Incidental Mutation 'IGL02576:Rnf19b'
ID 299192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf19b
Ensembl Gene ENSMUSG00000028793
Gene Name ring finger protein 19B
Synonyms 4930555L03Rik, Ibrdc3, 4930534K13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # IGL02576
Quality Score
Status
Chromosome 4
Chromosomal Location 128951871-128978319 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 128967315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 285 (R285*)
Ref Sequence ENSEMBL: ENSMUSP00000131373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030584] [ENSMUST00000097874] [ENSMUST00000152565] [ENSMUST00000168461]
AlphaFold A2A7Q9
Predicted Effect probably null
Transcript: ENSMUST00000030584
AA Change: R286*
SMART Domains Protein: ENSMUSP00000030584
Gene: ENSMUSG00000028793
AA Change: R286*

DomainStartEndE-ValueType
low complexity region 52 115 N/A INTRINSIC
RING 116 163 4.84e-3 SMART
IBR 183 248 5.61e-24 SMART
IBR 251 330 6.35e-2 SMART
transmembrane domain 356 378 N/A INTRINSIC
transmembrane domain 399 421 N/A INTRINSIC
low complexity region 511 534 N/A INTRINSIC
low complexity region 616 633 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000097874
AA Change: R105*
SMART Domains Protein: ENSMUSP00000095484
Gene: ENSMUSG00000028793
AA Change: R105*

DomainStartEndE-ValueType
IBR 2 67 5.61e-24 SMART
IBR 70 149 6.35e-2 SMART
transmembrane domain 175 197 N/A INTRINSIC
transmembrane domain 218 240 N/A INTRINSIC
low complexity region 330 353 N/A INTRINSIC
low complexity region 435 452 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000152565
AA Change: R104*
SMART Domains Protein: ENSMUSP00000119611
Gene: ENSMUSG00000028793
AA Change: R104*

DomainStartEndE-ValueType
IBR 2 67 5.61e-24 SMART
IBR 70 148 4.95e-2 SMART
transmembrane domain 174 196 N/A INTRINSIC
transmembrane domain 217 239 N/A INTRINSIC
low complexity region 329 352 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000168461
AA Change: R285*
SMART Domains Protein: ENSMUSP00000131373
Gene: ENSMUSG00000028793
AA Change: R285*

