Incidental Mutation 'IGL02052:Rnf19b'
ID 185110
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 # IGL02052
Quality Score
Status
Chromosome 4
Chromosomal Location 128951871-128978319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128965613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 237 (H237R)
Ref Sequence ENSEMBL: ENSMUSP00000030584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030584] [ENSMUST00000097874] [ENSMUST00000152565] [ENSMUST00000168461]
AlphaFold A2A7Q9
Predicted Effect probably damaging
Transcript: ENSMUST00000030584
AA Change: H237R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030584
Gene: ENSMUSG00000028793
AA Change: H237R

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 damaging
Transcript: ENSMUST00000097874
AA Change: H56R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095484
Gene: ENSMUSG00000028793
AA Change: H56R

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 possibly damaging
Transcript: ENSMUST00000152565
AA Change: H56R

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119611
Gene: ENSMUSG00000028793
AA Change: H56R

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 damaging
Transcript: ENSMUST00000168461
AA Change: H237R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131373
Gene: ENSMUSG00000028793
AA Change: H237R

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef37 C T 18: 61,632,839 (GRCm39) V533M probably damaging Het
Bicd2 A G 13: 49,532,665 (GRCm39) D343G possibly damaging Het
Ccl26 C T 5: 135,592,193 (GRCm39) S48N possibly damaging Het
Cdkn1b A T 6: 134,897,970 (GRCm39) R30* probably null Het
Cds1 G T 5: 101,962,338 (GRCm39) V318L probably benign Het
Ceacam11 A G 7: 17,707,548 (GRCm39) S111G probably benign Het
Cntn1 A C 15: 92,189,584 (GRCm39) I636L possibly damaging Het
Cog2 G A 8: 125,269,627 (GRCm39) probably null Het
Cyp2g1 G A 7: 26,513,719 (GRCm39) probably benign Het
Ddx54 T C 5: 120,763,783 (GRCm39) V644A possibly damaging Het
Dnah1 T C 14: 30,990,743 (GRCm39) Q3192R probably damaging Het
Dyrk2 T G 10: 118,696,448 (GRCm39) H270P probably damaging Het
Ephb6 A G 6: 41,590,256 (GRCm39) T3A probably benign Het
Fam120a G A 13: 49,087,421 (GRCm39) probably benign Het
Fam184a A G 10: 53,573,216 (GRCm39) probably benign Het
Fmo1 A G 1: 162,677,629 (GRCm39) probably null Het
Gaa A G 11: 119,175,021 (GRCm39) Y874C possibly damaging Het
Gabrr1 T A 4: 33,152,567 (GRCm39) I169N probably damaging Het
Gm13734 T C 2: 86,966,665 (GRCm39) probably null Het
Gnb1 T C 4: 155,618,148 (GRCm39) probably benign Het
Hecw2 G T 1: 53,965,670 (GRCm39) F385L probably benign Het
Kif5a C T 10: 127,079,368 (GRCm39) V277M probably damaging Het
Mogat2 A T 7: 98,887,771 (GRCm39) M1K probably null Het
Mrgprx2 A T 7: 48,132,042 (GRCm39) W259R possibly damaging Het
Nf1 T C 11: 79,303,553 (GRCm39) L410S probably damaging Het
Ntn4 T G 10: 93,543,211 (GRCm39) N312K probably damaging Het
Papss2 T C 19: 32,637,983 (GRCm39) V365A possibly damaging Het
Pde4c A G 8: 71,201,062 (GRCm39) N420S probably damaging Het
Plec C T 15: 76,064,541 (GRCm39) R1911H probably damaging Het
Pramel21 A C 4: 143,341,643 (GRCm39) D24A probably benign Het
Slfn4 T C 11: 83,077,800 (GRCm39) L196P possibly damaging Het
Steap2 G T 5: 5,723,586 (GRCm39) F431L probably damaging Het
Tex15 A G 8: 34,072,493 (GRCm39) E2680G probably benign Het
Tmprss15 A T 16: 78,884,394 (GRCm39) I96N probably damaging Het
Trim34a T G 7: 103,897,038 (GRCm39) V34G probably benign Het
Ttyh1 A G 7: 4,133,573 (GRCm39) probably benign Het
Usp29 A C 7: 6,965,525 (GRCm39) H456P probably benign Het
Wdfy1 A G 1: 79,692,661 (GRCm39) S219P probably damaging Het
Zfp738 A T 13: 67,819,600 (GRCm39) S117R possibly 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
IGL02576:Rnf19b APN 4 128,967,315 (GRCm39) nonsense probably null
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 2014-05-07