Incidental Mutation 'IGL01478:Rnf19b'
| ID |
88524 |
| 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 # |
IGL01478
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
128951871-128978319 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128952623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 187
(E187G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030584]
[ENSMUST00000097874]
[ENSMUST00000152565]
[ENSMUST00000168461]
|
| AlphaFold |
A2A7Q9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030584
AA Change: E187G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030584
Gene: ENSMUSG00000028793
AA Change: E187G
| 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: E6G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095484
Gene: ENSMUSG00000028793
AA Change: E6G
| 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 |
noncoding transcript
Transcript: ENSMUST00000149472
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152565
AA Change: E6G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119611
Gene: ENSMUSG00000028793
AA Change: E6G
| 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: E187G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131373
Gene: ENSMUSG00000028793
AA Change: E187G
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,911,590 (GRCm39) |
T613A |
probably benign |
Het |
| Cdh16 |
G |
T |
8: 105,341,120 (GRCm39) |
|
probably benign |
Het |
| Epn2 |
A |
G |
11: 61,413,912 (GRCm39) |
S419P |
probably benign |
Het |
| Eral1 |
A |
T |
11: 77,966,558 (GRCm39) |
V234D |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,678,949 (GRCm39) |
K576E |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,305,254 (GRCm39) |
D170V |
probably damaging |
Het |
| Gm4353 |
A |
G |
7: 115,682,975 (GRCm39) |
V202A |
possibly damaging |
Het |
| Ighmbp2 |
A |
G |
19: 3,324,531 (GRCm39) |
I245T |
probably benign |
Het |
| Igsf23 |
G |
A |
7: 19,672,161 (GRCm39) |
|
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,754,721 (GRCm39) |
|
probably benign |
Het |
| Mapk8 |
A |
G |
14: 33,105,857 (GRCm39) |
V371A |
probably benign |
Het |
| Mtrf1 |
T |
G |
14: 79,640,360 (GRCm39) |
|
probably benign |
Het |
| Myzap |
A |
G |
9: 71,422,349 (GRCm39) |
|
probably null |
Het |
| Nsrp1 |
C |
T |
11: 76,941,478 (GRCm39) |
V73I |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,555 (GRCm39) |
I128T |
probably damaging |
Het |
| Or8k39 |
A |
T |
2: 86,563,673 (GRCm39) |
Y94* |
probably null |
Het |
| Pex6 |
C |
T |
17: 47,036,230 (GRCm39) |
R976C |
probably benign |
Het |
| Ranbp9 |
G |
A |
13: 43,567,560 (GRCm39) |
T546I |
probably benign |
Het |
| Rfx5 |
T |
C |
3: 94,865,751 (GRCm39) |
V350A |
possibly damaging |
Het |
| Sbf1 |
A |
G |
15: 89,183,946 (GRCm39) |
V1217A |
probably damaging |
Het |
| Sfmbt1 |
T |
A |
14: 30,533,478 (GRCm39) |
D618E |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,493,672 (GRCm39) |
E1697G |
probably benign |
Het |
| Syk |
A |
G |
13: 52,778,784 (GRCm39) |
Y290C |
probably benign |
Het |
| Trim69 |
T |
C |
2: 122,008,924 (GRCm39) |
L328P |
probably damaging |
Het |
| Unc5c |
T |
A |
3: 141,534,212 (GRCm39) |
I911N |
probably damaging |
Het |
| Wdr5 |
T |
C |
2: 27,423,844 (GRCm39) |
V294A |
probably 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 |
|
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 |
|
|
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 |
2013-11-18 |
Incidental Mutation