Incidental Mutation 'R0786:Rnf130'
ID 76868
Institutional Source Beutler Lab
Gene Symbol Rnf130
Ensembl Gene ENSMUSG00000020376
Gene Name ring finger protein 130
Synonyms G1RP, 2510042A13Rik, G1RZFP
MMRRC Submission 038966-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R0786 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 49916173-50016546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49978264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 275 (D275G)
Ref Sequence ENSEMBL: ENSMUSP00000099837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054684] [ENSMUST00000102776]
AlphaFold Q8VEM1
Predicted Effect probably damaging
Transcript: ENSMUST00000054684
AA Change: D275G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056345
Gene: ENSMUSG00000020376
AA Change: D275G

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 damaging
Transcript: ENSMUST00000102776
AA Change: D275G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099837
Gene: ENSMUSG00000020376
AA Change: D275G

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Bpifb1 C T 2: 154,044,581 (GRCm39) A16V probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Cwh43 T A 5: 73,565,526 (GRCm39) Y30* probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efna3 T C 3: 89,223,880 (GRCm39) N103S probably damaging Het
Efr3a A G 15: 65,725,400 (GRCm39) D532G possibly damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gbp3 T A 3: 142,276,732 (GRCm39) M510K possibly damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Hspb1 T C 5: 135,918,097 (GRCm39) L148P probably damaging Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Mak G T 13: 41,199,545 (GRCm39) Q365K probably benign Het
Melk A G 4: 44,303,649 (GRCm39) Y14C unknown Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Prss8 C T 7: 127,525,646 (GRCm39) R291Q probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rhbg C T 3: 88,151,875 (GRCm39) M394I probably benign Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tgm2 T C 2: 157,966,301 (GRCm39) E451G probably damaging Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmc5 T C 7: 118,226,433 (GRCm39) I266T possibly damaging Het
Tmigd3 T A 3: 105,824,318 (GRCm39) C96S probably damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E possibly damaging 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
IGL02948:Rnf130 APN 11 49,943,598 (GRCm39) splice site 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
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
Predicted Primers PCR Primer
(F):5'- AGCTCCGGCTTAATGTAAGACACATC -3'
(R):5'- TACCACTGTGGAACCCAGAGCAAG -3'

Sequencing Primer
(F):5'- GGCTTAATGTAAGACACATCATAGAG -3'
(R):5'- ggattacatccacaactgggac -3'
Posted On 2013-10-16