Incidental Mutation 'R8864:Rnf19a'
| ID |
675828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf19a
|
| Ensembl Gene |
ENSMUSG00000022280 |
| Gene Name |
ring finger protein 19A |
| Synonyms |
XY body protein, Rnf19, Dorfin, XYbp |
| MMRRC Submission |
068680-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R8864 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
36240080-36283293 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36265452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 215
(D215G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022890]
[ENSMUST00000228358]
|
| AlphaFold |
P50636 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022890
AA Change: D215G
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022890
Gene: ENSMUSG00000022280
AA Change: D215G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
82 |
N/A |
INTRINSIC |
|
RING
|
132 |
179 |
5.56e-3 |
SMART |
|
IBR
|
199 |
264 |
1.5e-24 |
SMART |
|
IBR
|
283 |
347 |
1.87e-2 |
SMART |
|
transmembrane domain
|
373 |
395 |
N/A |
INTRINSIC |
|
transmembrane domain
|
416 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
682 |
N/A |
INTRINSIC |
|
low complexity region
|
723 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
787 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228358
AA Change: D215G
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.4881 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,023,497 (GRCm39) |
C297* |
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,854,981 (GRCm39) |
|
probably benign |
Het |
| Best2 |
T |
A |
8: 85,735,942 (GRCm39) |
M331L |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,852,026 (GRCm39) |
S1207R |
probably damaging |
Het |
| Cacna2d3 |
G |
T |
14: 29,055,735 (GRCm39) |
N298K |
probably damaging |
Het |
| Cyp2j12 |
T |
C |
4: 96,009,750 (GRCm39) |
Y203C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,981,616 (GRCm39) |
I3046T |
possibly damaging |
Het |
| Eif3b |
T |
C |
5: 140,412,287 (GRCm39) |
V252A |
probably benign |
Het |
| Ergic2 |
A |
G |
6: 148,083,393 (GRCm39) |
V355A |
probably benign |
Het |
| F13a1 |
C |
T |
13: 37,061,753 (GRCm39) |
G670D |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,031,605 (GRCm39) |
D82E |
probably benign |
Het |
| Ggnbp2 |
G |
A |
11: 84,730,902 (GRCm39) |
R376C |
probably damaging |
Het |
| Grn |
T |
C |
11: 102,327,211 (GRCm39) |
F191L |
unknown |
Het |
| Ighv1-16 |
C |
T |
12: 114,629,619 (GRCm39) |
G56D |
probably benign |
Het |
| Jrkl |
T |
C |
9: 13,244,326 (GRCm39) |
D445G |
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,012,739 (GRCm39) |
T93A |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,002,718 (GRCm39) |
A2094T |
|
Het |
| Lrriq3 |
T |
A |
3: 154,893,575 (GRCm39) |
D425E |
probably damaging |
Het |
| Majin |
T |
C |
19: 6,261,650 (GRCm39) |
V55A |
possibly damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,118,492 (GRCm39) |
V1192E |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,150,295 (GRCm39) |
S106G |
unknown |
Het |
| Mtch2 |
C |
T |
2: 90,685,274 (GRCm39) |
R135* |
probably null |
Het |
| Naip1 |
T |
C |
13: 100,562,828 (GRCm39) |
N779S |
possibly damaging |
Het |
| Nfia |
T |
C |
4: 97,951,382 (GRCm39) |
V403A |
possibly damaging |
Het |
| Npas4 |
C |
A |
19: 5,038,556 (GRCm39) |
D121Y |
probably damaging |
Het |
| Rab3gap1 |
C |
T |
1: 127,837,630 (GRCm39) |
R231W |
probably damaging |
Het |
| Rangap1 |
C |
G |
15: 81,610,270 (GRCm39) |
|
probably benign |
Het |
| Rgs5 |
T |
A |
1: 169,517,990 (GRCm39) |
F75I |
probably benign |
Het |
| Rwdd4a |
A |
T |
8: 48,000,876 (GRCm39) |
|
probably benign |
Het |
| Setd5 |
G |
A |
6: 113,088,469 (GRCm39) |
R199H |
probably damaging |
Het |
| Spata31e1 |
T |
C |
13: 49,940,988 (GRCm39) |
N241D |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,599,833 (GRCm39) |
Q2004R |
unknown |
Het |
| Syne1 |
T |
C |
10: 5,370,473 (GRCm39) |
K236E |
probably benign |
Het |
| Tas2r104 |
A |
G |
6: 131,662,632 (GRCm39) |
F26L |
possibly damaging |
Het |
| Tbc1d32 |
T |
A |
10: 55,963,655 (GRCm39) |
E954D |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,918,022 (GRCm39) |
S1914A |
possibly damaging |
Het |
| Tln2 |
G |
T |
9: 67,237,834 (GRCm39) |
Y32* |
probably null |
Het |
| Tnc |
C |
T |
4: 63,911,296 (GRCm39) |
R1425H |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,174,724 (GRCm39) |
C1851R |
unknown |
Het |
| Wapl |
T |
A |
14: 34,414,159 (GRCm39) |
D340E |
probably benign |
Het |
| Zfp74 |
T |
C |
7: 29,634,235 (GRCm39) |
E491G |
probably damaging |
Het |
|
| Other mutations in Rnf19a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Rnf19a
|
APN |
15 |
36,265,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Cycle
|
UTSW |
15 |
36,253,450 (GRCm39) |
intron |
probably benign |
|
|
Tolkien
|
UTSW |
15 |
36,265,452 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Wagner
|
UTSW |
15 |
36,244,342 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0245:Rnf19a
|
UTSW |
15 |
36,253,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0583:Rnf19a
|
UTSW |
15 |
36,253,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Rnf19a
|
UTSW |
15 |
36,244,247 (GRCm39) |
nonsense |
probably null |
|
|
R1528:Rnf19a
|
UTSW |
15 |
36,265,801 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1710:Rnf19a
|
UTSW |
15 |
36,244,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Rnf19a
|
UTSW |
15 |
36,266,071 (GRCm39) |
missense |
probably benign |
|
|
R2005:Rnf19a
|
UTSW |
15 |
36,241,916 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2110:Rnf19a
|
UTSW |
15 |
36,254,665 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3118:Rnf19a
|
UTSW |
15 |
36,242,045 (GRCm39) |
nonsense |
probably null |
|
|
R3776:Rnf19a
|
UTSW |
15 |
36,266,058 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4005:Rnf19a
|
UTSW |
15 |
36,245,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5184:Rnf19a
|
UTSW |
15 |
36,244,342 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5297:Rnf19a
|
UTSW |
15 |
36,247,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Rnf19a
|
UTSW |
15 |
36,242,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5647:Rnf19a
|
UTSW |
15 |
36,266,109 (GRCm39) |
start gained |
probably benign |
|
|
R6451:Rnf19a
|
UTSW |
15 |
36,253,205 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7003:Rnf19a
|
UTSW |
15 |
36,254,650 (GRCm39) |
nonsense |
probably null |
|
|
R7304:Rnf19a
|
UTSW |
15 |
36,254,598 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7893:Rnf19a
|
UTSW |
15 |
36,241,814 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8808:Rnf19a
|
UTSW |
15 |
36,242,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8940:Rnf19a
|
UTSW |
15 |
36,260,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9063:Rnf19a
|
UTSW |
15 |
36,265,615 (GRCm39) |
nonsense |
probably null |
|
|
R9093:Rnf19a
|
UTSW |
15 |
36,253,450 (GRCm39) |
intron |
probably benign |
|
|
R9135:Rnf19a
|
UTSW |
15 |
36,253,310 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9525:Rnf19a
|
UTSW |
15 |
36,247,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTCTTCACAAAATGCAAGTG -3'
(R):5'- GATTGCTTACGACAATACCTAAGG -3'
Sequencing Primer
(F):5'- TGCAAGTGAGAATTTAACAGAGAC -3'
(R):5'- CGACAATACCTAAGGATAGAAATCTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation