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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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