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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |