Incidental Mutation 'IGL02082:Slc17a6'
ID |
283401 |
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 # |
IGL02082
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
51271754-51320867 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 51318777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 473
(R473L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032710]
[ENSMUST00000207945]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032710
AA Change: R473L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000032710 Gene: ENSMUSG00000030500 AA Change: R473L
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp9b |
A |
C |
18: 80,935,145 (GRCm39) |
|
probably benign |
Het |
Brinp3 |
T |
C |
1: 146,627,600 (GRCm39) |
C278R |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,917,320 (GRCm39) |
S47G |
unknown |
Het |
Clec16a |
T |
C |
16: 10,432,432 (GRCm39) |
L484P |
probably damaging |
Het |
Cnksr1 |
C |
A |
4: 133,963,363 (GRCm39) |
G71C |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,428,317 (GRCm39) |
N246I |
possibly damaging |
Het |
Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
Focad |
C |
T |
4: 88,148,815 (GRCm39) |
Q511* |
probably null |
Het |
Gpr63 |
A |
G |
4: 25,008,564 (GRCm39) |
|
probably benign |
Het |
Iah1 |
C |
A |
12: 21,367,405 (GRCm39) |
S37* |
probably null |
Het |
Inpp4a |
T |
A |
1: 37,405,708 (GRCm39) |
|
probably benign |
Het |
Mcm2 |
A |
T |
6: 88,865,218 (GRCm39) |
Y486* |
probably null |
Het |
Mtmr10 |
A |
G |
7: 63,983,238 (GRCm39) |
|
probably benign |
Het |
Nbea |
A |
G |
3: 55,875,588 (GRCm39) |
L1694S |
possibly damaging |
Het |
Pafah1b1 |
A |
G |
11: 74,590,159 (GRCm39) |
S4P |
probably benign |
Het |
Rnase10 |
A |
T |
14: 51,246,856 (GRCm39) |
E41V |
probably damaging |
Het |
Spata31g1 |
A |
G |
4: 42,970,198 (GRCm39) |
T2A |
probably benign |
Het |
Tbc1d9b |
A |
G |
11: 50,054,709 (GRCm39) |
D951G |
probably benign |
Het |
Tk1 |
C |
A |
11: 117,716,553 (GRCm39) |
|
probably null |
Het |
Trim46 |
C |
A |
3: 89,146,307 (GRCm39) |
A395S |
probably benign |
Het |
Vmn1r113 |
C |
T |
7: 20,521,672 (GRCm39) |
H155Y |
probably benign |
Het |
Vmn1r222 |
A |
G |
13: 23,416,499 (GRCm39) |
M238T |
probably damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
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 |
IGL01653:Slc17a6
|
APN |
7 |
51,317,770 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01993:Slc17a6
|
APN |
7 |
51,317,705 (GRCm39) |
missense |
possibly damaging |
0.51 |
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 |
2015-04-16 |