Incidental Mutation 'IGL01823:Slc30a8'
| ID |
154611 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc30a8
|
| Ensembl Gene |
ENSMUSG00000022315 |
| Gene Name |
solute carrier family 30 (zinc transporter), member 8 |
| Synonyms |
ZnT-8, C820002P14Rik, ZnT8 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01823
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
52158949-52199194 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 52159358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037240]
|
| AlphaFold |
Q8BGG0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037240
|
| SMART Domains |
Protein: ENSMUSP00000035257
Gene: ENSMUSG00000022315
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
73 |
274 |
6.7e-47 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced islet zinc levels, circulating insulin levels, and glucose-stimulated insulin secretion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp6 |
A |
G |
13: 38,682,798 (GRCm39) |
T460A |
probably damaging |
Het |
| Cd209a |
T |
C |
8: 3,798,851 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,212,391 (GRCm39) |
L1250P |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,485,865 (GRCm39) |
N104D |
probably damaging |
Het |
| Fam161a |
A |
T |
11: 22,965,785 (GRCm39) |
E26V |
probably damaging |
Het |
| Foxa3 |
T |
C |
7: 18,748,443 (GRCm39) |
T228A |
probably benign |
Het |
| Gm8206 |
A |
T |
14: 6,017,078 (GRCm38) |
D133E |
probably benign |
Het |
| Ighv1-15 |
T |
A |
12: 114,621,212 (GRCm39) |
T38S |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,719,091 (GRCm39) |
D266G |
possibly damaging |
Het |
| Man2a1 |
T |
C |
17: 64,973,819 (GRCm39) |
I365T |
probably damaging |
Het |
| Mcm4 |
T |
C |
16: 15,443,995 (GRCm39) |
D756G |
probably damaging |
Het |
| Mroh9 |
G |
A |
1: 162,883,178 (GRCm39) |
L434F |
probably benign |
Het |
| Or13p4 |
A |
G |
4: 118,546,918 (GRCm39) |
C244R |
probably damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,249 (GRCm39) |
C95R |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,645,507 (GRCm39) |
Y313F |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,284,444 (GRCm39) |
S103G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,556,483 (GRCm39) |
I87V |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,386 (GRCm39) |
F1766L |
probably damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,574 (GRCm39) |
V362D |
possibly damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,083,724 (GRCm39) |
D917G |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,544,012 (GRCm39) |
V110A |
probably damaging |
Het |
| Slc5a8 |
T |
A |
10: 88,755,334 (GRCm39) |
C480* |
probably null |
Het |
| Tmppe |
A |
G |
9: 114,234,175 (GRCm39) |
K158R |
probably benign |
Het |
| Tubb6 |
A |
G |
18: 67,535,343 (GRCm39) |
N414S |
probably damaging |
Het |
| Wnt8a |
A |
T |
18: 34,677,846 (GRCm39) |
T85S |
possibly damaging |
Het |
|
| Other mutations in Slc30a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Slc30a8
|
APN |
15 |
52,169,955 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01988:Slc30a8
|
APN |
15 |
52,198,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02517:Slc30a8
|
APN |
15 |
52,198,530 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03376:Slc30a8
|
APN |
15 |
52,169,853 (GRCm39) |
nonsense |
probably null |
|
|
R0480:Slc30a8
|
UTSW |
15 |
52,188,966 (GRCm39) |
missense |
probably benign |
|
|
R1014:Slc30a8
|
UTSW |
15 |
52,194,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1725:Slc30a8
|
UTSW |
15 |
52,197,000 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1827:Slc30a8
|
UTSW |
15 |
52,194,953 (GRCm39) |
splice site |
probably null |
|
|
R2126:Slc30a8
|
UTSW |
15 |
52,159,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2232:Slc30a8
|
UTSW |
15 |
52,169,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3911:Slc30a8
|
UTSW |
15 |
52,185,097 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4613:Slc30a8
|
UTSW |
15 |
52,196,971 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4820:Slc30a8
|
UTSW |
15 |
52,169,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5790:Slc30a8
|
UTSW |
15 |
52,197,043 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6020:Slc30a8
|
UTSW |
15 |
52,189,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6125:Slc30a8
|
UTSW |
15 |
52,198,530 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6250:Slc30a8
|
UTSW |
15 |
52,198,545 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6701:Slc30a8
|
UTSW |
15 |
52,194,970 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7227:Slc30a8
|
UTSW |
15 |
52,195,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7313:Slc30a8
|
UTSW |
15 |
52,180,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7997:Slc30a8
|
UTSW |
15 |
52,189,081 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Posted On |
2014-02-04 |
Incidental Mutation