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 |
30427108-30466733 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30428786 bp (GRCm38)
|
| 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: 54,679,222 (GRCm38) |
|
probably benign |
Het |
| Adar |
T |
A |
3: 89,747,291 (GRCm38) |
*728C |
probably null |
Het |
| Ap3b1 |
A |
G |
13: 94,479,849 (GRCm38) |
R753G |
unknown |
Het |
| Atp9b |
C |
T |
18: 80,762,184 (GRCm38) |
V720I |
probably benign |
Het |
| AY358078 |
A |
C |
14: 51,826,118 (GRCm38) |
D407A |
probably benign |
Het |
| Ccdc185 |
A |
G |
1: 182,748,789 (GRCm38) |
S112P |
possibly damaging |
Het |
| Cir1 |
A |
G |
2: 73,303,761 (GRCm38) |
S155P |
probably damaging |
Het |
| Colq |
C |
T |
14: 31,552,954 (GRCm38) |
E76K |
possibly damaging |
Het |
| Cthrc1 |
T |
A |
15: 39,084,420 (GRCm38) |
I104N |
probably damaging |
Het |
| D930020B18Rik |
A |
T |
10: 121,667,804 (GRCm38) |
I92L |
probably benign |
Het |
| Eif3i |
C |
T |
4: 129,600,444 (GRCm38) |
E21K |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 64,979,891 (GRCm38) |
M59K |
probably benign |
Het |
| Fam163b |
A |
G |
2: 27,112,749 (GRCm38) |
S79P |
probably benign |
Het |
| Fam181b |
T |
G |
7: 93,081,245 (GRCm38) |
|
probably benign |
Het |
| Fsip2 |
G |
A |
2: 82,991,116 (GRCm38) |
S5731N |
probably benign |
Het |
| Fzd9 |
C |
T |
5: 135,249,859 (GRCm38) |
V391I |
probably damaging |
Het |
| Gbp5 |
A |
G |
3: 142,501,361 (GRCm38) |
D97G |
probably damaging |
Het |
| Gm10715 |
T |
C |
9: 3,038,157 (GRCm38) |
|
probably benign |
Het |
| Grhl1 |
A |
T |
12: 24,603,050 (GRCm38) |
K418M |
probably damaging |
Het |
| H2-Q4 |
T |
A |
17: 35,379,713 (GRCm38) |
|
probably benign |
Het |
| Hmcn1 |
C |
A |
1: 150,610,669 (GRCm38) |
A4329S |
probably damaging |
Het |
| Hspa8 |
T |
C |
9: 40,802,901 (GRCm38) |
|
probably benign |
Het |
| Ica1l |
T |
C |
1: 60,028,154 (GRCm38) |
T26A |
possibly damaging |
Het |
| Ifi209 |
T |
A |
1: 173,644,734 (GRCm38) |
N380K |
probably benign |
Het |
| Inpp5e |
G |
T |
2: 26,399,525 (GRCm38) |
N482K |
probably damaging |
Het |
| Iqsec3 |
C |
T |
6: 121,386,698 (GRCm38) |
V866M |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,779,275 (GRCm38) |
V492A |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,710,844 (GRCm38) |
R647G |
probably benign |
Het |
| Lcmt1 |
T |
G |
7: 123,401,468 (GRCm38) |
V75G |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,485,792 (GRCm38) |
I752V |
possibly damaging |
Het |
| Mmp17 |
C |
A |
5: 129,605,563 (GRCm38) |
P422Q |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,574,242 (GRCm38) |
H165L |
probably benign |
Het |
| Nos3 |
C |
T |
5: 24,371,957 (GRCm38) |
T494I |
probably damaging |
Het |
| Olfr1184 |
C |
T |
2: 88,487,302 (GRCm38) |
T190I |
possibly damaging |
Het |
| Olfr356 |
T |
C |
2: 36,937,803 (GRCm38) |
V228A |
possibly damaging |
Het |
| Olfr52 |
A |
G |
2: 86,181,932 (GRCm38) |
Y60H |
probably damaging |
Het |
| Olfr638 |
T |
C |
7: 104,003,460 (GRCm38) |
Y68H |
probably benign |
Het |
| Pkn2 |
A |
C |
3: 142,839,331 (GRCm38) |
V27G |
probably damaging |
Het |
| Scube2 |
T |
C |
7: 109,799,244 (GRCm38) |
|
probably benign |
Het |
| Skint7 |
A |
G |
4: 111,981,955 (GRCm38) |
I149V |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 69,021,279 (GRCm38) |
I412K |
probably damaging |
Het |
| Speer3 |
C |
G |
5: 13,796,380 (GRCm38) |
A238G |
possibly damaging |
Het |
| Sytl2 |
T |
A |
7: 90,376,082 (GRCm38) |
I426N |
possibly damaging |
Het |
| Tbce |
A |
T |
13: 14,029,405 (GRCm38) |
|
probably benign |
Het |
| Tdpoz2 |
T |
C |
3: 93,652,512 (GRCm38) |
E51G |
possibly damaging |
Het |
| Tmem221 |
A |
G |
8: 71,558,709 (GRCm38) |
L34P |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,779,036 (GRCm38) |
T90A |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,446,202 (GRCm38) |
D42G |
probably damaging |
Het |
| Wt1 |
A |
G |
2: 105,143,125 (GRCm38) |
T237A |
probably damaging |
Het |
|
| Other mutations in Snx19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Snx19
|
APN |
9 |
30,429,084 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL00498:Snx19
|
APN |
9 |
30,428,937 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL00718:Snx19
|
APN |
9 |
30,432,326 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00902:Snx19
|
APN |
9 |
30,428,732 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01433:Snx19
|
APN |
9 |
30,428,771 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01668:Snx19
|
APN |
9 |
30,427,823 (GRCm38) |
