Incidental Mutation 'R5765:Slc17a6'
| ID |
446228 |
| 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 |
043366-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5765 (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 51275249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 103
(T103A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146364
(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: T103A
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
AA Change: T103A
| 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 |
possibly damaging
Transcript: ENSMUST00000207945
AA Change: T103A
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208597
|
| Meta Mutation Damage Score |
0.2617 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
94% (51/54) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
T |
11: 65,044,066 (GRCm39) |
|
probably benign |
Het |
| Abcf2 |
T |
C |
5: 24,778,421 (GRCm39) |
R246G |
probably damaging |
Het |
| Adamts19 |
G |
T |
18: 59,185,654 (GRCm39) |
C1176F |
probably damaging |
Het |
| Adh7 |
G |
A |
3: 137,932,090 (GRCm39) |
V235I |
probably benign |
Het |
| Aoc1l1 |
C |
T |
6: 48,955,471 (GRCm39) |
P694S |
probably damaging |
Het |
| Caprin2 |
G |
C |
6: 148,744,666 (GRCm39) |
P701A |
probably damaging |
Het |
| Casp7 |
T |
C |
19: 56,422,315 (GRCm39) |
V110A |
possibly damaging |
Het |
| Cd1d2 |
A |
T |
3: 86,894,549 (GRCm39) |
M106L |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,506,749 (GRCm39) |
|
probably benign |
Het |
| Cpm |
A |
G |
10: 117,507,638 (GRCm39) |
I252V |
probably benign |
Het |
| Dnaaf2 |
A |
C |
12: 69,239,627 (GRCm39) |
I631M |
probably damaging |
Het |
| Fads2b |
T |
G |
2: 85,314,538 (GRCm39) |
|
probably null |
Het |
| Fam117b |
A |
G |
1: 60,009,631 (GRCm39) |
|
probably null |
Het |
| Fbxw22 |
T |
C |
9: 109,214,064 (GRCm39) |
M251V |
probably benign |
Het |
| Fignl1 |
T |
C |
11: 11,752,011 (GRCm39) |
|
probably null |
Het |
| Foxp1 |
G |
A |
6: 98,992,423 (GRCm39) |
L156F |
probably damaging |
Het |
| Gdap1 |
A |
T |
1: 17,231,650 (GRCm39) |
M332L |
probably benign |
Het |
| H2-M3 |
T |
C |
17: 37,583,334 (GRCm39) |
F265S |
probably damaging |
Het |
| Il1rl1 |
C |
T |
1: 40,501,103 (GRCm39) |
A493V |
probably benign |
Het |
| Iqce |
A |
G |
5: 140,651,895 (GRCm39) |
S359P |
probably damaging |
Het |
| Kif2b |
C |
T |
11: 91,468,068 (GRCm39) |
E72K |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,268,340 (GRCm39) |
S188P |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,866,707 (GRCm39) |
L587Q |
probably damaging |
Het |
| Mocs2 |
A |
G |
13: 114,962,692 (GRCm39) |
|
probably null |
Het |
| Mtnr1b |
T |
C |
9: 15,774,459 (GRCm39) |
Y200C |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,702,138 (GRCm39) |
V458I |
possibly damaging |
Het |
| Nbea |
C |
T |
3: 55,912,719 (GRCm39) |
V1023I |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,331,006 (GRCm39) |
V2205D |
probably damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,434,226 (GRCm39) |
D262G |
probably damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,346,085 (GRCm39) |
Y169H |
probably damaging |
Het |
| Pcdhac1 |
A |
T |
18: 37,223,372 (GRCm39) |
R62* |
probably null |
Het |
| Pcdhga1 |
A |
G |
18: 37,796,714 (GRCm39) |
T573A |
probably benign |
Het |
| Plin4 |
C |
T |
17: 56,409,470 (GRCm39) |
C1276Y |
possibly damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,645,207 (GRCm39) |
R220L |
possibly damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,000,235 (GRCm39) |
V775G |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Spock1 |
A |
T |
13: 57,577,217 (GRCm39) |
L404Q |
probably benign |
Het |
| Stradb |
C |
A |
1: 59,031,903 (GRCm39) |
H272N |
probably benign |
Het |
| Strn3 |
A |
G |
12: 51,680,410 (GRCm39) |
S397P |
probably benign |
Het |
| Synpo2l |
C |
T |
14: 20,716,198 (GRCm39) |
R126H |
possibly damaging |
Het |
| Tas2r104 |
A |
G |
6: 131,662,236 (GRCm39) |
Y158H |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,438,771 (GRCm39) |
I29N |
possibly damaging |
Het |
| Tnpo1 |
G |
A |
13: 98,996,349 (GRCm39) |
T484M |
probably benign |
Het |
| Tsc22d4 |
A |
G |
5: 137,756,805 (GRCm39) |
I78V |
probably benign |
Het |
| Ugt2b1 |
T |
C |
5: 87,067,265 (GRCm39) |
Y386C |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,954 (GRCm39) |
V26A |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,620,378 (GRCm39) |
C704Y |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,167,442 (GRCm39) |
Y565* |
probably null |
Het |
| Zfand2b |
T |
A |
1: 75,147,171 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
C |
T |
11: 72,712,763 (GRCm39) |
Q228* |
probably null |
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 |
|
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'- CTTAATCCGACACAGGGTGC -3'
(R):5'- AATTGCACTCTGGTTGTCCG -3'
Sequencing Primer
(F):5'- CGAGAGACCATCGAGCTGAC -3'
(R):5'- TGTCCGATCTAGGATGACAGTCC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation