Incidental Mutation 'IGL01653:Slc17a6'
| ID |
102892 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc17a6
|
| Ensembl Gene |
ENSMUSG00000030500 |
| Gene Name |
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 |
| Synonyms |
VGLUT2, 2900073D12Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
51271754-51320867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51317770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 468
(T468A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032710]
[ENSMUST00000207945]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032710
AA Change: T468A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
AA Change: T468A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
76 |
461 |
6.5e-50 |
PFAM |
|
transmembrane domain
|
476 |
498 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207945
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for null mutations display neonatal lethality, respiratory failure, and abnormal nervous system physiology. Heterozygous mice for one allele display abnormal miniature EPSC and reduced responses to neuropathic pain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933421I07Rik |
T |
C |
7: 42,096,398 (GRCm39) |
D119G |
probably damaging |
Het |
| Apol7c |
A |
G |
15: 77,410,500 (GRCm39) |
C149R |
probably damaging |
Het |
| Arfgef1 |
G |
A |
1: 10,230,133 (GRCm39) |
R1235* |
probably null |
Het |
| Bpifb4 |
A |
G |
2: 153,786,703 (GRCm39) |
D285G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,986,043 (GRCm39) |
H1682Q |
possibly damaging |
Het |
| Cerk |
G |
T |
15: 86,033,552 (GRCm39) |
Y290* |
probably null |
Het |
| Cyld |
A |
T |
8: 89,467,998 (GRCm39) |
I544F |
probably damaging |
Het |
| Dcp1a |
T |
C |
14: 30,227,528 (GRCm39) |
S134P |
possibly damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ephb4 |
A |
G |
5: 137,364,003 (GRCm39) |
|
probably benign |
Het |
| Fcgr3 |
A |
T |
1: 170,886,849 (GRCm39) |
L25Q |
probably damaging |
Het |
| Heatr3 |
A |
G |
8: 88,871,245 (GRCm39) |
I83V |
probably benign |
Het |
| Hormad1 |
T |
A |
3: 95,485,608 (GRCm39) |
N265K |
possibly damaging |
Het |
| Kpna1 |
A |
G |
16: 35,840,562 (GRCm39) |
T201A |
probably benign |
Het |
| Krt6b |
T |
A |
15: 101,587,549 (GRCm39) |
T182S |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,414,088 (GRCm39) |
K755E |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,169,314 (GRCm39) |
T1568M |
probably damaging |
Het |
| Muc4 |
G |
T |
16: 32,581,722 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,960,770 (GRCm39) |
S1028P |
unknown |
Het |
| Nhlrc2 |
C |
T |
19: 56,559,282 (GRCm39) |
R256C |
probably benign |
Het |
| Or4c123 |
T |
A |
2: 89,127,471 (GRCm39) |
T48S |
probably benign |
Het |
| Or5a3 |
G |
A |
19: 12,399,736 (GRCm39) |
R21H |
probably benign |
Het |
| Pfkfb4 |
G |
A |
9: 108,828,202 (GRCm39) |
R79H |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,315,904 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
C |
T |
4: 144,000,429 (GRCm39) |
R49H |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,304,079 (GRCm39) |
S613T |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,778,022 (GRCm39) |
E2158G |
probably damaging |
Het |
| Scgb2b19 |
T |
A |
7: 32,979,153 (GRCm39) |
Y43F |
probably damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,119,147 (GRCm39) |
D374G |
possibly damaging |
Het |
| Wdtc1 |
T |
C |
4: 133,022,543 (GRCm39) |
D601G |
probably damaging |
Het |
| Zfp1007 |
A |
C |
5: 109,825,182 (GRCm39) |
Y89* |
probably null |
Het |
|
| Other mutations in Slc17a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01408:Slc17a6
|
APN |
7 |
51,318,863 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01993:Slc17a6
|
APN |
7 |
51,317,705 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02082:Slc17a6
|
APN |
7 |
51,318,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02212:Slc17a6
|
APN |
7 |
51,317,218 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02544:Slc17a6
|
APN |
7 |
51,315,903 (GRCm39) |
nonsense |
probably null |
|
|
IGL02585:Slc17a6
|
APN |
7 |
51,275,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03206:Slc17a6
|
APN |
7 |
51,315,771 (GRCm39) |
splice site |
probably benign |
|
|
IGL03396:Slc17a6
|
APN |
7 |
51,318,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Slc17a6
|
UTSW |
7 |
51,315,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0141:Slc17a6
|
UTSW |
7 |
51,318,815 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0207:Slc17a6
|
UTSW |
7 |
51,295,928 (GRCm39) |
intron |
probably benign |
|
|
R0362:Slc17a6
|
UTSW |
7 |
51,308,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0841:Slc17a6
|
UTSW |
7 |
51,275,063 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1037:Slc17a6
|
UTSW |
7 |
51,298,996 (GRCm39) |
splice site |
probably benign |
|
|
R1325:Slc17a6
|
UTSW |
7 |
51,311,300 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1614:Slc17a6
|
UTSW |
7 |
51,296,025 (GRCm39) |
intron |
probably benign |
|
|
R1625:Slc17a6
|
UTSW |
7 |
51,311,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1736:Slc17a6
|
UTSW |
7 |
51,311,333 (GRCm39) |
splice site |
probably benign |
|
|
R1777:Slc17a6
|
UTSW |
7 |
51,295,957 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1824:Slc17a6
|
UTSW |
7 |
51,311,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2249:Slc17a6
|
UTSW |
7 |
51,317,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4283:Slc17a6
|
UTSW |
7 |
51,294,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Slc17a6
|
UTSW |
7 |
51,308,489 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5301:Slc17a6
|
UTSW |
7 |
51,308,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5523:Slc17a6
|
UTSW |
7 |
51,276,598 (GRCm39) |
nonsense |
probably null |
|
|
R5570:Slc17a6
|
UTSW |
7 |
51,308,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5720:Slc17a6
|
UTSW |
7 |
51,275,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5736:Slc17a6
|
UTSW |
7 |
51,294,841 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5765:Slc17a6
|
UTSW |
7 |
51,275,249 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6380:Slc17a6
|
UTSW |
7 |
51,317,211 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6989:Slc17a6
|
UTSW |
7 |
51,311,224 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7178:Slc17a6
|
UTSW |
7 |
51,317,259 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7194:Slc17a6
|
UTSW |
7 |
51,276,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Slc17a6
|
UTSW |
7 |
51,294,766 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7766:Slc17a6
|
UTSW |
7 |
51,318,914 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7877:Slc17a6
|
UTSW |
7 |
51,275,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7898:Slc17a6
|
UTSW |
7 |
51,308,573 (GRCm39) |
splice site |
probably null |
|
|
R8059:Slc17a6
|
UTSW |
7 |
51,294,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8788:Slc17a6
|
UTSW |
7 |
51,298,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation