Incidental Mutation 'R7766:Slc17a6'
| ID |
598241 |
| 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 |
045822-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7766 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
51271754-51320867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51318914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 519
(I519F)
|
| 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: I519F
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
AA Change: I519F
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,615,300 (GRCm39) |
F58S |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,331,540 (GRCm39) |
M1309K |
probably benign |
Het |
| Ascc1 |
A |
T |
10: 59,840,641 (GRCm39) |
M1L |
probably damaging |
Het |
| Ccdc85b |
A |
T |
19: 5,506,880 (GRCm39) |
S182R |
probably damaging |
Het |
| Cnpy3 |
G |
T |
17: 47,048,161 (GRCm39) |
Q185K |
possibly damaging |
Het |
| Cyp3a41a |
A |
G |
5: 145,654,827 (GRCm39) |
Y25H |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,592,101 (GRCm39) |
F725I |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,167,782 (GRCm39) |
F1022L |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,080,725 (GRCm39) |
L63P |
probably benign |
Het |
| Egr4 |
C |
T |
6: 85,489,181 (GRCm39) |
G293D |
probably damaging |
Het |
| Fv1 |
T |
A |
4: 147,953,727 (GRCm39) |
F98I |
possibly damaging |
Het |
| Gfm2 |
C |
T |
13: 97,286,908 (GRCm39) |
S169F |
probably damaging |
Het |
| Hexim2 |
C |
G |
11: 103,029,838 (GRCm39) |
P297A |
probably benign |
Het |
| Hnrnpab |
G |
A |
11: 51,492,293 (GRCm39) |
T314I |
unknown |
Het |
| Ift88 |
T |
C |
14: 57,685,111 (GRCm39) |
F309S |
possibly damaging |
Het |
| Ins2 |
T |
A |
7: 142,232,494 (GRCm39) |
T97S |
probably benign |
Het |
| Itga2 |
T |
C |
13: 114,990,427 (GRCm39) |
I905V |
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,127,094 (GRCm39) |
Y720C |
probably damaging |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kcna6 |
T |
A |
6: 126,716,682 (GRCm39) |
D69V |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,496,846 (GRCm39) |
C588R |
probably damaging |
Het |
| Lrrc17 |
A |
T |
5: 21,766,042 (GRCm39) |
T175S |
probably benign |
Het |
| Morc2b |
A |
T |
17: 33,357,397 (GRCm39) |
M125K |
probably benign |
Het |
| Ms4a4b |
A |
C |
19: 11,427,352 (GRCm39) |
M24L |
probably benign |
Het |
| Myh13 |
A |
C |
11: 67,249,155 (GRCm39) |
S1292R |
probably benign |
Het |
| Nat10 |
T |
C |
2: 103,556,052 (GRCm39) |
D923G |
probably benign |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,326,333 (GRCm39) |
I2425M |
probably benign |
Het |
| Oasl1 |
G |
T |
5: 115,075,169 (GRCm39) |
A410S |
probably damaging |
Het |
| Or52d1 |
T |
A |
7: 103,756,201 (GRCm39) |
C238* |
probably null |
Het |
| Or5p80 |
C |
T |
7: 108,229,583 (GRCm39) |
S128F |
probably benign |
Het |
| Or9g4b |
T |
A |
2: 85,616,002 (GRCm39) |
I49N |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,458,286 (GRCm39) |
K507E |
probably benign |
Het |
| Pdcl2 |
T |
C |
5: 76,465,743 (GRCm39) |
N159S |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,736,809 (GRCm39) |
K445E |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,474 (GRCm39) |
S1028P |
probably benign |
Het |
| Polb |
T |
C |
8: 23,143,107 (GRCm39) |
S30G |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,425,809 (GRCm39) |
I45F |
probably damaging |
Het |
| Tacc2 |
C |
T |
7: 130,345,328 (GRCm39) |
H2582Y |
probably damaging |
Het |
| Tmem176a |
A |
T |
6: 48,821,116 (GRCm39) |
|
probably null |
Het |
| Tnr |
A |
T |
1: 159,715,880 (GRCm39) |
T881S |
probably benign |
Het |
| Trp63 |
A |
T |
16: 25,686,969 (GRCm39) |
R394S |
probably damaging |
Het |
| Tsga8 |
A |
G |
X: 82,530,704 (GRCm39) |
L135P |
unknown |
Het |
| Ttn |
T |
C |
2: 76,645,042 (GRCm39) |
T12938A |
probably damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,149,061 (GRCm39) |
D104V |
possibly damaging |
Het |
| Usp28 |
T |
C |
9: 48,947,183 (GRCm39) |
S835P |
probably damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,371,219 (GRCm39) |
V609E |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,804,084 (GRCm39) |
S168G |
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 |
|
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 |
|
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'- TGCAAAGCACGCTAGCAGAG -3'
(R):5'- TATAGGTGTACGCGTCTTGC -3'
Sequencing Primer
(F):5'- TTGGGGATTTGCTCTCACAC -3'
(R):5'- GCGCACCTTCTTGCACAAATTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation