Incidental Mutation 'R1500:Rnf19b'
ID 169169
Institutional Source Beutler Lab
Gene Symbol Rnf19b
Ensembl Gene ENSMUSG00000028793
Gene Name ring finger protein 19B
Synonyms 4930555L03Rik, Ibrdc3, 4930534K13Rik
MMRRC Submission 039551-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R1500 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 128951871-128978319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128972754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 255 (L255P)
Ref Sequence ENSEMBL: ENSMUSP00000119611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030584] [ENSMUST00000097874] [ENSMUST00000152565] [ENSMUST00000168461]
AlphaFold A2A7Q9
Predicted Effect probably damaging
Transcript: ENSMUST00000030584
AA Change: L437P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030584
Gene: ENSMUSG00000028793
AA Change: L437P

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: L256P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095484
Gene: ENSMUSG00000028793
AA Change: L256P

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 damaging
Transcript: ENSMUST00000152565
AA Change: L255P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119611
Gene: ENSMUSG00000028793
AA Change: L255P

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: L436P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131373
Gene: ENSMUSG00000028793
AA Change: L436P

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
Meta Mutation Damage Score 0.9172 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.1%
Validation Efficiency 95% (81/85)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 A G 17: 31,330,253 (GRCm39) D518G probably benign Het
Acaca T A 11: 84,184,810 (GRCm39) D96E probably benign Het
Actbl2 G A 13: 111,391,854 (GRCm39) R63Q probably damaging Het
Adamts6 T A 13: 104,449,389 (GRCm39) H266Q probably damaging Het
Aff4 T C 11: 53,263,205 (GRCm39) V75A probably benign Het
Ank2 A G 3: 126,726,631 (GRCm39) S888P probably benign Het
Ano7 T C 1: 93,325,050 (GRCm39) F534S probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Bcam T A 7: 19,492,889 (GRCm39) D484V possibly damaging Het
Bltp2 C A 11: 78,174,958 (GRCm39) Q1698K possibly damaging Het
Ccdc88a T C 11: 29,432,713 (GRCm39) Y1240H probably benign Het
Cfh T C 1: 140,028,614 (GRCm39) Y500C probably damaging Het
Chd1l G A 3: 97,490,121 (GRCm39) A478V probably benign Het
Dnah1 T C 14: 31,038,715 (GRCm39) D122G probably benign Het
Dnah11 A T 12: 117,976,564 (GRCm39) probably null Het
Dnah17 T C 11: 117,991,879 (GRCm39) K1230E probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
E330020D12Rik A T 1: 153,284,125 (GRCm39) noncoding transcript Het
Ece2 T C 16: 20,462,992 (GRCm39) L639P probably damaging Het
Epha3 A T 16: 63,416,025 (GRCm39) V658E probably benign Het
Erbb2 C T 11: 98,319,804 (GRCm39) T632I probably damaging Het
Erc2 A G 14: 27,993,617 (GRCm39) T883A probably damaging Het
Extl2 T C 3: 115,820,789 (GRCm39) V198A probably benign Het
Fktn G T 4: 53,735,065 (GRCm39) M234I probably benign Het
Ggt7 A G 2: 155,340,966 (GRCm39) S400P probably benign Het
Gldc A C 19: 30,091,225 (GRCm39) V790G possibly damaging Het
Gm14496 A C 2: 181,633,026 (GRCm39) Q3P probably benign Het
H2-D1 G A 17: 35,482,564 (GRCm39) E95K probably benign Het
Ikzf3 T C 11: 98,409,521 (GRCm39) E14G probably benign Het
Jag1 A T 2: 136,957,558 (GRCm39) N51K possibly damaging Het
Khdrbs3 A G 15: 68,800,635 (GRCm39) D14G possibly damaging Het
Krt84 A G 15: 101,438,659 (GRCm39) V276A probably damaging Het
Lamb1 T C 12: 31,348,948 (GRCm39) I660T possibly damaging Het
Lcmt2 A T 2: 120,970,488 (GRCm39) S198R probably benign Het
Lcn6 G A 2: 25,567,131 (GRCm39) R44H probably benign Het
Lrfn5 A T 12: 61,886,527 (GRCm39) H105L probably damaging Het
Lrit1 G A 14: 36,784,091 (GRCm39) R473K probably benign Het
Marchf1 A G 8: 66,921,042 (GRCm39) T495A probably damaging Het
Marveld3 T G 8: 110,675,174 (GRCm39) probably null Het
Mbd3 T C 10: 80,230,420 (GRCm39) D160G possibly damaging Het
Mrc2 T G 11: 105,238,551 (GRCm39) C1233G probably damaging Het
Ms4a13 T G 19: 11,161,225 (GRCm39) T105P probably damaging Het
Mtbp T C 15: 55,480,951 (GRCm39) Y306H probably damaging Het
Muc3a T C 5: 137,244,958 (GRCm39) probably benign Het
Myo1g T A 11: 6,470,811 (GRCm39) Y15F probably benign Het
Nae1 A T 8: 105,250,216 (GRCm39) Y226N probably benign Het
Nlrp9a A G 7: 26,267,316 (GRCm39) S715G probably benign Het
Or1j10 A T 2: 36,267,633 (GRCm39) M282L probably benign Het
Or2ag17 T C 7: 106,390,028 (GRCm39) Y60C probably damaging Het
Or4s2b T A 2: 88,508,219 (GRCm39) S7T possibly damaging Het
Or7g26 A T 9: 19,230,612 (GRCm39) S267C probably damaging Het
Or8g55 G T 9: 39,784,707 (GRCm39) M45I probably benign Het
Pex5l T C 3: 33,069,129 (GRCm39) T123A probably damaging Het
Pip5kl1 A T 2: 32,466,691 (GRCm39) N62I probably benign Het
Pkhd1l1 T C 15: 44,408,890 (GRCm39) V2459A probably damaging Het
Prb1a T A 6: 132,184,439 (GRCm39) Q398L unknown Het
Prkab2 T C 3: 97,571,263 (GRCm39) L165S probably damaging Het
Prl3d2 C G 13: 27,305,689 (GRCm39) probably benign Het
Ptdss1 G A 13: 67,143,472 (GRCm39) G435D probably benign Het
Qrfpr A G 3: 36,236,729 (GRCm39) L224P probably damaging Het
Rasl2-9 C T 7: 5,128,441 (GRCm39) W163* probably null Het
Rgs5 A G 1: 169,517,983 (GRCm39) probably null Het
Rp9 A C 9: 22,368,751 (GRCm39) N69K probably damaging Het
Sh3bp4 G T 1: 89,073,210 (GRCm39) S686I probably damaging Het
Shfl AGAGGAGGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGAGGA 9: 20,785,013 (GRCm39) probably benign Het
Spp2 C A 1: 88,340,015 (GRCm39) Q5K possibly damaging Het
Svep1 C T 4: 58,070,239 (GRCm39) G2516R probably damaging Het
Syncrip A C 9: 88,361,949 (GRCm39) S55R probably damaging Het
Tacc3 T C 5: 33,818,652 (GRCm39) L29P probably damaging Het
Tex15 A G 8: 34,065,120 (GRCm39) T1517A probably damaging Het
Tmem140 A G 6: 34,849,660 (GRCm39) M59V probably benign Het
Ttn G T 2: 76,575,872 (GRCm39) A25007E probably damaging Het
Ubr2 T C 17: 47,297,615 (GRCm39) T253A possibly damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Usp38 A G 8: 81,722,399 (GRCm39) L374P probably damaging Het
Vmn1r42 T A 6: 89,822,483 (GRCm39) I29L probably benign Het
Vmn2r94 C T 17: 18,477,242 (GRCm39) V390M probably benign Het
Vmp1 A G 11: 86,552,026 (GRCm39) Y113H possibly damaging Het
Wdr20 T C 12: 110,760,464 (GRCm39) M450T probably benign Het
Ylpm1 T C 12: 85,061,770 (GRCm39) V557A unknown Het
Zpld1 T C 16: 55,053,935 (GRCm39) N286D 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
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
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
Predicted Primers PCR Primer
(F):5'- TCTGCTCCTGTGTTATACCAGATAGCC -3'
(R):5'- GAAGCCCTATTGCCTCATACCTGC -3'

Sequencing Primer
(F):5'- TACCAGATAGCCTCTTCAGATGG -3'
(R):5'- GCTCATTATCCAAAGAAATCCAGTG -3'
Posted On 2014-04-13