Incidental Mutation 'R5869:Rnf130'
ID 454340
Institutional Source Beutler Lab
Gene Symbol Rnf130
Ensembl Gene ENSMUSG00000020376
Gene Name ring finger protein 130
Synonyms G1RP, 2510042A13Rik, G1RZFP
MMRRC Submission 044077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R5869 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 49916173-50016546 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to G at 49976642 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 null
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 null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 93% (68/73)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,161,450 (GRCm39) probably benign Het
Arsk T C 13: 76,239,903 (GRCm39) E100G probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Aspscr1 T C 11: 120,579,746 (GRCm39) I31T possibly damaging Het
Asz1 T C 6: 18,074,939 (GRCm39) probably benign Het
Calm5 T A 13: 3,904,321 (GRCm39) probably benign Het
Car5a G A 8: 122,643,119 (GRCm39) T295I probably benign Het
Ccdc174 T A 6: 91,862,399 (GRCm39) probably benign Het
Celsr2 G A 3: 108,321,225 (GRCm39) A529V probably damaging Het
Cep192 A G 18: 67,948,935 (GRCm39) D252G probably benign Het
Clcnka A G 4: 141,122,276 (GRCm39) F217L probably benign Het
Cnot3 A T 7: 3,647,929 (GRCm39) probably benign Het
Coro1c A G 5: 113,988,907 (GRCm39) probably benign Het
Cstf3 A G 2: 104,489,585 (GRCm39) probably null Het
Dcdc2a C T 13: 25,291,713 (GRCm39) P233S probably benign Het
Ddx55 A G 5: 124,706,745 (GRCm39) T581A probably benign Het
Exo1 T C 1: 175,728,849 (GRCm39) S638P possibly damaging Het
Fam135a T C 1: 24,068,511 (GRCm39) E616G possibly damaging Het
Fignl2 T C 15: 100,951,161 (GRCm39) S374G unknown Het
Gm4799 A T 10: 82,790,283 (GRCm39) noncoding transcript Het
Hectd4 T C 5: 121,481,288 (GRCm39) probably null Het
Ighv1-76 T C 12: 115,811,658 (GRCm39) E65G probably damaging Het
Igsf9b C A 9: 27,234,531 (GRCm39) H465Q probably benign Het
Itga9 A G 9: 118,492,957 (GRCm39) D284G probably damaging Het
Itpr1 T C 6: 108,450,490 (GRCm39) S1940P probably benign Het
Kcnb1 A G 2: 167,029,991 (GRCm39) S185P probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Krt1 A T 15: 101,758,566 (GRCm39) F199L probably damaging Het
Lpin2 A G 17: 71,539,271 (GRCm39) probably benign Het
Lrp1b A C 2: 40,894,615 (GRCm39) D2204E probably damaging Het
Mier3 T A 13: 111,851,384 (GRCm39) N427K probably damaging Het
Mmp12 GTAATAATAATAATAATAAT GTAATAATAATAATAAT 9: 7,348,446 (GRCm39) probably benign Het
Mroh3 T A 1: 136,113,861 (GRCm39) M643L probably benign Het
Myh11 A G 16: 14,048,664 (GRCm39) S548P probably damaging Het
Nat8f6 A C 6: 85,785,505 (GRCm39) L215V possibly damaging Het
Nlrp3 G A 11: 59,438,960 (GRCm39) R179Q probably damaging Het
Nup88 T C 11: 70,860,497 (GRCm39) E94G probably benign Het
Pias1 A T 9: 62,820,048 (GRCm39) D306E probably benign Het
Pick1 A G 15: 79,133,095 (GRCm39) D385G probably benign Het
Pitx3 A T 19: 46,125,735 (GRCm39) probably benign Het
Plpp3 T A 4: 105,052,159 (GRCm39) probably null Het
Prlhr C A 19: 60,456,059 (GRCm39) R169L probably damaging Het
Ptprf A C 4: 118,067,579 (GRCm39) M1872R probably damaging Het
Ptprh T C 7: 4,604,939 (GRCm39) D35G probably benign Het
Rnf17 A C 14: 56,743,445 (GRCm39) E1337A possibly damaging Het
Sdk2 A G 11: 113,742,708 (GRCm39) Y734H probably damaging Het
Slc25a10 C T 11: 120,388,943 (GRCm39) T269I probably damaging Het
Slc4a11 A C 2: 130,526,379 (GRCm39) V855G probably benign Het
Slc5a5 C A 8: 71,344,974 (GRCm39) R111L probably damaging Het
Spart A T 3: 55,042,931 (GRCm39) M616L probably benign Het
Tmem229a T C 6: 24,954,686 (GRCm39) D356G probably damaging Het
Tmem30c A G 16: 57,086,925 (GRCm39) S293P probably damaging Het
Tnfrsf14 C A 4: 155,011,055 (GRCm39) probably null Het
Tnfrsf19 C T 14: 61,208,627 (GRCm39) R298H possibly damaging Het
Ttc21a A G 9: 119,787,858 (GRCm39) K809E probably benign Het
Ttn G A 2: 76,580,553 (GRCm39) P23447S probably damaging Het
Uap1 T A 1: 169,978,707 (GRCm39) probably null Het
Wdr82 A G 9: 106,062,503 (GRCm39) Q252R probably benign Het
Zfp523 T C 17: 28,413,967 (GRCm39) I34T probably benign Het
Zfp808 T A 13: 62,319,069 (GRCm39) H99Q probably 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
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
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'- TAACATGGCAGAAGTGGTCTAG -3'
(R):5'- AGAGAATGTACCTCTGTTGGC -3'

Sequencing Primer
(F):5'- TGGTCTAGAATAATAGATGCCATACC -3'
(R):5'- AATGTACCTCTGTTGGCTACTTATG -3'
Posted On 2017-02-10