Incidental Mutation 'IGL01732:Snx19'
| ID |
105530 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snx19
|
| Ensembl Gene |
ENSMUSG00000031993 |
| Gene Name |
sorting nexin 19 |
| Synonyms |
3526401K03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
IGL01732
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
30338404-30378029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 30373649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 904
(T904K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164099]
[ENSMUST00000216545]
|
| AlphaFold |
Q6P4T1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164099
AA Change: T904K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: T904K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
46 |
N/A |
INTRINSIC |
|
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
Pfam:PXA
|
96 |
269 |
2.9e-43 |
PFAM |
|
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
504 |
528 |
N/A |
INTRINSIC |
|
PX
|
533 |
664 |
1.83e-24 |
SMART |
|
Pfam:Nexin_C
|
843 |
951 |
1.9e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216545
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216552
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh4a1 |
G |
T |
4: 139,369,471 (GRCm39) |
E341* |
probably null |
Het |
| Alpk3 |
A |
G |
7: 80,707,390 (GRCm39) |
R5G |
unknown |
Het |
| Arhgef10l |
C |
T |
4: 140,307,726 (GRCm39) |
V113M |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,852 (GRCm39) |
I1872K |
probably benign |
Het |
| Cdk17 |
C |
A |
10: 93,053,907 (GRCm39) |
P134T |
probably benign |
Het |
| Cerk |
A |
G |
15: 86,030,517 (GRCm39) |
S35P |
possibly damaging |
Het |
| Cfap126 |
T |
C |
1: 170,954,305 (GRCm39) |
V174A |
possibly damaging |
Het |
| Cfhr1 |
T |
C |
1: 139,478,606 (GRCm39) |
T255A |
probably benign |
Het |
| Clcn1 |
A |
G |
6: 42,287,606 (GRCm39) |
|
probably benign |
Het |
| Copz1 |
A |
G |
15: 103,206,318 (GRCm39) |
E151G |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,494,747 (GRCm39) |
Q101* |
probably null |
Het |
| Eri1 |
T |
C |
8: 35,958,397 (GRCm39) |
E12G |
possibly damaging |
Het |
| Fut9 |
A |
G |
4: 25,619,867 (GRCm39) |
F316L |
possibly damaging |
Het |
| Garin1a |
A |
T |
6: 29,285,979 (GRCm39) |
H146L |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,669,396 (GRCm39) |
I816V |
probably benign |
Het |
| Itln1 |
A |
G |
1: 171,362,348 (GRCm39) |
M11T |
probably benign |
Het |
| Klc2 |
C |
T |
19: 5,159,825 (GRCm39) |
R458Q |
probably damaging |
Het |
| Lrrc8b |
A |
T |
5: 105,633,826 (GRCm39) |
E766V |
probably damaging |
Het |
| Mmadhc |
A |
T |
2: 50,171,197 (GRCm39) |
I205N |
probably damaging |
Het |
| Myo10 |
A |
G |
15: 25,732,149 (GRCm39) |
I342V |
probably benign |
Het |
| Ncapg |
T |
A |
5: 45,851,195 (GRCm39) |
V796D |
probably damaging |
Het |
| Olfm3 |
A |
C |
3: 114,890,649 (GRCm39) |
D134A |
possibly damaging |
Het |
| Or3a1c |
T |
C |
11: 74,046,279 (GRCm39) |
C100R |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,598,446 (GRCm39) |
I248N |
probably damaging |
Het |
| Or56b2 |
T |
C |
7: 104,337,543 (GRCm39) |
M107T |
possibly damaging |
Het |
| Phldb3 |
A |
G |
7: 24,326,751 (GRCm39) |
E593G |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,589,699 (GRCm39) |
D74E |
probably damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,961,407 (GRCm39) |
D283G |
probably benign |
Het |
| Pnpla6 |
C |
A |
8: 3,572,616 (GRCm39) |
T279N |
probably damaging |
Het |
| Prkcq |
G |
A |
2: 11,265,644 (GRCm39) |
|
probably benign |
Het |
| Rbm11 |
G |
A |
16: 75,397,510 (GRCm39) |
A147T |
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,487,366 (GRCm39) |
K666E |
probably damaging |
Het |
| Selenos |
A |
G |
7: 65,730,137 (GRCm39) |
Y45C |
probably damaging |
Het |
| Septin11 |
A |
G |
5: 93,309,085 (GRCm39) |
Y255C |
probably damaging |
Het |
| Serpinb3c |
T |
C |
1: 107,199,702 (GRCm39) |
H273R |
probably benign |
Het |
| Slc35f2 |
A |
G |
9: 53,713,909 (GRCm39) |
D141G |
probably damaging |
Het |
| Sntg2 |
A |
T |
12: 30,362,648 (GRCm39) |
Y33N |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,544,716 (GRCm39) |
Y2244C |
probably damaging |
Het |
| Tescl |
A |
G |
7: 24,032,872 (GRCm39) |
V151A |
probably damaging |
Het |
| Tnrc18 |
C |
T |
5: 142,757,816 (GRCm39) |
V902M |
unknown |
Het |
| Trmt13 |
A |
G |
3: 116,375,113 (GRCm39) |
L465S |
probably damaging |
Het |
| Ube2j2 |
T |
G |
4: 156,041,788 (GRCm39) |
V249G |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,391,273 (GRCm39) |
K4737R |
unknown |
Het |
| Zc3h6 |
T |
C |
2: 128,853,795 (GRCm39) |
I430T |
probably damaging |
Het |
| Zfp750 |
G |
A |
11: 121,403,819 (GRCm39) |
S352L |
probably benign |
Het |
| Zfp819 |
A |
G |
7: 43,265,846 (GRCm39) |
K34E |
probably benign |
Het |
|
| Other mutations in Snx19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Snx19
|
APN |