DomainStartEndE-ValueType
low complexity region 52 115 N/A INTRINSIC
RING 116 163 4.84e-3 SMART
IBR 183 248 5.61e-24 SMART
IBR 251 329 4.95e-2 SMART
transmembrane domain 355 377 N/A INTRINSIC
transmembrane domain 398 420 N/A INTRINSIC
low complexity region 510 533 N/A INTRINSIC
low complexity region 615 632 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.] This gene encodes a multi-pass membrane protein containing two RING-type and one IBR-type zinc finger motifs. The encoded protin is an E3 ubiquitin-protein ligase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes X and Y in a possible pseudoautosomal region. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired NK cell cytolysis and an impaired ability to control introduced tumor cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,032,678 (GRCm39) I232M probably benign Het
Ace G A 11: 105,864,937 (GRCm39) V537M probably damaging Het
Alg1 A G 16: 5,062,393 (GRCm39) E425G possibly damaging Het
Cacng3 G A 7: 122,271,133 (GRCm39) S46N probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cfap65 A G 1: 74,942,617 (GRCm39) S1646P probably damaging Het
Cimap2 T C 4: 106,448,825 (GRCm39) D411G possibly damaging Het
Col20a1 C T 2: 180,655,198 (GRCm39) Q1152* probably null Het
D130043K22Rik A C 13: 25,040,853 (GRCm39) T92P possibly damaging Het
Drc3 T C 11: 60,261,377 (GRCm39) M176T probably benign Het
Esyt3 T C 9: 99,197,278 (GRCm39) R851G probably benign Het
Fbxo43 A G 15: 36,152,321 (GRCm39) V496A probably benign Het
Fut4 T A 9: 14,662,701 (GRCm39) M198L probably damaging Het
Galt C T 4: 41,755,953 (GRCm39) probably benign Het
Glipr1l1 A G 10: 111,896,224 (GRCm39) K4E possibly damaging Het
Gm9945 A G 11: 53,371,178 (GRCm39) probably benign Het
Hspa12a A C 19: 58,787,842 (GRCm39) I660R possibly damaging Het
Htr3b T C 9: 48,856,804 (GRCm39) I225V possibly damaging Het
Igf2r T C 17: 12,967,650 (GRCm39) D23G possibly damaging Het
Igsf5 A G 16: 96,187,781 (GRCm39) I158V probably benign Het
Itgae A G 11: 73,009,331 (GRCm39) Y505C possibly damaging Het
Kif16b A G 2: 142,704,465 (GRCm39) probably benign Het
Kif26b T C 1: 178,743,912 (GRCm39) V1336A probably benign Het
Kmt2d A G 15: 98,762,001 (GRCm39) S450P unknown Het
Lhfpl2 G A 13: 94,310,734 (GRCm39) M1I probably null Het
Lig4 A G 8: 10,021,116 (GRCm39) I888T probably damaging Het
Msh4 G A 3: 153,573,383 (GRCm39) T563M probably damaging Het
Muc5ac C T 7: 141,370,781 (GRCm39) A3238V probably benign Het
Myo15b A G 11: 115,780,879 (GRCm39) S1246G probably null Het
Or5h25 T C 16: 58,930,134 (GRCm39) I280V probably benign Het
Pecam1 G A 11: 106,562,600 (GRCm39) T599M probably damaging Het
Phf3 G A 1: 30,869,117 (GRCm39) P644S probably benign Het
Pkd1l1 A C 11: 8,794,560 (GRCm39) F2317C possibly damaging Het
Prdm4 A G 10: 85,736,801 (GRCm39) M613T possibly damaging Het
Prim2 A T 1: 33,523,798 (GRCm39) I371N probably damaging Het
Ptprs T C 17: 56,721,958 (GRCm39) D1316G probably damaging Het
Secisbp2 A G 13: 51,824,894 (GRCm39) N381D possibly damaging Het
Slc28a2 T C 2: 122,288,652 (GRCm39) I586T probably damaging Het
Spef1 T C 2: 131,016,562 (GRCm39) H11R possibly damaging Het
Taar4 T C 10: 23,836,909 (GRCm39) L173S probably damaging Het
Tas2r123 T C 6: 132,824,703 (GRCm39) F200S possibly damaging Het
Tex16 T A X: 111,028,653 (GRCm39) L384Q probably benign Het
Tox2 A G 2: 163,118,100 (GRCm39) Q168R probably damaging Het
Trim5 T A 7: 103,927,624 (GRCm39) E172V probably damaging Het
Txndc11 G A 16: 10,892,881 (GRCm39) probably benign Het
Vmn1r232 T A 17: 21,134,175 (GRCm39) I142F probably benign Het
Zdhhc25 A T 15: 88,485,472 (GRCm39) H269L probably benign Het
Znrf4 T C 17: 56,819,199 (GRCm39) D36G probably damaging Het
Other mutations in Rnf19b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Rnf19b APN 4 128,965,582 (GRCm39) missense probably damaging 1.00
IGL01478:Rnf19b APN 4 128,952,623 (GRCm39) missense probably damaging 1.00
IGL01511:Rnf19b APN 4 128,974,211 (GRCm39) missense probably damaging 1.00
IGL02052:Rnf19b APN 4 128,965,613 (GRCm39) missense probably damaging 1.00
IGL03140:Rnf19b APN 4 128,977,889 (GRCm39) missense probably benign 0.01
PIT4519001:Rnf19b UTSW 4 128,969,446 (GRCm39) missense probably damaging 1.00
R0632:Rnf19b UTSW 4 128,967,344 (GRCm39) missense probably damaging 1.00
R1187:Rnf19b UTSW 4 128,969,360 (GRCm39) splice site probably null
R1500:Rnf19b UTSW 4 128,972,754 (GRCm39) missense probably damaging 1.00
R4560:Rnf19b UTSW 4 128,965,616 (GRCm39) missense probably damaging 1.00
R5185:Rnf19b UTSW 4 128,977,713 (GRCm39) nonsense probably null
R5726:Rnf19b UTSW 4 128,965,685 (GRCm39) missense possibly damaging 0.83
R5805:Rnf19b UTSW 4 128,952,617 (GRCm39) missense probably damaging 1.00
R6737:Rnf19b UTSW 4 128,979,344 (GRCm39) unclassified probably benign
R6941:Rnf19b UTSW 4 128,976,572 (GRCm39) missense probably benign 0.01
R7235:Rnf19b UTSW 4 128,977,571 (GRCm39) missense
R8145:Rnf19b UTSW 4 128,977,862 (GRCm39) missense probably benign 0.30
R8509:Rnf19b UTSW 4 128,967,369 (GRCm39) missense probably damaging 1.00
R8792:Rnf19b UTSW 4 128,952,478 (GRCm39) missense probably damaging 1.00
R9106:Rnf19b UTSW 4 128,977,940 (GRCm39) missense
R9568:Rnf19b UTSW 4 128,967,397 (GRCm39) missense probably damaging 1.00
R9733:Rnf19b UTSW 4 128,977,812 (GRCm39) missense probably damaging 0.99
Z1176:Rnf19b UTSW 4 128,972,698 (GRCm39) critical splice acceptor site probably null
Posted On 2015-04-16