Incidental Mutation 'R2249:Slc17a6'
| ID |
240781 |
| 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 |
040249-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2249 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
51271754-51320867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 51317654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 429
(G429D)
|
| 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: G429D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
AA Change: G429D
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
G |
A |
15: 101,100,975 (GRCm39) |
R379Q |
probably null |
Het |
| Adam23 |
C |
T |
1: 63,574,335 (GRCm39) |
Q276* |
probably null |
Het |
| Apob |
A |
T |
12: 8,057,499 (GRCm39) |
S1961C |
probably damaging |
Het |
| Atxn7l1 |
C |
T |
12: 33,408,839 (GRCm39) |
P334S |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,917,827 (GRCm39) |
M258V |
possibly damaging |
Het |
| Cd34 |
A |
C |
1: 194,630,260 (GRCm39) |
T65P |
possibly damaging |
Het |
| Cog6 |
A |
G |
3: 52,907,900 (GRCm39) |
|
probably null |
Het |
| Cp |
T |
C |
3: 20,041,734 (GRCm39) |
M953T |
probably damaging |
Het |
| Cwc27 |
C |
T |
13: 104,768,130 (GRCm39) |
R455Q |
unknown |
Het |
| Dhx57 |
A |
T |
17: 80,588,663 (GRCm39) |
D63E |
probably damaging |
Het |
| Elapor1 |
A |
T |
3: 108,378,726 (GRCm39) |
Y409* |
probably null |
Het |
| Flt4 |
T |
A |
11: 49,536,786 (GRCm39) |
M1252K |
possibly damaging |
Het |
| Gfral |
C |
T |
9: 76,100,631 (GRCm39) |
C269Y |
probably damaging |
Het |
| Itih4 |
C |
T |
14: 30,621,351 (GRCm39) |
Q788* |
probably null |
Het |
| Kif18b |
A |
G |
11: 102,803,214 (GRCm39) |
S499P |
probably benign |
Het |
| Map1a |
G |
C |
2: 121,130,768 (GRCm39) |
R528P |
probably damaging |
Het |
| Map3k5 |
T |
C |
10: 20,003,443 (GRCm39) |
F1152L |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,599 (GRCm39) |
D160G |
probably benign |
Het |
| Mtcl2 |
A |
T |
2: 156,882,013 (GRCm39) |
C680S |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,847,469 (GRCm39) |
M616L |
probably benign |
Het |
| Ndst4 |
A |
T |
3: 125,231,823 (GRCm39) |
I131F |
probably benign |
Het |
| Neto1 |
G |
T |
18: 86,479,399 (GRCm39) |
A196S |
probably benign |
Het |
| Notum |
A |
G |
11: 120,545,237 (GRCm39) |
F441L |
probably benign |
Het |
| Nsmce4a |
A |
G |
7: 130,140,769 (GRCm39) |
I239T |
probably benign |
Het |
| Or51g1 |
A |
T |
7: 102,633,647 (GRCm39) |
N241K |
possibly damaging |
Het |
| Or52z14 |
T |
A |
7: 103,252,943 (GRCm39) |
D27E |
probably benign |
Het |
| Or5d35 |
A |
T |
2: 87,855,707 (GRCm39) |
I214F |
probably damaging |
Het |
| Or6s1 |
T |
A |
14: 51,307,870 (GRCm39) |
K327* |
probably null |
Het |
| Or6x1 |
A |
T |
9: 40,098,980 (GRCm39) |
T190S |
possibly damaging |
Het |
| Or8k40 |
A |
G |
2: 86,584,398 (GRCm39) |
M228T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,700,841 (GRCm39) |
V221D |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,808,545 (GRCm39) |
Y474C |
probably damaging |
Het |
| Ptk6 |
A |
C |
2: 180,838,173 (GRCm39) |
H363Q |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,342,948 (GRCm39) |
W187R |
probably damaging |
Het |
| Rbfox3 |
A |
T |
11: 118,394,564 (GRCm39) |
F132L |
probably damaging |
Het |
| Rcl1 |
A |
T |
19: 29,099,268 (GRCm39) |
I188F |
possibly damaging |
Het |
| Scfd1 |
T |
A |
12: 51,462,299 (GRCm39) |
S385T |
possibly damaging |
Het |
| Sema6d |
A |
G |
2: 124,501,508 (GRCm39) |
E483G |
possibly damaging |
Het |
| Semp2l2b |
T |
C |
10: 21,943,015 (GRCm39) |
I322V |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,388,890 (GRCm39) |
V372A |
probably benign |
Het |
| Slc22a5 |
A |
G |
11: 53,774,532 (GRCm39) |
V151A |
possibly damaging |
Het |
| Spidr |
T |
C |
16: 15,936,787 (GRCm39) |
D106G |
probably damaging |
Het |
| Tekt3 |
A |
T |
11: 62,974,778 (GRCm39) |
T366S |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,710,398 (GRCm39) |
M281T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,782,485 (GRCm39) |
V917A |
probably damaging |
Het |
| Tubgcp4 |
A |
T |
2: 121,014,110 (GRCm39) |
D221V |
possibly damaging |
Het |
| Ubr4 |
C |
T |
4: 139,176,232 (GRCm39) |
R3153W |
probably damaging |
Het |
| Vmn1r89 |
A |
C |
7: 12,954,187 (GRCm39) |
T308P |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,326 (GRCm39) |
I27T |
probably benign |
Het |
| Vps13c |
T |
G |
9: 67,895,335 (GRCm39) |
|
probably null |
Het |
| Zfp142 |
A |
G |
1: 74,606,191 (GRCm39) |
V1793A |
probably damaging |
Het |
| Zfp472 |
T |
A |
17: 33,197,109 (GRCm39) |
C395S |
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 |
|
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 |
|
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'- AGAGAATGTTTGCAGTGAGTCATG -3'
(R):5'- GCTACATCCCAGCTATAAGAGTG -3'
Sequencing Primer
(F):5'- AATGTTTGCAGTGAGTCATGTTAAG -3'
(R):5'- CCCAGCTATAAGAGTGAATCTTTGGC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation