Incidental Mutation 'R1014:Slc30a8'
| ID |
96048 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc30a8
|
| Ensembl Gene |
ENSMUSG00000022315 |
| Gene Name |
solute carrier family 30 (zinc transporter), member 8 |
| Synonyms |
ZnT-8, C820002P14Rik, ZnT8 |
| MMRRC Submission |
039118-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1014 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
52158949-52199194 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52194993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 251
(T251A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035257
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037240]
|
| AlphaFold |
Q8BGG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037240
AA Change: T251A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035257
Gene: ENSMUSG00000022315
AA Change: T251A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
73 |
274 |
6.7e-47 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
T |
C |
4: 126,400,578 (GRCm39) |
R712G |
probably damaging |
Het |
| Arg1 |
C |
A |
10: 24,792,758 (GRCm39) |
V159L |
probably benign |
Het |
| Caap1 |
C |
T |
4: 94,437,383 (GRCm39) |
C193Y |
probably benign |
Het |
| Cdh12 |
A |
T |
15: 21,492,706 (GRCm39) |
M242L |
probably damaging |
Het |
| Col19a1 |
A |
T |
1: 24,340,354 (GRCm39) |
|
probably null |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,674 (GRCm39) |
T101A |
possibly damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,638 (GRCm39) |
C407R |
probably damaging |
Het |
| Ebf4 |
T |
C |
2: 130,207,388 (GRCm39) |
S484P |
probably benign |
Het |
| Gm10300 |
A |
G |
4: 131,802,023 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,808,645 (GRCm39) |
I105T |
possibly damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,132,306 (GRCm39) |
|
probably null |
Het |
| Musk |
T |
C |
4: 58,354,156 (GRCm39) |
L403P |
possibly damaging |
Het |
| Myh11 |
T |
C |
16: 14,054,274 (GRCm39) |
K363R |
possibly damaging |
Het |
| Nadk2 |
T |
C |
15: 9,091,334 (GRCm39) |
F202L |
probably damaging |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,077,355 (GRCm39) |
T897M |
possibly damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,383 (GRCm39) |
W86R |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,684,928 (GRCm39) |
D465G |
probably damaging |
Het |
| Pcdhb11 |
T |
A |
18: 37,556,422 (GRCm39) |
L584Q |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,455,303 (GRCm39) |
L561P |
probably damaging |
Het |
| Pck2 |
A |
G |
14: 55,779,867 (GRCm39) |
S12G |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,353 (GRCm39) |
D726G |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,542,194 (GRCm39) |
A799E |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,662,739 (GRCm39) |
Y117C |
probably benign |
Het |
| Poldip2 |
T |
A |
11: 78,405,988 (GRCm39) |
D106E |
probably damaging |
Het |
| Ppm1d |
C |
A |
11: 85,227,980 (GRCm39) |
H299N |
probably damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,000,643 (GRCm39) |
Y911C |
probably damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rtf1 |
T |
G |
2: 119,550,727 (GRCm39) |
S329A |
possibly damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,054,882 (GRCm39) |
I841T |
probably benign |
Het |
| Slc2a3 |
T |
C |
6: 122,708,525 (GRCm39) |
I367V |
possibly damaging |
Het |
| Spryd3 |
T |
A |
15: 102,041,966 (GRCm39) |
N19Y |
probably damaging |
Het |
| Tll2 |
A |
T |
19: 41,092,290 (GRCm39) |
Y516N |
probably damaging |
Het |
| Tlr5 |
G |
A |
1: 182,803,242 (GRCm39) |
G849R |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,583,192 (GRCm39) |
E376G |
probably damaging |
Het |
| Zfp318 |
GAA |
GAANAA |
17: 46,723,462 (GRCm39) |
|
probably null |
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 |
|
IGL01823:Slc30a8
|
APN |
15 |
52,159,358 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCCAGGGTCAGGAAGATCAATG -3'
(R):5'- CCCCGTGTGCTTGTACTTTGAGAC -3'
Sequencing Primer
(F):5'- TCAGGAAGATCAATGAGTGGC -3'
(R):5'- tgtgtgtgtgtATTTCTATTAGTTCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation