Mutagenetix > Incidental Mutation

Incidental Mutation 'R0081:Slc17a7'

19675

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

038368-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.552) question?

Stock #

R0081 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

44813373-44825566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44824371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 554 (E554G)

Ref Sequence

ENSEMBL: ENSMUSP00000147661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085374] [ENSMUST00000179443] [ENSMUST00000209634] [ENSMUST00000211004]

AlphaFold

Q3TXX4

Predicted Effect

probably benign
Transcript: ENSMUST00000085374
AA Change: E529G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000082489
Gene: ENSMUSG00000070570
AA Change: E529G

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

probably benign
Transcript: ENSMUST00000179443

SMART Domains

Protein: ENSMUSP00000135927
Gene: ENSMUSG00000095276

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	58	77	N/A	INTRINSIC
low complexity region	142	161	N/A	INTRINSIC
SCOP:d1fftc1	399	431	5e-4	SMART
low complexity region	470	488	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197423

Predicted Effect

probably benign
Transcript: ENSMUST00000209634
AA Change: E554G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210540

Predicted Effect

probably benign
Transcript: ENSMUST00000211004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211652

Meta Mutation Damage Score

0.0821

Coding Region Coverage

1x: 99.0%
3x: 97.2%
10x: 88.5%
20x: 63.6%

Validation Efficiency

94% (159/169)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 25,271,703 (GRCm39)	D485G	probably damaging	Het
Adamts19	T	C	18: 59,036,137 (GRCm39)		probably null	Het
Adgrd1	A	T	5: 129,255,146 (GRCm39)	I598F	probably damaging	Het
Adh5	A	G	3: 138,157,174 (GRCm39)	D245G	probably benign	Het
Adra2b	T	C	2: 127,206,212 (GRCm39)	V238A	probably benign	Het
Ank1	G	A	8: 23,606,258 (GRCm39)	V1188I	possibly damaging	Het
Asap1	C	T	15: 63,971,413 (GRCm39)	G905D	probably damaging	Het
AW554918	T	C	18: 25,477,959 (GRCm39)	V428A	probably benign	Het
Birc6	T	A	17: 74,950,436 (GRCm39)	S3226T	probably benign	Het
Cdh17	A	T	4: 11,785,280 (GRCm39)		probably benign	Het
Cyfip2	A	T	11: 46,144,825 (GRCm39)	Y676*	probably null	Het
Dcaf17	T	A	2: 70,908,812 (GRCm39)		probably benign	Het
Dclre1a	A	G	19: 56,531,139 (GRCm39)	F736L	probably damaging	Het
Ddx41	A	T	13: 55,683,193 (GRCm39)	H171Q	possibly damaging	Het
Dennd5b	G	T	6: 148,895,257 (GRCm39)	Q1258K	probably benign	Het
Dock10	T	C	1: 80,584,295 (GRCm39)	D137G	probably damaging	Het
Dpyd	G	A	3: 118,737,904 (GRCm39)	V482I	probably benign	Het
Erich6	A	T	3: 58,543,547 (GRCm39)		probably benign	Het
Fam193b	A	G	13: 55,702,024 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,405,643 (GRCm39)		probably benign	Het
Frmd4a	T	C	2: 4,577,252 (GRCm39)		probably null	Het
Gas2l2	A	G	11: 83,313,693 (GRCm39)	S540P	possibly damaging	Het
Glis2	T	C	16: 4,431,517 (GRCm39)	V348A	probably benign	Het
Gm14443	C	A	2: 175,011,729 (GRCm39)	G239V	probably damaging	Het
Gpr158	T	C	2: 21,831,528 (GRCm39)	V876A	probably damaging	Het
H1f8	A	G	6: 115,926,942 (GRCm39)	E273G	probably benign	Het
Hadh	C	T	3: 131,029,285 (GRCm39)	D245N	probably damaging	Het
Hk2	A	T	6: 82,711,957 (GRCm39)		probably benign	Het
Ice1	A	T	13: 70,767,163 (GRCm39)	Y108*	probably null	Het
Il10ra	T	G	9: 45,167,247 (GRCm39)	M435L	probably benign	Het
Inpp5k	GT	G	11: 75,521,973 (GRCm39)		probably null	Het
Kank4	G	T	4: 98,666,567 (GRCm39)	P627T	probably benign	Het
Kif16b	A	G	2: 142,549,346 (GRCm39)		probably benign	Het
Lipn	A	G	19: 34,054,376 (GRCm39)	I205V	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Myh1	T	C	11: 67,106,683 (GRCm39)	M1255T	probably benign	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Myo1d	T	G	11: 80,448,349 (GRCm39)	K925N	probably benign	Het
Myoz1	T	A	14: 20,699,622 (GRCm39)	M239L	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nf1	C	A	11: 79,344,805 (GRCm39)		probably benign	Het
Npepl1	C	T	2: 173,957,879 (GRCm39)	P239S	probably damaging	Het
Olfml1	A	G	7: 107,170,506 (GRCm39)	K131R	probably benign	Het
Or12k5	G	A	2: 36,895,462 (GRCm39)	L55F	probably damaging	Het
Or1e29	A	G	11: 73,667,935 (GRCm39)	F73L	possibly damaging	Het
Or1j15	T	A	2: 36,458,893 (GRCm39)	Y94*	probably null	Het
Or1j20	T	C	2: 36,760,022 (GRCm39)	L148S	possibly damaging	Het
Or4c10	T	A	2: 89,760,423 (GRCm39)	I90K	possibly damaging	Het
Or4f7	A	C	2: 111,644,213 (GRCm39)	I286S	probably damaging	Het
Or5p52	C	T	7: 107,502,212 (GRCm39)	T96I	probably benign	Het
Or6c202	C	T	10: 128,996,707 (GRCm39)	D49N	possibly damaging	Het
Pde7a	T	C	3: 19,295,697 (GRCm39)		probably benign	Het
Pik3c2g	T	C	6: 139,903,519 (GRCm39)	C591R	probably benign	Het
Pkn2	T	G	3: 142,559,343 (GRCm39)	K61Q	probably damaging	Het
Ppfia1	C	A	7: 144,058,711 (GRCm39)	G722C	probably damaging	Het
Ppp1cb	T	C	5: 32,644,958 (GRCm39)	V263A	probably damaging	Het
Rab11fip2	A	T	19: 59,895,567 (GRCm39)	N440K	possibly damaging	Het
Rbm34	T	A	8: 127,676,234 (GRCm39)	K340N	probably damaging	Het
Samd3	T	C	10: 26,147,399 (GRCm39)		probably benign	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sigirr	T	C	7: 140,671,285 (GRCm39)	D399G	probably damaging	Het
Smc3	A	G	19: 53,589,993 (GRCm39)		probably benign	Het
Tdrd1	T	C	19: 56,819,703 (GRCm39)	Y68H	probably benign	Het
Tespa1	T	A	10: 130,196,719 (GRCm39)	L219Q	probably damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Ttc38	A	G	15: 85,740,673 (GRCm39)	S436G	probably benign	Het
Ttn	T	A	2: 76,581,423 (GRCm39)	I23157F	probably damaging	Het
Ubxn2b	T	A	4: 6,203,875 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r72	T	C	7: 85,401,044 (GRCm39)	E125G	probably benign	Het
Vmn2r78	A	T	7: 86,572,235 (GRCm39)	D532V	probably benign	Het
Vwa8	C	A	14: 79,320,222 (GRCm39)	L1078I	probably benign	Het
Vwce	A	T	19: 10,641,453 (GRCm39)		probably null	Het
Zpr1	A	G	9: 46,190,995 (GRCm39)	D300G	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
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
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'- CACTACGGCGGTGTCATCTTCTATG -3'
(R):5'- AGATTTGAGCCCACACAGGCAG -3'

Sequencing Primer
(F):5'- CTATGGGGTCTTTGCTTCGG -3'
(R):5'- AGGACTTGCATCTTAAGCCTGAG -3'

Posted On

2013-04-11