Incidental Mutation 'IGL02401:Slc17a8'
ID |
291896 |
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 # |
IGL02401
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
89409882-89457111 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 89412522 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020102]
[ENSMUST00000105295]
|
AlphaFold |
Q8BFU8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020102
|
SMART Domains |
Protein: ENSMUSP00000020102 Gene: ENSMUSG00000019935
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 null
Transcript: ENSMUST00000105295
|
SMART Domains |
Protein: ENSMUSP00000100932 Gene: ENSMUSG00000019935
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef18 |
C |
T |
8: 3,487,078 (GRCm39) |
R266C |
probably damaging |
Het |
Asb11 |
A |
T |
X: 163,241,753 (GRCm39) |
|
probably benign |
Het |
Cnot1 |
G |
A |
8: 96,482,761 (GRCm39) |
T764M |
possibly damaging |
Het |
Galns |
A |
G |
8: 123,331,938 (GRCm39) |
M59T |
probably damaging |
Het |
Gm5884 |
A |
G |
6: 128,622,377 (GRCm39) |
|
noncoding transcript |
Het |
Gm9312 |
A |
C |
12: 24,302,106 (GRCm39) |
|
noncoding transcript |
Het |
Lama3 |
T |
C |
18: 12,690,784 (GRCm39) |
F1268S |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,643,585 (GRCm39) |
C1347R |
probably damaging |
Het |
Lrrfip1 |
T |
C |
1: 91,042,650 (GRCm39) |
S352P |
probably benign |
Het |
Mcfd2 |
T |
C |
17: 87,564,592 (GRCm39) |
T97A |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,929,983 (GRCm39) |
N23S |
possibly damaging |
Het |
Nr1i3 |
A |
T |
1: 171,043,942 (GRCm39) |
|
probably benign |
Het |
Or4c10b |
T |
C |
2: 89,711,797 (GRCm39) |
F209S |
probably damaging |
Het |
Or8b48 |
C |
T |
9: 38,492,651 (GRCm39) |
P26L |
probably damaging |
Het |
Orm2 |
A |
C |
4: 63,281,568 (GRCm39) |
I100L |
probably benign |
Het |
Pbsn |
A |
G |
X: 76,886,129 (GRCm39) |
M126T |
probably benign |
Het |
Rpgr |
G |
T |
X: 10,024,956 (GRCm39) |
T1026K |
possibly damaging |
Het |
Sdhaf3 |
C |
T |
6: 7,038,855 (GRCm39) |
T59M |
probably benign |
Het |
Shq1 |
T |
C |
6: 100,625,208 (GRCm39) |
Y217C |
probably damaging |
Het |
Slc6a19 |
A |
G |
13: 73,848,709 (GRCm39) |
I15T |
probably damaging |
Het |
Smarcd3 |
A |
T |
5: 24,798,717 (GRCm39) |
V335E |
probably damaging |
Het |
Sugp2 |
A |
G |
8: 70,695,821 (GRCm39) |
T265A |
possibly damaging |
Het |
Tfrc |
T |
G |
16: 32,435,999 (GRCm39) |
S225R |
probably damaging |
Het |
Vsig10l |
T |
A |
7: 43,113,468 (GRCm39) |
L140Q |
probably damaging |
Het |
Zbtb46 |
T |
A |
2: 181,065,245 (GRCm39) |
T302S |
probably benign |
Het |
Znhit1 |
T |
C |
5: 137,011,513 (GRCm39) |
Y105C |
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 |
|
IGL02638:Slc17a8
|
APN |
10 |
89,412,465 (GRCm39) |
nonsense |
probably null |
|
IGL02859:Slc17a8
|
APN |
10 |
89,412,446 (GRCm39) |
missense |
probably benign |
0.11 |
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 |
2015-04-16 |