Incidental Mutation 'R1068:Snx19'
| ID |
86091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx19
|
| Ensembl Gene |
ENSMUSG00000031993 |
| Gene Name |
sorting nexin 19 |
| Synonyms |
3526401K03Rik |
| MMRRC Submission |
039154-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R1068 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
30338404-30378029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30340314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 484
(R484Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164099]
|
| AlphaFold |
Q6P4T1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164099
AA Change: R484Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: R484Q
| 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 |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.6%
- 20x: 94.9%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
T |
18: 69,083,139 (GRCm39) |
V25E |
unknown |
Het |
| Acsm4 |
C |
A |
7: 119,307,933 (GRCm39) |
Q357K |
probably benign |
Het |
| Adam11 |
T |
G |
11: 102,667,204 (GRCm39) |
L619R |
probably damaging |
Het |
| Ccne2 |
A |
G |
4: 11,192,850 (GRCm39) |
N17S |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,829,830 (GRCm39) |
H313R |
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,543,361 (GRCm39) |
H833L |
probably damaging |
Het |
| Csnk1a1 |
G |
T |
18: 61,702,634 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
T |
C |
19: 39,801,025 (GRCm39) |
K77E |
possibly damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,186,109 (GRCm39) |
E159G |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,881,330 (GRCm39) |
V3181I |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,526,801 (GRCm39) |
D99G |
possibly damaging |
Het |
| Garem1 |
T |
C |
18: 21,301,812 (GRCm39) |
E125G |
probably benign |
Het |
| Kcnf1 |
A |
G |
12: 17,225,475 (GRCm39) |
Y249H |
probably damaging |
Het |
| Kit |
C |
T |
5: 75,770,178 (GRCm39) |
H197Y |
probably benign |
Het |
| Memo1 |
T |
A |
17: 74,532,550 (GRCm39) |
I153F |
probably damaging |
Het |
| Myh7 |
T |
A |
14: 55,224,776 (GRCm39) |
N597I |
possibly damaging |
Het |
| Nop2 |
A |
G |
6: 125,109,242 (GRCm39) |
K23E |
probably damaging |
Het |
| Nxf1 |
T |
A |
19: 8,740,118 (GRCm39) |
V95E |
probably damaging |
Het |
| Pamr1 |
T |
A |
2: 102,472,590 (GRCm39) |
C630S |
probably damaging |
Het |
| Ptprh |
G |
T |
7: 4,552,462 (GRCm39) |
P934Q |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,837,095 (GRCm39) |
|
probably null |
Het |
| Ralyl |
T |
A |
3: 13,841,949 (GRCm39) |
N28K |
probably damaging |
Het |
| Rasgrp1 |
A |
G |
2: 117,113,057 (GRCm39) |
V785A |
probably benign |
Het |
| Rpp30 |
T |
A |
19: 36,061,138 (GRCm39) |
M1K |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Speer4a1 |
A |
T |
5: 26,241,024 (GRCm39) |
L156Q |
probably null |
Het |
| St18 |
A |
G |
1: 6,865,786 (GRCm39) |
D88G |
probably benign |
Het |
| Syt7 |
T |
C |
19: 10,421,375 (GRCm39) |
Y520H |
probably benign |
Het |
| Taf7l2 |
C |
T |
10: 115,949,359 (GRCm39) |
V56I |
probably damaging |
Het |
| Tle4 |
C |
G |
19: 14,429,543 (GRCm39) |
W674C |
probably damaging |
Het |
| Tnik |
T |
A |
3: 28,587,124 (GRCm39) |
Y132N |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vps11 |
A |
T |
9: 44,264,316 (GRCm39) |
L719Q |
probably damaging |
Het |
| Zc3h4 |
T |
G |
7: 16,163,161 (GRCm39) |
H520Q |
unknown |
Het |
| Zdbf2 |
C |
T |
1: 63,342,589 (GRCm39) |
R323C |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,973,767 (GRCm39) |
*99K |
probably null |
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 |
|
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'- TCACCACTGTCTGAACTGAGCAAAG -3'
(R):5'- CAGTGTGTATGGGTGGAATCCAGTC -3'
Sequencing Primer
(F):5'- CCTTTCTGACAGGATTCAAGATGC -3'
(R):5'- TGGAATCCAGTCCCACTGTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation