Incidental Mutation 'R5297:Rnf19a'
ID 405508
Institutional Source Beutler Lab
Gene Symbol Rnf19a
Ensembl Gene ENSMUSG00000022280
Gene Name ring finger protein 19A
Synonyms XY body protein, Rnf19, Dorfin, XYbp
MMRRC Submission 042880-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.595) question?
Stock # R5297 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 36240080-36283293 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36247924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 427 (S427P)
Ref Sequence ENSEMBL: ENSMUSP00000022890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022890] [ENSMUST00000228358]
AlphaFold P50636
Predicted Effect probably damaging
Transcript: ENSMUST00000022890
AA Change: S427P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022890
Gene: ENSMUSG00000022280
AA Change: S427P

DomainStartEndE-ValueType
low complexity region 40 56 N/A INTRINSIC
low complexity region 72 82 N/A INTRINSIC
RING 132 179 5.56e-3 SMART
IBR 199 264 1.5e-24 SMART
IBR 283 347 1.87e-2 SMART
transmembrane domain 373 395 N/A INTRINSIC
transmembrane domain 416 438 N/A INTRINSIC
low complexity region 502 520 N/A INTRINSIC
low complexity region 664 682 N/A INTRINSIC
low complexity region 723 734 N/A INTRINSIC
low complexity region 775 787 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000228358
AA Change: S427P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 G T 1: 155,463,204 (GRCm39) A135S probably benign Het
Agbl4 A G 4: 111,423,895 (GRCm39) K307R possibly damaging Het
Akna T C 4: 63,300,083 (GRCm39) E653G possibly damaging Het
Arhgap26 T C 18: 39,254,941 (GRCm39) Y273H probably damaging Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atp1a1 C T 3: 101,498,443 (GRCm39) V250M possibly damaging Het
Cacna1c T G 6: 118,719,322 (GRCm39) D215A probably damaging Het
Cadps T A 14: 12,822,345 (GRCm38) N132Y probably damaging Het
Casp6 T C 3: 129,704,204 (GRCm39) F97L possibly damaging Het
Ckap2l T C 2: 129,127,290 (GRCm39) N296S possibly damaging Het
Col6a4 T C 9: 105,952,066 (GRCm39) K611E probably benign Het
Copa A G 1: 171,940,675 (GRCm39) H696R probably damaging Het
Cyp2a4 T A 7: 26,011,629 (GRCm39) N283K probably benign Het
Dcc C T 18: 71,511,809 (GRCm39) V869I probably benign Het
Efemp1 G T 11: 28,817,868 (GRCm39) G116C probably damaging Het
F830045P16Rik T C 2: 129,302,473 (GRCm39) E373G probably benign Het
Fbxo9 T C 9: 77,993,561 (GRCm39) T318A probably benign Het
Gipr A G 7: 18,891,469 (GRCm39) W403R probably damaging Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Golgb1 G A 16: 36,695,978 (GRCm39) probably benign Het
Hdac1-ps A G 17: 78,800,187 (GRCm39) S393G probably benign Het
Herc3 T C 6: 58,833,626 (GRCm39) L171P probably damaging Het
Il5ra A G 6: 106,715,095 (GRCm39) I221T probably benign Het
Itgb2 A G 10: 77,400,501 (GRCm39) I705V probably damaging Het
Map4k4 G T 1: 40,001,377 (GRCm39) V55F probably damaging Het
Mast1 A G 8: 85,639,947 (GRCm39) probably null Het
Mitf G T 6: 97,971,391 (GRCm39) G186V probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Nrcam T C 12: 44,591,567 (GRCm39) F204L probably damaging Het
Or10g1 A G 14: 52,647,675 (GRCm39) L218P probably damaging Het
Or10x4 A G 1: 174,218,766 (GRCm39) M44V probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1e22 A T 11: 73,377,215 (GRCm39) V145E probably damaging Het
Or2a12 T C 6: 42,904,371 (GRCm39) S69P probably benign Het
Or52n4b A T 7: 108,144,611 (GRCm39) N291I probably damaging Het
Or5as1 T C 2: 86,980,793 (GRCm39) I71V probably benign Het
Pclo A T 5: 14,726,263 (GRCm39) probably benign Het
