Incidental Mutation 'R0423:Snx19'
| ID |
38590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx19
|
| Ensembl Gene |
ENSMUSG00000031993 |
| Gene Name |
sorting nexin 19 |
| Synonyms |
3526401K03Rik |
| MMRRC Submission |
038625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R0423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
30338404-30378029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 30347133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 692
(T692N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164099]
[ENSMUST00000216545]
|
| AlphaFold |
Q6P4T1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164099
AA Change: T692N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: T692N
| 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
|
| Meta Mutation Damage Score |
0.3913 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 91.9%
|
| Validation Efficiency |
99% (84/85) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,261,825 (GRCm39) |
|
noncoding transcript |
Het |
| A630001G21Rik |
A |
G |
1: 85,654,187 (GRCm39) |
I50T |
probably benign |
Het |
| Abhd12 |
T |
C |
2: 150,680,312 (GRCm39) |
T264A |
possibly damaging |
Het |
| Acsm3 |
T |
C |
7: 119,376,382 (GRCm39) |
Y370H |
probably damaging |
Het |
| Ank2 |
G |
T |
3: 126,723,509 (GRCm39) |
Y3789* |
probably null |
Het |
| Anxa4 |
C |
T |
6: 86,737,719 (GRCm39) |
A1T |
probably damaging |
Het |
| Apba1 |
T |
A |
19: 23,922,362 (GRCm39) |
V810D |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,989,778 (GRCm39) |
I104T |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 75,003,292 (GRCm39) |
Y4721H |
probably damaging |
Het |
| Bmpr2 |
A |
G |
1: 59,907,669 (GRCm39) |
T921A |
probably benign |
Het |
| Ccdc102a |
A |
C |
8: 95,632,554 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
C |
A |
2: 76,869,794 (GRCm39) |
D904Y |
probably damaging |
Het |
| Ccdc96 |
A |
G |
5: 36,642,591 (GRCm39) |
K199R |
probably benign |
Het |
| Cdh10 |
G |
A |
15: 18,986,965 (GRCm39) |
V399I |
probably benign |
Het |
| Cenpk |
A |
G |
13: 104,370,733 (GRCm39) |
T85A |
probably benign |
Het |
| Col6a2 |
A |
C |
10: 76,450,751 (GRCm39) |
V60G |
possibly damaging |
Het |
| Cops7b |
A |
G |
1: 86,526,753 (GRCm39) |
D119G |
probably benign |
Het |
| Cstf2t |
A |
G |
19: 31,061,676 (GRCm39) |
E404G |
possibly damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,630,052 (GRCm39) |
V134E |
probably damaging |
Het |
| Cwh43 |
A |
C |
5: 73,574,085 (GRCm39) |
M250L |
probably benign |
Het |
| Daam2 |
T |
A |
17: 49,776,449 (GRCm39) |
K813* |
probably null |
Het |
| Dhcr24 |
G |
A |
4: 106,443,733 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
G |
T |
17: 30,920,955 (GRCm39) |
R1182L |
probably benign |
Het |
| Doc2a |
C |
T |
7: 126,447,830 (GRCm39) |
P25S |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,317,116 (GRCm39) |
S6823G |
possibly damaging |
Het |
| Espl1 |
T |
A |
15: 102,212,421 (GRCm39) |
L509* |
probably null |
Het |
| Fbxw19 |
C |
T |
9: 109,315,134 (GRCm39) |
V143I |
probably benign |
Het |
| Fbxw5 |
A |
G |
2: 25,394,538 (GRCm39) |
T171A |
possibly damaging |
Het |
| Gfra2 |
C |
T |
14: 71,133,521 (GRCm39) |
T117M |
probably damaging |
Het |
| Gm454 |
T |
A |
5: 138,202,403 (GRCm39) |
|
noncoding transcript |
Het |
| Ilrun |
A |
C |
17: 28,005,207 (GRCm39) |
Y117D |
probably damaging |
Het |
| Kcnq4 |
A |
G |
4: 120,574,705 (GRCm39) |
S120P |
probably damaging |
Het |
| Krt84 |
A |
T |
15: 101,437,155 (GRCm39) |
L336Q |
probably damaging |
Het |
| Lilra6 |
T |
A |
7: 3,917,774 (GRCm39) |
|
probably benign |
Het |
| Mbnl2 |
G |
A |
14: 120,562,736 (GRCm39) |
R29H |
probably damaging |
Het |
| Mcm3ap |
G |
A |
10: 76,338,539 (GRCm39) |
G1389D |
probably benign |
Het |
| Mettl13 |
A |
T |
1: 162,371,954 (GRCm39) |
I305N |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,238,548 (GRCm39) |
S30P |
probably benign |
Het |
| Myh7 |
T |
A |
14: 55,216,646 (GRCm39) |
Q1237L |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,802,619 (GRCm39) |
D2035E |
probably damaging |
Het |
| Nat10 |
A |
G |
2: 103,578,572 (GRCm39) |
S211P |
probably damaging |
Het |
| Ntm |
T |
C |
9: 29,090,395 (GRCm39) |
Y108C |
probably damaging |
Het |
| Or14c39 |
T |
C |
7: 86,344,434 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Or7g25 |
A |
T |
9: 19,160,248 (GRCm39) |
L149* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,613,422 (GRCm39) |
D794G |
probably benign |
Het |
| Phlpp1 |
A |
G |
1: 106,267,345 (GRCm39) |
T753A |
probably benign |
Het |
| Pierce1 |
T |
C |
2: 28,356,036 (GRCm39) |
|
probably benign |
Het |
| Pnldc1 |
T |
C |
17: 13,108,963 (GRCm39) |
Q511R |
possibly damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,689,152 (GRCm39) |
S38P |
possibly damaging |
Het |
| Pygb |
A |
G |
2: 150,665,904 (GRCm39) |
K593E |
probably benign |
Het |
| Rangap1 |
A |
T |
15: 81,589,664 (GRCm39) |
F564I |
probably damaging |
Het |
| Rictor |
A |
T |
15: 6,803,381 (GRCm39) |
I498F |
possibly damaging |
Het |
| Rnase12 |
A |
T |
14: 51,294,613 (GRCm39) |
V22D |
probably benign |
Het |
| Rpl7l1 |
T |
A |
17: 47,091,324 (GRCm39) |
M93L |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,776,103 (GRCm39) |
R1396G |
possibly damaging |
Het |
| Spag6 |
A |
G |
2: 18,715,404 (GRCm39) |
D61G |
probably benign |
Het |
| Spen |
T |
A |
4: 141,206,647 (GRCm39) |
N660I |
unknown |
Het |
| Sptan1 |
T |
G |
2: 29,918,684 (GRCm39) |
C2246G |
probably null |
Het |
| Svopl |
A |
G |
6: 38,013,642 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,928,078 (GRCm39) |
N108K |
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,893,079 (GRCm39) |
D703G |
probably damaging |
Het |
| Tle6 |
G |
T |
10: 81,434,457 (GRCm39) |
N47K |
possibly damaging |
Het |
| Usp48 |
G |
T |
4: 137,343,722 (GRCm39) |
V452L |
probably benign |
Het |
| Ust |
A |
T |
10: 8,173,912 (GRCm39) |
S198T |
probably damaging |
Het |
| Wnk2 |
T |
A |
13: 49,248,894 (GRCm39) |
M386L |
possibly damaging |
Het |
| Ywhaq |
T |
C |
12: 21,441,382 (GRCm39) |
|
probably benign |
Het |
| Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
| Zfp316 |
A |
G |
5: 143,238,993 (GRCm39) |
S1009P |
probably damaging |
Het |
| Zfp963 |
A |
G |
8: 70,197,156 (GRCm39) |
Y29H |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,776,112 (GRCm39) |
|
probably benign |
Het |
| Zranb3 |
A |
G |
1: 128,019,607 (GRCm39) |
I45T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAAAGGCAAAGGCTCTGGC -3'
(R):5'- TGGGAGCAAATGCTTAGCAGTGC -3'
Sequencing Primer
(F):5'- GGCTGGCGAACTCTTTTCAC -3'
(R):5'- CAGCTTAGACTCCTTAGGCAGAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation