Incidental Mutation 'IGL02576:Rnf19b'
ID299192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf19b
Ensembl Gene ENSMUSG00000028793
Gene Namering finger protein 19B
Synonyms4930555L03Rik, Ibrdc3, 4930534K13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.187) question?
Stock #IGL02576
Quality Score
Status
Chromosome4
Chromosomal Location129058271-129085886 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 129073522 bp
ZygosityHeterozygous
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]
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: 120,433,455 I232M probably benign Het
Ace G A 11: 105,974,111 V537M probably damaging Het
Alg1 A G 16: 5,244,529 E425G possibly damaging Het
Cacng3 G A 7: 122,671,910 S46N probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cfap65 A G 1: 74,903,458 S1646P probably damaging Het
Col20a1 C T 2: 181,013,405 Q1152* probably null Het
D130043K22Rik A C 13: 24,856,870 T92P possibly damaging Het
Drc3 T C 11: 60,370,551 M176T probably benign Het
Esyt3 T C 9: 99,315,225 R851G probably benign Het
Fbxo43 A G 15: 36,152,175 V496A probably benign Het
Fut4 T A 9: 14,751,405 M198L probably damaging Het
Galt C T 4: 41,755,953 probably benign Het
Glipr1l1 A G 10: 112,060,319 K4E possibly damaging Het
Gm9945 A G 11: 53,480,351 probably benign Het
Hspa12a A C 19: 58,799,410 I660R possibly damaging Het
Htr3b T C 9: 48,945,504 I225V possibly damaging Het
Igf2r T C 17: 12,748,763 D23G possibly damaging Het
Igsf5 A G 16: 96,386,581 I158V probably benign Het
Itgae A G 11: 73,118,505 Y505C possibly damaging Het
Kif16b A G 2: 142,862,545 probably benign Het
Kif26b T C 1: 178,916,347 V1336A probably benign Het
Kmt2d A G 15: 98,864,120 S450P unknown Het
Lexm T C 4: 106,591,628 D411G possibly damaging Het
Lhfpl2 G A 13: 94,174,226 M1I probably null Het
Lig4 A G 8: 9,971,116 I888T probably damaging Het
Msh4 G A 3: 153,867,746 T563M probably damaging Het
Muc5ac C T 7: 141,817,044 A3238V probably benign Het
Myo15b A G 11: 115,890,053 S1246G probably null Het
Olfr193 T C 16: 59,109,771 I280V probably benign Het
Pecam1 G A 11: 106,671,774 T599M probably damaging Het
Phf3 G A 1: 30,830,036 P644S probably benign Het
Pkd1l1 A C 11: 8,844,560 F2317C possibly damaging Het
Prdm4 A G 10: 85,900,937 M613T possibly damaging Het
Prim2 A T 1: 33,484,717 I371N probably damaging Het
Ptprs T C 17: 56,414,958 D1316G probably damaging Het
Secisbp2 A G 13: 51,670,858 N381D possibly damaging Het
Slc28a2 T C 2: 122,458,171 I586T probably damaging Het
Spef1 T C 2: 131,174,642 H11R possibly damaging Het
Taar4 T C 10: 23,961,011 L173S probably damaging Het
Tas2r123 T C 6: 132,847,740 F200S possibly damaging Het
Tex16 T A X: 112,118,956 L384Q probably benign Het
Tox2 A G 2: 163,276,180 Q168R probably damaging Het
Trim5 T A 7: 104,278,417 E172V probably damaging Het
Txndc11 G A 16: 11,075,017 probably benign Het
Vmn1r232 T A 17: 20,913,913 I142F probably benign Het
Zdhhc25 A T 15: 88,601,269 H269L probably benign Het
Znrf4 T C 17: 56,512,199 D36G probably damaging Het
Other mutations in Rnf19b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00939:Rnf19b APN 4 129071789 missense probably damaging 1.00
IGL01478:Rnf19b APN 4 129058830 missense probably damaging 1.00
IGL01511:Rnf19b APN 4 129080418 missense probably damaging 1.00
IGL02052:Rnf19b APN 4 129071820 missense probably damaging 1.00
IGL03140:Rnf19b APN 4 129084096 missense probably benign 0.01
PIT4519001:Rnf19b UTSW 4 129075653 missense probably damaging 1.00
R0632:Rnf19b UTSW 4 129073551 missense probably damaging 1.00
R1187:Rnf19b UTSW 4 129075567 splice site probably null
R1500:Rnf19b UTSW 4 129078961 missense probably damaging 1.00
R4560:Rnf19b UTSW 4 129071823 missense probably damaging 1.00
R5185:Rnf19b UTSW 4 129083920 nonsense probably null
R5726:Rnf19b UTSW 4 129071892 missense possibly damaging 0.83
R5805:Rnf19b UTSW 4 129058824 missense probably damaging 1.00
R6737:Rnf19b UTSW 4 129085551 unclassified probably benign
R6941:Rnf19b UTSW 4 129082779 missense probably benign 0.01
R7235:Rnf19b UTSW 4 129083778 missense
Z1176:Rnf19b UTSW 4 129078905 critical splice acceptor site unknown
Posted On2015-04-16