Mutagenetix > Incidental Mutation

Incidental Mutation 'R9150:Slc17a7'

694963

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

068938-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.552) question?

Stock #

R9150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44813373-44825566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44820167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 241 (Y241D)

Ref Sequence

ENSEMBL: ENSMUSP00000082489 (fasta)

Gene Model

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

AlphaFold

Q3TXX4

Predicted Effect

probably damaging
Transcript: ENSMUST00000085374
AA Change: Y241D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000082489
Gene: ENSMUSG00000070570
AA Change: Y241D

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

possibly damaging
Transcript: ENSMUST00000209634
AA Change: Y266D

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	CTCCGGTGAGTGCCTCATCC	CTCC	5: 137,553,354 (GRCm39)		probably null	Het
Ampd1	A	T	3: 102,988,359 (GRCm39)	I101F	possibly damaging	Het
Arhgap11a	A	G	2: 113,673,614 (GRCm39)	V92A	possibly damaging	Het
Arih1	C	A	9: 59,344,069 (GRCm39)	L189F	possibly damaging	Het
B4galt3	A	G	1: 171,103,899 (GRCm39)	R379G	probably benign	Het
Capn12	A	G	7: 28,590,378 (GRCm39)	N642D	probably benign	Het
Cdc42ep3	T	C	17: 79,642,299 (GRCm39)	H207R	probably benign	Het
Dcps	A	T	9: 35,035,938 (GRCm39)	L316H	probably damaging	Het
Dmgdh	A	G	13: 93,825,103 (GRCm39)	Y142C	probably damaging	Het
Elmo2	A	G	2: 165,140,607 (GRCm39)	V300A	probably damaging	Het
Eml6	A	T	11: 29,755,791 (GRCm39)	V821E	probably benign	Het
Fam181a	A	T	12: 103,282,139 (GRCm39)	N15Y	probably damaging	Het
Gm26657	G	T	4: 56,740,835 (GRCm39)	E7*	probably null	Het
Gm8267	A	T	14: 44,955,362 (GRCm39)	S220T	probably benign	Het
Gpld1	A	T	13: 25,146,305 (GRCm39)	Y183F	probably damaging	Het
Gpr158	G	A	2: 21,831,251 (GRCm39)	G784R	probably benign	Het
Grm2	A	G	9: 106,524,657 (GRCm39)	L215P		Het
Gtpbp1	A	G	15: 79,592,165 (GRCm39)	D252G	probably damaging	Het
Heatr5b	A	G	17: 79,103,448 (GRCm39)	V1135A	probably benign	Het
Irag1	T	C	7: 110,498,205 (GRCm39)	T397A	probably benign	Het
Lrrc8e	A	C	8: 4,286,030 (GRCm39)	K752Q	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mapre2	A	G	18: 23,991,208 (GRCm39)	T201A	probably benign	Het
Mcm9	A	T	10: 53,502,110 (GRCm39)	N85K		Het
Mdga1	T	C	17: 30,057,420 (GRCm39)	T92A	probably damaging	Het
Nemf	A	C	12: 69,387,820 (GRCm39)	D421E	probably benign	Het
Oga	A	T	19: 45,771,421 (GRCm39)	V50E	probably benign	Het
Or13g1	G	C	7: 85,955,942 (GRCm39)	F126L	probably damaging	Het
Or5k14	G	T	16: 58,693,005 (GRCm39)	C169*	probably null	Het
Or5m3	A	T	2: 85,838,626 (GRCm39)	K169*	probably null	Het
Or8k53	A	T	2: 86,177,336 (GRCm39)	M258K	probably damaging	Het
Pcdhga5	A	C	18: 37,827,933 (GRCm39)	N127T	probably damaging	Het
Phyhipl	A	T	10: 70,404,887 (GRCm39)	V107E	probably damaging	Het
Pkd1l1	G	A	11: 8,786,256 (GRCm39)	R2383C		Het
Ppp1r16a	G	A	15: 76,575,054 (GRCm39)		probably benign	Het
Pramel20	A	G	4: 143,298,531 (GRCm39)	Y158C	probably benign	Het
Rnf41	T	C	10: 128,272,399 (GRCm39)	V142A		Het
Sgcd	C	T	11: 46,870,170 (GRCm39)	V264I	probably damaging	Het
Six2	A	G	17: 85,992,763 (GRCm39)	S247P	probably benign	Het
Slc30a5	T	A	13: 100,939,915 (GRCm39)	K724*	probably null	Het
Slitrk1	T	A	14: 109,149,101 (GRCm39)	I537F	possibly damaging	Het
Sp140l2	T	A	1: 85,091,359 (GRCm39)	Q33L	probably damaging	Het
Spen	C	T	4: 141,244,468 (GRCm39)	R189Q	unknown	Het
Srd5a3	T	A	5: 76,297,615 (GRCm39)	L139Q	probably damaging	Het
Tgfbrap1	A	T	1: 43,114,985 (GRCm39)	Y38*	probably null	Het
Tln2	A	T	9: 67,128,778 (GRCm39)	M1437K	probably damaging	Het
Tmem87b	T	C	2: 128,687,401 (GRCm39)	I467T	probably damaging	Het
Tnfrsf21	T	A	17: 43,398,691 (GRCm39)	I599N	probably damaging	Het
Trmt112	T	A	19: 6,887,620 (GRCm39)	L23Q	probably damaging	Het
Tsc22d1	T	A	14: 76,654,056 (GRCm39)	N178K	probably damaging	Het
Ttc23	A	G	7: 67,375,850 (GRCm39)	Y476C	probably damaging	Het
Twf1	A	T	15: 94,484,274 (GRCm39)	W83R	probably damaging	Het
Vmn2r14	T	A	5: 109,367,783 (GRCm39)	H403L	probably damaging	Het
Wiz	A	T	17: 32,586,809 (GRCm39)	I167N	probably benign	Het
Zdhhc22	G	A	12: 87,035,192 (GRCm39)	P87S	probably benign	Het
Zfp618	C	T	4: 63,039,603 (GRCm39)	Q401*	probably null	Het
Zfp715	T	A	7: 42,948,713 (GRCm39)	I416F	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
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
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'- TCTCAATGTAGGTGCAGCAG -3'
(R):5'- ATGGCATCCTCAATGTATTTGCG -3'

Sequencing Primer
(F):5'- CTCAATGTAGGTGCAGCAGAGATTTC -3'
(R):5'- ACATCCAGACTTGCTCAG -3'

Posted On

2022-01-20