Incidental Mutation 'IGL02638:Snx19'
| ID |
301613 |
| 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 # |
IGL02638
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
30338404-30378029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30343660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 607
(F607L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164099]
[ENSMUST00000216545]
|
| AlphaFold |
Q6P4T1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164099
AA Change: F607L
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: F607L
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh3 |
T |
A |
2: 93,838,458 (GRCm39) |
T38S |
probably benign |
Het |
| Btbd8 |
T |
C |
5: 107,656,422 (GRCm39) |
V895A |
possibly damaging |
Het |
| Cdkn2c |
A |
G |
4: 109,522,209 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
C |
3: 144,631,939 (GRCm39) |
C189G |
probably damaging |
Het |
| Clec4f |
T |
A |
6: 83,629,682 (GRCm39) |
N292I |
possibly damaging |
Het |
| Dkk3 |
A |
C |
7: 111,748,234 (GRCm39) |
S123R |
probably benign |
Het |
| Dock1 |
C |
T |
7: 134,748,209 (GRCm39) |
A1557V |
probably benign |
Het |
| E130308A19Rik |
C |
T |
4: 59,719,676 (GRCm39) |
Q403* |
probably null |
Het |
| F5 |
G |
A |
1: 164,012,177 (GRCm39) |
|
probably null |
Het |
| Fam98c |
T |
A |
7: 28,852,187 (GRCm39) |
D326V |
probably damaging |
Het |
| Firrm |
G |
A |
1: 163,786,868 (GRCm39) |
Q734* |
probably null |
Het |
| Frem2 |
A |
C |
3: 53,458,767 (GRCm39) |
V2034G |
possibly damaging |
Het |
| Galnt2 |
G |
A |
8: 124,958,318 (GRCm39) |
G18D |
probably damaging |
Het |
| Grhl3 |
T |
C |
4: 135,284,176 (GRCm39) |
E222G |
probably benign |
Het |
| Hif3a |
A |
C |
7: 16,778,293 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
C |
T |
9: 85,601,946 (GRCm39) |
G755D |
probably damaging |
Het |
| Laptm4b |
A |
G |
15: 34,277,630 (GRCm39) |
N187S |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,232,380 (GRCm39) |
T776A |
probably damaging |
Het |
| Matcap2 |
A |
T |
9: 22,341,775 (GRCm39) |
K149* |
probably null |
Het |
| Mfhas1 |
T |
A |
8: 36,058,104 (GRCm39) |
W860R |
possibly damaging |
Het |
| Mon2 |
A |
C |
10: 122,859,844 (GRCm39) |
W811G |
probably damaging |
Het |
| Nup42 |
A |
G |
5: 24,380,505 (GRCm39) |
T167A |
probably benign |
Het |
| Or10j2 |
A |
G |
1: 173,097,898 (GRCm39) |
D52G |
probably benign |
Het |
| Or2z2 |
C |
A |
11: 58,345,873 (GRCm39) |
A301S |
probably damaging |
Het |
| Or4k45 |
T |
C |
2: 111,395,249 (GRCm39) |
D180G |
probably damaging |
Het |
| Or5w10 |
T |
C |
2: 87,375,093 (GRCm39) |
Y265C |
probably damaging |
Het |
| Or8j3c |
T |
C |
2: 86,254,021 (GRCm39) |
|
probably null |
Het |
| Pgap2 |
T |
C |
7: 101,886,629 (GRCm39) |
L217P |
probably damaging |
Het |
| Pik3c2b |
T |
G |
1: 133,005,056 (GRCm39) |
|
probably benign |
Het |
| Ppfia3 |
T |
A |
7: 45,006,092 (GRCm39) |
D149V |
probably damaging |
Het |
| Prkcb |
C |
T |
7: 122,200,063 (GRCm39) |
|
probably benign |
Het |
| Prl |
A |
G |
13: 27,245,562 (GRCm39) |
D97G |
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,149,698 (GRCm39) |
|
noncoding transcript |
Het |
| Rnf112 |
T |
C |
11: 61,340,231 (GRCm39) |
|
probably benign |
Het |
| Slc17a8 |
C |
A |
10: 89,412,465 (GRCm39) |
G323* |
probably null |
Het |
| Suco |
A |
G |
1: 161,655,256 (GRCm39) |
S1079P |
probably damaging |
Het |
| Taf5 |
T |
C |
19: 47,056,649 (GRCm39) |
L149P |
probably benign |
Het |
| Taf6l |
T |
C |
19: 8,752,630 (GRCm39) |
M379V |
probably benign |
Het |
| Tcf25 |
T |
C |
8: 124,126,031 (GRCm39) |
F558L |
probably damaging |
Het |
| Tlcd1 |
T |
C |
11: 78,070,444 (GRCm39) |
V102A |
probably benign |
Het |
| Tmc5 |
G |
T |
7: 118,226,456 (GRCm39) |
A274S |
probably benign |
Het |
| Toporsl |
C |
T |
4: 52,611,624 (GRCm39) |
H506Y |
probably benign |
Het |
| Ubtd1 |
T |
C |
19: 42,022,109 (GRCm39) |
L127P |
possibly damaging |
Het |
| Usp24 |
A |
C |
4: 106,295,967 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
C |
A |
4: 106,295,969 (GRCm39) |
|
probably benign |
Het |
| Usp43 |
T |
G |
11: 67,746,581 (GRCm39) |
D1042A |
probably benign |
Het |
| Whrn |
T |
C |
4: 63,337,709 (GRCm39) |
T48A |
possibly damaging |
Het |
| Wnt2b |
A |
G |
3: 104,862,032 (GRCm39) |
I102T |
probably benign |
Het |
| Zfp763 |
T |
C |
17: 33,238,908 (GRCm39) |
D79G |
probably benign |
Het |
| Zmat4 |
A |
G |
8: 24,287,389 (GRCm39) |
Y45C |
probably 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 |
|
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 |
2015-04-16 |
Incidental Mutation