Incidental Mutation 'R3915:Slc17a7'
ID |
309594 |
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 |
040913-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.476)
|
Stock # |
R3915 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44813373-44825566 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44818144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 23
(L23Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147661
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085374]
[ENSMUST00000209634]
|
AlphaFold |
Q3TXX4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085374
AA Change: L23Q
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000082489 Gene: ENSMUSG00000070570 AA Change: L23Q
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 damaging
Transcript: ENSMUST00000209634
AA Change: L23Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210498
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210540
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211652
|
Meta Mutation Damage Score |
0.0727 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
98% (43/44) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700109H08Rik |
G |
A |
5: 3,627,248 (GRCm39) |
V75I |
possibly damaging |
Het |
AA986860 |
A |
G |
1: 130,670,344 (GRCm39) |
K189E |
probably benign |
Het |
Abcf1 |
C |
T |
17: 36,270,402 (GRCm39) |
R596H |
possibly damaging |
Het |
Abtb3 |
C |
A |
10: 85,468,134 (GRCm39) |
H810N |
probably damaging |
Het |
Axl |
T |
C |
7: 25,460,169 (GRCm39) |
|
probably benign |
Het |
Birc6 |
A |
G |
17: 74,886,603 (GRCm39) |
K644E |
probably benign |
Het |
Btnl7-ps |
T |
A |
17: 34,760,489 (GRCm39) |
|
noncoding transcript |
Het |
Car8 |
A |
T |
4: 8,184,576 (GRCm39) |
|
probably benign |
Het |
Ccdc62 |
C |
T |
5: 124,092,778 (GRCm39) |
R588C |
probably damaging |
Het |
Clasp2 |
T |
G |
9: 113,737,805 (GRCm39) |
S374A |
probably damaging |
Het |
Ctnnb1 |
A |
G |
9: 120,784,717 (GRCm39) |
H503R |
probably benign |
Het |
Cwf19l2 |
A |
G |
9: 3,456,776 (GRCm39) |
H703R |
probably damaging |
Het |
Efcab7 |
A |
T |
4: 99,735,375 (GRCm39) |
Q133L |
probably damaging |
Het |
Ehmt2 |
T |
C |
17: 35,122,443 (GRCm39) |
S280P |
probably damaging |
Het |
Eif4a3l1 |
A |
T |
6: 136,306,420 (GRCm39) |
T294S |
probably benign |
Het |
Eomes |
A |
G |
9: 118,310,341 (GRCm39) |
M351V |
probably benign |
Het |
Ets2 |
G |
A |
16: 95,520,037 (GRCm39) |
R421H |
probably damaging |
Het |
Fam222b |
C |
G |
11: 78,045,756 (GRCm39) |
P439R |
probably benign |
Het |
Gbp11 |
T |
A |
5: 105,478,978 (GRCm39) |
K153N |
probably damaging |
Het |
Golim4 |
T |
C |
3: 75,810,634 (GRCm39) |
T174A |
probably damaging |
Het |
Grid1 |
A |
G |
14: 35,242,684 (GRCm39) |
Y679C |
probably damaging |
Het |
Gvin-ps5 |
A |
G |
7: 105,929,445 (GRCm39) |
S151P |
probably benign |
Het |
Ikzf3 |
T |
C |
11: 98,381,412 (GRCm39) |
D56G |
probably damaging |
Het |
Kcnj16 |
A |
G |
11: 110,916,382 (GRCm39) |
D348G |
probably benign |
Het |
Kidins220 |
T |
C |
12: 25,103,957 (GRCm39) |
L1319P |
possibly damaging |
Het |
Lrp1b |
T |
A |
2: 41,339,248 (GRCm39) |
D751V |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,410,551 (GRCm39) |
C440R |
probably benign |
Het |
Mbd2 |
T |
C |
18: 70,755,680 (GRCm39) |
V382A |
probably benign |
Het |
Or13a17 |
T |
A |
7: 140,270,888 (GRCm39) |
D23E |
probably benign |
Het |
Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
Or6c68 |
G |
A |
10: 129,158,178 (GRCm39) |
A229T |
probably benign |
Het |
Pgs1 |
T |
G |
11: 117,910,472 (GRCm39) |
S528A |
probably benign |
Het |
Pitpnm3 |
T |
C |
11: 72,003,110 (GRCm39) |
T67A |
probably damaging |
Het |
Pnliprp2 |
T |
G |
19: 58,748,794 (GRCm39) |
V33G |
probably damaging |
Het |
Ptn |
T |
C |
6: 36,720,282 (GRCm39) |
N90S |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,397,475 (GRCm39) |
|
probably benign |
Het |
Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
Rasgrp1 |
G |
A |
2: 117,119,122 (GRCm39) |
S505F |
probably damaging |
Het |
Sesn1 |
G |
A |
10: 41,770,886 (GRCm39) |
R139H |
probably benign |
Het |
Slc30a10 |
G |
T |
1: 185,187,333 (GRCm39) |
E25* |
probably null |
Het |
Smco1 |
A |
G |
16: 32,092,583 (GRCm39) |
I85V |
probably benign |
Het |
Vmn1r76 |
A |
T |
7: 11,664,496 (GRCm39) |
S239R |
probably benign |
Het |
Zc3h7a |
A |
T |
16: 10,974,074 (GRCm39) |
V237D |
possibly damaging |
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 |
R3972:Slc17a7
|
UTSW |
7 |
44,819,334 (GRCm39) |
missense |
possibly damaging |
0.46 |
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'- GACTGGAAGGAATTCGGACTC -3'
(R):5'- AGCGGATGCCAAAGCTGATAC -3'
Sequencing Primer
(F):5'- CTCAGATTCTGGGTCTGGCAAAAG -3'
(R):5'- GGATGCCAAAGCTGATACAGAAACC -3'
|
Posted On |
2015-04-17 |