Incidental Mutation 'R1614:Slc17a6'
| ID |
176997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc17a6
|
| Ensembl Gene |
ENSMUSG00000030500 |
| Gene Name |
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 |
| Synonyms |
VGLUT2, 2900073D12Rik |
| MMRRC Submission |
039651-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1614 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
51271754-51320867 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 51296025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032710]
[ENSMUST00000207945]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032710
|
| SMART Domains |
Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
76 |
461 |
6.5e-50 |
PFAM |
|
transmembrane domain
|
476 |
498 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207375
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208597
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.4%
|
| Validation Efficiency |
100% (53/53) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl9 |
A |
G |
5: 77,158,412 (GRCm39) |
T165A |
probably benign |
Het |
| Atpaf1 |
A |
T |
4: 115,653,954 (GRCm39) |
K201N |
possibly damaging |
Het |
| Cacna1b |
G |
T |
2: 24,580,819 (GRCm39) |
Q676K |
possibly damaging |
Het |
| Ccdc88c |
A |
T |
12: 100,879,243 (GRCm39) |
H1959Q |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,094,985 (GRCm39) |
D808G |
probably damaging |
Het |
| Chct1 |
T |
G |
11: 85,063,690 (GRCm39) |
S28A |
possibly damaging |
Het |
| Chtf18 |
A |
G |
17: 25,946,064 (GRCm39) |
L42P |
probably benign |
Het |
| Cox7c |
A |
G |
13: 86,193,904 (GRCm39) |
F40L |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,949,517 (GRCm39) |
V442I |
probably benign |
Het |
| Dst |
T |
C |
1: 34,314,344 (GRCm39) |
F4198S |
probably damaging |
Het |
| Fam13a |
T |
A |
6: 58,917,169 (GRCm39) |
D569V |
probably damaging |
Het |
| Gm6741 |
T |
A |
17: 91,544,424 (GRCm39) |
H62Q |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,250,451 (GRCm39) |
T172A |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,751,172 (GRCm39) |
S1013P |
probably damaging |
Het |
| Insl5 |
A |
T |
4: 102,883,846 (GRCm39) |
L25* |
probably null |
Het |
| Ipo13 |
A |
G |
4: 117,761,815 (GRCm39) |
S462P |
probably benign |
Het |
| Itgb1 |
G |
A |
8: 129,446,546 (GRCm39) |
C401Y |
probably damaging |
Het |
| Kcnh7 |
G |
T |
2: 62,680,948 (GRCm39) |
A213E |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Mesp2 |
T |
C |
7: 79,461,367 (GRCm39) |
S231P |
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,510,511 (GRCm39) |
N164D |
possibly damaging |
Het |
| Nop53 |
A |
G |
7: 15,679,890 (GRCm39) |
V30A |
probably benign |
Het |
| Or1j17 |
T |
G |
2: 36,578,321 (GRCm39) |
Y102* |
probably null |
Het |
| Or4a73 |
T |
A |
2: 89,421,040 (GRCm39) |
I140L |
possibly damaging |
Het |
| Or4f54 |
T |
A |
2: 111,123,411 (GRCm39) |
V266E |
probably damaging |
Het |
| Or4f62 |
T |
A |
2: 111,986,862 (GRCm39) |
C189S |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,492,620 (GRCm39) |
R918C |
probably damaging |
Het |
| Pecam1 |
T |
C |
11: 106,571,905 (GRCm39) |
D554G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,634,199 (GRCm39) |
I744V |
possibly damaging |
Het |
| Pop1 |
C |
A |
15: 34,530,356 (GRCm39) |
A918D |
possibly damaging |
Het |
| Ppp2r5e |
C |
G |
12: 75,516,341 (GRCm39) |
A239P |
probably damaging |
Het |
| Prmt3 |
A |
T |
7: 49,476,467 (GRCm39) |
I359F |
possibly damaging |
Het |
| Proz |
G |
A |
8: 13,116,904 (GRCm39) |
C152Y |
probably damaging |
Het |
| Ptgfr |
A |
C |
3: 151,507,416 (GRCm39) |
Y316D |
probably benign |
Het |
| Ralgapa2 |
G |
T |
2: 146,230,532 (GRCm39) |
S1011Y |
probably damaging |
Het |
| Rnf43 |
C |
T |
11: 87,622,485 (GRCm39) |
R529* |
probably null |
Het |
| Slc25a19 |
A |
T |
11: 115,507,449 (GRCm39) |
C224* |
probably null |
Het |
| Smarcd3 |
A |
G |
5: 24,799,874 (GRCm39) |
S299P |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,528,156 (GRCm39) |
F1471S |
possibly damaging |
Het |
| Strada |
A |
C |
11: 106,059,145 (GRCm39) |
V211G |
probably damaging |
Het |
| Tom1l1 |
T |
C |
11: 90,574,080 (GRCm39) |
E68G |
probably damaging |
Het |
| Vmn2r27 |
T |
G |
6: 124,200,893 (GRCm39) |
I355L |
probably benign |
Het |
| Vmn2r68 |
A |
T |
7: 84,870,946 (GRCm39) |
M779K |
possibly damaging |
Het |
| Zbtb18 |
T |
C |
1: 177,274,736 (GRCm39) |
L23P |
probably damaging |
Het |
| Zfp112 |
G |
T |
7: 23,826,024 (GRCm39) |
C664F |
probably damaging |
Het |
| Zfp955a |
A |
T |
17: 33,461,306 (GRCm39) |
N275K |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGTAGATTAGAAACGGGCTC -3'
(R):5'- GCAGAGGCAGGAATATCTCTGTG -3'
Sequencing Primer
(F):5'- GGAGGGGATGTGCTAACTTC -3'
(R):5'- GTGATTTCTAGGCCAGCCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation