Mutagenetix > Incidental Mutation

Incidental Mutation 'R1625:Slc17a6'

174965

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

039662-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51271754-51320867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 51311208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 307 (F307L)

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: F307L

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

SMART Domains

Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
AA Change: F307L

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: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,857,947 (GRCm39)	M605L	probably benign	Het
Abcc5	A	T	16: 20,184,567 (GRCm39)	S1031T	probably damaging	Het
Acot7	T	A	4: 152,270,748 (GRCm39)	C31S	probably benign	Het
Acss3	A	T	10: 106,773,263 (GRCm39)		probably null	Het
Adipor1	T	C	1: 134,351,802 (GRCm39)	F83S	possibly damaging	Het
Agrn	G	A	4: 156,257,317 (GRCm39)	S1171L	probably damaging	Het
Aoc1l1	T	A	6: 48,952,105 (GRCm39)	L10Q	probably damaging	Het
Arhgap5	T	A	12: 52,564,159 (GRCm39)	C377S	probably benign	Het
Arid4b	T	A	13: 14,361,699 (GRCm39)	V721D	probably damaging	Het
Aspm	G	A	1: 139,408,777 (GRCm39)	A2555T	probably benign	Het
Atp6v0a1	T	A	11: 100,946,380 (GRCm39)	L791Q	probably damaging	Het
Car11	A	G	7: 45,350,731 (GRCm39)	K76E	probably benign	Het
Casp8ap2	T	A	4: 32,648,068 (GRCm39)	M1925K	probably benign	Het
Cc2d1a	A	T	8: 84,866,001 (GRCm39)	L418Q	probably damaging	Het
Ccl9	G	A	11: 83,466,736 (GRCm39)	R64W	probably damaging	Het
Cfap20dc	A	G	14: 8,431,668 (GRCm38)	Y655H	probably damaging	Het
Cfap43	T	A	19: 47,739,527 (GRCm39)	K1325N	probably damaging	Het
Dars2	G	A	1: 160,881,614 (GRCm39)	P305L	possibly damaging	Het
Ddx11	C	T	17: 66,457,692 (GRCm39)	T859I	probably benign	Het
Dock7	C	T	4: 98,850,433 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,831,839 (GRCm39)	V570A	probably benign	Het
Fermt1	T	A	2: 132,764,751 (GRCm39)	I369F	probably damaging	Het
Fras1	A	G	5: 96,861,849 (GRCm39)	Y2161C	probably damaging	Het
Fras1	C	A	5: 96,857,837 (GRCm39)	P2044T	possibly damaging	Het
Gucy1a1	T	C	3: 82,009,362 (GRCm39)	I549V	probably benign	Het
Hspg2	G	A	4: 137,246,282 (GRCm39)	S1020N	probably benign	Het
Kif21a	A	G	15: 90,826,378 (GRCm39)	S1360P	probably damaging	Het
Lrp3	T	C	7: 34,903,350 (GRCm39)	Y332C	probably damaging	Het
Ltc4s	C	A	11: 50,128,215 (GRCm39)	A32S	possibly damaging	Het
Mgrn1	T	C	16: 4,728,627 (GRCm39)	L84P	probably damaging	Het
Muc2	C	G	7: 141,283,405 (GRCm39)	C672W	probably damaging	Het
Mvp	A	T	7: 126,600,845 (GRCm39)	V52E	probably damaging	Het
Ndrg2	T	C	14: 52,144,420 (GRCm39)	T269A	probably damaging	Het
Notch2	T	A	3: 98,018,891 (GRCm39)	D684E	probably damaging	Het
Nup205	A	G	6: 35,168,878 (GRCm39)	D316G	probably benign	Het
Or12e7	T	A	2: 87,288,016 (GRCm39)	I169K	probably damaging	Het
Or2v2	T	C	11: 49,004,071 (GRCm39)	M161V	probably benign	Het
Or7d11	A	G	9: 19,966,678 (GRCm39)	L27P	probably damaging	Het
Pcsk1	A	T	13: 75,274,971 (GRCm39)	D520V	probably benign	Het
Pik3cg	A	T	12: 32,244,741 (GRCm39)	D904E	probably damaging	Het
Pitpnm2	T	A	5: 124,271,496 (GRCm39)	D359V	probably benign	Het
Ppih	T	C	4: 119,175,779 (GRCm39)	I69V	probably damaging	Het
Rab11fip3	T	C	17: 26,287,865 (GRCm39)	E96G	possibly damaging	Het
Retreg3	C	A	11: 100,992,875 (GRCm39)	M1I	probably null	Het
Rfpl4	C	T	7: 5,118,409 (GRCm39)	V54I	possibly damaging	Het
Rif1	T	C	2: 51,993,652 (GRCm39)	I855T	probably benign	Het
Rrm1	T	A	7: 102,117,554 (GRCm39)	I748N	probably damaging	Het
Sap130	T	A	18: 31,807,517 (GRCm39)	N441K	probably damaging	Het
Sf3b1	T	A	1: 55,058,536 (GRCm39)	I18F	probably damaging	Het
Skor2	A	G	18: 76,946,499 (GRCm39)	N74D	unknown	Het
Slc25a13	G	A	6: 6,096,675 (GRCm39)	L410F	probably damaging	Het
Slc47a1	A	T	11: 61,262,625 (GRCm39)	V38E	probably damaging	Het
Slc8a1	T	A	17: 81,956,670 (GRCm39)	T123S	probably damaging	Het
Slc9a5	C	A	8: 106,094,755 (GRCm39)	T782K	possibly damaging	Het
Spmip7	C	A	11: 11,438,644 (GRCm39)		probably benign	Het
Sppl2c	C	A	11: 104,077,995 (GRCm39)	T265K	probably damaging	Het
Srfbp1	A	G	18: 52,621,788 (GRCm39)	K283R	probably benign	Het
Ssr1	C	T	13: 38,173,479 (GRCm39)		probably null	Het
Stard3nl	T	C	13: 19,556,754 (GRCm39)		probably null	Het
Timeless	G	T	10: 128,076,493 (GRCm39)	S134I	probably damaging	Het
Tll1	A	G	8: 64,494,476 (GRCm39)	F760L	probably damaging	Het
Tspear	A	G	10: 77,706,333 (GRCm39)	I368V	probably benign	Het
Txnrd2	G	T	16: 18,257,116 (GRCm39)	W144L	probably damaging	Het
Unc5d	T	C	8: 29,173,234 (GRCm39)	E668G	probably damaging	Het
Urb1	C	T	16: 90,570,936 (GRCm39)		probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vmn1r66	G	T	7: 10,008,316 (GRCm39)	T239K	probably benign	Het
Vps39	C	T	2: 120,154,106 (GRCm39)	V630M	probably damaging	Het
Wrn	T	C	8: 33,819,158 (GRCm39)	T22A	probably benign	Het
Zfp7	T	A	15: 76,765,374 (GRCm39)	D22E	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
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
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'- GACTTCAGAGAGGTGGGCAATAACC -3'
(R):5'- TGTTCAGACCCTTCGAAATGGAAGC -3'

Sequencing Primer
(F):5'- GCTCTTAGAACTTAGAACACATGG -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2014-04-24