Incidental Mutation 'R5096:Snx19'
ID |
388047 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snx19
|
Ensembl Gene |
ENSMUSG00000031993 |
Gene Name |
sorting nexin 19 |
Synonyms |
3526401K03Rik |
MMRRC Submission |
042685-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R5096 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
30338404-30378029 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30340082 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 407
(C407S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164099]
|
AlphaFold |
Q6P4T1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000164099
AA Change: C407S
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000131895 Gene: ENSMUSG00000031993 AA Change: C407S
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
|
Meta Mutation Damage Score |
0.0595 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.6%
|
Validation Efficiency |
95% (61/64) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
A |
T |
14: 54,916,679 (GRCm39) |
|
probably benign |
Het |
Adar |
T |
A |
3: 89,654,598 (GRCm39) |
*728C |
probably null |
Het |
Ap3b1 |
A |
G |
13: 94,616,357 (GRCm39) |
R753G |
unknown |
Het |
Atp9b |
C |
T |
18: 80,805,399 (GRCm39) |
V720I |
probably benign |
Het |
AY358078 |
A |
C |
14: 52,063,575 (GRCm39) |
D407A |
probably benign |
Het |
Ccdc185 |
A |
G |
1: 182,576,354 (GRCm39) |
S112P |
possibly damaging |
Het |
Cir1 |
A |
G |
2: 73,134,105 (GRCm39) |
S155P |
probably damaging |
Het |
Colq |
C |
T |
14: 31,274,911 (GRCm39) |
E76K |
possibly damaging |
Het |
Cthrc1 |
T |
A |
15: 38,947,815 (GRCm39) |
I104N |
probably damaging |
Het |
D930020B18Rik |
A |
T |
10: 121,503,709 (GRCm39) |
I92L |
probably benign |
Het |
Eif3i |
C |
T |
4: 129,494,237 (GRCm39) |
E21K |
probably damaging |
Het |
Fam114a1 |
T |
A |
5: 65,137,234 (GRCm39) |
M59K |
probably benign |
Het |
Fam163b |
A |
G |
2: 27,002,761 (GRCm39) |
S79P |
probably benign |
Het |
Fam181b |
T |
G |
7: 92,730,452 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,821,460 (GRCm39) |
S5731N |
probably benign |
Het |
Fzd9 |
C |
T |
5: 135,278,713 (GRCm39) |
V391I |
probably damaging |
Het |
Gbp5 |
A |
G |
3: 142,207,122 (GRCm39) |
D97G |
probably damaging |
Het |
Gm10715 |
T |
C |
9: 3,038,157 (GRCm39) |
|
probably benign |
Het |
Grhl1 |
A |
T |
12: 24,653,049 (GRCm39) |
K418M |
probably damaging |
Het |
H2-Q4 |
T |
A |
17: 35,598,689 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
C |
A |
1: 150,486,420 (GRCm39) |
A4329S |
probably damaging |
Het |
Hspa8 |
T |
C |
9: 40,714,197 (GRCm39) |
|
probably benign |
Het |
Ica1l |
T |
C |
1: 60,067,313 (GRCm39) |
T26A |
possibly damaging |
Het |
Ifi209 |
T |
A |
1: 173,472,300 (GRCm39) |
N380K |
probably benign |
Het |
Inpp5e |
G |
T |
2: 26,289,537 (GRCm39) |
N482K |
probably damaging |
Het |
Iqsec3 |
C |
T |
6: 121,363,657 (GRCm39) |
V866M |
probably damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,756,260 (GRCm39) |
V492A |
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,781,068 (GRCm39) |
R647G |
probably benign |
Het |
Lcmt1 |
T |
G |
7: 123,000,691 (GRCm39) |
V75G |
probably damaging |
Het |
Lrp4 |
A |
G |
2: 91,316,137 (GRCm39) |
I752V |
possibly damaging |
Het |
Mmp17 |
C |
A |
5: 129,682,627 (GRCm39) |
P422Q |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,464,254 (GRCm39) |
H165L |
probably benign |
Het |
Nos3 |
C |
T |
5: 24,576,955 (GRCm39) |
T494I |
probably damaging |
Het |
Or1ak2 |
T |
C |
2: 36,827,815 (GRCm39) |
V228A |
possibly damaging |
Het |
Or4p22 |
C |
T |
2: 88,317,646 (GRCm39) |
T190I |
possibly damaging |
Het |
Or51q1c |
T |
C |
7: 103,652,667 (GRCm39) |
Y68H |
probably benign |
Het |
Or8u8 |
A |
G |
2: 86,012,276 (GRCm39) |
Y60H |
probably damaging |
Het |
Pkn2 |
A |
C |
3: 142,545,092 (GRCm39) |
V27G |
probably damaging |
Het |
Scube2 |
T |
C |
7: 109,398,451 (GRCm39) |
|
probably benign |
Het |
Skint7 |
A |
G |
4: 111,839,152 (GRCm39) |
I149V |
probably damaging |
Het |
Smc4 |
T |
A |
3: 68,928,612 (GRCm39) |
I412K |
probably damaging |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Sytl2 |
T |
A |
7: 90,025,290 (GRCm39) |
I426N |
possibly damaging |
Het |
Tbce |
A |
T |
13: 14,203,990 (GRCm39) |
|
probably benign |
Het |
Tdpoz2 |
T |
C |
3: 93,559,819 (GRCm39) |
E51G |
possibly damaging |
Het |
Tmem221 |
A |
G |
8: 72,011,353 (GRCm39) |
L34P |
probably damaging |
Het |
Tmem92 |
T |
C |
11: 94,669,862 (GRCm39) |
T90A |
probably benign |
Het |
Tpr |
A |
G |
1: 150,321,953 (GRCm39) |
D42G |
probably damaging |
Het |
Wt1 |
A |
G |
2: 104,973,470 (GRCm39) |
T237A |
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 |
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 |
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'- AAGCTGTAGAGGGAGATTTGCC -3'
(R):5'- GCTGTAAGAGAGGTGTCATCTCC -3'
Sequencing Primer
(F):5'- TGCCTGGGATGCTCGAAG -3'
(R):5'- AAGAGAGGTGTCATCTCCTTGCTC -3'
|
Posted On |
2016-06-06 |