Incidental Mutation 'R8211:Snx19'
| ID |
636170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx19
|
| Ensembl Gene |
ENSMUSG00000031993 |
| Gene Name |
sorting nexin 19 |
| Synonyms |
3526401K03Rik |
| MMRRC Submission |
067634-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R8211 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
30338404-30378029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30348761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 798
(E798G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164099]
|
| AlphaFold |
Q6P4T1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164099
AA Change: E798G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: E798G
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330017A19Rik |
A |
G |
17: 47,201,309 (GRCm39) |
|
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,172,371 (GRCm39) |
S445P |
probably damaging |
Het |
| Afp |
T |
C |
5: 90,649,345 (GRCm39) |
I304T |
possibly damaging |
Het |
| Alk |
G |
A |
17: 72,176,702 (GRCm39) |
A1534V |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,703,228 (GRCm39) |
P287L |
unknown |
Het |
| Appl1 |
T |
C |
14: 26,667,555 (GRCm39) |
I367V |
probably benign |
Het |
| Arpin |
T |
A |
7: 79,584,992 (GRCm39) |
M1L |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| B430203G13Rik |
A |
T |
12: 17,974,540 (GRCm39) |
H82L |
noncoding transcript |
Het |
| Bcl11a |
T |
A |
11: 24,028,394 (GRCm39) |
S2T |
probably damaging |
Het |
| Cfap299 |
A |
G |
5: 98,477,294 (GRCm39) |
I28V |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,213,220 (GRCm39) |
M1605L |
unknown |
Het |
| Chga |
C |
A |
12: 102,527,678 (GRCm39) |
Q111K |
possibly damaging |
Het |
| Drc7 |
A |
G |
8: 95,782,707 (GRCm39) |
E24G |
unknown |
Het |
| Dst |
T |
C |
1: 34,251,532 (GRCm39) |
L2195P |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,392,402 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,203,035 (GRCm39) |
L13P |
possibly damaging |
Het |
| Grhl1 |
T |
C |
12: 24,636,151 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,199,515 (GRCm39) |
I326T |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,226,110 (GRCm39) |
D195N |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,042,024 (GRCm39) |
C37S |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,006,408 (GRCm39) |
L1239P |
probably damaging |
Het |
| Mrps5 |
T |
A |
2: 127,445,644 (GRCm39) |
H390Q |
probably benign |
Het |
| Nphp3 |
T |
A |
9: 103,909,096 (GRCm39) |
C769S |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 59,006,620 (GRCm39) |
S1181P |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pabpc6 |
G |
T |
17: 9,888,386 (GRCm39) |
A55E |
probably damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,131,912 (GRCm39) |
E327V |
possibly damaging |
Het |
| Pds5b |
A |
G |
5: 150,652,407 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pi4ka |
A |
C |
16: 17,100,769 (GRCm39) |
I1807S |
|
Het |
| Pick1 |
T |
A |
15: 79,132,930 (GRCm39) |
I330N |
probably damaging |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rubcn |
A |
C |
16: 32,656,913 (GRCm39) |
C502W |
possibly damaging |
Het |
| Slc26a10 |
G |
A |
10: 127,009,834 (GRCm39) |
R571C |
probably benign |
Het |
| Slc44a2 |
A |
T |
9: 21,259,434 (GRCm39) |
N587Y |
probably damaging |
Het |
| Slfn2 |
T |
G |
11: 82,960,585 (GRCm39) |
V188G |
possibly damaging |
Het |
| Smok2b |
T |
C |
17: 13,454,680 (GRCm39) |
V280A |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,469,543 (GRCm39) |
|
probably null |
Het |
| Ugt2b37 |
T |
C |
5: 87,390,235 (GRCm39) |
I404V |
probably benign |
Het |
| Vmn1r160 |
T |
C |
7: 22,570,751 (GRCm39) |
F35L |
possibly damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,286 (GRCm39) |
Y235* |
probably null |
Het |
| Vmn2r53 |
T |
C |
7: 12,315,843 (GRCm39) |
I659V |
probably benign |
Het |
| Vmn2r91 |
A |
G |
17: 18,326,762 (GRCm39) |
D349G |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,163 (GRCm39) |
S2299T |
probably benign |
Het |
| Zfp938 |
T |
C |
10: 82,062,419 (GRCm39) |
N67S |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGGGTTAGTGCACTCTG -3'
(R):5'- ATGTCTCTGCTGAGCACAAGAG -3'
Sequencing Primer
(F):5'- GGAAACCCAGATGCTACCTTTATTC -3'
(R):5'- GAGAAGTAAGCACTGCACAGTCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation