Incidental Mutation 'R0635:Snx19'
| ID |
56610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snx19
|
| Ensembl Gene |
ENSMUSG00000031993 |
| Gene Name |
sorting nexin 19 |
| Synonyms |
3526401K03Rik |
| MMRRC Submission |
038824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R0635 (G1)
|
| Quality Score |
202 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
30338404-30378029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 30340106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 415
(L415M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164099]
|
| AlphaFold |
Q6P4T1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164099
AA Change: L415M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: L415M
| 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 |
0.0692 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
99% (68/69) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,264,891 (GRCm39) |
|
probably benign |
Het |
| Adamts15 |
A |
G |
9: 30,816,066 (GRCm39) |
L631P |
probably damaging |
Het |
| Adamts17 |
T |
C |
7: 66,558,353 (GRCm39) |
F266L |
probably damaging |
Het |
| Adgrb1 |
C |
A |
15: 74,412,741 (GRCm39) |
Q488K |
possibly damaging |
Het |
| Armh4 |
A |
G |
14: 50,010,600 (GRCm39) |
L369S |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,328,538 (GRCm39) |
D109G |
probably damaging |
Het |
| Chil5 |
A |
T |
3: 105,924,519 (GRCm39) |
Y229N |
possibly damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,074,285 (GRCm39) |
T742A |
probably benign |
Het |
| Col6a3 |
A |
T |
1: 90,735,808 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
G |
A |
9: 105,805,805 (GRCm39) |
P1034S |
unknown |
Het |
| Daxx |
T |
A |
17: 34,131,618 (GRCm39) |
D442E |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,984,490 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,971,731 (GRCm39) |
F2942S |
probably damaging |
Het |
| Garin4 |
T |
C |
1: 190,895,924 (GRCm39) |
T240A |
probably benign |
Het |
| Glg1 |
A |
G |
8: 111,890,396 (GRCm39) |
|
probably benign |
Het |
| Gm10272 |
G |
A |
10: 77,542,535 (GRCm39) |
|
probably benign |
Het |
| Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
| Haao |
A |
G |
17: 84,146,003 (GRCm39) |
F83S |
probably damaging |
Het |
| Hdgfl2 |
T |
A |
17: 56,403,057 (GRCm39) |
L177Q |
probably damaging |
Het |
| Hrh1 |
T |
C |
6: 114,457,106 (GRCm39) |
V129A |
probably damaging |
Het |
| Ift43 |
T |
A |
12: 86,131,855 (GRCm39) |
|
probably benign |
Het |
| Il21r |
T |
C |
7: 125,231,678 (GRCm39) |
Y369H |
probably damaging |
Het |
| Il2ra |
C |
T |
2: 11,685,177 (GRCm39) |
T171M |
probably benign |
Het |
| Lao1 |
C |
T |
4: 118,825,493 (GRCm39) |
R438C |
probably benign |
Het |
| Lrrcc1 |
G |
A |
3: 14,624,288 (GRCm39) |
S350N |
probably benign |
Het |
| Mageb5 |
T |
A |
X: 90,823,599 (GRCm39) |
Y260F |
probably benign |
Het |
| Marchf5 |
A |
T |
19: 37,197,807 (GRCm39) |
I159F |
possibly damaging |
Het |
| Mgat4a |
G |
A |
1: 37,491,375 (GRCm39) |
A282V |
probably benign |
Het |
| Mipep |
G |
A |
14: 61,066,839 (GRCm39) |
V420I |
probably damaging |
Het |
| Morc2b |
A |
T |
17: 33,356,661 (GRCm39) |
F370L |
possibly damaging |
Het |
| Mt1 |
A |
T |
8: 94,906,449 (GRCm39) |
|
probably null |
Het |
| Ncapd2 |
A |
G |
6: 125,149,999 (GRCm39) |
V943A |
probably benign |
Het |
| Nkd2 |
T |
C |
13: 73,975,013 (GRCm39) |
D58G |
probably benign |
Het |
| Nol8 |
C |
G |
13: 49,830,234 (GRCm39) |
S1106C |
probably benign |
Het |
| Nrm |
C |
A |
17: 36,175,156 (GRCm39) |
Y61* |
probably null |
Het |
| Nusap1 |
A |
G |
2: 119,458,148 (GRCm39) |
T95A |
probably damaging |
Het |
| Ocln |
T |
A |
13: 100,642,744 (GRCm39) |
Q197L |
probably damaging |
Het |
| Or5p70 |
T |
A |
7: 107,994,971 (GRCm39) |
F215I |
probably benign |
Het |
| Oxtr |
A |
G |
6: 112,466,161 (GRCm39) |
Y200H |
probably damaging |
Het |
| Paip2b |
T |
C |
6: 83,786,891 (GRCm39) |
E115G |
possibly damaging |
Het |
| Pcm1 |
T |
A |
8: 41,720,216 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,240,419 (GRCm39) |
D1205G |
probably damaging |
Het |
| Phka1 |
G |
A |
X: 101,665,006 (GRCm39) |
R186C |
probably damaging |
Het |
| Pik3cb |
A |
G |
9: 98,946,271 (GRCm39) |
|
probably benign |
Het |
| Pik3r1 |
C |
T |
13: 101,893,926 (GRCm39) |
R81K |
probably benign |
Het |
| Ppa1 |
A |
G |
10: 61,501,219 (GRCm39) |
D162G |
probably benign |
Het |
| Ppa1 |
A |
G |
10: 61,502,749 (GRCm39) |
R191G |
probably damaging |
Het |
| Ppp4r3c2 |
T |
C |
X: 88,796,128 (GRCm39) |
|
probably benign |
Het |
| Prss22 |
T |
A |
17: 24,215,662 (GRCm39) |
T87S |
probably benign |
Het |
| Rgr |
T |
A |
14: 36,760,904 (GRCm39) |
R218* |
probably null |
Het |
| Rreb1 |
A |
T |
13: 38,125,540 (GRCm39) |
Q1282L |
possibly damaging |
Het |
| Scel |
T |
A |
14: 103,820,575 (GRCm39) |
|
probably null |
Het |
| Sema6b |
A |
G |
17: 56,436,971 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
T |
C |
11: 102,243,498 (GRCm39) |
E711G |
possibly damaging |
Het |
| Specc1 |
G |
A |
11: 62,009,729 (GRCm39) |
R495Q |
probably damaging |
Het |
| Tead1 |
T |
C |
7: 112,490,913 (GRCm39) |
|
probably benign |
Het |
| Timm10b |
A |
C |
7: 105,289,895 (GRCm39) |
|
probably benign |
Het |
| Ubxn7 |
T |
A |
16: 32,186,235 (GRCm39) |
|
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,605,861 (GRCm39) |
Y258N |
possibly damaging |
Het |
| Vmn2r77 |
T |
A |
7: 86,460,383 (GRCm39) |
F570I |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,300,759 (GRCm39) |
V587A |
probably benign |
Het |
| Zfp398 |
T |
C |
6: 47,840,074 (GRCm39) |
I101T |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,320,233 (GRCm39) |
H487Q |
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 |
|
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'- GAAGCTGTAGAGGGAGATTTGCCTG -3'
(R):5'- TTCAAGGGAGCACACACCACTG -3'
Sequencing Primer
(F):5'- GGAAATAGCTCATCCCATTTTCTAC -3'
(R):5'- GTTCCTCCAGCAAAGCTGTAAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation