Incidental Mutation 'R5805:Rnf19b'
| ID |
448440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf19b
|
| Ensembl Gene |
ENSMUSG00000028793 |
| Gene Name |
ring finger protein 19B |
| Synonyms |
4930555L03Rik, Ibrdc3, 4930534K13Rik |
| MMRRC Submission |
043212-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R5805 (G1)
|
| Quality Score |
144 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
128951871-128978319 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128952617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 185
(Y185C)
|
| 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: Y185C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030584
Gene: ENSMUSG00000028793
AA Change: Y185C
| 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: Y4C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095484
Gene: ENSMUSG00000028793
AA Change: Y4C
| 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: Y4C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119611
Gene: ENSMUSG00000028793
AA Change: Y4C
| 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: Y185C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131373
Gene: ENSMUSG00000028793
AA Change: Y185C
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
C |
T |
11: 110,170,216 (GRCm39) |
C1293Y |
probably benign |
Het |
| Adam8 |
T |
A |
7: 139,565,794 (GRCm39) |
D611V |
probably damaging |
Het |
| Arhgap33 |
T |
C |
7: 30,225,839 (GRCm39) |
T576A |
probably benign |
Het |
| Atf7 |
A |
T |
15: 102,466,022 (GRCm39) |
|
probably null |
Het |
| Baiap3 |
T |
A |
17: 25,466,489 (GRCm39) |
T464S |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,136,906 (GRCm39) |
|
probably null |
Het |
| Celf2 |
T |
C |
2: 6,558,598 (GRCm39) |
E430G |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,035,792 (GRCm39) |
T211A |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,257,408 (GRCm39) |
F151S |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,378,965 (GRCm39) |
T175A |
probably damaging |
Het |
| Doc2b |
A |
G |
11: 75,663,364 (GRCm39) |
S363P |
probably damaging |
Het |
| Garem1 |
C |
T |
18: 21,281,492 (GRCm39) |
R288H |
probably benign |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,882,301 (GRCm39) |
C164F |
probably damaging |
Het |
| Itfg1 |
A |
T |
8: 86,493,601 (GRCm39) |
S293T |
probably benign |
Het |
| Kcnn2 |
T |
A |
18: 45,816,198 (GRCm39) |
D336E |
probably damaging |
Het |
| Kifc2 |
C |
T |
15: 76,546,353 (GRCm39) |
A245V |
probably benign |
Het |
| Krt18 |
T |
A |
15: 101,939,735 (GRCm39) |
I311N |
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,900,517 (GRCm39) |
M7T |
possibly damaging |
Het |
| Mef2a |
T |
C |
7: 66,901,416 (GRCm39) |
M285V |
possibly damaging |
Het |
| Micu1 |
A |
C |
10: 59,663,128 (GRCm39) |
K353Q |
possibly damaging |
Het |
| Mpv17l |
A |
G |
16: 13,760,013 (GRCm39) |
|
probably benign |
Het |
| Ntrk1 |
G |
A |
3: 87,687,479 (GRCm39) |
R652W |
probably damaging |
Het |
| Or13a28 |
T |
A |
7: 140,218,384 (GRCm39) |
F257I |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,855,152 (GRCm39) |
I281T |
probably benign |
Het |
| Or4c107 |
G |
A |
2: 88,788,985 (GRCm39) |
M58I |
possibly damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,066,091 (GRCm39) |
T252K |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,434,193 (GRCm39) |
M1392V |
probably benign |
Het |
| Phf20 |
T |
A |
2: 156,149,214 (GRCm39) |
V964E |
probably damaging |
Het |
| Pira13 |
G |
A |
7: 3,825,622 (GRCm39) |
L416F |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,325,234 (GRCm39) |
|
probably null |
Het |
| Rnf10 |
A |
T |
5: 115,382,127 (GRCm39) |
C693S |
probably benign |
Het |
| Ros1 |
G |
T |
10: 51,999,385 (GRCm39) |
D1167E |
probably damaging |
Het |
| Sidt2 |
G |
A |
9: 45,853,497 (GRCm39) |
S701L |
probably damaging |
Het |
| Slc66a2 |
C |
T |
18: 80,306,658 (GRCm39) |
P76L |
probably damaging |
Het |
| Spag1 |
T |
C |
15: 36,200,430 (GRCm39) |
I345T |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,141,211 (GRCm39) |
S1603T |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,678,831 (GRCm39) |
Y251N |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,776,330 (GRCm39) |
N33S |
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,769,299 (GRCm39) |
L363P |
probably damaging |
Het |
| U2surp |
C |
T |
9: 95,361,357 (GRCm39) |
R591H |
possibly damaging |
Het |
| Usf3 |
A |
G |
16: 44,041,109 (GRCm39) |
N1863S |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,434,806 (GRCm39) |
I633V |
possibly damaging |
Het |
| Zfp979 |
T |
C |
4: 147,698,067 (GRCm39) |
D214G |
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 |
|
|
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 |
|
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'- TCCGAGAAGGACTCCGAGTC -3'
(R):5'- TCGGTTACTCGTGATCGTCC -3'
Sequencing Primer
(F):5'- ACCCTAAGTGCCGCAGC -3'
(R):5'- GTTACTCGTGATCGTCCGTCCTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation