Incidental Mutation 'R8509:Rnf19b'
| ID |
655750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf19b
|
| Ensembl Gene |
ENSMUSG00000028793 |
| Gene Name |
ring finger protein 19B |
| Synonyms |
4930555L03Rik, Ibrdc3, 4930534K13Rik |
| MMRRC Submission |
067944-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R8509 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
128951871-128978319 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128967369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 304
(C304S)
|
| 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: C304S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030584
Gene: ENSMUSG00000028793
AA Change: C304S
| 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: C123S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095484
Gene: ENSMUSG00000028793
AA Change: C123S
| 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 damaging
Transcript: ENSMUST00000152565
AA Change: C122S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119611
Gene: ENSMUSG00000028793
AA Change: C122S
| 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: C303S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131373
Gene: ENSMUSG00000028793
AA Change: C303S
| 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 |
|
| Meta Mutation Damage Score |
0.9669 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
T |
C |
7: 115,703,669 (GRCm39) |
S181P |
possibly damaging |
Het |
| Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
| Ano3 |
T |
C |
2: 110,496,180 (GRCm39) |
E858G |
possibly damaging |
Het |
| Asrgl1 |
T |
C |
19: 9,091,590 (GRCm39) |
K244E |
probably damaging |
Het |
| BC048679 |
T |
A |
7: 81,145,116 (GRCm39) |
T82S |
probably benign |
Het |
| Brip1 |
A |
T |
11: 86,088,774 (GRCm39) |
C42* |
probably null |
Het |
| Cabcoco1 |
T |
C |
10: 68,267,119 (GRCm39) |
E296G |
probably damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,029,714 (GRCm39) |
N116S |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,695,876 (GRCm39) |
E214G |
probably benign |
Het |
| Cyp11b1 |
A |
G |
15: 74,711,202 (GRCm39) |
F159L |
possibly damaging |
Het |
| Dmxl2 |
C |
A |
9: 54,335,341 (GRCm39) |
E660* |
probably null |
Het |
| Dnah14 |
C |
T |
1: 181,642,220 (GRCm39) |
T112M |
|
Het |
| Fancd2 |
A |
G |
6: 113,549,531 (GRCm39) |
T74A |
probably benign |
Het |
| Fat4 |
G |
T |
3: 39,036,052 (GRCm39) |
V3235L |
probably benign |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gmcl1 |
A |
C |
6: 86,699,589 (GRCm39) |
I146S |
probably damaging |
Het |
| Hbb-bs |
T |
A |
7: 103,475,919 (GRCm39) |
K133* |
probably null |
Het |
| Hey1 |
G |
C |
3: 8,729,836 (GRCm39) |
A207G |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,449,302 (GRCm39) |
K5446* |
probably null |
Het |
| Hyal6 |
A |
T |
6: 24,734,605 (GRCm39) |
E179D |
probably damaging |
Het |
| Inpp5b |
T |
A |
4: 124,637,698 (GRCm39) |
|
probably null |
Het |
| Lrba |
A |
G |
3: 86,255,483 (GRCm39) |
K942E |
probably benign |
Het |
| Lrrcc1 |
A |
G |
3: 14,601,567 (GRCm39) |
N110S |
probably damaging |
Het |
| Mcoln3 |
A |
G |
3: 145,830,647 (GRCm39) |
I126V |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,572,048 (GRCm39) |
I242V |
probably benign |
Het |
| Ndufb4 |
A |
G |
16: 37,469,506 (GRCm39) |
I66T |
probably benign |
Het |
| Npffr2 |
T |
C |
5: 89,731,188 (GRCm39) |
S373P |
possibly damaging |
Het |
| Or5d20-ps1 |
T |
C |
2: 87,931,866 (GRCm39) |
Y155C |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,172,008 (GRCm39) |
I579N |
|
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ripk2 |
T |
C |
4: 16,124,436 (GRCm39) |
E424G |
probably benign |
Het |
| Rtp1 |
T |
C |
16: 23,248,064 (GRCm39) |
W46R |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,592,664 (GRCm39) |
|
probably null |
Het |
| Sbf1 |
A |
T |
15: 89,177,660 (GRCm39) |
D1674E |
probably damaging |
Het |
| Sgf29 |
T |
A |
7: 126,270,834 (GRCm39) |
|
probably benign |
Het |
| Slc22a8 |
T |
C |
19: 8,585,339 (GRCm39) |
|
probably null |
Het |
| Smg6 |
T |
C |
11: 74,932,702 (GRCm39) |
S998P |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,126,950 (GRCm39) |
V2020A |
probably benign |
Het |
| Srgap3 |
G |
A |
6: 112,708,297 (GRCm39) |
Q801* |
probably null |
Het |
| Taf4b |
A |
G |
18: 15,031,112 (GRCm39) |
D832G |
probably damaging |
Het |
| Trim12a |
T |
C |
7: 103,955,234 (GRCm39) |
D163G |
probably benign |
Het |
| Trim46 |
A |
G |
3: 89,153,020 (GRCm39) |
|
probably null |
Het |
| Trpm4 |
A |
G |
7: 44,971,785 (GRCm39) |
V274A |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,680,788 (GRCm39) |
D2128G |
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 |
|
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 |
|
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'- ACACACTTTGGGATCGTCAG -3'
(R):5'- GTGCTTTAAAGGAGCGTCTTAC -3'
Sequencing Primer
(F):5'- CTTTGGGATCGTCAGGCAAAATCTC -3'
(R):5'- AAAGGAGCGTCTTACAATTTCCTCC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation