Incidental Mutation 'R5301:Slc17a6'
| ID |
404247 |
| 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 |
042884-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5301 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
51271754-51320867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51308519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 281
(Y281C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032710]
[ENSMUST00000207945]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032710
AA Change: Y281C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
AA Change: Y281C
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208597
|
| Meta Mutation Damage Score |
0.7851 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
93% (52/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,896,502 (GRCm39) |
V578A |
probably damaging |
Het |
| Abcb11 |
T |
C |
2: 69,117,191 (GRCm39) |
I486V |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,536,207 (GRCm39) |
T1509I |
probably benign |
Het |
| Akr1c20 |
T |
A |
13: 4,573,279 (GRCm39) |
D12V |
probably damaging |
Het |
| Asb1 |
A |
G |
1: 91,482,475 (GRCm39) |
Y66C |
probably damaging |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Bcl10 |
A |
G |
3: 145,636,342 (GRCm39) |
D80G |
probably damaging |
Het |
| Bdnf |
T |
C |
2: 109,553,884 (GRCm39) |
V46A |
probably benign |
Het |
| Cyp11a1 |
A |
G |
9: 57,926,544 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,725,326 (GRCm39) |
S292P |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,071,952 (GRCm39) |
I85M |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,625,973 (GRCm39) |
D49G |
probably benign |
Het |
| Epcam |
T |
A |
17: 87,944,305 (GRCm39) |
L20Q |
possibly damaging |
Het |
| Ercc4 |
T |
C |
16: 12,948,550 (GRCm39) |
V589A |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,793,099 (GRCm39) |
K1034N |
possibly damaging |
Het |
| Fras1 |
C |
T |
5: 96,805,125 (GRCm39) |
L1256F |
possibly damaging |
Het |
| Gata5 |
T |
C |
2: 179,975,786 (GRCm39) |
Y126C |
probably damaging |
Het |
| Gja1 |
T |
C |
10: 56,264,475 (GRCm39) |
L278P |
probably damaging |
Het |
| Gm11596 |
C |
A |
11: 99,683,847 (GRCm39) |
R91L |
unknown |
Het |
| Gm29125 |
A |
T |
1: 80,362,154 (GRCm39) |
|
noncoding transcript |
Het |
| Hcrtr1 |
G |
T |
4: 130,031,463 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
G |
A |
1: 173,556,977 (GRCm39) |
S587L |
possibly damaging |
Het |
| Ino80d |
T |
C |
1: 63,113,578 (GRCm39) |
T291A |
probably benign |
Het |
| Itgb3 |
A |
G |
11: 104,524,480 (GRCm39) |
|
probably null |
Het |
| Kif26b |
A |
G |
1: 178,358,233 (GRCm39) |
S115G |
unknown |
Het |
| Klc3 |
T |
C |
7: 19,130,274 (GRCm39) |
Y301C |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Meioc |
A |
T |
11: 102,570,871 (GRCm39) |
R867S |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mthfd2 |
C |
A |
6: 83,287,465 (GRCm39) |
G200V |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,367,541 (GRCm39) |
I312T |
probably damaging |
Het |
| Nrp1 |
T |
G |
8: 129,160,678 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
G |
11: 59,026,234 (GRCm39) |
L323P |
probably damaging |
Het |
| Or11g1 |
T |
C |
14: 50,651,030 (GRCm39) |
S10P |
probably benign |
Het |
| Or1b1 |
C |
T |
2: 36,995,210 (GRCm39) |
V151M |
probably benign |
Het |
| Or9i14 |
G |
A |
19: 13,792,933 (GRCm39) |
T7I |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,544,967 (GRCm39) |
|
probably null |
Het |
| Ppp1r18 |
A |
G |
17: 36,179,237 (GRCm39) |
R371G |
probably benign |
Het |
| Prkar2b |
A |
C |
12: 32,025,927 (GRCm39) |
V31G |
probably damaging |
Het |
| Reg3b |
T |
A |
6: 78,348,243 (GRCm39) |
M19K |
probably damaging |
Het |
| Sec14l2 |
G |
A |
11: 4,068,727 (GRCm39) |
|
probably benign |
Het |
| Sgca |
C |
T |
11: 94,854,157 (GRCm39) |
R104Q |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,196,734 (GRCm39) |
V637A |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,002,963 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
T |
C |
17: 6,346,070 (GRCm39) |
I229T |
possibly damaging |
Het |
| Tmpo |
A |
T |
10: 90,985,650 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,555,384 (GRCm39) |
V280A |
probably benign |
Het |
| Vmn1r234 |
G |
T |
17: 21,449,589 (GRCm39) |
V168F |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,950 (GRCm39) |
I701N |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,297,848 (GRCm39) |
M238K |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,403,172 (GRCm39) |
T543A |
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 |
|
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'- GTGCCCACACCACATTAAATGG -3'
(R):5'- ATTATTCCCGGTGGAGGCTAGG -3'
Sequencing Primer
(F):5'- TGGCATGGTCTGGTACAT -3'
(R):5'- CGGTGGAGGCTAGGGAGAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation