Incidental Mutation 'IGL00339:Snx19'
| ID |
6184 |
| 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 # |
IGL00339
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
30338404-30378029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 30340380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 506
(V506G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164099]
|
| AlphaFold |
Q6P4T1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164099
AA Change: V506G
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: V506G
| 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 |
noncoding transcript
Transcript: ENSMUST00000216552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217174
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,213,893 (GRCm39) |
M707V |
probably benign |
Het |
| Amz2 |
A |
T |
11: 109,324,847 (GRCm39) |
I244F |
probably damaging |
Het |
| Atp4a |
T |
C |
7: 30,412,629 (GRCm39) |
C112R |
possibly damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,816 (GRCm39) |
T235A |
probably benign |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brd8 |
C |
A |
18: 34,742,936 (GRCm39) |
G310* |
probably null |
Het |
| Capn11 |
A |
T |
17: 45,954,693 (GRCm39) |
I148N |
probably damaging |
Het |
| Caskin2 |
A |
G |
11: 115,694,425 (GRCm39) |
L392P |
probably benign |
Het |
| Cep72 |
C |
T |
13: 74,210,387 (GRCm39) |
|
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,467 (GRCm39) |
Y298C |
possibly damaging |
Het |
| Cyp21a1 |
C |
T |
17: 35,023,108 (GRCm39) |
|
probably null |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,449 (GRCm39) |
D381G |
probably damaging |
Het |
| Fnip2 |
T |
G |
3: 79,422,462 (GRCm39) |
H106P |
probably benign |
Het |
| Fosl1 |
T |
A |
19: 5,500,330 (GRCm39) |
I83K |
probably damaging |
Het |
| Foxk2 |
C |
T |
11: 121,190,560 (GRCm39) |
T567M |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,599,525 (GRCm39) |
N208S |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Heatr5a |
A |
T |
12: 51,935,684 (GRCm39) |
I1634N |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,266,506 (GRCm39) |
T1889M |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,909,845 (GRCm39) |
P457S |
probably damaging |
Het |
| Kcnk18 |
G |
T |
19: 59,223,502 (GRCm39) |
A216S |
probably benign |
Het |
| Klhl42 |
A |
G |
6: 147,003,231 (GRCm39) |
Y335C |
probably damaging |
Het |
| Lrguk |
C |
T |
6: 34,020,364 (GRCm39) |
P36L |
probably damaging |
Het |
| Mmp1b |
T |
A |
9: 7,368,304 (GRCm39) |
R443S |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,963,649 (GRCm39) |
S501P |
probably benign |
Het |
| Neurl4 |
C |
T |
11: 69,795,413 (GRCm39) |
R422W |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 22,956,469 (GRCm39) |
S311G |
probably benign |
Het |
| Oaf |
T |
C |
9: 43,135,313 (GRCm39) |
D155G |
probably damaging |
Het |
| Oas1g |
T |
A |
5: 121,024,109 (GRCm39) |
K67* |
probably null |
Het |
| Or1l4 |
T |
C |
2: 37,091,609 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2a20 |
T |
G |
6: 43,194,782 (GRCm39) |
L312V |
probably benign |
Het |
| Rims2 |
C |
A |
15: 39,323,011 (GRCm39) |
T735K |
probably benign |
Het |
| Sema4f |
T |
C |
6: 82,914,155 (GRCm39) |
T68A |
probably benign |
Het |
| Sp140 |
T |
A |
1: 85,569,543 (GRCm39) |
C107* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,460,680 (GRCm39) |
|
probably benign |
Het |
| Syce1l |
T |
G |
8: 114,376,134 (GRCm39) |
L28R |
probably damaging |
Het |
| Tgm3 |
G |
A |
2: 129,880,333 (GRCm39) |
V380M |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,143,628 (GRCm39) |
V104D |
possibly damaging |
Het |
|
| Other mutations in Snx19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL01732:Snx19
|
APN |
9 |
30,373,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-04-20 |
Incidental Mutation