9 |
30,340,380 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00498:Snx19
|
APN |
9 |
30,340,233 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL00718:Snx19
|
APN |
9 |
30,343,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00902:Snx19
|
APN |
9 |
30,340,028 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01433:Snx19
|
APN |
9 |
30,340,067 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01668:Snx19
|
APN |
9 |
30,339,119 (GRCm39) |
missense |
probably benign |
|
|
IGL01767:Snx19
|
APN |
9 |
30,374,560 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02638:Snx19
|
APN |
9 |
30,343,660 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02718:Snx19
|
APN |
9 |
30,343,556 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02719:Snx19
|
APN |
9 |
30,343,556 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02723:Snx19
|
APN |
9 |
30,343,556 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02724:Snx19
|
APN |
9 |
30,343,556 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02725:Snx19
|
APN |
9 |
30,343,556 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02892:Snx19
|
APN |
9 |
30,339,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03061:Snx19
|
APN |
9 |
30,344,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03402:Snx19
|
APN |
9 |
30,351,430 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0125:Snx19
|
UTSW |
9 |
30,351,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Snx19
|
UTSW |
9 |
30,339,912 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0196:Snx19
|
UTSW |
9 |
30,344,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0423:Snx19
|
UTSW |
9 |
30,347,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0635:Snx19
|
UTSW |
9 |
30,340,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0635:Snx19
|
UTSW |
9 |
30,340,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1068:Snx19
|
UTSW |
9 |
30,340,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1570:Snx19
|
UTSW |
9 |
30,339,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1727:Snx19
|
UTSW |
9 |
30,344,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Snx19
|
UTSW |
9 |
30,343,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Snx19
|
UTSW |
9 |
30,344,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1946:Snx19
|
UTSW |
9 |
30,343,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1989:Snx19
|
UTSW |
9 |
30,339,404 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2029:Snx19
|
UTSW |
9 |
30,340,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2914:Snx19
|
UTSW |
9 |
30,344,828 (GRCm39) |
unclassified |
probably benign |
|
|
R3880:Snx19
|
UTSW |
9 |
30,373,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Snx19
|
UTSW |
9 |
30,339,744 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4415:Snx19
|
UTSW |
9 |
30,348,779 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4438:Snx19
|
UTSW |
9 |
30,339,895 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4484:Snx19
|
UTSW |
9 |
30,339,192 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4585:Snx19
|
UTSW |
9 |
30,351,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4765:Snx19
|
UTSW |
9 |
30,351,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Snx19
|
UTSW |
9 |
30,344,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4922:Snx19
|
UTSW |
9 |
30,348,763 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5096:Snx19
|
UTSW |
9 |
30,340,082 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5464:Snx19
|
UTSW |
9 |
30,339,269 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6469:Snx19
|
UTSW |
9 |
30,339,039 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6886:Snx19
|
UTSW |
9 |
30,340,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6988:Snx19
|
UTSW |
9 |
30,340,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7131:Snx19
|
UTSW |
9 |
30,339,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Snx19
|
UTSW |
9 |
30,351,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7772:Snx19
|
UTSW |
9 |
30,340,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8087:Snx19
|
UTSW |
9 |
30,375,698 (GRCm39) |
missense |
probably benign |
|
|
R8211:Snx19
|
UTSW |
9 |
30,348,761 (GRCm39) |
missense |
probably benign |
|
|
R8283:Snx19
|
UTSW |
9 |
30,374,522 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9000:Snx19
|
UTSW |
9 |
30,375,619 (GRCm39) |
missense |
unknown |
|
|
R9383:Snx19
|
UTSW |
9 |
30,347,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9436:Snx19
|
UTSW |
9 |
30,374,602 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9782:Snx19
|
UTSW |
9 |
30,340,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0019:Snx19
|
UTSW |
9 |
30,348,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Snx19
|
UTSW |
9 |
30,339,017 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2014-01-21 |
Incidental Mutation