Mutagenetix > Incidental Mutation

Incidental Mutation 'R4872:Slc17a8'

376668

Institutional Source

Beutler Lab

Gene Symbol

Slc17a8

Ensembl Gene

ENSMUSG00000019935

Gene Name

solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8

Synonyms

Vglut3, Vgt3

MMRRC Submission

042482-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89409882-89457111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89412367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 539 (D539E)

Ref Sequence

ENSEMBL: ENSMUSP00000020102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020102] [ENSMUST00000105295]

AlphaFold

Q8BFU8

Predicted Effect

probably benign
Transcript: ENSMUST00000020102
AA Change: D539E

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020102
Gene: ENSMUSG00000019935
AA Change: D539E

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
internal_repeat_1	62	77	3.74e-7	PROSPERO
internal_repeat_1	75	90	3.74e-7	PROSPERO
Pfam:MFS_1	95	478	1e-46	PFAM
transmembrane domain	493	515	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105295
AA Change: D355E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000100932
Gene: ENSMUSG00000019935
AA Change: D355E

Domain	Start	End	E-Value	Type
Pfam:MFS_1	1	294	1.1e-34	PFAM
transmembrane domain	309	331	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (81/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit sensorineural hearing loss, cochlear ganglion degeneration, decreased synaptic glutamate release, and nonconvulsive seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	C	A	15: 91,075,514 (GRCm39)	V100L	probably benign	Het
Acad11	G	A	9: 103,963,465 (GRCm39)		probably benign	Het
Actb	C	T	5: 142,891,307 (GRCm39)		probably benign	Het
Ano9	G	A	7: 140,687,117 (GRCm39)	A374V	probably damaging	Het
Baz2b	T	C	2: 59,773,103 (GRCm39)		probably null	Het
Bltp3a	G	T	17: 28,109,110 (GRCm39)	D1110Y	probably benign	Het
Bpifb9b	T	A	2: 154,155,551 (GRCm39)	L350Q	probably damaging	Het
Cd27	T	A	6: 125,211,281 (GRCm39)		probably null	Het
Cd72	A	G	4: 43,449,563 (GRCm39)		probably benign	Het
Cdadc1	A	T	14: 59,801,973 (GRCm39)	S516T	probably benign	Het
Chst5	T	A	8: 112,617,192 (GRCm39)	I143F	possibly damaging	Het
Col20a1	T	C	2: 180,639,156 (GRCm39)	V452A	possibly damaging	Het
Cox11	C	A	11: 90,535,229 (GRCm39)	Q227K	probably benign	Het
Cpa6	A	G	1: 10,665,843 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dpm2	T	C	2: 32,461,203 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Frem1	A	C	4: 82,881,387 (GRCm39)	N1273K	probably damaging	Het
Fry	T	C	5: 150,317,704 (GRCm39)		probably null	Het
Gm10306	G	T	4: 94,445,069 (GRCm39)		probably benign	Het
Gm5565	T	C	5: 146,094,913 (GRCm39)	T278A	probably benign	Het
Gm8180	A	G	14: 44,019,802 (GRCm39)	I40T	probably benign	Het
Iah1	T	C	12: 21,367,426 (GRCm39)	V44A	probably benign	Het
Iqgap3	C	T	3: 88,020,435 (GRCm39)	P360S	probably damaging	Het
Klhl28	T	A	12: 65,003,896 (GRCm39)	I206F	possibly damaging	Het
Krt13	A	G	11: 100,012,332 (GRCm39)		probably benign	Het
Lipo2	T	A	19: 33,726,914 (GRCm39)	D41V	probably benign	Het
Lrig2	C	G	3: 104,398,842 (GRCm39)	V229L	possibly damaging	Het
Lrrc32	C	T	7: 98,147,727 (GRCm39)	T169I	probably damaging	Het
Lrriq1	T	C	10: 103,014,649 (GRCm39)	N1053S	possibly damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mgat4c	G	C	10: 102,224,599 (GRCm39)	R271P	probably damaging	Het
Mylk	A	G	16: 34,735,360 (GRCm39)	N780S	possibly damaging	Het
N4bp1	T	C	8: 87,587,676 (GRCm39)	T421A	probably benign	Het
Nat8f1	T	C	6: 85,887,295 (GRCm39)	T222A	probably benign	Het
Nsun2	T	C	13: 69,691,992 (GRCm39)		probably benign	Het
Oas2	T	A	5: 120,876,599 (GRCm39)	D448V	probably damaging	Het
Or10al7	C	A	17: 38,366,467 (GRCm39)	V6F	probably benign	Het
Or2l13b	A	T	16: 19,349,383 (GRCm39)	C96S	probably damaging	Het
Or5ak22	T	C	2: 85,230,772 (GRCm39)	Y35C	probably damaging	Het
Pgm2l1	T	A	7: 99,877,204 (GRCm39)	L25Q	probably damaging	Het
Pigp	A	T	16: 94,166,309 (GRCm39)	V133D	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pomt2	C	T	12: 87,156,881 (GRCm39)	D752N	possibly damaging	Het
Ppat	T	C	5: 77,074,640 (GRCm39)	K65E	probably damaging	Het
Ptprn2	T	C	12: 117,125,314 (GRCm39)	L616P	probably damaging	Het
Rad54l2	A	G	9: 106,595,091 (GRCm39)	S289P	probably damaging	Het
Rbm39	G	A	2: 156,019,266 (GRCm39)	R31C	possibly damaging	Het
Rhbdf2	C	A	11: 116,492,771 (GRCm39)	V417L	probably benign	Het
Rnf157	T	A	11: 116,246,298 (GRCm39)	E255D	possibly damaging	Het
Rpl6l	A	T	10: 110,962,304 (GRCm39)		noncoding transcript	Het
Sec24c	A	G	14: 20,743,813 (GRCm39)	D1006G	probably damaging	Het
Sh3bp1	G	T	15: 78,792,237 (GRCm39)	A401S	probably benign	Het
Slc38a9	T	A	13: 112,826,098 (GRCm39)	S136R	probably damaging	Het
Smoc2	A	C	17: 14,589,295 (GRCm39)	T255P	probably benign	Het
Smyd2	T	C	1: 189,628,847 (GRCm39)	D152G	probably damaging	Het
Stab1	A	G	14: 30,862,350 (GRCm39)	V2328A	probably damaging	Het
Taar2	A	G	10: 23,816,591 (GRCm39)	I44V	probably benign	Het
Tbc1d4	T	C	14: 101,682,144 (GRCm39)	K1251E	probably benign	Het
Thada	G	A	17: 84,754,027 (GRCm39)	L315F	probably damaging	Het
Trbv14	T	C	6: 41,112,259 (GRCm39)	S19P	probably benign	Het
Ttc39c	T	C	18: 12,820,173 (GRCm39)		probably benign	Het
Ttc39d	A	G	17: 80,524,527 (GRCm39)	I395M	probably benign	Het
Ttn	T	C	2: 76,548,728 (GRCm39)	E31891G	probably damaging	Het
Ubr3	T	C	2: 69,800,527 (GRCm39)	V950A	probably damaging	Het
Usp9y	T	A	Y: 1,307,920 (GRCm39)	K2305N	probably damaging	Het
Vmn1r158	G	A	7: 22,490,179 (GRCm39)	T10I	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r78	T	A	7: 86,603,916 (GRCm39)	I698K	possibly damaging	Het
Vmn2r86	G	T	10: 130,289,460 (GRCm39)	T145K	probably damaging	Het
Zfp51	T	C	17: 21,684,933 (GRCm39)	V516A	probably benign	Het
Zfp654	A	T	16: 64,606,145 (GRCm39)	S686T	probably benign	Het
Zfp846	T	A	9: 20,502,111 (GRCm39)	C55S	probably benign	Het

Other mutations in Slc17a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Slc17a8	APN	10	89,427,157 (GRCm39)	missense	possibly damaging	0.70
IGL00990:Slc17a8	APN	10	89,412,392 (GRCm39)	missense	probably benign	0.01
IGL01317:Slc17a8	APN	10	89,456,666 (GRCm39)	missense	probably benign	0.02
IGL01339:Slc17a8	APN	10	89,427,106 (GRCm39)	missense	probably damaging	1.00
IGL01468:Slc17a8	APN	10	89,427,883 (GRCm39)	critical splice donor site	probably null
IGL02401:Slc17a8	APN	10	89,412,522 (GRCm39)	splice site	probably null
IGL02638:Slc17a8	APN	10	89,412,465 (GRCm39)	nonsense	probably null
IGL02859:Slc17a8	APN	10	89,412,446 (GRCm39)	missense	probably benign	0.11
R0518:Slc17a8	UTSW	10	89,412,192 (GRCm39)	missense	probably benign	0.00
R0521:Slc17a8	UTSW	10	89,412,192 (GRCm39)	missense	probably benign	0.00
R0610:Slc17a8	UTSW	10	89,412,488 (GRCm39)	missense	probably damaging	0.99
R0846:Slc17a8	UTSW	10	89,442,596 (GRCm39)	missense	possibly damaging	0.81
R0928:Slc17a8	UTSW	10	89,434,545 (GRCm39)	missense	probably damaging	1.00
R1277:Slc17a8	UTSW	10	89,433,319 (GRCm39)	missense	possibly damaging	0.80
R1401:Slc17a8	UTSW	10	89,427,076 (GRCm39)	missense	probably damaging	1.00
R1854:Slc17a8	UTSW	10	89,442,627 (GRCm39)	missense	unknown
R1935:Slc17a8	UTSW	10	89,413,777 (GRCm39)	missense	probably benign	0.03
R1936:Slc17a8	UTSW	10	89,413,777 (GRCm39)	missense	probably benign	0.03
R3887:Slc17a8	UTSW	10	89,427,000 (GRCm39)	splice site	probably benign
R4227:Slc17a8	UTSW	10	89,434,575 (GRCm39)	missense	probably damaging	1.00
R5023:Slc17a8	UTSW	10	89,412,422 (GRCm39)	missense	probably benign	0.01
R5330:Slc17a8	UTSW	10	89,425,356 (GRCm39)	critical splice donor site	probably null
R5331:Slc17a8	UTSW	10	89,425,356 (GRCm39)	critical splice donor site	probably null
R5576:Slc17a8	UTSW	10	89,433,364 (GRCm39)	missense	probably damaging	1.00
R5593:Slc17a8	UTSW	10	89,442,702 (GRCm39)	missense	probably benign
R6035:Slc17a8	UTSW	10	89,427,937 (GRCm39)	missense	possibly damaging	0.67
R6035:Slc17a8	UTSW	10	89,427,937 (GRCm39)	missense	possibly damaging	0.67
R7038:Slc17a8	UTSW	10	89,436,083 (GRCm39)	missense	probably benign	0.00
R7220:Slc17a8	UTSW	10	89,412,275 (GRCm39)	missense	probably benign
R7514:Slc17a8	UTSW	10	89,427,969 (GRCm39)	missense	probably damaging	1.00
R7574:Slc17a8	UTSW	10	89,428,008 (GRCm39)	missense	probably benign	0.01
R7689:Slc17a8	UTSW	10	89,433,319 (GRCm39)	missense	possibly damaging	0.80
R8145:Slc17a8	UTSW	10	89,412,233 (GRCm39)	missense	probably benign	0.00
R8693:Slc17a8	UTSW	10	89,428,758 (GRCm39)	missense	probably benign	0.08
R8857:Slc17a8	UTSW	10	89,427,022 (GRCm39)	missense	probably damaging	1.00
R9163:Slc17a8	UTSW	10	89,425,444 (GRCm39)	missense	probably damaging	0.99
X0021:Slc17a8	UTSW	10	89,434,544 (GRCm39)	missense	probably damaging	1.00
X0067:Slc17a8	UTSW	10	89,428,774 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTAAGCTGAGGTGAAGCC -3'
(R):5'- CAAATGCTTGGGGCTCACTG -3'

Sequencing Primer
(F):5'- AGGATGTTTCTGAGAAGTCTCC -3'
(R):5'- TTGGGGCTCACTGGTAACCTC -3'

Posted On

2016-03-17