Incidental Mutation 'IGL02948:Rnf130'
ID 364862
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf130
Ensembl Gene ENSMUSG00000020376
Gene Name ring finger protein 130
Synonyms G1RP, 2510042A13Rik, G1RZFP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL02948
Quality Score
Status
Chromosome 11
Chromosomal Location 49916173-50016546 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 49943598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054684] [ENSMUST00000102776]
AlphaFold Q8VEM1
Predicted Effect probably benign
Transcript: ENSMUST00000054684
SMART Domains Protein: ENSMUSP00000056345
Gene: ENSMUSG00000020376

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
Pfam:PA 65 169 4.6e-13 PFAM
transmembrane domain 195 217 N/A INTRINSIC
RING 264 304 5.51e-7 SMART
low complexity region 341 354 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102776
SMART Domains Protein: ENSMUSP00000099837
Gene: ENSMUSG00000020376

DomainStartEndE-ValueType
low complexity region 3 18 N/A INTRINSIC
Pfam:PA 69 167 8.1e-14 PFAM
transmembrane domain 195 217 N/A INTRINSIC
RING 264 304 5.51e-7 SMART
low complexity region 341 354 N/A INTRINSIC
transmembrane domain 387 409 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,318 (GRCm39) probably benign Het
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cntn1 A G 15: 92,143,891 (GRCm39) T285A probably benign Het
Dusp4 G T 8: 35,285,726 (GRCm39) G329V probably damaging Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Fbxw2 T C 2: 34,695,723 (GRCm39) *455W probably null Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Homer2 C A 7: 81,299,393 (GRCm39) W24L probably damaging Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Naprt C T 15: 75,764,206 (GRCm39) R336Q probably damaging Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Rtn2 T C 7: 19,027,036 (GRCm39) S17P probably damaging Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc22a16 T G 10: 40,449,958 (GRCm39) Y131* probably null Het
Slc28a2 T A 2: 122,288,458 (GRCm39) M583K possibly damaging Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Strip1 T C 3: 107,520,582 (GRCm39) R823G probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim55 T A 3: 19,725,116 (GRCm39) L211Q probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T probably benign Het
Other mutations in Rnf130
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Rnf130 APN 11 49,984,623 (GRCm39) missense probably damaging 1.00
IGL02364:Rnf130 APN 11 49,986,667 (GRCm39) missense probably benign
R0145:Rnf130 UTSW 11 49,962,046 (GRCm39) missense possibly damaging 0.89
R0358:Rnf130 UTSW 11 49,962,109 (GRCm39) missense probably benign 0.01
R0570:Rnf130 UTSW 11 49,986,703 (GRCm39) missense possibly damaging 0.66
R0786:Rnf130 UTSW 11 49,978,264 (GRCm39) missense probably damaging 1.00
R1709:Rnf130 UTSW 11 49,978,213 (GRCm39) missense possibly damaging 0.80
R2312:Rnf130 UTSW 11 49,978,290 (GRCm39) critical splice donor site probably null
R2972:Rnf130 UTSW 11 49,984,627 (GRCm39) nonsense probably null
R4353:Rnf130 UTSW 11 49,978,267 (GRCm39) missense possibly damaging 0.83
R4398:Rnf130 UTSW 11 49,962,205 (GRCm39) missense probably benign 0.08
R5162:Rnf130 UTSW 11 49,943,722 (GRCm39) missense probably damaging 1.00
R5236:Rnf130 UTSW 11 49,986,805 (GRCm39) missense probably damaging 0.99
R5869:Rnf130 UTSW 11 49,976,642 (GRCm39) splice site probably null
R6432:Rnf130 UTSW 11 49,986,617 (GRCm39) nonsense probably null
R6865:Rnf130 UTSW 11 49,962,091 (GRCm39) missense probably damaging 1.00
R8209:Rnf130 UTSW 11 49,962,097 (GRCm39) missense probably benign 0.44
R8226:Rnf130 UTSW 11 49,962,097 (GRCm39) missense probably benign 0.44
R8293:Rnf130 UTSW 11 49,986,623 (GRCm39) missense probably benign 0.06
R8508:Rnf130 UTSW 11 49,978,264 (GRCm39) missense probably damaging 1.00
R9666:Rnf130 UTSW 11 49,986,618 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18