Incidental Mutation 'IGL02334:Slc17a9'
| ID |
288813 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc17a9
|
| Ensembl Gene |
ENSMUSG00000023393 |
| Gene Name |
solute carrier family 17, member 9 |
| Synonyms |
1700019H03Rik, Vnut |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02334
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
180367056-180384073 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 180382536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094218]
[ENSMUST00000094218]
|
| AlphaFold |
Q8VCL5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094218
|
| SMART Domains |
Protein: ENSMUSP00000091771
Gene: ENSMUSG00000023393
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
40 |
398 |
2.3e-53 |
PFAM |
|
transmembrane domain
|
411 |
433 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000094218
|
| SMART Domains |
Protein: ENSMUSP00000091771
Gene: ENSMUSG00000023393
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
40 |
398 |
2.3e-53 |
PFAM |
|
transmembrane domain
|
411 |
433 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139817
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154882
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous knockout affects the neuroendocrine system, resulting in hypoglycemia, increased glucose tolerance and increased insulin sensitivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd46 |
A |
G |
15: 36,486,079 (GRCm39) |
V58A |
possibly damaging |
Het |
| Dhx16 |
A |
G |
17: 36,194,949 (GRCm39) |
E492G |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,747,294 (GRCm39) |
M1535T |
probably damaging |
Het |
| Evpl |
G |
T |
11: 116,121,850 (GRCm39) |
S344* |
probably null |
Het |
| F2 |
A |
T |
2: 91,463,439 (GRCm39) |
H148Q |
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,373,345 (GRCm39) |
H237L |
probably benign |
Het |
| Fscn3 |
A |
T |
6: 28,428,153 (GRCm39) |
|
probably null |
Het |
| Gpr162 |
C |
A |
6: 124,838,123 (GRCm39) |
G176C |
probably damaging |
Het |
| Icam5 |
A |
G |
9: 20,946,505 (GRCm39) |
D376G |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,440,402 (GRCm39) |
K295R |
probably benign |
Het |
| Irf3 |
A |
G |
7: 44,648,134 (GRCm39) |
|
probably benign |
Het |
| Itga2 |
A |
T |
13: 115,001,845 (GRCm39) |
|
probably null |
Het |
| Klhl11 |
A |
T |
11: 100,354,662 (GRCm39) |
D386E |
probably damaging |
Het |
| Myh4 |
G |
T |
11: 67,136,373 (GRCm39) |
G417V |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,455,909 (GRCm39) |
T902A |
probably benign |
Het |
| Or2y17 |
A |
G |
11: 49,232,018 (GRCm39) |
I220V |
probably benign |
Het |
| Or4a72 |
A |
C |
2: 89,405,668 (GRCm39) |
M134R |
possibly damaging |
Het |
| Or9g3 |
A |
T |
2: 85,590,503 (GRCm39) |
Y72* |
probably null |
Het |
| Phf10 |
T |
C |
17: 15,174,361 (GRCm39) |
Y239C |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 120,017,717 (GRCm39) |
F203S |
probably benign |
Het |
| Pramel1 |
T |
C |
4: 143,124,096 (GRCm39) |
F257S |
probably damaging |
Het |
| Prodh2 |
A |
G |
7: 30,205,803 (GRCm39) |
H213R |
probably damaging |
Het |
| Rgs7 |
C |
T |
1: 175,016,788 (GRCm39) |
D61N |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,121,508 (GRCm39) |
|
probably benign |
Het |
| Sct |
C |
A |
7: 140,858,530 (GRCm39) |
|
probably null |
Het |
| Spire1 |
T |
C |
18: 67,639,725 (GRCm39) |
T263A |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,895,690 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
G |
T |
2: 126,649,282 (GRCm39) |
N1469K |
probably benign |
Het |
| Zfp750 |
G |
T |
11: 121,402,837 (GRCm39) |
T637K |
probably benign |
Het |
| Zswim5 |
T |
C |
4: 116,843,841 (GRCm39) |
C960R |
probably damaging |
Het |
| Zwint |
T |
A |
10: 72,490,815 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc17a9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02110:Slc17a9
|
APN |
2 |
180,374,369 (GRCm39) |
splice site |
probably benign |
|
|
IGL02383:Slc17a9
|
APN |
2 |
180,377,674 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02685:Slc17a9
|
APN |
2 |
180,375,602 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03025:Slc17a9
|
APN |
2 |
180,381,609 (GRCm39) |
splice site |
probably null |
|
|
IGL03338:Slc17a9
|
APN |
2 |
180,382,311 (GRCm39) |
splice site |
probably benign |
|
|
R2219:Slc17a9
|
UTSW |
2 |
180,373,755 (GRCm39) |
missense |
probably benign |
|
|
R4615:Slc17a9
|
UTSW |
2 |
180,373,699 (GRCm39) |
missense |
probably benign |
|
|
R4921:Slc17a9
|
UTSW |
2 |
180,377,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6150:Slc17a9
|
UTSW |
2 |
180,379,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6217:Slc17a9
|
UTSW |
2 |
180,379,455 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7342:Slc17a9
|
UTSW |
2 |
180,378,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8120:Slc17a9
|
UTSW |
2 |
180,374,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8936:Slc17a9
|
UTSW |
2 |
180,380,210 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9440:Slc17a9
|
UTSW |
2 |
180,383,090 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9709:Slc17a9
|
UTSW |
2 |
180,374,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation