Mutagenetix > Incidental Mutation

Incidental Mutation 'R7178:Slc17a6'

558767

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

045232-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51271754-51320867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51317259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 427 (I427V)

Ref Sequence

ENSEMBL: ENSMUSP00000032710 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032710
AA Change: I427V

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
AA Change: I427V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (75/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	A	G	9: 54,535,745 (GRCm39)	I130T	possibly damaging	Het
Adam24	T	A	8: 41,133,039 (GRCm39)	L169*	probably null	Het
Als2	A	T	1: 59,246,971 (GRCm39)	I556N	probably damaging	Het
Ankrd44	A	T	1: 54,688,599 (GRCm39)	N212K		Het
Anpep	T	C	7: 79,490,736 (GRCm39)	D260G	probably benign	Het
Arhgap17	A	T	7: 122,884,581 (GRCm39)		probably null	Het
Atad2	C	T	15: 57,980,689 (GRCm39)	R383Q	probably damaging	Het
Atp11b	T	A	3: 35,874,099 (GRCm39)	M696K	probably benign	Het
Atp13a2	A	G	4: 140,726,462 (GRCm39)	T350A	probably damaging	Het
Atp8b2	T	C	3: 89,850,979 (GRCm39)	D29G	possibly damaging	Het
Baz2a	C	T	10: 127,960,326 (GRCm39)	R1514W	probably damaging	Het
Cep250	T	A	2: 155,815,375 (GRCm39)	L631*	probably null	Het
Cimip2a	G	A	2: 25,110,252 (GRCm39)	V55I	probably damaging	Het
Clec4a3	T	C	6: 122,941,251 (GRCm39)	I82T	probably benign	Het
Csmd3	T	A	15: 47,454,170 (GRCm39)	I2648F		Het
Cul5	A	G	9: 53,555,826 (GRCm39)	F247L	probably benign	Het
Dnajc24	A	T	2: 105,800,807 (GRCm39)	M101K	probably damaging	Het
Dnhd1	T	A	7: 105,344,200 (GRCm39)	V1848E	probably damaging	Het
Dspp	A	G	5: 104,321,932 (GRCm39)	T14A	probably benign	Het
Gm7298	T	G	6: 121,762,855 (GRCm39)	I1392S	probably damaging	Het
Gm9955	A	T	18: 24,842,220 (GRCm39)	S62R	unknown	Het
Gtsf1	T	G	15: 103,328,388 (GRCm39)	N130T	probably benign	Het
Heatr5a	C	A	12: 51,971,925 (GRCm39)	S755I	probably damaging	Het
Hrc	A	G	7: 44,985,685 (GRCm39)	T279A	possibly damaging	Het
Hvcn1	T	C	5: 122,371,573 (GRCm39)	W38R	probably damaging	Het
Hyal6	A	G	6: 24,734,834 (GRCm39)	S256G	probably benign	Het
Insyn2b	G	T	11: 34,352,359 (GRCm39)	V134F	probably damaging	Het
Ipo13	A	G	4: 117,761,081 (GRCm39)	S546P	possibly damaging	Het
Katnip	T	C	7: 125,465,499 (GRCm39)	V1317A	probably benign	Het
Kif24	A	G	4: 41,395,085 (GRCm39)	V730A	probably benign	Het
L3mbtl2	T	C	15: 81,555,275 (GRCm39)	V176A	probably benign	Het
Lgi1	T	C	19: 38,294,733 (GRCm39)	Y502H	probably damaging	Het
Liph	T	A	16: 21,795,078 (GRCm39)	D178V	probably damaging	Het
Maea	T	C	5: 33,515,854 (GRCm39)	V47A	probably damaging	Het
Mak16	A	C	8: 31,656,602 (GRCm39)	S42A	probably benign	Het
Mamdc4	T	C	2: 25,458,977 (GRCm39)	I269V	probably benign	Het
Mapk8ip3	A	T	17: 25,120,728 (GRCm39)	M812K	probably benign	Het
Muc4	T	A	16: 32,752,788 (GRCm38)	S889T	unknown	Het
Npy6r	A	G	18: 44,409,551 (GRCm39)	N324S	probably damaging	Het
Ntrk3	T	G	7: 78,005,895 (GRCm39)	T489P	possibly damaging	Het
Or52a5b	G	A	7: 103,417,182 (GRCm39)	Q141*	probably null	Het
Or5h19	T	A	16: 58,856,296 (GRCm39)	D268V	probably benign	Het
Or5t17	G	A	2: 86,832,879 (GRCm39)	V189I	probably benign	Het
Otof	G	C	5: 30,540,878 (GRCm39)	T887S	possibly damaging	Het
Papola	T	C	12: 105,773,443 (GRCm39)	V154A	probably damaging	Het
Pde4dip	T	C	3: 97,622,946 (GRCm39)	H1421R	probably benign	Het
Plpp5	T	C	8: 26,210,606 (GRCm39)	S66P	probably benign	Het
Ppp6r3	T	A	19: 3,568,337 (GRCm39)	I154L	probably benign	Het
Prr18	A	C	17: 8,560,741 (GRCm39)	D299A	possibly damaging	Het
Psmb1	G	A	17: 15,697,521 (GRCm39)	S198F	possibly damaging	Het
Qars1	T	C	9: 108,392,322 (GRCm39)	V723A	possibly damaging	Het
Rab6a	A	T	7: 100,285,959 (GRCm39)	R185*	probably null	Het
Scn2a	C	T	2: 65,579,197 (GRCm39)	Q1511*	probably null	Het
Serpinb3d	T	A	1: 107,008,506 (GRCm39)	I120F	possibly damaging	Het
Serpini2	T	C	3: 75,165,455 (GRCm39)	T175A	probably damaging	Het
Skic2	T	C	17: 35,058,440 (GRCm39)	T1226A	probably benign	Het
Slc2a2	C	T	3: 28,773,631 (GRCm39)	A312V	possibly damaging	Het
Snx33	C	T	9: 56,833,151 (GRCm39)	R306H	probably damaging	Het
Spcs1	G	A	14: 30,722,438 (GRCm39)	S127F	possibly damaging	Het
Speg	T	C	1: 75,399,027 (GRCm39)	V2158A	possibly damaging	Het
Sptbn4	T	A	7: 27,117,481 (GRCm39)	I423F	probably damaging	Het
Synj2	T	A	17: 6,076,754 (GRCm39)	I930N	possibly damaging	Het
Tas2r140	T	A	6: 133,032,623 (GRCm39)	D45V	probably damaging	Het
Tcf3	C	A	10: 80,257,433 (GRCm39)	V11F	unknown	Het
Tead1	A	T	7: 112,441,144 (GRCm39)	Q91L	probably benign	Het
Tgm5	T	A	2: 120,916,249 (GRCm39)		probably benign	Het
Tgoln1	C	T	6: 72,593,028 (GRCm39)	G151S	probably benign	Het
Tnfrsf11a	C	A	1: 105,755,264 (GRCm39)	N445K	probably benign	Het
Ttn	G	C	2: 76,540,514 (GRCm39)	F34157L	probably benign	Het
Vmn2r91	C	A	17: 18,356,424 (GRCm39)	P697Q	probably damaging	Het
Zeb2	G	A	2: 44,887,006 (GRCm39)	L684F	probably damaging	Het
Zfp661	T	C	2: 127,419,456 (GRCm39)	D228G	probably benign	Het
Zfp738	T	C	13: 67,821,147 (GRCm39)	K77E	probably damaging	Het
Zkscan1	T	A	5: 138,099,192 (GRCm39)	D378E	probably damaging	Het
Zswim9	T	A	7: 12,993,924 (GRCm39)	D744V	possibly 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
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'- GGCCCAATAATGGTTGTTAATCAC -3'
(R):5'- AGGACAGGGTGTGCATTGTC -3'

Sequencing Primer
(F):5'- AAGTTGACCATGCTCCAGTG -3'
(R):5'- CATTCTCTTAACAAATGGATCGGG -3'

Posted On

2019-06-26