Mutagenetix > Incidental Mutation

Incidental Mutation 'R7325:Slc17a6'

568819

Institutional Source

Beutler Lab

Gene Symbol

Slc17a6

Ensembl Gene

ENSMUSG00000030500

Gene Name

solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6

Synonyms

VGLUT2, 2900073D12Rik

MMRRC Submission

045419-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51271754-51320867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 51294766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 158 (A158S)

Ref Sequence

ENSEMBL: ENSMUSP00000032710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032710] [ENSMUST00000207945]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032710
AA Change: A158S

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
AA Change: A158S

Domain	Start	End	E-Value	Type
Pfam:MFS_1	76	461	6.5e-50	PFAM
transmembrane domain	476	498	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000207945
AA Change: A158S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

MGI Phenotype

PHENOTYPE: Mice homozygous for null mutations display neonatal lethality, respiratory failure, and abnormal nervous system physiology. Heterozygous mice for one allele display abnormal miniature EPSC and reduced responses to neuropathic pain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,571,711 (GRCm39)	Q402L	probably benign	Het
Afap1l1	T	C	18: 61,869,917 (GRCm39)	T638A	probably benign	Het
Agtr1a	A	C	13: 30,565,890 (GRCm39)	K318N	possibly damaging	Het
Anks1b	A	G	10: 90,777,294 (GRCm39)	T1095A	probably damaging	Het
Ap3d1	A	T	10: 80,559,637 (GRCm39)	I207N	probably damaging	Het
Arhgef11	T	C	3: 87,620,599 (GRCm39)	L484P	possibly damaging	Het
Astn2	C	T	4: 65,460,906 (GRCm39)	S1076N	probably benign	Het
Baat	C	A	4: 49,490,213 (GRCm39)	L290F	probably benign	Het
Boll	T	C	1: 55,343,757 (GRCm39)	Y222C	probably damaging	Het
Bphl	A	T	13: 34,234,324 (GRCm39)	I147F	possibly damaging	Het
Cadps2	T	G	6: 23,409,934 (GRCm39)	D766A	unknown	Het
Cd300lb	T	A	11: 114,815,858 (GRCm39)	K210M	probably damaging	Het
Cdan1	T	C	2: 120,555,185 (GRCm39)	Q797R	probably benign	Het
Celsr1	T	A	15: 85,917,209 (GRCm39)	S255C	probably damaging	Het
Cfap91	T	A	16: 38,141,963 (GRCm39)		probably null	Het
Cip2a	T	A	16: 48,826,184 (GRCm39)	M417K	probably benign	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Dennd5b	T	A	6: 148,922,068 (GRCm39)	K815N	probably benign	Het
Exd1	A	G	2: 119,350,620 (GRCm39)	V547A	probably benign	Het
Fbxo15	C	T	18: 84,977,243 (GRCm39)	R52C	probably damaging	Het
Fip1l1	A	G	5: 74,697,460 (GRCm39)		probably null	Het
Flg2	T	A	3: 93,110,679 (GRCm39)	N902K	unknown	Het
Fyttd1	T	A	16: 32,704,618 (GRCm39)	N76K	probably benign	Het
Gins1	T	A	2: 150,758,086 (GRCm39)	D57E	probably benign	Het
Gm5565	G	C	5: 146,095,171 (GRCm39)		probably null	Het
Gpsm2	T	C	3: 108,610,244 (GRCm39)	Y72C	probably damaging	Het
Hace1	C	A	10: 45,465,603 (GRCm39)	S53*	probably null	Het
Insig2	A	G	1: 121,234,666 (GRCm39)	V188A	possibly damaging	Het
Ism1	T	C	2: 139,598,963 (GRCm39)	V312A	probably damaging	Het
Jmy	A	T	13: 93,609,251 (GRCm39)	Y353N	probably damaging	Het
Maz	A	C	7: 126,624,725 (GRCm39)	V265G	probably benign	Het
Mtmr14	T	A	6: 113,246,509 (GRCm39)	I426N	probably damaging	Het
Or1e34	C	T	11: 73,779,101 (GRCm39)	M32I	probably benign	Het
Or5b113	A	G	19: 13,342,001 (GRCm39)	E3G	probably benign	Het
Or8k22	A	G	2: 86,163,344 (GRCm39)	S119P	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,413 (GRCm39)	N464K	probably damaging	Het
Pcdhb7	T	A	18: 37,476,440 (GRCm39)	H525Q	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Podn	C	T	4: 107,874,899 (GRCm39)		probably null	Het
Prim1	A	G	10: 127,858,788 (GRCm39)	D232G	probably null	Het
Prrt1	T	A	17: 34,851,161 (GRCm39)	M283K	possibly damaging	Het
Rgs9	A	T	11: 109,167,407 (GRCm39)	I65N	probably damaging	Het
Scgb2b26	C	A	7: 33,643,782 (GRCm39)	V53L	probably benign	Het
Shank2	C	A	7: 143,965,422 (GRCm39)	P1010Q	probably benign	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc9a9	C	T	9: 94,594,951 (GRCm39)	H154Y	probably benign	Het
Slco1a8	T	C	6: 141,934,951 (GRCm39)	K379E	probably damaging	Het
Slco2a1	T	A	9: 102,962,948 (GRCm39)		probably null	Het
Snapc3	T	C	4: 83,353,507 (GRCm39)	I182T	probably benign	Het
Taok2	A	G	7: 126,470,260 (GRCm39)	V856A	probably benign	Het
Tep1	T	A	14: 51,103,495 (GRCm39)	N265I	probably damaging	Het
Tespa1	A	T	10: 130,197,910 (GRCm39)	N311Y	probably damaging	Het
Tpmt	G	A	13: 47,194,960 (GRCm39)	Q14*	probably null	Het
Trim33	T	C	3: 103,228,952 (GRCm39)	F353L	possibly damaging	Het
Upp1	T	C	11: 9,084,743 (GRCm39)	V154A	probably damaging	Het
Usp34	T	C	11: 23,369,052 (GRCm39)	I1747T		Het
Vmn1r47	T	C	6: 89,999,254 (GRCm39)	S129P	probably benign	Het
Vmn2r93	A	G	17: 18,524,249 (GRCm39)	Y81C	probably benign	Het
Ybx2	A	T	11: 69,831,181 (GRCm39)	T259S	probably benign	Het
Zfp536	T	C	7: 37,179,285 (GRCm39)	T1107A	probably benign	Het
Zfp583	C	T	7: 6,319,585 (GRCm39)	A476T	probably damaging	Het

Other mutations in Slc17a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01408:Slc17a6	APN	7	51,318,863 (GRCm39)	missense	probably benign	0.15
IGL01653:Slc17a6	APN	7	51,317,770 (GRCm39)	missense	possibly damaging	0.92
IGL01993:Slc17a6	APN	7	51,317,705 (GRCm39)	missense	possibly damaging	0.51
IGL02082:Slc17a6	APN	7	51,318,777 (GRCm39)	missense	probably benign	0.00
IGL02212:Slc17a6	APN	7	51,317,218 (GRCm39)	missense	possibly damaging	0.94
IGL02544:Slc17a6	APN	7	51,315,903 (GRCm39)	nonsense	probably null
IGL02585:Slc17a6	APN	7	51,275,097 (GRCm39)	missense	probably benign	0.00
IGL03206:Slc17a6	APN	7	51,315,771 (GRCm39)	splice site	probably benign
IGL03396:Slc17a6	APN	7	51,318,840 (GRCm39)	missense	probably damaging	1.00
R0137:Slc17a6	UTSW	7	51,315,892 (GRCm39)	missense	probably benign	0.00
R0141:Slc17a6	UTSW	7	51,318,815 (GRCm39)	missense	probably benign	0.10
R0207:Slc17a6	UTSW	7	51,295,928 (GRCm39)	intron	probably benign
R0362:Slc17a6	UTSW	7	51,308,519 (GRCm39)	missense	probably damaging	1.00
R0841:Slc17a6	UTSW	7	51,275,063 (GRCm39)	missense	probably benign	0.29
R1037:Slc17a6	UTSW	7	51,298,996 (GRCm39)	splice site	probably benign
R1325:Slc17a6	UTSW	7	51,311,300 (GRCm39)	missense	probably benign	0.15
R1614:Slc17a6	UTSW	7	51,296,025 (GRCm39)	intron	probably benign
R1625:Slc17a6	UTSW	7	51,311,208 (GRCm39)	missense	probably benign	0.00
R1736:Slc17a6	UTSW	7	51,311,333 (GRCm39)	splice site	probably benign
R1777:Slc17a6	UTSW	7	51,295,957 (GRCm39)	missense	possibly damaging	0.63
R1824:Slc17a6	UTSW	7	51,311,294 (GRCm39)	missense	probably damaging	1.00
R2249:Slc17a6	UTSW	7	51,317,654 (GRCm39)	missense	probably damaging	1.00
R4283:Slc17a6	UTSW	7	51,294,824 (GRCm39)	missense	probably damaging	1.00
R4910:Slc17a6	UTSW	7	51,308,489 (GRCm39)	missense	possibly damaging	0.78
R5301:Slc17a6	UTSW	7	51,308,519 (GRCm39)	missense	probably damaging	1.00
R5523:Slc17a6	UTSW	7	51,276,598 (GRCm39)	nonsense	probably null
R5570:Slc17a6	UTSW	7	51,308,504 (GRCm39)	missense	probably benign	0.00
R5720:Slc17a6	UTSW	7	51,275,145 (GRCm39)	missense	probably damaging	1.00
R5736:Slc17a6	UTSW	7	51,294,841 (GRCm39)	missense	possibly damaging	0.78
R5765:Slc17a6	UTSW	7	51,275,249 (GRCm39)	missense	possibly damaging	0.93
R6380:Slc17a6	UTSW	7	51,317,211 (GRCm39)	missense	probably benign	0.02
R6989:Slc17a6	UTSW	7	51,311,224 (GRCm39)	missense	possibly damaging	0.88
R7178:Slc17a6	UTSW	7	51,317,259 (GRCm39)	missense	possibly damaging	0.58
R7194:Slc17a6	UTSW	7	51,276,640 (GRCm39)	missense	probably damaging	1.00
R7766:Slc17a6	UTSW	7	51,318,914 (GRCm39)	missense	probably benign	0.06
R7877:Slc17a6	UTSW	7	51,275,253 (GRCm39)	missense	probably benign	0.00
R7898:Slc17a6	UTSW	7	51,308,573 (GRCm39)	splice site	probably null
R8059:Slc17a6	UTSW	7	51,294,792 (GRCm39)	missense	probably damaging	1.00
R8788:Slc17a6	UTSW	7	51,298,908 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCACTGGGATGTCTGGAAC -3'
(R):5'- TGACCACCTTGTATTTCCAGTG -3'

Sequencing Primer
(F):5'- AAATGTGATTGCTTTTGGCCTACC -3'
(R):5'- TACCTCCACAAGTCCTTG -3'

Posted On

2019-09-13