Incidental Mutation 'R4353:Rnf130'
ID 327421
Institutional Source Beutler Lab
Gene Symbol Rnf130
Ensembl Gene ENSMUSG00000020376
Gene Name ring finger protein 130
Synonyms G1RP, 2510042A13Rik, G1RZFP
MMRRC Submission 040866-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R4353 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 49916173-50016546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49978267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 276 (V276A)
Ref Sequence ENSEMBL: ENSMUSP00000056345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054684] [ENSMUST00000102776]
AlphaFold Q8VEM1
Predicted Effect possibly damaging
Transcript: ENSMUST00000054684
AA Change: V276A

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056345
Gene: ENSMUSG00000020376
AA Change: V276A

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 possibly damaging
Transcript: ENSMUST00000102776
AA Change: V276A

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099837
Gene: ENSMUSG00000020376
AA Change: V276A

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: 97.4%
  • 20x: 95.5%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Alpk2 C T 18: 65,424,523 (GRCm39) R1888H possibly damaging Het
Arhgap33 C A 7: 30,223,561 (GRCm39) V823L possibly damaging Het
Atp2b2 T C 6: 113,742,745 (GRCm39) I736V probably benign Het
Atp8a1 T C 5: 67,926,451 (GRCm39) T260A probably damaging Het
B4galnt3 T C 6: 120,192,437 (GRCm39) E433G possibly damaging Het
Bzw2 A T 12: 36,173,978 (GRCm39) F99I probably damaging Het
Cdh20 A G 1: 104,906,814 (GRCm39) D547G probably damaging Het
Col27a1 G T 4: 63,143,868 (GRCm39) A519S probably benign Het
Coq6 G A 12: 84,414,923 (GRCm39) G110D probably damaging Het
Cpb1 T C 3: 20,316,708 (GRCm39) T281A probably benign Het
Cttnbp2 T C 6: 18,514,703 (GRCm39) D11G probably benign Het
Cyp2c37 A G 19: 39,988,989 (GRCm39) Y316C possibly damaging Het
Dcdc2a T A 13: 25,240,474 (GRCm39) I74N probably damaging Het
Dhx9 A G 1: 153,347,535 (GRCm39) L391P probably damaging Het
Dsc2 G T 18: 20,183,125 (GRCm39) L98I probably damaging Het
Dthd1 T A 5: 63,000,210 (GRCm39) S511T probably benign Het
Dusp2 A G 2: 127,179,256 (GRCm39) T204A probably damaging Het
Elovl5 T C 9: 77,868,199 (GRCm39) V37A probably benign Het
Etv1 A G 12: 38,907,105 (GRCm39) E369G probably damaging Het
Gem G A 4: 11,705,939 (GRCm39) R9H probably damaging Het
Heg1 A G 16: 33,530,847 (GRCm39) T108A probably benign Het
Inava C T 1: 136,153,946 (GRCm39) V180I probably damaging Het
Iqgap2 C T 13: 95,807,904 (GRCm39) V788M probably damaging Het
Kyat3 T C 3: 142,437,054 (GRCm39) probably null Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Mecom C A 3: 30,020,887 (GRCm39) V452L possibly damaging Het
Meis2 A G 2: 115,890,044 (GRCm39) M146T probably damaging Het
Nrp2 A G 1: 62,777,576 (GRCm39) D127G probably damaging Het
Nt5el T C 13: 105,255,253 (GRCm39) Y445H probably benign Het
Nup214 T C 2: 31,867,929 (GRCm39) probably null Het
Or2h1b T A 17: 37,462,228 (GRCm39) I58F probably damaging Het
Pabpc4 C T 4: 123,184,060 (GRCm39) T191I probably damaging Het
Pcnx2 T C 8: 126,489,590 (GRCm39) H1668R probably damaging Het
Poln C T 5: 34,286,796 (GRCm39) C124Y probably benign Het
Ppp2r2a T A 14: 67,266,386 (GRCm39) I92L probably damaging Het
Prb1b T G 6: 132,290,624 (GRCm39) Y25S unknown Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Rnf31 AAC A 14: 55,838,555 (GRCm39) probably null Het
Rnf38 A T 4: 44,149,100 (GRCm39) N82K possibly damaging Het
Scn7a T A 2: 66,506,780 (GRCm39) M1370L probably benign Het
Sema4b C A 7: 79,865,399 (GRCm39) L125I probably damaging Het
Slc12a7 C T 13: 73,938,853 (GRCm39) T210I possibly damaging Het
Sox8 A C 17: 25,786,309 (GRCm39) *465G probably null Het
Spg11 G T 2: 121,943,675 (GRCm39) T159K possibly damaging Het
Stk36 A G 1: 74,671,966 (GRCm39) R889G possibly damaging Het
Tmbim7 A G 5: 3,711,796 (GRCm39) S14G probably benign Het
Usp16 A G 16: 87,267,242 (GRCm39) N211D probably damaging Het
Vmn1r6 C T 6: 56,979,677 (GRCm39) A113V possibly damaging Het
Zc3h14 A G 12: 98,730,219 (GRCm39) N92D possibly damaging Het
Zfp638 T C 6: 83,961,041 (GRCm39) S1206P 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
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'- GCTCCGGCTTAATGTAAGACAC -3'
(R):5'- AGAGGAATTCTGGTCAGAGTTG -3'

Sequencing Primer
(F):5'- TGGCTCATATGTAATTTGGATCAAC -3'
(R):5'- GTCAGAGTTGACCAAGACCTTC -3'
Posted On 2015-07-07