Mutagenetix > Incidental Mutation

Incidental Mutation 'R9163:Slc17a8'

695859

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

068975-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9163 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89409882-89457111 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89425444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 380 (V380A)

Ref Sequence

ENSEMBL: ENSMUSP00000020102 (fasta)

Gene Model

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

AlphaFold

Q8BFU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000020102
AA Change: V380A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020102
Gene: ENSMUSG00000019935
AA Change: V380A

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 damaging
Transcript: ENSMUST00000105295
AA Change: V196A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100932
Gene: ENSMUSG00000019935
AA Change: V196A

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

0.3861

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,393,400 (GRCm39)	S351P	possibly damaging	Het
4930558K02Rik	A	G	1: 161,777,174 (GRCm39)	S128P	probably benign	Het
Adam17	C	T	12: 21,401,588 (GRCm39)	V136I	probably benign	Het
Adam19	A	G	11: 46,018,176 (GRCm39)	T413A	probably benign	Het
Adam28	T	C	14: 68,866,531 (GRCm39)	K443E	probably damaging	Het
Adgrv1	T	A	13: 81,567,541 (GRCm39)	T5211S	probably benign	Het
Adnp2	A	T	18: 80,172,200 (GRCm39)	N736K	possibly damaging	Het
Agtpbp1	C	T	13: 59,609,884 (GRCm39)	W1082*	probably null	Het
Ap3b2	T	G	7: 81,113,546 (GRCm39)	M888L	unknown	Het
Arhgap35	C	A	7: 16,295,549 (GRCm39)	R1172L	possibly damaging	Het
Arrdc3	T	A	13: 81,041,506 (GRCm39)	D402E	probably benign	Het
Ccdc14	T	C	16: 34,511,118 (GRCm39)	F31L	possibly damaging	Het
Cd5l	T	G	3: 87,274,932 (GRCm39)	L157R	probably benign	Het
Cdc14a	G	T	3: 116,122,213 (GRCm39)	D251E	possibly damaging	Het
Cfap210	A	T	2: 69,606,510 (GRCm39)	I302K	probably benign	Het
Chmp2a	T	A	7: 12,766,645 (GRCm39)	Q91L	possibly damaging	Het
Col12a1	A	G	9: 79,548,729 (GRCm39)		probably null	Het
Ctdsp1	G	T	1: 74,434,126 (GRCm39)	R201L	possibly damaging	Het
Dhx15	C	T	5: 52,342,198 (GRCm39)	R40H	probably damaging	Het
Dnph1	A	G	17: 46,809,860 (GRCm39)	Y134C	probably damaging	Het
Foxo1	T	A	3: 52,253,301 (GRCm39)	V488D	probably benign	Het
Gcn1	C	A	5: 115,742,944 (GRCm39)	N1538K	probably benign	Het
Gldc	T	A	19: 30,111,686 (GRCm39)	E500V	probably benign	Het
Hhip	G	A	8: 80,701,743 (GRCm39)	T597I	probably benign	Het
Hmgn1	A	G	16: 95,928,509 (GRCm39)		probably null	Het
Ifi205	A	T	1: 173,844,988 (GRCm39)	S265T	possibly damaging	Het
Igkv1-131	T	C	6: 67,743,753 (GRCm39)	M2V	probably benign	Het
Irgm2	T	G	11: 58,111,280 (GRCm39)	S324A	probably damaging	Het
Jarid2	C	G	13: 45,064,727 (GRCm39)	D937E	possibly damaging	Het
Jrkl	A	T	9: 13,245,404 (GRCm39)	W86R	probably damaging	Het
Kbtbd3	A	G	9: 4,330,584 (GRCm39)	I319M	probably benign	Het
Klhl7	T	C	5: 24,364,465 (GRCm39)	Y500H	probably damaging	Het
Lats1	C	T	10: 7,578,052 (GRCm39)	A392V	probably benign	Het
Llgl1	G	T	11: 60,600,402 (GRCm39)	A584S	probably benign	Het
Macf1	G	T	4: 123,403,686 (GRCm39)	S560Y	probably damaging	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or8c10	T	A	9: 38,279,378 (GRCm39)	C169S	probably damaging	Het
Pde10a	G	A	17: 9,181,791 (GRCm39)	C498Y	possibly damaging	Het
Pde4dip	A	G	3: 97,659,123 (GRCm39)		probably null	Het
Pdhx	G	A	2: 102,852,561 (GRCm39)	P434L	probably damaging	Het
Pdlim3	T	C	8: 46,338,711 (GRCm39)		probably null	Het
Pik3c3	T	C	18: 30,427,483 (GRCm39)		probably null	Het
Prkag1	T	C	15: 98,711,900 (GRCm39)	K242R	possibly damaging	Het
Rap1b	A	G	10: 117,654,391 (GRCm39)	S150P	possibly damaging	Het
Scn4a	A	G	11: 106,217,076 (GRCm39)	S1102P	probably damaging	Het
Scrib	A	G	15: 75,921,108 (GRCm39)	Y1332H	probably damaging	Het
Sim1	A	G	10: 50,772,165 (GRCm39)	E58G	probably benign	Het
Slc13a1	C	T	6: 24,097,578 (GRCm39)		probably null	Het
Slc5a4b	G	T	10: 75,917,165 (GRCm39)	Y290*	probably null	Het
Slco4c1	A	G	1: 96,764,633 (GRCm39)	F480L	probably damaging	Het
Srcap	T	C	7: 127,121,162 (GRCm39)	V146A	unknown	Het
Ssc5d	T	A	7: 4,936,432 (GRCm39)	D559E	probably damaging	Het
Sstr5	A	C	17: 25,710,584 (GRCm39)	I215S	probably damaging	Het
Stambpl1	G	A	19: 34,212,634 (GRCm39)	C268Y	probably benign	Het
Stard3nl	C	A	13: 19,560,809 (GRCm39)		probably benign	Het
Sycp3	T	C	10: 88,299,734 (GRCm39)		probably null	Het
Syne2	A	T	12: 76,009,349 (GRCm39)	M2417L	possibly damaging	Het
Tenm4	T	G	7: 96,473,080 (GRCm39)	Y959D	probably damaging	Het
Tmem132d	T	A	5: 127,869,570 (GRCm39)	D588V	possibly damaging	Het
Tnfrsf26	T	C	7: 143,172,130 (GRCm39)	E60G	possibly damaging	Het
Topbp1	A	G	9: 103,205,767 (GRCm39)	R802G	probably benign	Het
Trmu	T	C	15: 85,781,096 (GRCm39)	V360A	probably benign	Het
Tshz2	G	A	2: 169,726,562 (GRCm39)	C386Y	probably damaging	Het
Ttn	A	T	2: 76,700,771 (GRCm39)	D61E		Het
Upf1	T	C	8: 70,792,674 (GRCm39)	T345A	probably benign	Het
Vmn2r23	T	A	6: 123,718,782 (GRCm39)	C712S	probably damaging	Het
Vmn2r44	C	T	7: 8,371,091 (GRCm39)	V652I	probably benign	Het
Wfdc1	T	C	8: 120,393,302 (GRCm39)	V8A	probably benign	Het
Xrn1	A	G	9: 95,880,274 (GRCm39)	Y738C	probably benign	Het
Zfp618	T	G	4: 63,051,511 (GRCm39)	V764G	probably damaging	Het
Znfx1	A	T	2: 166,898,261 (GRCm39)	M221K	probably damaging	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
R4872:Slc17a8	UTSW	10	89,412,367 (GRCm39)	missense	probably benign	0.38
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
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'- TGGACTCAGAGGTCTTTGAGAC -3'
(R):5'- CTGGGATCCCACATTAGATGATTG -3'

Sequencing Primer
(F):5'- ACAATGGTTCGACTCAGTCTGAC -3'
(R):5'- CCCACATTAGATGATTGAACTTGG -3'

Posted On

2022-02-07