Incidental Mutation 'IGL00158:Rnf19a'
ID |
929 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rnf19a
|
Ensembl Gene |
ENSMUSG00000022280 |
Gene Name |
ring finger protein 19A |
Synonyms |
XY body protein, Rnf19, Dorfin, XYbp |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.595)
|
Stock # |
IGL00158
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
36240080-36283293 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 36265948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 50
(S50A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154617
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022890]
[ENSMUST00000228358]
|
AlphaFold |
P50636 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022890
AA Change: S50A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000022890 Gene: ENSMUSG00000022280 AA Change: S50A
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 damaging
Transcript: ENSMUST00000228358
AA Change: S50A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
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 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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
A |
18: 10,647,869 (GRCm39) |
D300V |
possibly damaging |
Het |
Agap1 |
A |
G |
1: 89,591,518 (GRCm39) |
|
probably benign |
Het |
Best3 |
A |
G |
10: 116,840,446 (GRCm39) |
|
probably benign |
Het |
Cfap43 |
T |
G |
19: 47,818,914 (GRCm39) |
I125L |
probably benign |
Het |
Cntn1 |
A |
G |
15: 92,148,758 (GRCm39) |
E335G |
possibly damaging |
Het |
Csmd3 |
A |
T |
15: 48,150,891 (GRCm39) |
S396T |
possibly damaging |
Het |
Cxxc5 |
T |
G |
18: 35,993,745 (GRCm39) |
*318G |
probably null |
Het |
Dpep3 |
T |
C |
8: 106,705,779 (GRCm39) |
T49A |
probably benign |
Het |
Elf1 |
T |
A |
14: 79,817,789 (GRCm39) |
M436K |
possibly damaging |
Het |
Ephx2 |
T |
G |
14: 66,330,286 (GRCm39) |
I310L |
probably benign |
Het |
Fancm |
A |
G |
12: 65,122,510 (GRCm39) |
T11A |
possibly damaging |
Het |
Ganab |
G |
T |
19: 8,879,959 (GRCm39) |
A73S |
probably benign |
Het |
Glp1r |
T |
G |
17: 31,120,891 (GRCm39) |
L14R |
possibly damaging |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Krtap9-1 |
C |
T |
11: 99,764,680 (GRCm39) |
P139S |
unknown |
Het |
L2hgdh |
T |
C |
12: 69,748,208 (GRCm39) |
D306G |
possibly damaging |
Het |
Liat1 |
T |
C |
11: 75,894,192 (GRCm39) |
S190P |
probably benign |
Het |
Lrriq4 |
A |
G |
3: 30,705,104 (GRCm39) |
|
probably null |
Het |
Mbd3 |
T |
G |
10: 80,229,717 (GRCm39) |
|
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mug1 |
T |
C |
6: 121,842,768 (GRCm39) |
S585P |
probably damaging |
Het |
Nat8f4 |
C |
A |
6: 85,877,969 (GRCm39) |
A185S |
probably benign |
Het |
Nlrc5 |
C |
T |
8: 95,228,839 (GRCm39) |
|
probably benign |
Het |
Or8b12 |
T |
A |
9: 37,657,685 (GRCm39) |
I85N |
possibly damaging |
Het |
Or8g23 |
T |
A |
9: 38,971,159 (GRCm39) |
M268L |
probably benign |
Het |
Peg3 |
T |
A |
7: 6,713,273 (GRCm39) |
I650F |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,213,279 (GRCm39) |
N142K |
probably damaging |
Het |
Qser1 |
T |
A |
2: 104,596,401 (GRCm39) |
D1537V |
probably damaging |
Het |
Rbm44 |
T |
A |
1: 91,084,831 (GRCm39) |
D684E |
probably benign |
Het |
Rnf31 |
A |
G |
14: 55,829,776 (GRCm39) |
|
probably null |
Het |
Rspry1 |
A |
G |
8: 95,349,614 (GRCm39) |
M1V |
probably null |
Het |
Rspry1 |
A |
T |
8: 95,349,608 (GRCm39) |
|
probably benign |
Het |
Sap130 |
C |
A |
18: 31,831,819 (GRCm39) |
P769T |
probably benign |
Het |
Slc22a16 |
T |
A |
10: 40,471,278 (GRCm39) |
M483K |
probably damaging |
Het |
Slc27a1 |
T |
C |
8: 72,037,416 (GRCm39) |
|
probably null |
Het |
Slc35a5 |
A |
T |
16: 44,972,971 (GRCm39) |
C65* |
probably null |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Ubqlnl |
T |
C |
7: 103,798,372 (GRCm39) |
E375G |
probably benign |
Het |
Uggt2 |
G |
A |
14: 119,286,688 (GRCm39) |
T692I |
possibly damaging |
Het |
Vmn1r211 |
A |
T |
13: 23,036,272 (GRCm39) |
C132S |
probably benign |
Het |
Vmn2r61 |
A |
T |
7: 41,950,175 (GRCm39) |
N865I |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,506,795 (GRCm39) |
M839K |
|
Het |
Xrn2 |
T |
A |
2: 146,878,670 (GRCm39) |
S455R |
probably benign |
Het |
Zan |
T |
A |
5: 137,452,519 (GRCm39) |
T1521S |
unknown |
Het |
Zfp326 |
A |
G |
5: 106,054,911 (GRCm39) |
M361V |
possibly damaging |
Het |
Zfp472 |
A |
G |
17: 33,196,498 (GRCm39) |
Y191C |
possibly damaging |
Het |
|
Other mutations in Rnf19a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2011-07-12 |