Incidental Mutation 'R3972:Slc17a7'
| ID |
311021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc17a7
|
| Ensembl Gene |
ENSMUSG00000070570 |
| Gene Name |
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 |
| Synonyms |
2900052E22Rik, Vglut1 |
| MMRRC Submission |
040840-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.476)
|
| Stock # |
R3972 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44813373-44825566 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44819334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 137
(I137V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085374]
[ENSMUST00000209634]
|
| AlphaFold |
Q3TXX4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085374
AA Change: I137V
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000082489
Gene: ENSMUSG00000070570
AA Change: I137V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
68 |
453 |
9.3e-49 |
PFAM |
|
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
556 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197423
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209634
AA Change: I162V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211652
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are small and fail to thrive by 3-4 weeks of age. Abnormal excitatory post synaptic potential and currents. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
G |
17: 72,292,442 (GRCm39) |
D512A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,720,393 (GRCm39) |
F477S |
probably damaging |
Het |
| C7 |
C |
T |
15: 5,037,133 (GRCm39) |
V582I |
possibly damaging |
Het |
| Cldn20 |
A |
G |
17: 3,582,914 (GRCm39) |
N29S |
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,336,522 (GRCm39) |
A251T |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,685,943 (GRCm39) |
D131V |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,707,344 (GRCm39) |
K248R |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fgf1 |
T |
C |
18: 38,980,147 (GRCm39) |
T76A |
probably benign |
Het |
| Gucy2c |
C |
T |
6: 136,685,364 (GRCm39) |
R859K |
probably damaging |
Het |
| Irf2bp1 |
T |
A |
7: 18,739,369 (GRCm39) |
D336E |
possibly damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,513 (GRCm39) |
H158R |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,881,210 (GRCm39) |
C2814R |
possibly damaging |
Het |
| Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mrpl16 |
A |
G |
19: 11,750,239 (GRCm39) |
N41S |
probably benign |
Het |
| Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,194,991 (GRCm39) |
C29F |
probably benign |
Het |
| Or4d11 |
G |
T |
19: 12,013,383 (GRCm39) |
T241N |
probably damaging |
Het |
| Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
| Otp |
T |
G |
13: 95,019,692 (GRCm39) |
L181R |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,117,513 (GRCm39) |
T592A |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,111,739 (GRCm39) |
Y1579H |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,224 (GRCm39) |
V864A |
probably benign |
Het |
| Reln |
A |
T |
5: 22,183,999 (GRCm39) |
F1667I |
probably damaging |
Het |
| Serpinb10 |
T |
A |
1: 107,463,852 (GRCm39) |
F45I |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,248,649 (GRCm39) |
N422K |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,649,505 (GRCm39) |
E67D |
probably damaging |
Het |
| Tpcn1 |
C |
A |
5: 120,691,817 (GRCm39) |
|
probably null |
Het |
| Trav9-4 |
T |
C |
14: 53,913,877 (GRCm39) |
Y44H |
possibly damaging |
Het |
| Trmt1l |
A |
G |
1: 151,309,634 (GRCm39) |
N106D |
possibly damaging |
Het |
| Ttll12 |
A |
T |
15: 83,466,297 (GRCm39) |
L388Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubfd1 |
T |
G |
7: 121,666,656 (GRCm39) |
S51A |
probably benign |
Het |
| Uckl1 |
T |
C |
2: 181,216,256 (GRCm39) |
D148G |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,803 (GRCm39) |
L2571S |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,861,714 (GRCm39) |
V718A |
probably benign |
Het |
| Zfp266 |
A |
G |
9: 20,411,446 (GRCm39) |
S244P |
probably damaging |
Het |
| Zfp979 |
G |
A |
4: 147,702,876 (GRCm39) |
Q25* |
probably null |
Het |
|
| Other mutations in Slc17a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02208:Slc17a7
|
APN |
7 |
44,820,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02536:Slc17a7
|
APN |
7 |
44,820,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03057:Slc17a7
|
APN |
7 |
44,820,363 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0081:Slc17a7
|
UTSW |
7 |
44,824,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1188:Slc17a7
|
UTSW |
7 |
44,819,311 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1713:Slc17a7
|
UTSW |
7 |
44,819,728 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2512:Slc17a7
|
UTSW |
7 |
44,818,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3915:Slc17a7
|
UTSW |
7 |
44,818,144 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4727:Slc17a7
|
UTSW |
7 |
44,822,358 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4761:Slc17a7
|
UTSW |
7 |
44,820,408 (GRCm39) |
missense |
probably benign |
|
|
R6047:Slc17a7
|
UTSW |
7 |
44,822,830 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6113:Slc17a7
|
UTSW |
7 |
44,824,175 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6407:Slc17a7
|
UTSW |
7 |
44,819,350 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6792:Slc17a7
|
UTSW |
7 |
44,824,299 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7404:Slc17a7
|
UTSW |
7 |
44,822,354 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8001:Slc17a7
|
UTSW |
7 |
44,818,212 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8152:Slc17a7
|
UTSW |
7 |
44,819,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Slc17a7
|
UTSW |
7 |
44,824,356 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9150:Slc17a7
|
UTSW |
7 |
44,820,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9486:Slc17a7
|
UTSW |
7 |
44,821,606 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0067:Slc17a7
|
UTSW |
7 |
44,819,696 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Slc17a7
|
UTSW |
7 |
44,822,351 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCACTGAGCTCTGATTGGTAG -3'
(R):5'- TGTATAACAGAACTAGAGGCTGCC -3'
Sequencing Primer
(F):5'- CCACTGAGCTCTGATTGGTAGATTTG -3'
(R):5'- AGGCTGCCTCCAAGATATGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation