Incidental Mutation 'R0846:Slc17a8'
ID |
77376 |
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 |
039025-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0846 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
89409882-89457111 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89442596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 79
(D79G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020102]
|
AlphaFold |
Q8BFU8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020102
AA Change: D79G
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000020102 Gene: ENSMUSG00000019935 AA Change: D79G
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 |
|
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.2%
- 20x: 90.2%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
T |
C |
6: 86,936,071 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
G |
A |
13: 81,627,861 (GRCm39) |
R3667* |
probably null |
Het |
Adh5 |
T |
G |
3: 138,156,835 (GRCm39) |
C174G |
probably damaging |
Het |
Cap1 |
A |
C |
4: 122,756,692 (GRCm39) |
|
probably null |
Het |
Caps2 |
G |
A |
10: 112,051,490 (GRCm39) |
R587H |
probably damaging |
Het |
Ccn1 |
T |
A |
3: 145,353,525 (GRCm39) |
M346L |
possibly damaging |
Het |
Cdo1 |
A |
G |
18: 46,848,812 (GRCm39) |
V142A |
probably damaging |
Het |
Chuk |
T |
C |
19: 44,079,467 (GRCm39) |
T345A |
probably damaging |
Het |
Cobll1 |
T |
C |
2: 64,932,409 (GRCm39) |
|
probably null |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cop1 |
T |
C |
1: 159,147,386 (GRCm39) |
Y571H |
probably benign |
Het |
Cstpp1 |
T |
A |
2: 91,214,182 (GRCm39) |
T58S |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,959,283 (GRCm39) |
V163A |
probably benign |
Het |
Dnah11 |
G |
T |
12: 117,897,585 (GRCm39) |
N3548K |
probably damaging |
Het |
Ehhadh |
G |
T |
16: 21,592,247 (GRCm39) |
S152* |
probably null |
Het |
Fitm2 |
T |
C |
2: 163,311,734 (GRCm39) |
T160A |
probably benign |
Het |
Fos |
C |
T |
12: 85,522,457 (GRCm39) |
T162I |
probably damaging |
Het |
Fsd2 |
T |
C |
7: 81,190,145 (GRCm39) |
I546V |
probably benign |
Het |
Gal3st2c |
T |
C |
1: 93,934,669 (GRCm39) |
V19A |
possibly damaging |
Het |
Gorasp2 |
T |
A |
2: 70,521,298 (GRCm39) |
S443T |
probably benign |
Het |
Klf4 |
G |
A |
4: 55,530,191 (GRCm39) |
H307Y |
probably damaging |
Het |
Ldc1 |
A |
C |
4: 130,115,417 (GRCm39) |
S44A |
probably benign |
Het |
Mark3 |
A |
G |
12: 111,593,658 (GRCm39) |
D230G |
possibly damaging |
Het |
Mnat1 |
T |
G |
12: 73,170,706 (GRCm39) |
|
probably null |
Het |
Or5m9b |
T |
C |
2: 85,905,510 (GRCm39) |
L142P |
possibly damaging |
Het |
Otogl |
T |
G |
10: 107,608,157 (GRCm39) |
T2073P |
probably benign |
Het |
Pdxdc1 |
A |
C |
16: 13,672,257 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
T |
C |
15: 44,358,993 (GRCm39) |
S401P |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,901,627 (GRCm39) |
Y262H |
probably damaging |
Het |
Pramel19 |
A |
T |
4: 101,798,447 (GRCm39) |
K139N |
probably benign |
Het |
Scamp4 |
T |
C |
10: 80,450,537 (GRCm39) |
F205L |
probably benign |
Het |
Scn1a |
C |
T |
2: 66,155,099 (GRCm39) |
S620N |
probably benign |
Het |
Scn7a |
C |
T |
2: 66,527,944 (GRCm39) |
D849N |
possibly damaging |
Het |
Sync |
A |
G |
4: 129,187,897 (GRCm39) |
S310G |
probably benign |
Het |
Tbc1d9b |
A |
C |
11: 50,062,148 (GRCm39) |
I1219L |
probably benign |
Het |
Vmn1r47 |
T |
A |
6: 89,999,657 (GRCm39) |
M263K |
probably benign |
Het |
Zfp773 |
A |
T |
7: 7,135,691 (GRCm39) |
C302S |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTATGTCTCCTGGAGTCCAAGGTC -3'
(R):5'- TTTTACAGCGCAAGCTGAGCCC -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- TGCCTCACCTTGAATACTGG -3'
|
Posted On |
2013-10-16 |