missense |
probably benign |
|
|
IGL01732:Snx19
|
APN |
9 |
30,462,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01767:Snx19
|
APN |
9 |
30,463,264 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02638:Snx19
|
APN |
9 |
30,432,364 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
IGL02718:Snx19
|
APN |
9 |
30,432,260 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL02719:Snx19
|
APN |
9 |
30,432,260 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL02723:Snx19
|
APN |
9 |
30,432,260 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL02724:Snx19
|
APN |
9 |
30,432,260 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL02725:Snx19
|
APN |
9 |
30,432,260 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL02892:Snx19
|
APN |
9 |
30,428,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03061:Snx19
|
APN |
9 |
30,433,632 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03402:Snx19
|
APN |
9 |
30,440,134 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0125:Snx19
|
UTSW |
9 |
30,440,219 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0133:Snx19
|
UTSW |
9 |
30,428,616 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R0196:Snx19
|
UTSW |
9 |
30,433,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0423:Snx19
|
UTSW |
9 |
30,435,837 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0635:Snx19
|
UTSW |
9 |
30,428,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0635:Snx19
|
UTSW |
9 |
30,428,810 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1068:Snx19
|
UTSW |
9 |
30,429,018 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1570:Snx19
|
UTSW |
9 |
30,428,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1727:Snx19
|
UTSW |
9 |
30,433,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1895:Snx19
|
UTSW |
9 |
30,432,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1907:Snx19
|
UTSW |
9 |
30,433,576 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1946:Snx19
|
UTSW |
9 |
30,432,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1989:Snx19
|
UTSW |
9 |
30,428,108 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2029:Snx19
|
UTSW |
9 |
30,429,000 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2914:Snx19
|
UTSW |
9 |
30,433,532 (GRCm38) |
unclassified |
probably benign |
|
|
R3880:Snx19
|
UTSW |
9 |
30,462,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4223:Snx19
|
UTSW |
9 |
30,428,448 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4415:Snx19
|
UTSW |
9 |
30,437,483 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4438:Snx19
|
UTSW |
9 |
30,428,599 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4484:Snx19
|
UTSW |
9 |
30,427,896 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4585:Snx19
|
UTSW |
9 |
30,440,195 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4765:Snx19
|
UTSW |
9 |
30,440,157 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4771:Snx19
|
UTSW |
9 |
30,433,638 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4922:Snx19
|
UTSW |
9 |
30,437,467 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5464:Snx19
|
UTSW |
9 |
30,427,973 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R6469:Snx19
|
UTSW |
9 |
30,427,743 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6886:Snx19
|
UTSW |
9 |
30,428,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6988:Snx19
|
UTSW |
9 |
30,428,935 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7131:Snx19
|
UTSW |
9 |
30,427,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7268:Snx19
|
UTSW |
9 |
30,440,177 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7772:Snx19
|
UTSW |
9 |
30,428,925 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8087:Snx19
|
UTSW |
9 |
30,464,402 (GRCm38) |
missense |
probably benign |
|
|
R8211:Snx19
|
UTSW |
9 |
30,437,465 (GRCm38) |
missense |
probably benign |
|
|
R8283:Snx19
|
UTSW |
9 |
30,463,226 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R9000:Snx19
|
UTSW |
9 |
30,464,323 (GRCm38) |
missense |
unknown |
|
|
R9383:Snx19
|
UTSW |
9 |
30,435,900 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9436:Snx19
|
UTSW |
9 |
30,463,306 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R9782:Snx19
|
UTSW |
9 |
30,428,876 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0019:Snx19
|
UTSW |
9 |
30,437,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0024:Snx19
|
UTSW |
9 |
30,427,721 (GRCm38) |
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 |
Incidental Mutation