Incidental Mutation 'IGL03140:Rnf19b'
ID 410668
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 # IGL03140
Quality Score
Status
Chromosome 4
Chromosomal Location 128951871-128978319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128977889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 701 (V701D)
Ref Sequence ENSEMBL: ENSMUSP00000131373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030584] [ENSMUST00000097874] [ENSMUST00000152565] [ENSMUST00000168461]
AlphaFold A2A7Q9
Predicted Effect probably benign
Transcript: ENSMUST00000030584
AA Change: V702D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000030584
Gene: ENSMUSG00000028793
AA Change: V702D

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 benign
Transcript: ENSMUST00000097874
AA Change: V521D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095484
Gene: ENSMUSG00000028793
AA Change: V521D

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 benign
Transcript: ENSMUST00000130803
SMART Domains Protein: ENSMUSP00000121004
Gene: ENSMUSG00000028793

DomainStartEndE-ValueType
low complexity region 72 95 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147238
Predicted Effect probably benign
Transcript: ENSMUST00000152565
SMART Domains Protein: ENSMUSP00000119611
Gene: ENSMUSG00000028793

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 benign
Transcript: ENSMUST00000168461
AA Change: V701D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000131373
Gene: ENSMUSG00000028793
AA Change: V701D

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 8,982,576 (GRCm39) probably benign Het
Cd48 T C 1: 171,523,451 (GRCm39) V98A probably damaging Het
Chd9 A T 8: 91,768,856 (GRCm39) R2485S possibly damaging Het
Clec4a2 T C 6: 123,117,735 (GRCm39) probably benign Het
Ddx21 A G 10: 62,429,850 (GRCm39) L298S probably damaging Het
Efl1 A G 7: 82,342,089 (GRCm39) E499G probably benign Het
Fry A G 5: 150,419,166 (GRCm39) N2870S probably damaging Het
Ints8 G A 4: 11,235,565 (GRCm39) P355S probably damaging Het
Kmo T A 1: 175,476,786 (GRCm39) V200D probably damaging Het
Ldlrad4 A G 18: 68,387,585 (GRCm39) D299G probably damaging Het
Mus81 T C 19: 5,533,984 (GRCm39) T416A probably damaging Het
Nlrp6 T C 7: 140,507,400 (GRCm39) S889P probably benign Het
Nlrp9c T A 7: 26,079,914 (GRCm39) D704V probably benign Het
Olfml2a A G 2: 38,837,303 (GRCm39) K149E probably damaging Het
Ovgp1 A G 3: 105,887,222 (GRCm39) D206G probably damaging Het
Pcdhb3 T G 18: 37,434,272 (GRCm39) H79Q probably benign Het
Pira13 T C 7: 3,826,247 (GRCm39) N249D probably benign Het
Setd2 T C 9: 110,444,020 (GRCm39) probably null Het
Ubr3 A G 2: 69,800,533 (GRCm39) Y952C probably damaging Het
Vmn1r205 T C 13: 22,776,746 (GRCm39) I119V possibly damaging Het
Zfhx4 T G 3: 5,307,585 (GRCm39) D270E 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
IGL02576:Rnf19b APN 4 128,967,315 (GRCm39) nonsense probably null
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 2016-08-02