 2: 110,614,088 (GRCm39) I205T possibly damaging Het
Arhgap10 A T 8: 78,177,555 (GRCm39) probably benign Het
Asb18 T G 1: 89,942,256 (GRCm39) D15A probably damaging Het
Atm C A 9: 53,403,568 (GRCm39) S1368I possibly damaging Het
Atp9a A T 2: 168,552,746 (GRCm39) probably benign Het
C2cd3 T C 7: 100,062,573 (GRCm39) V653A probably damaging Het
Ctc1 T A 11: 68,917,017 (GRCm39) S304T probably benign Het
Dennd4c G A 4: 86,729,764 (GRCm39) V789I probably benign Het
Dlgap4 C A 2: 156,543,126 (GRCm39) D176E possibly damaging Het
Hdac5 T C 11: 102,090,840 (GRCm39) T747A probably benign Het
Htr2a A T 14: 74,882,550 (GRCm39) N179Y probably damaging Het
Ift52 T C 2: 162,887,177 (GRCm39) V393A probably damaging Het
Itch T C 2: 155,050,998 (GRCm39) S562P possibly damaging Het
Khdc4 T C 3: 88,616,183 (GRCm39) S457P probably benign Het
Kiss1r G T 10: 79,757,654 (GRCm39) R336L probably benign Het
Klra13-ps A T 6: 130,268,271 (GRCm39) noncoding transcript Het
Krt8 T C 15: 101,907,300 (GRCm39) D261G probably benign Het
Mycl A T 4: 122,890,745 (GRCm39) T144S probably benign Het
Naip5 C T 13: 100,356,246 (GRCm39) R1123K probably benign Het
Or5b122 A T 19: 13,563,553 (GRCm39) E295V probably damaging Het
Rasip1 T G 7: 45,278,507 (GRCm39) probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Tpk1 A G 6: 43,323,778 (GRCm39) S224P probably damaging Het
Vmn2r88 A T 14: 51,651,461 (GRCm39) K258N probably benign Het
Vps37c T C 19: 10,683,664 (GRCm39) S29P probably damaging Het
Zfp457 T A 13: 67,441,468 (GRCm39) D369V probably benign Het
Other mutations in Rc3h1
AlleleSourceChrCoordTypePredicted EffectPPH Score
sanroque APN 1 160,940,830 (GRCm38) synonymous probably benign
IGL00417:Rc3h1 APN 1 160,783,551 (GRCm39) critical splice donor site probably null
IGL02302:Rc3h1 APN 1 160,765,675 (GRCm39) splice site probably benign
IGL03053:Rc3h1 APN 1 160,783,387 (GRCm39) missense probably benign
IGL03275:Rc3h1 APN 1 160,787,125 (GRCm39) critical splice donor site probably null
curlyfry UTSW 1 160,786,969 (GRCm39) critical splice acceptor site probably null
PIT4651001:Rc3h1 UTSW 1 160,791,110 (GRCm39) missense probably benign 0.04
R0528:Rc3h1 UTSW 1 160,795,228 (GRCm39) missense probably damaging 1.00
R0609:Rc3h1 UTSW 1 160,757,705 (GRCm39) missense probably damaging 1.00
R1620:Rc3h1 UTSW 1 160,782,543 (GRCm39) missense probably benign 0.02
R1661:Rc3h1 UTSW 1 160,786,993 (GRCm39) missense probably benign 0.29
R1665:Rc3h1 UTSW 1 160,786,993 (GRCm39) missense probably benign 0.29
R2027:Rc3h1 UTSW 1 160,782,507 (GRCm39) missense probably benign 0.03
R2145:Rc3h1 UTSW 1 160,757,827 (GRCm39) missense probably damaging 1.00
R2207:Rc3h1 UTSW 1 160,767,595 (GRCm39) missense probably damaging 0.97
R2227:Rc3h1 UTSW 1 160,791,112 (GRCm39) missense probably benign 0.07
R2925:Rc3h1 UTSW 1 160,782,546 (GRCm39) missense probably damaging 1.00
R3977:Rc3h1 UTSW 1 160,786,969 (GRCm39) critical splice acceptor site probably null
R5071:Rc3h1 UTSW 1 160,787,047 (GRCm39) missense possibly damaging 0.76
R5177:Rc3h1 UTSW 1 160,779,222 (GRCm39) missense probably damaging 1.00
R5410:Rc3h1 UTSW 1 160,792,533 (GRCm39) missense possibly damaging 0.47
R5421:Rc3h1 UTSW 1 160,779,400 (GRCm39) critical splice donor site probably null
R5699:Rc3h1 UTSW 1 160,757,823 (GRCm39) missense probably damaging 1.00
R5873:Rc3h1 UTSW 1 160,787,071 (GRCm39) missense probably damaging 0.99
R7672:Rc3h1 UTSW 1 160,778,454 (GRCm39) missense probably damaging 0.99
R8163:Rc3h1 UTSW 1 160,782,629 (GRCm39) missense probably damaging 1.00
R8271:Rc3h1 UTSW 1 160,768,329 (GRCm39) intron probably benign
R8424:Rc3h1 UTSW 1 160,793,342 (GRCm39) missense probably damaging 1.00
R8746:Rc3h1 UTSW 1 160,757,744 (GRCm39) missense probably damaging 1.00
R8805:Rc3h1 UTSW 1 160,795,222 (GRCm39) missense probably benign 0.10
R8960:Rc3h1 UTSW 1 160,774,164 (GRCm39) missense probably damaging 0.98
R8980:Rc3h1 UTSW 1 160,782,595 (GRCm39) missense probably benign 0.11
R9011:Rc3h1 UTSW 1 160,792,673 (GRCm39) missense probably damaging 1.00
R9688:Rc3h1 UTSW 1 160,770,234 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACCATGAAACACAGACTTGGG -3'
(R):5'- CAGTTGTGTCACTGTGCTCC -3'

Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGAATTTGG -3'
(R):5'- CCTGACGATGCAATTCCATTTGGG -3'
Posted On 2014-10-30