Pik3ca T A 3: 32,504,202 (GRCm39) Y631N probably damaging Het
Pramel19 T A 4: 101,798,348 (GRCm39) D106E possibly damaging Het
Ptk2b T C 14: 66,409,966 (GRCm39) D462G probably benign Het
Scn3a T A 2: 65,299,378 (GRCm39) Y1376F possibly damaging Het
Shoc1 A G 4: 59,047,543 (GRCm39) W1359R probably benign Het
Spem1 A G 11: 69,711,753 (GRCm39) Y304H probably damaging Het
Stk38l C A 6: 146,677,153 (GRCm39) Y450* probably null Het
Stx19 A G 16: 62,642,337 (GRCm39) E51G probably damaging Het
Ttc41 C G 10: 86,612,443 (GRCm39) Q1239E probably benign Het
Tuba3a C T 6: 125,258,303 (GRCm39) R229H probably damaging Het
Utp18 A T 11: 93,766,915 (GRCm39) V264D probably damaging Het
V1rd19 T C 7: 23,702,714 (GRCm39) V60A probably damaging Het
Virma T G 4: 11,494,819 (GRCm39) V40G probably damaging Het
Vmn1r160 C T 7: 22,570,715 (GRCm39) Q23* probably null Het
Vmn2r13 T C 5: 109,339,805 (GRCm39) I57V probably benign Het
Vmn2r26 T A 6: 124,038,832 (GRCm39) F802L probably damaging Het
Vmn2r61 A G 7: 41,909,646 (GRCm39) D57G probably benign Het
Vps13c A G 9: 67,785,413 (GRCm39) N260S probably damaging Het
Xirp1 C A 9: 119,848,668 (GRCm39) A72S probably damaging Het
Zfp212 T C 6: 47,906,011 (GRCm39) V190A probably benign Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Rnf19a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00158:Rnf19a APN 15 36,265,948 (GRCm39) missense probably damaging 0.98
Cycle UTSW 15 36,253,450 (GRCm39) intron probably benign
Tolkien UTSW 15 36,265,452 (GRCm39) missense possibly damaging 0.80
Wagner UTSW 15 36,244,342 (GRCm39) missense probably benign 0.05
R0245:Rnf19a UTSW 15 36,253,178 (GRCm39) missense probably damaging 1.00
R0583:Rnf19a UTSW 15 36,253,151 (GRCm39) missense probably damaging 1.00
R1295:Rnf19a UTSW 15 36,244,247 (GRCm39) nonsense probably null
R1528:Rnf19a UTSW 15 36,265,801 (GRCm39) missense possibly damaging 0.75
R1710:Rnf19a UTSW 15 36,244,353 (GRCm39) missense probably damaging 1.00
R1835:Rnf19a UTSW 15 36,266,071 (GRCm39) missense probably benign
R2005:Rnf19a UTSW 15 36,241,916 (GRCm39) missense possibly damaging 0.52
R2110:Rnf19a UTSW 15 36,254,665 (GRCm39) missense possibly damaging 0.79
R3118:Rnf19a UTSW 15 36,242,045 (GRCm39) nonsense probably null
R3776:Rnf19a UTSW 15 36,266,058 (GRCm39) missense probably benign 0.03
R4005:Rnf19a UTSW 15 36,245,774 (GRCm39) missense probably damaging 0.98
R5184:Rnf19a UTSW 15 36,244,342 (GRCm39) missense probably benign 0.05
R5386:Rnf19a UTSW 15 36,242,185 (GRCm39) missense probably benign 0.01
R5647:Rnf19a UTSW 15 36,266,109 (GRCm39) start gained probably benign
R6451:Rnf19a UTSW 15 36,253,205 (GRCm39) missense possibly damaging 0.64
R7003:Rnf19a UTSW 15 36,254,650 (GRCm39) nonsense probably null
R7304:Rnf19a UTSW 15 36,254,598 (GRCm39) missense probably damaging 0.98
R7893:Rnf19a UTSW 15 36,241,814 (GRCm39) missense possibly damaging 0.95
R8808:Rnf19a UTSW 15 36,242,021 (GRCm39) missense probably benign 0.00
R8864:Rnf19a UTSW 15 36,265,452 (GRCm39) missense possibly damaging 0.80
R8940:Rnf19a UTSW 15 36,260,284 (GRCm39) missense probably damaging 1.00
R9063:Rnf19a UTSW 15 36,265,615 (GRCm39) nonsense probably null
R9093:Rnf19a UTSW 15 36,253,450 (GRCm39) intron probably benign
R9135:Rnf19a UTSW 15 36,253,310 (GRCm39) critical splice acceptor site probably null
R9525:Rnf19a UTSW 15 36,247,375 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATGTCTGAGGGAAGCGCTG -3'
(R):5'- GGATTGTGTGAGAAATTACTTCAGC -3'

Sequencing Primer
(F):5'- AGCCTTAAAACTAGGTTCTCCAG -3'
(R):5'- TCAGCTTTCTTATATGAGAAGAACTG -3'
Posted On 2016-07-22