Incidental Mutation 'IGL01993:Slc17a6'
| ID |
182077 |
| 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 # |
IGL01993
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
51271754-51320867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51317705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 446
(M446T)
|
| 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: M446T
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
AA Change: M446T
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,208,452 (GRCm39) |
|
probably benign |
Het |
| Acnat2 |
A |
T |
4: 49,380,131 (GRCm39) |
S398T |
probably benign |
Het |
| Adgrb2 |
G |
T |
4: 129,912,635 (GRCm39) |
E1296D |
possibly damaging |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
C |
A |
2: 25,164,725 (GRCm39) |
D322E |
probably benign |
Het |
| Apobec1 |
A |
G |
6: 122,565,138 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
T |
C |
15: 99,595,353 (GRCm39) |
V393A |
probably benign |
Het |
| Cfap65 |
A |
C |
1: 74,959,702 (GRCm39) |
F816C |
probably damaging |
Het |
| Cfap69 |
A |
C |
5: 5,631,284 (GRCm39) |
L914R |
probably damaging |
Het |
| Cgas |
A |
G |
9: 78,349,802 (GRCm39) |
S187P |
probably benign |
Het |
| Cspg4 |
C |
T |
9: 56,805,762 (GRCm39) |
T2191I |
probably benign |
Het |
| Cyp11a1 |
T |
A |
9: 57,928,106 (GRCm39) |
I210N |
probably damaging |
Het |
| Dgkb |
T |
A |
12: 38,032,009 (GRCm39) |
Y24N |
probably benign |
Het |
| Epc1 |
T |
C |
18: 6,449,136 (GRCm39) |
T504A |
possibly damaging |
Het |
| Fam135a |
A |
T |
1: 24,094,992 (GRCm39) |
D125E |
probably damaging |
Het |
| Fgd3 |
T |
C |
13: 49,433,664 (GRCm39) |
H345R |
possibly damaging |
Het |
| Gm12253 |
T |
C |
11: 58,325,379 (GRCm39) |
V17A |
probably damaging |
Het |
| Hars1 |
C |
T |
18: 36,903,265 (GRCm39) |
G355D |
probably damaging |
Het |
| Hpgd |
A |
T |
8: 56,772,097 (GRCm39) |
I190F |
probably benign |
Het |
| Ighv1-34 |
A |
T |
12: 114,815,003 (GRCm39) |
M53K |
probably benign |
Het |
| Ildr2 |
A |
T |
1: 166,096,939 (GRCm39) |
T53S |
possibly damaging |
Het |
| Ints5 |
T |
A |
19: 8,872,829 (GRCm39) |
C263S |
probably benign |
Het |
| Lars2 |
T |
C |
9: 123,224,008 (GRCm39) |
|
probably benign |
Het |
| Ldha |
G |
A |
7: 46,504,524 (GRCm39) |
A349T |
possibly damaging |
Het |
| Map3k2 |
T |
A |
18: 32,359,684 (GRCm39) |
C512* |
probably null |
Het |
| Parp4 |
G |
A |
14: 56,848,245 (GRCm39) |
R687Q |
possibly damaging |
Het |
| Plk2 |
T |
C |
13: 110,535,731 (GRCm39) |
S518P |
probably damaging |
Het |
| Prrc2b |
T |
G |
2: 32,114,057 (GRCm39) |
V2036G |
possibly damaging |
Het |
| Psg16 |
T |
A |
7: 16,827,631 (GRCm39) |
S196T |
probably benign |
Het |
| Psme3ip1 |
G |
T |
8: 95,302,380 (GRCm39) |
A217D |
possibly damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,450,770 (GRCm39) |
T56A |
possibly damaging |
Het |
| Retsat |
T |
C |
6: 72,581,978 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
G |
T |
9: 37,335,949 (GRCm39) |
L484I |
probably damaging |
Het |
| Septin4 |
G |
T |
11: 87,458,555 (GRCm39) |
G310W |
possibly damaging |
Het |
| Slc38a1 |
G |
A |
15: 96,521,927 (GRCm39) |
T11M |
probably damaging |
Het |
| Tmem138 |
T |
C |
19: 10,548,952 (GRCm39) |
N106S |
probably benign |
Het |
| Traf1 |
G |
A |
2: 34,836,879 (GRCm39) |
|
probably benign |
Het |
| Tspan8 |
T |
C |
10: 115,675,913 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,973,256 (GRCm39) |
E2615G |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,219,977 (GRCm39) |
I58T |
possibly damaging |
Het |
| Zc3h12c |
A |
G |
9: 52,027,611 (GRCm39) |
S603P |
probably damaging |
Het |
| Zfp746 |
A |
T |
6: 48,059,092 (GRCm39) |
S172R |
probably damaging |
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 |
|
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 |
2014-05-07 |
Incidental Mutation