Incidental Mutation 'R5576:Slc17a8'
ID |
437223 |
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 |
043131-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5576 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
89409882-89457111 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89433364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 220
(W220R)
|
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: W220R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000020102 Gene: ENSMUSG00000019935 AA Change: W220R
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 damaging
Transcript: ENSMUST00000105295
AA Change: W36R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000100932 Gene: ENSMUSG00000019935 AA Change: W36R
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.5%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
G |
A |
5: 109,885,570 (GRCm39) |
T96I |
probably benign |
Het |
Add2 |
G |
T |
6: 86,084,457 (GRCm39) |
|
probably null |
Het |
Agbl1 |
C |
T |
7: 75,984,985 (GRCm39) |
T134M |
probably benign |
Het |
Agfg1 |
T |
A |
1: 82,848,445 (GRCm39) |
S32T |
probably benign |
Het |
Ankrd17 |
A |
C |
5: 90,391,083 (GRCm39) |
S2087A |
probably benign |
Het |
Apob |
A |
T |
12: 8,048,662 (GRCm39) |
E1012V |
probably damaging |
Het |
Baiap2 |
T |
A |
11: 119,887,737 (GRCm39) |
V297E |
probably benign |
Het |
BC034090 |
T |
G |
1: 155,117,214 (GRCm39) |
K301N |
probably benign |
Het |
Bhlha9 |
T |
C |
11: 76,563,595 (GRCm39) |
I74T |
probably damaging |
Het |
Btnl9 |
T |
C |
11: 49,069,712 (GRCm39) |
H189R |
probably benign |
Het |
Ccdc122 |
G |
A |
14: 77,329,317 (GRCm39) |
M123I |
probably benign |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,724,922 (GRCm39) |
|
probably null |
Het |
Dnaja2 |
A |
T |
8: 86,266,033 (GRCm39) |
L351I |
possibly damaging |
Het |
Efcab6 |
C |
A |
15: 83,834,201 (GRCm39) |
S469I |
probably benign |
Het |
Esp15 |
C |
A |
17: 39,953,564 (GRCm39) |
T17K |
probably damaging |
Het |
Fads1 |
A |
G |
19: 10,163,238 (GRCm39) |
T172A |
probably benign |
Het |
Fbp2 |
A |
T |
13: 62,985,005 (GRCm39) |
D305E |
probably benign |
Het |
Golga4 |
A |
G |
9: 118,382,602 (GRCm39) |
T541A |
probably benign |
Het |
Herc3 |
T |
C |
6: 58,865,710 (GRCm39) |
Y768H |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,753,931 (GRCm39) |
V514A |
possibly damaging |
Het |
Melk |
A |
G |
4: 44,312,255 (GRCm39) |
E141G |
probably null |
Het |
Nln |
A |
G |
13: 104,195,338 (GRCm39) |
Y245H |
probably damaging |
Het |
Nrap |
C |
T |
19: 56,310,414 (GRCm39) |
R1563H |
probably damaging |
Het |
Or7g34 |
T |
A |
9: 19,478,369 (GRCm39) |
M101L |
probably benign |
Het |
Or8b44 |
A |
C |
9: 38,410,204 (GRCm39) |
K80Q |
probably damaging |
Het |
Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
Pex11g |
A |
G |
8: 3,515,875 (GRCm39) |
S53P |
probably damaging |
Het |
Pole |
A |
T |
5: 110,459,931 (GRCm39) |
K1112* |
probably null |
Het |
Ppfia4 |
T |
G |
1: 134,250,788 (GRCm39) |
D184A |
possibly damaging |
Het |
Rpp30 |
T |
A |
19: 36,079,251 (GRCm39) |
D216E |
probably benign |
Het |
Sbno2 |
C |
T |
10: 79,903,171 (GRCm39) |
A398T |
probably damaging |
Het |
Sbp |
T |
A |
17: 24,164,552 (GRCm39) |
S94T |
probably benign |
Het |
Skp1 |
T |
G |
11: 52,133,415 (GRCm39) |
D33E |
possibly damaging |
Het |
Slfn9 |
A |
T |
11: 82,872,258 (GRCm39) |
M826K |
probably benign |
Het |
Snx2 |
A |
G |
18: 53,343,822 (GRCm39) |
K322E |
probably benign |
Het |
Spata32 |
T |
A |
11: 103,100,653 (GRCm39) |
N38I |
possibly damaging |
Het |
Sycp1 |
T |
C |
3: 102,726,218 (GRCm39) |
R969G |
probably damaging |
Het |
Trgc2 |
T |
C |
13: 19,489,301 (GRCm39) |
I144V |
probably benign |
Het |
Trpc1 |
A |
G |
9: 95,603,377 (GRCm39) |
L385S |
probably damaging |
Het |
Vmn2r105 |
C |
T |
17: 20,444,836 (GRCm39) |
|
probably null |
Het |
Xrcc6 |
T |
A |
15: 81,906,693 (GRCm39) |
D79E |
probably damaging |
Het |
Zan |
A |
T |
5: 137,426,744 (GRCm39) |
C2467* |
probably null |
Het |
Zfp26 |
A |
G |
9: 20,348,803 (GRCm39) |
V587A |
possibly damaging |
Het |
Zfp553 |
C |
T |
7: 126,835,875 (GRCm39) |
R477C |
possibly 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 |
|
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 |
|
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'- GACTTTGAAGTTACTTGAAGCCAA -3'
(R):5'- TCTGTTTGGGTGTCAGTAATACAGT -3'
Sequencing Primer
(F):5'- CTCTGCTACATATGCAGCTGGAG -3'
(R):5'- GTGCTGTCAACATATTCAGTGACCG -3'
|
Posted On |
2016-10-26 |