Incidental Mutation 'R4227:Slc17a8'
ID |
320095 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc17a8
|
Ensembl Gene |
ENSMUSG00000019935 |
Gene Name |
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 |
Synonyms |
Vglut3, Vgt3 |
MMRRC Submission |
041047-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4227 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
89409882-89457111 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89434575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 184
(N184S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020102]
[ENSMUST00000105295]
|
AlphaFold |
Q8BFU8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020102
AA Change: N184S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020102 Gene: ENSMUSG00000019935 AA Change: N184S
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
|
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 |
|
Meta Mutation Damage Score |
0.1592 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (56/58) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,115,120 (GRCm39) |
T609A |
probably damaging |
Het |
Agbl2 |
T |
G |
2: 90,631,797 (GRCm39) |
L385R |
probably damaging |
Het |
Arfgef2 |
A |
T |
2: 166,709,244 (GRCm39) |
D1107V |
probably damaging |
Het |
Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
B9d1 |
C |
G |
11: 61,403,483 (GRCm39) |
R160G |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
Ceacam12 |
G |
T |
7: 17,805,678 (GRCm39) |
M288I |
probably benign |
Het |
Cfhr3 |
T |
A |
1: 139,536,046 (GRCm39) |
|
noncoding transcript |
Het |
Copa |
A |
G |
1: 171,945,682 (GRCm39) |
|
probably benign |
Het |
Cypt4 |
A |
G |
9: 24,536,788 (GRCm39) |
M93V |
probably benign |
Het |
Fat3 |
G |
A |
9: 16,288,989 (GRCm39) |
T178I |
probably damaging |
Het |
Gm15931 |
A |
G |
7: 4,277,793 (GRCm39) |
|
noncoding transcript |
Het |
Gm9871 |
A |
G |
6: 101,773,654 (GRCm39) |
|
noncoding transcript |
Het |
Gpsm1 |
T |
C |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
Grhl1 |
A |
G |
12: 24,661,850 (GRCm39) |
T510A |
probably benign |
Het |
Kcnn3 |
A |
C |
3: 89,428,482 (GRCm39) |
H236P |
possibly damaging |
Het |
Kif21b |
T |
A |
1: 136,081,831 (GRCm39) |
|
probably null |
Het |
Lcn3 |
G |
T |
2: 25,656,123 (GRCm39) |
M59I |
probably benign |
Het |
Mrps27 |
C |
G |
13: 99,547,848 (GRCm39) |
P253A |
probably damaging |
Het |
Mug2 |
A |
T |
6: 122,017,691 (GRCm39) |
D476V |
probably benign |
Het |
Naca |
A |
T |
10: 127,877,530 (GRCm39) |
|
probably benign |
Het |
Naip5 |
A |
G |
13: 100,349,276 (GRCm39) |
S1351P |
probably damaging |
Het |
Odf2 |
A |
G |
2: 29,791,296 (GRCm39) |
|
probably benign |
Het |
Or2a56 |
A |
G |
6: 42,932,648 (GRCm39) |
Y72C |
possibly damaging |
Het |
Or4g17 |
A |
G |
2: 111,209,410 (GRCm39) |
K22E |
probably benign |
Het |
Or52ab7 |
A |
T |
7: 102,978,026 (GRCm39) |
H111L |
probably damaging |
Het |
Or5w18 |
T |
A |
2: 87,633,219 (GRCm39) |
I162N |
probably damaging |
Het |
P3h2 |
G |
T |
16: 25,924,203 (GRCm39) |
D77E |
probably benign |
Het |
Pcbp2 |
A |
G |
15: 102,387,066 (GRCm39) |
M87V |
probably benign |
Het |
Plekhg6 |
A |
G |
6: 125,355,768 (GRCm39) |
L12P |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,874,223 (GRCm39) |
T503A |
probably benign |
Het |
Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
Ptprb |
T |
C |
10: 116,138,130 (GRCm39) |
Y345H |
possibly damaging |
Het |
Rasl11b |
T |
A |
5: 74,358,852 (GRCm39) |
I119N |
probably damaging |
Het |
Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
Serpina10 |
A |
G |
12: 103,594,674 (GRCm39) |
Y182H |
probably damaging |
Het |
Serpina1d |
A |
G |
12: 103,733,740 (GRCm39) |
V188A |
probably benign |
Het |
Setd1a |
C |
A |
7: 127,395,819 (GRCm39) |
|
probably benign |
Het |
Spen |
C |
T |
4: 141,249,458 (GRCm39) |
S110N |
unknown |
Het |
Tas1r1 |
T |
C |
4: 152,112,729 (GRCm39) |
I775V |
probably damaging |
Het |
Tktl2 |
A |
G |
8: 66,966,351 (GRCm39) |
|
probably null |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
Try5 |
A |
G |
6: 41,290,401 (GRCm39) |
Y28H |
possibly damaging |
Het |
Urad |
A |
T |
5: 147,252,100 (GRCm39) |
F117L |
probably damaging |
Het |
Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
Vmn2r45 |
A |
T |
7: 8,486,277 (GRCm39) |
V337E |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,445,369 (GRCm39) |
F696L |
probably damaging |
Het |
Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
Zfp131 |
T |
C |
13: 120,228,282 (GRCm39) |
D455G |
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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAACCTTAGTCCCTTTGGAG -3'
(R):5'- CTCCCATCTCTGAAATCACAACT -3'
Sequencing Primer
(F):5'- GAAACTTGAGATTCCCCCTGC -3'
(R):5'- CACGGCCCTATTTTATTGAGACAGG -3'
|
Posted On |
2015-06-12 |