Mutagenetix > Incidental Mutation

Incidental Mutation 'R5570:Slc17a6'

435611

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

043127-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51271754-51320867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51308504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 276 (D276G)

Ref Sequence

ENSEMBL: ENSMUSP00000032710 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032710
AA Change: D276G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
AA Change: D276G

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 benign
Transcript: ENSMUST00000207945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208597

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.5%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrv1	C	A	9: 36,605,577 (GRCm39)	S41R	probably damaging	Het
Aqr	G	A	2: 113,979,451 (GRCm39)	T328M	probably damaging	Het
Arhgap26	C	A	18: 39,232,671 (GRCm39)	D99E	probably damaging	Het
Boc	G	A	16: 44,313,187 (GRCm39)	T559I	probably damaging	Het
Cadps	A	T	14: 12,473,497 (GRCm38)	I876N	possibly damaging	Het
Cep72	T	C	13: 74,188,260 (GRCm39)	Q211R	probably benign	Het
Clmp	T	C	9: 40,683,826 (GRCm39)		probably null	Het
Coq6	T	A	12: 84,415,413 (GRCm39)	D145E	probably benign	Het
Crym	T	C	7: 119,801,116 (GRCm39)	E11G	probably benign	Het
Defb36	T	A	2: 152,454,503 (GRCm39)	V54E	probably damaging	Het
Dlg5	C	A	14: 24,242,981 (GRCm39)	E55*	probably null	Het
Dock2	G	T	11: 34,618,233 (GRCm39)	R128S	probably damaging	Het
E330034G19Rik	A	G	14: 24,346,892 (GRCm39)	K60E	possibly damaging	Het
Eps8l2	G	A	7: 140,934,920 (GRCm39)	R76Q	possibly damaging	Het
Espn	T	C	4: 152,208,237 (GRCm39)	E460G	probably damaging	Het
Fbxl18	A	G	5: 142,881,022 (GRCm39)		probably benign	Het
Fgd5	T	C	6: 91,965,668 (GRCm39)	S476P	probably damaging	Het
Gsto1	T	C	19: 47,846,338 (GRCm39)	W62R	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Gxylt1	A	G	15: 93,152,180 (GRCm39)		probably null	Het
Hs6st1	C	T	1: 36,142,719 (GRCm39)	P218L	probably benign	Het
Kif5c	A	G	2: 49,620,211 (GRCm39)	D226G	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Lpxn	T	A	19: 12,810,023 (GRCm39)	M265K	possibly damaging	Het
Map3k9	A	G	12: 81,778,798 (GRCm39)	L505P	possibly damaging	Het
Mcm3ap	C	T	10: 76,316,930 (GRCm39)	R645W	possibly damaging	Het
Msr1	T	C	8: 40,064,760 (GRCm39)	I305V	probably benign	Het
Muc4	A	G	16: 32,598,066 (GRCm39)	E3237G	possibly damaging	Het
Necap1	T	C	6: 122,858,471 (GRCm39)	F105L	probably damaging	Het
Nploc4	C	T	11: 120,275,440 (GRCm39)	V499M	probably benign	Het
Nup93	T	C	8: 95,041,298 (GRCm39)	V812A	probably damaging	Het
Or10ak7	T	A	4: 118,791,263 (GRCm39)	I259F	possibly damaging	Het
Or6e1	A	G	14: 54,519,825 (GRCm39)	F176L	probably damaging	Het
Or9g3	G	A	2: 85,589,994 (GRCm39)	S242F	probably damaging	Het
Parn	G	A	16: 13,483,794 (GRCm39)	P50L	probably damaging	Het
Pcdhb7	T	C	18: 37,477,224 (GRCm39)	C787R	probably benign	Het
Pdk2	A	T	11: 94,920,826 (GRCm39)	I175N	probably damaging	Het
Pelo	T	C	13: 115,226,152 (GRCm39)	I102V	probably benign	Het
Phf12	A	G	11: 77,908,937 (GRCm39)	D339G	possibly damaging	Het
Phlpp1	A	T	1: 106,101,162 (GRCm39)	I477F	probably benign	Het
Pigt	T	A	2: 164,343,482 (GRCm39)	Y319*	probably null	Het
Pmpca	A	G	2: 26,280,553 (GRCm39)	E133G	probably damaging	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Pus7l	G	A	15: 94,425,746 (GRCm39)	P552S	probably benign	Het
Qsox2	A	G	2: 26,115,230 (GRCm39)	M1T	probably null	Het
Rara	C	G	11: 98,863,478 (GRCm39)	R382G	probably damaging	Het
Rbbp6	A	G	7: 122,601,057 (GRCm39)		probably benign	Het
Rev3l	T	C	10: 39,728,071 (GRCm39)		probably null	Het
Robo3	T	A	9: 37,336,571 (GRCm39)	Y399F	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Skint3	A	G	4: 112,092,995 (GRCm39)	M20V	probably benign	Het
Sult3a2	A	T	10: 33,654,268 (GRCm39)	V128D	probably damaging	Het
Syt3	T	A	7: 44,040,043 (GRCm39)	V92E	possibly damaging	Het
Them7	A	G	2: 105,209,153 (GRCm39)	T158A	probably benign	Het
Utp14b	G	A	1: 78,643,118 (GRCm39)	D339N	probably damaging	Het
Vars1	T	C	17: 35,235,214 (GRCm39)	F1259L	probably benign	Het
Vmn1r115	A	C	7: 20,578,555 (GRCm39)	V119G	possibly damaging	Het
Zc3h12a	C	T	4: 125,014,166 (GRCm39)	R293H	probably damaging	Het
Zfp638	A	T	6: 83,956,170 (GRCm39)	E1592D	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
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
R7325:Slc17a6	UTSW	7	51,294,766 (GRCm39)	missense	probably damaging	0.96
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'- GTGCCCACACCACATTAAATGG -3'
(R):5'- AATTATTCCCGGTGGAGGCTAGG -3'

Sequencing Primer
(F):5'- TGGCATGGTCTGGTACAT -3'
(R):5'- GCTTAGAGAAAGATTAGAGCCAGAC -3'

Posted On

2016-10-24