Incidental Mutation 'R4826:Rnf113a2'
ID 374160
Institutional Source Beutler Lab
Gene Symbol Rnf113a2
Ensembl Gene ENSMUSG00000098134
Gene Name ring finger protein 113A2
Synonyms 2310020H19Rik
MMRRC Submission 042442-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R4826 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 84463974-84465352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84464388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 93 (N93K)
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 probably benign
Transcript: ENSMUST00000183146
AA Change: N93K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138536
Gene: ENSMUSG00000098134
AA Change: N93K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192332
AA Change: *141R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201522
AA Change: *141R
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (72/72)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,815,470 (GRCm39) R239S probably damaging Het
Acin1 A G 14: 54,902,074 (GRCm39) S573P probably damaging Het
Acta2 A T 19: 34,229,223 (GRCm39) Y55* probably null Het
Aifm2 T C 10: 61,561,768 (GRCm39) M38T probably benign Het
Ank2 C A 3: 126,749,650 (GRCm39) V460L probably benign Het
Ap1b1 T C 11: 4,968,043 (GRCm39) S185P probably benign Het
Arsj A G 3: 126,232,451 (GRCm39) Y399C probably damaging Het
Ciao3 A G 17: 25,999,306 (GRCm39) H240R probably damaging Het
Clec2d T C 6: 129,161,122 (GRCm39) V73A probably benign Het
Cntln T G 4: 84,923,281 (GRCm39) M582R probably benign Het
Cyp4a10 C T 4: 115,375,541 (GRCm39) P8L probably benign Het
Dip2b A G 15: 100,067,162 (GRCm39) N555D probably damaging Het
Dusp4 T A 8: 35,285,671 (GRCm39) F311I probably damaging Het
Eif4g3 T C 4: 137,905,256 (GRCm39) V1245A possibly damaging Het
Ephb3 G A 16: 21,033,745 (GRCm39) R23H possibly damaging Het
Ext2 T C 2: 93,592,975 (GRCm39) T410A probably benign Het
Fam193a A G 5: 34,593,875 (GRCm39) E124G probably damaging Het
Fat4 T A 3: 39,037,106 (GRCm39) V3586E probably damaging Het
Frmd4a T C 2: 4,606,108 (GRCm39) S611P probably damaging Het
Gcn1 A G 5: 115,731,752 (GRCm39) T956A probably benign Het
Gm10549 C A 18: 33,603,838 (GRCm39) T107K unknown Het
Herc6 T A 6: 57,624,072 (GRCm39) M614K probably benign Het
Hspg2 T C 4: 137,292,706 (GRCm39) C4095R probably damaging Het
Hyal5 T C 6: 24,891,575 (GRCm39) I463T possibly damaging Het
Icam5 C T 9: 20,949,099 (GRCm39) A817V possibly damaging Het
Igf2r A T 17: 12,920,240 (GRCm39) D1366E probably damaging Het
Ints7 G A 1: 191,344,018 (GRCm39) V553I probably damaging Het
Iqgap2 T A 13: 95,899,783 (GRCm39) I92F probably damaging Het
Itgb1 T A 8: 129,446,789 (GRCm39) C435S probably damaging Het
Lrrc71 T C 3: 87,650,615 (GRCm39) M216V probably benign Het
Mgam T C 6: 40,657,582 (GRCm39) V979A possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myh9 A T 15: 77,673,146 (GRCm39) Y400* probably null Het
Nbeal1 A G 1: 60,290,501 (GRCm39) R1033G possibly damaging Het
Nit1 T C 1: 171,173,166 (GRCm39) probably benign Het
Nlrp1c-ps A G 11: 71,133,343 (GRCm39) noncoding transcript Het
Nt5c1a T C 4: 123,102,365 (GRCm39) V97A probably damaging Het
Or12k5 A G 2: 36,895,345 (GRCm39) Y94H probably damaging Het
Or13a18 T A 7: 140,190,232 (GRCm39) M51K probably benign Het
Or1a1b A G 11: 74,097,157 (GRCm39) M295T possibly damaging Het
Or56a5 G T 7: 104,793,175 (GRCm39) N108K probably damaging Het
Or9m1 T A 2: 87,733,693 (GRCm39) D109V probably damaging Het
Pde4a T A 9: 21,103,676 (GRCm39) probably null Het
Pkn2 T C 3: 142,515,270 (GRCm39) K640R probably damaging Het
Pla2g6 A G 15: 79,192,879 (GRCm39) S263P possibly damaging Het
Prkg1 A G 19: 31,742,006 (GRCm39) S73P possibly damaging Het
Prr27 A C 5: 87,998,825 (GRCm39) probably benign Het
Rad54b G T 4: 11,599,753 (GRCm39) W319L probably damaging Het
Rassf8 T A 6: 145,762,276 (GRCm39) L349H probably damaging Het
Rmc1 G T 18: 12,318,836 (GRCm39) probably benign Het
Sapcd2 C T 2: 25,262,768 (GRCm39) A109V probably benign Het
Slamf9 C A 1: 172,304,008 (GRCm39) H118N probably benign Het
Slc37a1 A G 17: 31,541,147 (GRCm39) Y213C probably damaging Het
Slc5a1 A G 5: 33,316,494 (GRCm39) D580G probably benign Het
Slc7a2 T A 8: 41,364,083 (GRCm39) I432N probably damaging Het
Tas2r114 A T 6: 131,666,800 (GRCm39) L76Q probably damaging Het
Tcerg1 C T 18: 42,668,180 (GRCm39) P391L unknown Het
Tdrd12 A C 7: 35,203,582 (GRCm39) V314G probably benign Het
Zbtb7b A G 3: 89,288,080 (GRCm39) L246S probably benign Het
Other mutations in Rnf113a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03059:Rnf113a2 APN 12 84,464,250 (GRCm39) missense possibly damaging 0.69
IGL03123:Rnf113a2 APN 12 84,465,050 (GRCm39) missense probably benign 0.21
R5194:Rnf113a2 UTSW 12 84,464,111 (GRCm39) start codon destroyed probably null 0.08
R6031:Rnf113a2 UTSW 12 84,464,764 (GRCm39) missense probably damaging 1.00
R6031:Rnf113a2 UTSW 12 84,464,764 (GRCm39) missense probably damaging 1.00
R7102:Rnf113a2 UTSW 12 84,464,545 (GRCm39) missense probably damaging 1.00
R7246:Rnf113a2 UTSW 12 84,464,451 (GRCm39) missense possibly damaging 0.81
R7307:Rnf113a2 UTSW 12 84,464,953 (GRCm39) missense probably damaging 1.00
R9598:Rnf113a2 UTSW 12 84,464,270 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTCTCAGGGAAAGTCGGAGG -3'
(R):5'- TGGGGCCCTTTCTTACCATG -3'

Sequencing Primer
(F):5'- TTCCTCTTCAAAAAGCCCGGG -3'
(R):5'- CTTTCTTACCATGCCAGAGGAGG -3'
Posted On 2016-03-01