Incidental Mutation 'IGL02638:Slc17a8'
ID |
301595 |
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 # |
IGL02638
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
89409882-89457111 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 89412465 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 323
(G323*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020102]
[ENSMUST00000105295]
|
AlphaFold |
Q8BFU8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020102
AA Change: G507*
|
SMART Domains |
Protein: ENSMUSP00000020102 Gene: ENSMUSG00000019935 AA Change: G507*
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
AA Change: G323*
|
SMART Domains |
Protein: ENSMUSP00000100932 Gene: ENSMUSG00000019935 AA Change: G323*
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh3 |
T |
A |
2: 93,838,458 (GRCm39) |
T38S |
probably benign |
Het |
Btbd8 |
T |
C |
5: 107,656,422 (GRCm39) |
V895A |
possibly damaging |
Het |
Cdkn2c |
A |
G |
4: 109,522,209 (GRCm39) |
|
probably benign |
Het |
Clca4b |
A |
C |
3: 144,631,939 (GRCm39) |
C189G |
probably damaging |
Het |
Clec4f |
T |
A |
6: 83,629,682 (GRCm39) |
N292I |
possibly damaging |
Het |
Dkk3 |
A |
C |
7: 111,748,234 (GRCm39) |
S123R |
probably benign |
Het |
Dock1 |
C |
T |
7: 134,748,209 (GRCm39) |
A1557V |
probably benign |
Het |
E130308A19Rik |
C |
T |
4: 59,719,676 (GRCm39) |
Q403* |
probably null |
Het |
F5 |
G |
A |
1: 164,012,177 (GRCm39) |
|
probably null |
Het |
Fam98c |
T |
A |
7: 28,852,187 (GRCm39) |
D326V |
probably damaging |
Het |
Firrm |
G |
A |
1: 163,786,868 (GRCm39) |
Q734* |
probably null |
Het |
Frem2 |
A |
C |
3: 53,458,767 (GRCm39) |
V2034G |
possibly damaging |
Het |
Galnt2 |
G |
A |
8: 124,958,318 (GRCm39) |
G18D |
probably damaging |
Het |
Grhl3 |
T |
C |
4: 135,284,176 (GRCm39) |
E222G |
probably benign |
Het |
Hif3a |
A |
C |
7: 16,778,293 (GRCm39) |
|
probably benign |
Het |
Ibtk |
C |
T |
9: 85,601,946 (GRCm39) |
G755D |
probably damaging |
Het |
Laptm4b |
A |
G |
15: 34,277,630 (GRCm39) |
N187S |
probably benign |
Het |
Lrba |
A |
G |
3: 86,232,380 (GRCm39) |
T776A |
probably damaging |
Het |
Matcap2 |
A |
T |
9: 22,341,775 (GRCm39) |
K149* |
probably null |
Het |
Mfhas1 |
T |
A |
8: 36,058,104 (GRCm39) |
W860R |
possibly damaging |
Het |
Mon2 |
A |
C |
10: 122,859,844 (GRCm39) |
W811G |
probably damaging |
Het |
Nup42 |
A |
G |
5: 24,380,505 (GRCm39) |
T167A |
probably benign |
Het |
Or10j2 |
A |
G |
1: 173,097,898 (GRCm39) |
D52G |
probably benign |
Het |
Or2z2 |
C |
A |
11: 58,345,873 (GRCm39) |
A301S |
probably damaging |
Het |
Or4k45 |
T |
C |
2: 111,395,249 (GRCm39) |
D180G |
probably damaging |
Het |
Or5w10 |
T |
C |
2: 87,375,093 (GRCm39) |
Y265C |
probably damaging |
Het |
Or8j3c |
T |
C |
2: 86,254,021 (GRCm39) |
|
probably null |
Het |
Pgap2 |
T |
C |
7: 101,886,629 (GRCm39) |
L217P |
probably damaging |
Het |
Pik3c2b |
T |
G |
1: 133,005,056 (GRCm39) |
|
probably benign |
Het |
Ppfia3 |
T |
A |
7: 45,006,092 (GRCm39) |
D149V |
probably damaging |
Het |
Prkcb |
C |
T |
7: 122,200,063 (GRCm39) |
|
probably benign |
Het |
Prl |
A |
G |
13: 27,245,562 (GRCm39) |
D97G |
probably benign |
Het |
Psma5-ps |
T |
C |
10: 85,149,698 (GRCm39) |
|
noncoding transcript |
Het |
Rnf112 |
T |
C |
11: 61,340,231 (GRCm39) |
|
probably benign |
Het |
Snx19 |
T |
C |
9: 30,343,660 (GRCm39) |
F607L |
possibly damaging |
Het |
Suco |
A |
G |
1: 161,655,256 (GRCm39) |
S1079P |
probably damaging |
Het |
Taf5 |
T |
C |
19: 47,056,649 (GRCm39) |
L149P |
probably benign |
Het |
Taf6l |
T |
C |
19: 8,752,630 (GRCm39) |
M379V |
probably benign |
Het |
Tcf25 |
T |
C |
8: 124,126,031 (GRCm39) |
F558L |
probably damaging |
Het |
Tlcd1 |
T |
C |
11: 78,070,444 (GRCm39) |
V102A |
probably benign |
Het |
Tmc5 |
G |
T |
7: 118,226,456 (GRCm39) |
A274S |
probably benign |
Het |
Toporsl |
C |
T |
4: 52,611,624 (GRCm39) |
H506Y |
probably benign |
Het |
Ubtd1 |
T |
C |
19: 42,022,109 (GRCm39) |
L127P |
possibly damaging |
Het |
Usp24 |
A |
C |
4: 106,295,967 (GRCm39) |
|
probably benign |
Het |
Usp24 |
C |
A |
4: 106,295,969 (GRCm39) |
|
probably benign |
Het |
Usp43 |
T |
G |
11: 67,746,581 (GRCm39) |
D1042A |
probably benign |
Het |
Whrn |
T |
C |
4: 63,337,709 (GRCm39) |
T48A |
possibly damaging |
Het |
Wnt2b |
A |
G |
3: 104,862,032 (GRCm39) |
I102T |
probably benign |
Het |
Zfp763 |
T |
C |
17: 33,238,908 (GRCm39) |
D79G |
probably benign |
Het |
Zmat4 |
A |
G |
8: 24,287,389 (GRCm39) |
Y45C |
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 |
|
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 |