Incidental Mutation 'IGL00902:Snx19'
| ID |
28124 |
| 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 # |
IGL00902
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
30338404-30378029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30340028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 389
(I389F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164099]
|
| AlphaFold |
Q6P4T1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164099
AA Change: I389F
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: I389F
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
T |
G |
9: 90,070,847 (GRCm39) |
|
probably null |
Het |
| Akap11 |
A |
G |
14: 78,733,278 (GRCm39) |
S1876P |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,095,494 (GRCm39) |
G1001D |
probably damaging |
Het |
| Capn10 |
A |
G |
1: 92,870,281 (GRCm39) |
I256V |
probably benign |
Het |
| Catsperg2 |
T |
A |
7: 29,400,568 (GRCm39) |
H262L |
possibly damaging |
Het |
| Col22a1 |
C |
A |
15: 71,836,508 (GRCm39) |
G509V |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,607,124 (GRCm39) |
F523S |
probably damaging |
Het |
| Dbnl |
G |
T |
11: 5,748,105 (GRCm39) |
A313S |
probably benign |
Het |
| Ddo |
T |
C |
10: 40,523,550 (GRCm39) |
V180A |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,819,844 (GRCm39) |
M200V |
possibly damaging |
Het |
| Fabp6 |
G |
A |
11: 43,489,543 (GRCm39) |
R33C |
probably damaging |
Het |
| Gm9104 |
T |
C |
17: 45,776,940 (GRCm39) |
|
probably benign |
Het |
| Gspt1 |
C |
T |
16: 11,050,443 (GRCm39) |
V303I |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,919,245 (GRCm39) |
C1469Y |
probably damaging |
Het |
| Igflr1 |
T |
C |
7: 30,266,700 (GRCm39) |
S183P |
possibly damaging |
Het |
| Itga6 |
T |
C |
2: 71,679,738 (GRCm39) |
V1001A |
probably benign |
Het |
| Itih1 |
G |
A |
14: 30,654,439 (GRCm39) |
|
probably benign |
Het |
| Itprid2 |
G |
A |
2: 79,490,822 (GRCm39) |
R980Q |
probably damaging |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,650,774 (GRCm39) |
N1220S |
probably damaging |
Het |
| Marchf6 |
A |
G |
15: 31,485,124 (GRCm39) |
Y434H |
probably damaging |
Het |
| Mbd1 |
A |
G |
18: 74,408,310 (GRCm39) |
Y211C |
possibly damaging |
Het |
| Mpeg1 |
C |
A |
19: 12,439,133 (GRCm39) |
A197D |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,944,704 (GRCm39) |
L435Q |
probably damaging |
Het |
| Mss51 |
A |
C |
14: 20,536,235 (GRCm39) |
M160R |
probably damaging |
Het |
| Ndufs7 |
T |
G |
10: 80,091,839 (GRCm39) |
Y190* |
probably null |
Het |
| Or6c38 |
T |
A |
10: 128,929,265 (GRCm39) |
I193L |
probably benign |
Het |
| Or9g4b |
T |
C |
2: 85,616,461 (GRCm39) |
M202T |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,684,289 (GRCm39) |
E252G |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,544,631 (GRCm39) |
V151A |
probably benign |
Het |
| Sgo2a |
A |
G |
1: 58,055,258 (GRCm39) |
T481A |
probably benign |
Het |
| Slc5a8 |
A |
G |
10: 88,755,323 (GRCm39) |
T477A |
probably benign |
Het |
| Smg5 |
G |
A |
3: 88,260,392 (GRCm39) |
V661I |
probably benign |
Het |
| Spem1 |
A |
T |
11: 69,712,643 (GRCm39) |
I64N |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,755,404 (GRCm39) |
M262K |
probably damaging |
Het |
| Uox |
A |
G |
3: 146,316,161 (GRCm39) |
D32G |
possibly damaging |
Het |
| Usp42 |
A |
T |
5: 143,705,629 (GRCm39) |
|
probably benign |
Het |
| Usp43 |
G |
A |
11: 67,782,245 (GRCm39) |
P391L |
probably benign |
Het |
| Vmn2r56 |
T |
C |
7: 12,449,426 (GRCm39) |
S271G |
probably benign |
Het |
| Wdr64 |
T |
A |
1: 175,556,391 (GRCm39) |
C213S |
probably damaging |
Het |
| Zfp26 |
A |
T |
9: 20,350,844 (GRCm39) |
S194T |
possibly damaging |
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 |
|
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 |
2013-04-17 |
Incidental Mutation