Incidental Mutation 'IGL03059:Rnf113a2'
ID 409379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf113a2
Ensembl Gene ENSMUSG00000098134
Gene Name ring finger protein 113A2
Synonyms 2310020H19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.170) question?
Stock # IGL03059
Quality Score
Status
Chromosome 12
Chromosomal Location 84417196-84418578 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 84417476 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 47 (S47R)
Ref Sequence ENSEMBL: ENSMUSP00000138536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081828] [ENSMUST00000151789] [ENSMUST00000153540] [ENSMUST00000183146]
AlphaFold Q14B01
Predicted Effect probably benign
Transcript: ENSMUST00000081828
SMART Domains Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
Pfam:DUF4515 83 276 1.8e-44 PFAM
coiled coil region 277 308 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151789
SMART Domains Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265

DomainStartEndE-ValueType
Pfam:DUF4515 1 138 6.7e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153540
SMART Domains Protein: ENSMUSP00000114625
Gene: ENSMUSG00000057265

DomainStartEndE-ValueType
Pfam:DUF4515 1 105 3.9e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000183146
AA Change: S47R

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138536
Gene: ENSMUSG00000098134
AA Change: S47R

DomainStartEndE-ValueType
low complexity region 39 52 N/A INTRINSIC
ZnF_C3H1 196 223 1.8e-7 SMART
RING 262 299 4.05e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg T C 16: 22,899,005 V244A possibly damaging Het
Ccdc187 C A 2: 26,294,241 R48M probably null Het
Cnga2 G A X: 72,008,272 R251H probably damaging Het
Cop1 A C 1: 159,306,709 K174Q probably damaging Het
Cul9 T C 17: 46,538,987 D512G probably damaging Het
Flt4 G A 11: 49,642,307 A1140T probably damaging Het
Galnt3 C T 2: 66,093,610 R438H probably damaging Het
Gatm G A 2: 122,609,700 A86V probably damaging Het
Klhl28 C T 12: 64,951,566 A385T probably benign Het
Klhl40 T A 9: 121,778,137 V121E probably damaging Het
L1cam T A X: 73,867,024 H30L probably benign Het
Lss A T 10: 76,532,026 probably benign Het
Mrnip A T 11: 50,199,769 Q253H probably damaging Het
Mroh9 A T 1: 163,024,636 F828Y possibly damaging Het
Mst1 T C 9: 108,084,813 C668R probably damaging Het
Nadk A G 4: 155,586,796 E143G probably benign Het
Nap1l4 C T 7: 143,527,165 probably null Het
Nme8 A G 13: 19,652,244 I254T possibly damaging Het
Olfr1382 A G 11: 49,535,194 Y3C probably benign Het
Olfr295 A G 7: 86,585,571 I99V probably benign Het
Olfr374 T A 8: 72,109,998 L144Q probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pkd1l3 C T 8: 109,648,367 L1491F probably damaging Het
Plec G T 15: 76,175,768 T3488N probably damaging Het
Plk2 T G 13: 110,399,134 S497A probably benign Het
Polr1a G A 6: 71,936,512 V617I probably benign Het
Prelid3a C A 18: 67,476,839 Y112* probably null Het
Rtel1 A G 2: 181,350,183 N410D probably benign Het
Ryr3 C T 2: 112,800,047 A2140T probably damaging Het
Slc22a29 A G 19: 8,169,990 L336P probably benign Het
Sphkap T A 1: 83,257,242 Q1621L probably damaging Het
Svs1 A T 6: 48,987,415 Y119F probably benign Het
Tcrg-C1 A T 13: 19,215,902 K123* probably null Het
Ttn T A 2: 76,909,519 S3559C probably benign Het
Ubr4 C T 4: 139,480,676 R4923W probably damaging Het
Vac14 T C 8: 110,710,452 L599P probably damaging Het
Wdr5 T C 2: 27,519,734 probably benign Het
Other mutations in Rnf113a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03123:Rnf113a2 APN 12 84418276 missense probably benign 0.21
R4826:Rnf113a2 UTSW 12 84417614 missense probably benign
R5194:Rnf113a2 UTSW 12 84417337 start codon destroyed probably null 0.08
R6031:Rnf113a2 UTSW 12 84417990 missense probably damaging 1.00
R6031:Rnf113a2 UTSW 12 84417990 missense probably damaging 1.00
R7102:Rnf113a2 UTSW 12 84417771 missense probably damaging 1.00
R7246:Rnf113a2 UTSW 12 84417677 missense possibly damaging 0.81
R7307:Rnf113a2 UTSW 12 84418179 missense probably damaging 1.00
Posted On 2016-08-02