Incidental Mutation 'R6407:Slc17a7'
| ID |
514491 |
| 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 |
044552-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.552)
|
| Stock # |
R6407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44813373-44825566 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44819350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 167
(A167V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147661
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085374]
[ENSMUST00000209634]
|
| AlphaFold |
Q3TXX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085374
AA Change: A142V
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000082489
Gene: ENSMUSG00000070570
AA Change: A142V
| 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: A167V
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211652
|
| Meta Mutation Damage Score |
0.2617 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
T |
C |
18: 65,422,809 (GRCm39) |
Y1963C |
probably benign |
Het |
| Bptf |
T |
A |
11: 107,001,952 (GRCm39) |
N387Y |
probably damaging |
Het |
| C1ql2 |
T |
C |
1: 120,269,340 (GRCm39) |
L165P |
probably damaging |
Het |
| Col5a2 |
C |
A |
1: 45,415,938 (GRCm39) |
C1403F |
probably damaging |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Htr3a |
G |
T |
9: 48,812,355 (GRCm39) |
Y250* |
probably null |
Het |
| Ighg2c |
T |
C |
12: 113,252,271 (GRCm39) |
K94E |
unknown |
Het |
| Ighg3 |
T |
C |
12: 113,323,770 (GRCm39) |
N206S |
unknown |
Het |
| Il36rn |
A |
G |
2: 24,171,365 (GRCm39) |
Y151C |
probably damaging |
Het |
| Kif22 |
G |
A |
7: 126,632,375 (GRCm39) |
R312C |
probably damaging |
Het |
| Lap3 |
T |
A |
5: 45,669,267 (GRCm39) |
V472E |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,234,772 (GRCm39) |
T762A |
probably benign |
Het |
| Mfsd12 |
T |
C |
10: 81,198,067 (GRCm39) |
|
probably null |
Het |
| Mrpl39 |
T |
C |
16: 84,529,273 (GRCm39) |
K123R |
probably benign |
Het |
| Mup8 |
T |
A |
4: 60,220,394 (GRCm39) |
T113S |
possibly damaging |
Het |
| Nhp2 |
T |
C |
11: 51,510,730 (GRCm39) |
V29A |
probably benign |
Het |
| Or14a260 |
T |
C |
7: 85,985,277 (GRCm39) |
E109G |
possibly damaging |
Het |
| Pex3 |
T |
C |
10: 13,422,112 (GRCm39) |
R63G |
probably damaging |
Het |
| Pfkl |
A |
G |
10: 77,824,507 (GRCm39) |
|
probably null |
Het |
| Rims2 |
T |
C |
15: 39,315,724 (GRCm39) |
S617P |
probably damaging |
Het |
| Rnf223 |
A |
T |
4: 156,216,816 (GRCm39) |
T64S |
probably damaging |
Het |
| Rrp12 |
C |
T |
19: 41,872,181 (GRCm39) |
V432M |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,742,528 (GRCm39) |
V100A |
probably benign |
Het |
| Slc38a6 |
T |
C |
12: 73,356,949 (GRCm39) |
F115S |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,129,645 (GRCm39) |
S1122P |
probably benign |
Het |
| Spdye4a |
T |
C |
5: 143,211,454 (GRCm39) |
T37A |
probably benign |
Het |
| Sphk2 |
T |
C |
7: 45,362,024 (GRCm39) |
T138A |
possibly damaging |
Het |
| Srgap3 |
T |
C |
6: 112,699,967 (GRCm39) |
S1004G |
probably damaging |
Het |
| Sult1a1 |
T |
C |
7: 126,272,356 (GRCm39) |
|
probably null |
Het |
| Tmem212 |
A |
G |
3: 27,938,988 (GRCm39) |
V166A |
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,084,952 (GRCm39) |
L317P |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,722,467 (GRCm39) |
T38S |
probably benign |
Het |
| Tshz1 |
C |
A |
18: 84,034,091 (GRCm39) |
V106F |
possibly damaging |
Het |
| Tut4 |
G |
T |
4: 108,415,979 (GRCm39) |
E1648D |
probably damaging |
Het |
| Yap1 |
A |
G |
9: 7,962,373 (GRCm39) |
M225T |
possibly damaging |
Het |
| Zfp74 |
T |
C |
7: 29,635,048 (GRCm39) |
E220G |
probably 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 |
|
R3915:Slc17a7
|
UTSW |
7 |
44,818,144 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- AGGAGCTAAGTCTATGGGTGC -3'
(R):5'- AGCCATGCCAGTTATAGTGAGG -3'
Sequencing Primer
(F):5'- AGCTAAGTCTATGGGTGCTGATTG -3'
(R):5'- CCATGCCAGTTATAGTGAGGTGTTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation