Incidental Mutation 'IGL02859:Slc17a8'
ID |
362074 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc17a8
|
Ensembl Gene |
ENSMUSG00000019935 |
Gene Name |
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 |
Synonyms |
Vglut3, Vgt3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02859
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
89409882-89457111 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89412446 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 329
(V329A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020102]
[ENSMUST00000105295]
|
AlphaFold |
Q8BFU8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020102
AA Change: V513A
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000020102 Gene: ENSMUSG00000019935 AA Change: V513A
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
51 |
N/A |
INTRINSIC |
internal_repeat_1
|
62 |
77 |
3.74e-7 |
PROSPERO |
internal_repeat_1
|
75 |
90 |
3.74e-7 |
PROSPERO |
Pfam:MFS_1
|
95 |
478 |
1e-46 |
PFAM |
transmembrane domain
|
493 |
515 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105295
AA Change: V329A
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000100932 Gene: ENSMUSG00000019935 AA Change: V329A
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
1 |
294 |
1.1e-34 |
PFAM |
transmembrane domain
|
309 |
331 |
N/A |
INTRINSIC |
|
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 vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010] PHENOTYPE: Mice homozygous for a null allele exhibit sensorineural hearing loss, cochlear ganglion degeneration, decreased synaptic glutamate release, and nonconvulsive seizures. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,415,818 (GRCm39) |
Y637F |
possibly damaging |
Het |
Abcc4 |
A |
G |
14: 118,753,912 (GRCm39) |
I1025T |
probably damaging |
Het |
Adam22 |
C |
A |
5: 8,217,375 (GRCm39) |
R140L |
probably damaging |
Het |
Ahdc1 |
C |
A |
4: 132,790,003 (GRCm39) |
L415I |
possibly damaging |
Het |
Ahdc1 |
T |
A |
4: 132,790,004 (GRCm39) |
L415H |
probably damaging |
Het |
Bivm |
C |
A |
1: 44,176,159 (GRCm39) |
S305* |
probably null |
Het |
Clca4b |
C |
T |
3: 144,617,800 (GRCm39) |
D768N |
probably benign |
Het |
Cobl |
T |
A |
11: 12,319,602 (GRCm39) |
N31Y |
probably damaging |
Het |
Col4a5 |
G |
A |
X: 140,392,846 (GRCm39) |
C484Y |
unknown |
Het |
Ctnnd1 |
T |
C |
2: 84,450,253 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,383,771 (GRCm39) |
T2998A |
probably benign |
Het |
Dnah9 |
T |
A |
11: 65,772,445 (GRCm39) |
|
probably benign |
Het |
F2 |
T |
C |
2: 91,456,087 (GRCm39) |
D558G |
probably damaging |
Het |
Gle1 |
T |
A |
2: 29,839,240 (GRCm39) |
W511R |
probably damaging |
Het |
Gm11564 |
C |
T |
11: 99,705,953 (GRCm39) |
S159N |
unknown |
Het |
Htr6 |
A |
G |
4: 138,801,745 (GRCm39) |
C110R |
probably damaging |
Het |
Ikbke |
T |
A |
1: 131,197,934 (GRCm39) |
S391C |
probably damaging |
Het |
Itgae |
T |
C |
11: 73,005,693 (GRCm39) |
F286L |
probably damaging |
Het |
Kcnb2 |
A |
T |
1: 15,780,730 (GRCm39) |
H534L |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,569,544 (GRCm39) |
Y1059C |
unknown |
Het |
Mul1 |
A |
G |
4: 138,165,660 (GRCm39) |
T106A |
probably damaging |
Het |
Nf2 |
T |
A |
11: 4,741,209 (GRCm39) |
E249V |
probably damaging |
Het |
Nlrp1a |
T |
C |
11: 70,996,912 (GRCm39) |
S965G |
possibly damaging |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Optc |
T |
C |
1: 133,829,799 (GRCm39) |
T204A |
probably damaging |
Het |
Or51f1d |
T |
C |
7: 102,701,345 (GRCm39) |
V280A |
probably benign |
Het |
Or8k37 |
T |
C |
2: 86,469,992 (GRCm39) |
N20S |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,589,912 (GRCm39) |
R787Q |
probably damaging |
Het |
Pim1 |
G |
A |
17: 29,710,909 (GRCm39) |
E171K |
probably damaging |
Het |
Pnpt1 |
T |
C |
11: 29,088,162 (GRCm39) |
V191A |
probably damaging |
Het |
Rbbp8 |
G |
A |
18: 11,871,671 (GRCm39) |
R796Q |
probably benign |
Het |
Serpinb9e |
A |
G |
13: 33,435,633 (GRCm39) |
D22G |
possibly damaging |
Het |
Sit1 |
C |
T |
4: 43,482,831 (GRCm39) |
M109I |
probably benign |
Het |
Smg1 |
T |
A |
7: 117,748,156 (GRCm39) |
|
probably benign |
Het |
Snx7 |
T |
A |
3: 117,623,320 (GRCm39) |
|
probably benign |
Het |
Stat2 |
A |
T |
10: 128,112,480 (GRCm39) |
E40V |
probably damaging |
Het |
Vegfa |
C |
T |
17: 46,335,421 (GRCm39) |
S291N |
probably benign |
Het |
Vmn1r61 |
G |
T |
7: 5,614,288 (GRCm39) |
L9I |
probably benign |
Het |
Wbp4 |
T |
C |
14: 79,708,129 (GRCm39) |
K163E |
probably damaging |
Het |
|
Other mutations in Slc17a8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Slc17a8
|
APN |
10 |
89,427,157 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL00990:Slc17a8
|
APN |
10 |
89,412,392 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01317:Slc17a8
|
APN |
10 |
89,456,666 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01339:Slc17a8
|
APN |
10 |
89,427,106 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01468:Slc17a8
|
APN |
10 |
89,427,883 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02401:Slc17a8
|
APN |
10 |
89,412,522 (GRCm39) |
splice site |
probably null |
|
IGL02638:Slc17a8
|
APN |
10 |
89,412,465 (GRCm39) |
nonsense |
probably null |
|
R0518:Slc17a8
|
UTSW |
10 |
89,412,192 (GRCm39) |
missense |
probably benign |
0.00 |
R0521:Slc17a8
|
UTSW |
10 |
89,412,192 (GRCm39) |
missense |
probably benign |
0.00 |
R0610:Slc17a8
|
UTSW |
10 |
89,412,488 (GRCm39) |
missense |
probably damaging |
0.99 |
R0846:Slc17a8
|
UTSW |
10 |
89,442,596 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0928:Slc17a8
|
UTSW |
10 |
89,434,545 (GRCm39) |
missense |
probably damaging |
1.00 |
R1277:Slc17a8
|
UTSW |
10 |
89,433,319 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1401:Slc17a8
|
UTSW |
10 |
89,427,076 (GRCm39) |
missense |
probably damaging |
1.00 |
R1854:Slc17a8
|
UTSW |
10 |
89,442,627 (GRCm39) |
missense |
unknown |
|
R1935:Slc17a8
|
UTSW |
10 |
89,413,777 (GRCm39) |
missense |
probably benign |
0.03 |
R1936:Slc17a8
|
UTSW |
10 |
89,413,777 (GRCm39) |
missense |
probably benign |
0.03 |
R3887:Slc17a8
|
UTSW |
10 |
89,427,000 (GRCm39) |
splice site |
probably benign |
|
R4227:Slc17a8
|
UTSW |
10 |
89,434,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R4872:Slc17a8
|
UTSW |
10 |
89,412,367 (GRCm39) |
missense |
probably benign |
0.38 |
R5023:Slc17a8
|
UTSW |
10 |
89,412,422 (GRCm39) |
missense |
probably benign |
0.01 |
R5330:Slc17a8
|
UTSW |
10 |
89,425,356 (GRCm39) |
critical splice donor site |
probably null |
|
R5331:Slc17a8
|
UTSW |
10 |
89,425,356 (GRCm39) |
critical splice donor site |
probably null |
|
R5576:Slc17a8
|
UTSW |
10 |
89,433,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R5593:Slc17a8
|
UTSW |
10 |
89,442,702 (GRCm39) |
missense |
probably benign |
|
R6035:Slc17a8
|
UTSW |
10 |
89,427,937 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6035:Slc17a8
|
UTSW |
10 |
89,427,937 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7038:Slc17a8
|
UTSW |
10 |
89,436,083 (GRCm39) |
missense |
probably benign |
0.00 |
R7220:Slc17a8
|
UTSW |
10 |
89,412,275 (GRCm39) |
missense |
probably benign |
|
R7514:Slc17a8
|
UTSW |
10 |
89,427,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R7574:Slc17a8
|
UTSW |
10 |
89,428,008 (GRCm39) |
missense |
probably benign |
0.01 |
R7689:Slc17a8
|
UTSW |
10 |
89,433,319 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8145:Slc17a8
|
UTSW |
10 |
89,412,233 (GRCm39) |
missense |
probably benign |
0.00 |
R8693:Slc17a8
|
UTSW |
10 |
89,428,758 (GRCm39) |
missense |
probably benign |
0.08 |
R8857:Slc17a8
|
UTSW |
10 |
89,427,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R9163:Slc17a8
|
UTSW |
10 |
89,425,444 (GRCm39) |
missense |
probably damaging |
0.99 |
X0021:Slc17a8
|
UTSW |
10 |
89,434,544 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Slc17a8
|
UTSW |
10 |
89,428,774 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-12-18 |