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)
|
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
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 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
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 |
probably benign
Transcript: ENSMUST00000130803
|
SMART Domains |
Protein: ENSMUSP00000121004 Gene: ENSMUSG00000028793
Domain | Start | End | E-Value | Type |
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
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 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
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |