Incidental Mutation 'IGL02724:Snx19'
| ID |
305104 |
| 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 # |
IGL02724
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
30338404-30378029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30343556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 572
(N572S)
|
| 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: N572S
PolyPhen 2
Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: N572S
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
T |
G |
2: 93,676,121 (GRCm39) |
K85Q |
probably damaging |
Het |
| Acmsd |
A |
T |
1: 127,676,822 (GRCm39) |
T116S |
possibly damaging |
Het |
| Agrn |
T |
A |
4: 156,257,264 (GRCm39) |
K1189* |
probably null |
Het |
| Alk |
T |
C |
17: 72,292,455 (GRCm39) |
R508G |
probably benign |
Het |
| Arhgap23 |
T |
A |
11: 97,382,005 (GRCm39) |
Y1123N |
probably damaging |
Het |
| Arl6ip5 |
G |
T |
6: 97,209,365 (GRCm39) |
M133I |
probably benign |
Het |
| Axin2 |
G |
A |
11: 108,833,772 (GRCm39) |
G573D |
possibly damaging |
Het |
| B4galt2 |
A |
G |
4: 117,734,075 (GRCm39) |
|
probably null |
Het |
| Baz2b |
G |
T |
2: 59,807,718 (GRCm39) |
D180E |
possibly damaging |
Het |
| Btnl6 |
G |
T |
17: 34,727,149 (GRCm39) |
Y460* |
probably null |
Het |
| Cct7 |
A |
T |
6: 85,436,131 (GRCm39) |
D14V |
probably damaging |
Het |
| Cd55 |
T |
A |
1: 130,377,149 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdh2 |
C |
T |
18: 16,762,537 (GRCm39) |
R526Q |
probably benign |
Het |
| Chi3l1 |
A |
C |
1: 134,116,981 (GRCm39) |
E315A |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,163 (GRCm39) |
S642P |
probably benign |
Het |
| Cpm |
C |
A |
10: 117,465,756 (GRCm39) |
T43K |
probably damaging |
Het |
| Cracd |
T |
C |
5: 77,006,306 (GRCm39) |
V889A |
unknown |
Het |
| Cyp8b1 |
A |
T |
9: 121,744,453 (GRCm39) |
V293D |
probably benign |
Het |
| Dock1 |
T |
G |
7: 134,765,082 (GRCm39) |
D1691E |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,700,659 (GRCm39) |
D2120G |
probably benign |
Het |
| Gal3st4 |
T |
C |
5: 138,263,679 (GRCm39) |
K440R |
probably benign |
Het |
| Gfpt1 |
A |
T |
6: 87,033,164 (GRCm39) |
K130* |
probably null |
Het |
| Gpr26 |
T |
C |
7: 131,576,121 (GRCm39) |
|
probably null |
Het |
| Htr2a |
A |
T |
14: 74,882,502 (GRCm39) |
I163F |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,806,682 (GRCm39) |
E610G |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,716,879 (GRCm39) |
D673G |
probably benign |
Het |
| Ipo8 |
G |
T |
6: 148,692,979 (GRCm39) |
C636* |
probably null |
Het |
| Kirrel1 |
C |
A |
3: 86,997,780 (GRCm39) |
E248* |
probably null |
Het |
| Lrp6 |
A |
G |
6: 134,461,228 (GRCm39) |
V743A |
probably damaging |
Het |
| Lrrc45 |
C |
A |
11: 120,609,144 (GRCm39) |
S374R |
probably benign |
Het |
| Map3k9 |
G |
A |
12: 81,771,516 (GRCm39) |
P714S |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,039,121 (GRCm39) |
L264Q |
possibly damaging |
Het |
| Mroh4 |
C |
A |
15: 74,478,000 (GRCm39) |
W902L |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,085,367 (GRCm39) |
D535E |
probably damaging |
Het |
| Nfatc3 |
T |
C |
8: 106,834,817 (GRCm39) |
V713A |
probably benign |
Het |
| Npc1l1 |
C |
T |
11: 6,164,684 (GRCm39) |
V1122M |
possibly damaging |
Het |
| Nsg2 |
A |
G |
11: 32,005,011 (GRCm39) |
|
probably null |
Het |
| Or4c15 |
C |
A |
2: 88,759,792 (GRCm39) |
R289L |
probably damaging |
Het |
| Or8s10 |
T |
A |
15: 98,335,660 (GRCm39) |
F103L |
probably benign |
Het |
| Pax9 |
A |
T |
12: 56,756,604 (GRCm39) |
H314L |
possibly damaging |
Het |
| Phf21a |
A |
T |
2: 92,190,592 (GRCm39) |
I584F |
probably damaging |
Het |
| Pip5k1c |
A |
G |
10: 81,149,296 (GRCm39) |
E536G |
probably benign |
Het |
| Plekhm3 |
A |
G |
1: 64,834,276 (GRCm39) |
S736P |
probably damaging |
Het |
| Ppp3cb |
T |
A |
14: 20,573,645 (GRCm39) |
|
probably null |
Het |
| Prdm9 |
A |
T |
17: 15,783,522 (GRCm39) |
S14R |
probably benign |
Het |
| Proc |
A |
G |
18: 32,267,925 (GRCm39) |
I71T |
probably damaging |
Het |
| Prom2 |
T |
A |
2: 127,380,577 (GRCm39) |
|
probably benign |
Het |
| Psd |
T |
C |
19: 46,307,984 (GRCm39) |
T675A |
probably benign |
Het |
| Rnf215 |
G |
T |
11: 4,090,305 (GRCm39) |
R341L |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,732,921 (GRCm39) |
|
probably null |
Het |
| Sh2d7 |
C |
A |
9: 54,448,105 (GRCm39) |
T42N |
probably benign |
Het |
| Sh3glb2 |
C |
T |
2: 30,236,368 (GRCm39) |
G279D |
probably benign |
Het |
| Slc25a46 |
A |
G |
18: 31,738,868 (GRCm39) |
|
probably benign |
Het |
| Snx17 |
T |
C |
5: 31,354,390 (GRCm39) |
S167P |
probably damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,067,104 (GRCm39) |
R1937C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Srsf11 |
T |
C |
3: 157,722,068 (GRCm39) |
|
probably benign |
Het |
| Taar7b |
A |
T |
10: 23,876,581 (GRCm39) |
M249L |
probably benign |
Het |
| Tle6 |
G |
A |
10: 81,435,898 (GRCm39) |
Q6* |
probably null |
Het |
| Twnk |
G |
T |
19: 44,996,557 (GRCm39) |
R330L |
probably damaging |
Het |
| Unc13a |
C |
A |
8: 72,108,949 (GRCm39) |
|
probably benign |
Het |
| Vmn2r107 |
A |
G |
17: 20,577,006 (GRCm39) |
T335A |
possibly damaging |
Het |
| Wdtc1 |
A |
T |
4: 133,024,789 (GRCm39) |
S469R |
possibly damaging |
Het |
| Ypel1 |
A |
G |
16: 16,921,466 (GRCm39) |
Y73H |
probably benign |
Het |
| Zfp382 |
A |
T |
7: 29,833,162 (GRCm39) |
Y271F |
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 |
|
|
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 |
|
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