Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03057:Slc17a7'

409264

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc17a7

Ensembl Gene

ENSMUSG00000070570

Gene Name

solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7

Synonyms

2900052E22Rik, Vglut1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.552) question?

Stock #

IGL03057

Quality Score

Status

Chromosome

Chromosomal Location

44813373-44825566 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44820363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 273 (Y273H)

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: Y273H

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082489
Gene: ENSMUSG00000070570
AA Change: Y273H

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

possibly damaging
Transcript: ENSMUST00000209634
AA Change: Y298H

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211652

Coding Region Coverage

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,488,754 (GRCm39)	A1295V	possibly damaging	Het
Adgre4	T	C	17: 56,106,602 (GRCm39)		probably benign	Het
Atp8b2	A	T	3: 89,851,493 (GRCm39)	Y901N	probably damaging	Het
Bud31	A	G	5: 145,083,378 (GRCm39)	T74A	probably benign	Het
C4b	C	A	17: 34,956,738 (GRCm39)		probably benign	Het
Ccdc92	G	A	5: 124,912,753 (GRCm39)	Q259*	probably null	Het
Ccn4	T	C	15: 66,763,489 (GRCm39)		probably benign	Het
Chfr	C	A	5: 110,291,475 (GRCm39)	Q98K	probably benign	Het
Ciita	T	A	16: 10,338,823 (GRCm39)		probably benign	Het
Cnbd2	A	T	2: 156,209,592 (GRCm39)	I512F	possibly damaging	Het
Cpa2	A	G	6: 30,557,726 (GRCm39)	Y346C	probably damaging	Het
Cpxm1	A	G	2: 130,235,109 (GRCm39)	L570P	probably damaging	Het
Cylc1	G	A	X: 110,166,370 (GRCm39)	G217D	unknown	Het
Dennd2a	T	C	6: 39,485,182 (GRCm39)	I366V	probably damaging	Het
Dis3	A	T	14: 99,327,426 (GRCm39)	M359K	possibly damaging	Het
Dock10	T	C	1: 80,545,088 (GRCm39)	N848S	probably damaging	Het
Dyrk3	C	T	1: 131,056,815 (GRCm39)	V453I	probably benign	Het
Ercc5	A	G	1: 44,206,161 (GRCm39)	E358G	probably damaging	Het
Fam167b	C	A	4: 129,471,960 (GRCm39)	C70F	possibly damaging	Het
Flt1	G	T	5: 147,618,734 (GRCm39)	Y200*	probably null	Het
Garin4	A	T	1: 190,895,141 (GRCm39)	S501T	probably benign	Het
Ggh	T	C	4: 20,065,770 (GRCm39)	V288A	probably benign	Het
Glb1l2	T	C	9: 26,717,586 (GRCm39)		probably benign	Het
Gm28042	A	G	2: 119,862,637 (GRCm39)	Y302C	probably damaging	Het
Gsta2	A	G	9: 78,241,192 (GRCm39)		probably benign	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Irs4	A	G	X: 140,505,524 (GRCm39)	S891P	unknown	Het
Kcmf1	G	T	6: 72,820,010 (GRCm39)	R330S	probably benign	Het
Kif26a	G	T	12: 112,142,208 (GRCm39)	E821*	probably null	Het
L3mbtl1	A	G	2: 162,809,303 (GRCm39)	E670G	probably damaging	Het
Met	A	T	6: 17,558,765 (GRCm39)	D1131V	probably damaging	Het
Neo1	T	C	9: 58,785,342 (GRCm39)	E1428G	probably damaging	Het
Odf2	A	G	2: 29,813,657 (GRCm39)		probably benign	Het
Ogfod1	T	A	8: 94,782,766 (GRCm39)	L294H	possibly damaging	Het
Or8d1b	G	T	9: 38,887,514 (GRCm39)	V181F	probably benign	Het
Pcdhb20	A	T	18: 37,637,851 (GRCm39)	I126L	possibly damaging	Het
Pcdhb9	A	T	18: 37,534,330 (GRCm39)	Q108L	probably benign	Het
Prdm10	G	T	9: 31,260,481 (GRCm39)	R645L	probably damaging	Het
Psmb11	T	A	14: 54,863,236 (GRCm39)	C151*	probably null	Het
Reep1	T	A	6: 71,784,765 (GRCm39)		probably benign	Het
Reg3a	G	A	6: 78,358,939 (GRCm39)	A46T	possibly damaging	Het
Rnf213	T	A	11: 119,331,913 (GRCm39)	I2374N	probably damaging	Het
Smg6	T	A	11: 74,826,260 (GRCm39)	Y238*	probably null	Het
Sorcs1	T	A	19: 50,248,194 (GRCm39)	K411*	probably null	Het
Spta1	G	T	1: 174,008,624 (GRCm39)	A243S	probably benign	Het
Tas2r135	A	T	6: 42,378,061 (GRCm39)		probably benign	Het
Tbx18	T	C	9: 87,612,882 (GRCm39)	R6G	probably damaging	Het
Timp3	A	G	10: 86,136,815 (GRCm39)	D33G	possibly damaging	Het
Ttf1	A	G	2: 28,961,357 (GRCm39)	K582E	probably damaging	Het
Ubr5	C	A	15: 38,041,150 (GRCm39)		probably benign	Het
Ugt2b1	A	G	5: 87,074,200 (GRCm39)	V53A	possibly damaging	Het
Ush2a	G	T	1: 188,530,035 (GRCm39)	G3275W	probably damaging	Het
Usp19	G	A	9: 108,376,329 (GRCm39)	V1023M	probably benign	Het
Usp26	T	C	X: 50,846,135 (GRCm39)	I47V	possibly damaging	Het
Vapa	A	G	17: 65,901,902 (GRCm39)	V76A	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het
Vps13a	T	C	19: 16,646,058 (GRCm39)	N1993S	probably damaging	Het
Wdr59	G	A	8: 112,202,750 (GRCm39)	R598C	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
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
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

Posted On

2016-08-02