Incidental Mutation 'R3776:Rnf19a'
| ID |
273610 |
| 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 |
040874-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R3776 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
36240080-36283293 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36266058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 13
(N13I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022890]
[ENSMUST00000228358]
|
| AlphaFold |
P50636 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022890
AA Change: N13I
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000022890
Gene: ENSMUSG00000022280
AA Change: N13I
| 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 |
noncoding transcript
Transcript: ENSMUST00000227735
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228358
AA Change: N13I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer1 |
C |
T |
17: 57,262,111 (GRCm39) |
V264M |
probably damaging |
Het |
| Adgrg1 |
C |
T |
8: 95,736,283 (GRCm39) |
S479F |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,735,911 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
CTTTTT |
CTTTTTT |
10: 98,815,731 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
A |
12: 100,913,438 (GRCm39) |
T529M |
probably damaging |
Het |
| Cdc27 |
T |
G |
11: 104,406,263 (GRCm39) |
E617D |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,880,962 (GRCm39) |
V367A |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,928,900 (GRCm39) |
Q1445* |
probably null |
Het |
| Crispld2 |
T |
C |
8: 120,756,005 (GRCm39) |
S325P |
probably damaging |
Het |
| Dll1 |
T |
C |
17: 15,588,786 (GRCm39) |
S630G |
probably benign |
Het |
| Ednra |
A |
G |
8: 78,401,724 (GRCm39) |
S189P |
probably damaging |
Het |
| Eif6 |
T |
A |
2: 155,668,296 (GRCm39) |
T20S |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,915,618 (GRCm39) |
V555A |
possibly damaging |
Het |
| Gdpd5 |
G |
A |
7: 99,103,779 (GRCm39) |
R422Q |
probably benign |
Het |
| Glt1d1 |
T |
A |
5: 127,771,375 (GRCm39) |
F289I |
probably damaging |
Het |
| Gm5565 |
T |
A |
5: 146,095,419 (GRCm39) |
E192V |
probably benign |
Het |
| Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,882,182 (GRCm39) |
R204* |
probably null |
Het |
| Hhex |
A |
T |
19: 37,425,718 (GRCm39) |
Q149L |
probably damaging |
Het |
| Kat2b |
A |
G |
17: 53,874,609 (GRCm39) |
|
probably null |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Klra2 |
A |
T |
6: 131,219,926 (GRCm39) |
L85H |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
| Mttp |
T |
C |
3: 137,820,024 (GRCm39) |
|
probably null |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Nin |
G |
T |
12: 70,085,456 (GRCm39) |
Q1592K |
possibly damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,199,467 (GRCm39) |
E26G |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or4a15 |
A |
T |
2: 89,193,108 (GRCm39) |
S222T |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,214,992 (GRCm39) |
D1007G |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,612,543 (GRCm39) |
L98P |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,378,371 (GRCm39) |
|
probably null |
Het |
| Plod1 |
A |
G |
4: 148,015,734 (GRCm39) |
V105A |
possibly damaging |
Het |
| Polg2 |
G |
T |
11: 106,670,110 (GRCm39) |
F53L |
probably benign |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rab3gap2 |
T |
C |
1: 185,009,402 (GRCm39) |
L1086P |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,955,966 (GRCm39) |
F1143L |
possibly damaging |
Het |
| Ubxn11 |
C |
T |
4: 133,835,605 (GRCm39) |
P4S |
probably damaging |
Het |
| Zg16 |
T |
A |
7: 126,649,704 (GRCm39) |
I86F |
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 |
|
|
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 |
|
R8864:Rnf19a
|
UTSW |
15 |
36,265,452 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
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'- GGAGTTCTTATCAGCACACATTTC -3'
(R):5'- TTCACAGAGAACCTGCAAGAG -3'
Sequencing Primer
(F):5'- TTCCTCCGAAAGAGAGAGCCTATTG -3'
(R):5'- CAGAGAACCTGCAAGAGTATAAAAAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation