Incidental Mutation 'IGL02892:Snx19'
| ID |
363243 |
| 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: 0.115)
|
| Stock # |
IGL02892
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
30338404-30378029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30339660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 266
(V266E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164099]
|
| AlphaFold |
Q6P4T1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164099
AA Change: V266E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: V266E
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd4 |
A |
T |
12: 84,651,771 (GRCm39) |
L493* |
probably null |
Het |
| Adam32 |
T |
A |
8: 25,368,727 (GRCm39) |
|
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,771 (GRCm39) |
D744G |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,912,268 (GRCm39) |
V530A |
possibly damaging |
Het |
| Baz2b |
A |
T |
2: 59,731,080 (GRCm39) |
N2095K |
probably damaging |
Het |
| Btnl2 |
A |
T |
17: 34,581,642 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Cd96 |
T |
C |
16: 45,870,160 (GRCm39) |
|
probably null |
Het |
| Cep350 |
G |
A |
1: 155,744,552 (GRCm39) |
T2089I |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,703,543 (GRCm39) |
|
probably benign |
Het |
| Cib4 |
C |
T |
5: 30,702,051 (GRCm39) |
|
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,336,970 (GRCm39) |
T280A |
probably benign |
Het |
| Coq5 |
T |
A |
5: 115,432,876 (GRCm39) |
|
probably benign |
Het |
| Cyth3 |
A |
G |
5: 143,693,192 (GRCm39) |
I339V |
possibly damaging |
Het |
| Dcaf7 |
T |
C |
11: 105,937,518 (GRCm39) |
V47A |
possibly damaging |
Het |
| Dcdc2c |
A |
G |
12: 28,585,544 (GRCm39) |
I151T |
probably benign |
Het |
| Defb7 |
T |
A |
8: 19,547,678 (GRCm39) |
F61Y |
probably benign |
Het |
| Diaph3 |
T |
A |
14: 87,104,066 (GRCm39) |
K773* |
probably null |
Het |
| Dmxl1 |
A |
G |
18: 49,992,187 (GRCm39) |
N311S |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,158,458 (GRCm39) |
R347H |
possibly damaging |
Het |
| Egflam |
C |
T |
15: 7,319,277 (GRCm39) |
V234I |
probably benign |
Het |
| Emilin3 |
C |
T |
2: 160,751,069 (GRCm39) |
V180M |
possibly damaging |
Het |
| Fam76b |
A |
T |
9: 13,740,117 (GRCm39) |
E50V |
probably null |
Het |
| Fat3 |
A |
T |
9: 16,288,858 (GRCm39) |
Y222N |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 111,230,981 (GRCm39) |
N468S |
probably damaging |
Het |
| Gucy1a2 |
G |
T |
9: 3,634,471 (GRCm39) |
G172C |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,551,725 (GRCm39) |
|
probably null |
Het |
| Hydin |
G |
A |
8: 111,325,591 (GRCm39) |
V4667M |
possibly damaging |
Het |
| Idh2 |
T |
C |
7: 79,745,418 (GRCm39) |
S408G |
probably benign |
Het |
| Kcng4 |
T |
C |
8: 120,359,821 (GRCm39) |
Q185R |
probably benign |
Het |
| Lamp3 |
A |
G |
16: 19,494,802 (GRCm39) |
V301A |
probably damaging |
Het |
| Lrrc23 |
T |
C |
6: 124,751,399 (GRCm39) |
N220S |
probably benign |
Het |
| Lrrc41 |
T |
A |
4: 115,946,032 (GRCm39) |
M249K |
possibly damaging |
Het |
| Ltbp4 |
T |
A |
7: 27,010,074 (GRCm39) |
D1162V |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,082,037 (GRCm39) |
I229V |
probably benign |
Het |
| Or1o11 |
T |
C |
17: 37,756,925 (GRCm39) |
L160P |
probably damaging |
Het |
| Pgap6 |
A |
G |
17: 26,338,094 (GRCm39) |
Y466C |
probably damaging |
Het |
| Plekhg2 |
T |
A |
7: 28,062,342 (GRCm39) |
D525V |
probably damaging |
Het |
| Plin4 |
T |
C |
17: 56,412,108 (GRCm39) |
K641R |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,045,425 (GRCm39) |
|
probably null |
Het |
| Polr1a |
T |
C |
6: 71,908,680 (GRCm39) |
S502P |
possibly damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,220 (GRCm39) |
V450A |
probably benign |
Het |
| Prss42 |
G |
A |
9: 110,628,458 (GRCm39) |
V201M |
probably damaging |
Het |
| Pus7 |
A |
T |
5: 23,959,554 (GRCm39) |
N322K |
probably damaging |
Het |
| Riok1 |
G |
T |
13: 38,224,041 (GRCm39) |
|
probably benign |
Het |
| Rmdn3 |
T |
A |
2: 118,984,561 (GRCm39) |
T64S |
probably benign |
Het |
| Rmnd5a |
T |
A |
6: 71,391,798 (GRCm39) |
M131L |
probably benign |
Het |
| Rtbdn |
C |
T |
8: 85,681,718 (GRCm39) |
R170C |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,226,030 (GRCm39) |
|
probably null |
Het |
| Slc2a6 |
A |
G |
2: 26,914,305 (GRCm39) |
Y271H |
probably benign |
Het |
| Slc5a5 |
T |
G |
8: 71,345,161 (GRCm39) |
T49P |
probably damaging |
Het |
| Slc7a10 |
T |
C |
7: 34,894,593 (GRCm39) |
V84A |
possibly damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,623,204 (GRCm39) |
T148A |
possibly damaging |
Het |
| Smg1 |
T |
A |
7: 117,767,178 (GRCm39) |
|
probably benign |
Het |
| Synm |
T |
A |
7: 67,384,804 (GRCm39) |
I511F |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 107,468,642 (GRCm39) |
|
probably benign |
Het |
| Tie1 |
T |
A |
4: 118,343,479 (GRCm39) |
D128V |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,080,120 (GRCm39) |
L423P |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,555,679 (GRCm39) |
L145P |
probably damaging |
Het |
| Trp53i13 |
A |
T |
11: 77,399,121 (GRCm39) |
D376E |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,144,642 (GRCm39) |
I1484F |
probably damaging |
Het |
| Unc13a |
C |
T |
8: 72,102,554 (GRCm39) |
V943M |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,611,822 (GRCm39) |
K301R |
probably damaging |
Het |
| Vmn1r62 |
G |
T |
7: 5,679,202 (GRCm39) |
M294I |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,153,652 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,341,140 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,096,438 (GRCm39) |
W748R |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation