Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01624:Slc17a2'

92652

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc17a2

Ensembl Gene

ENSMUSG00000036110

Gene Name

solute carrier family 17 (sodium phosphate), member 2

Synonyms

NPT3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL01624

Quality Score

Status

Chromosome

Chromosomal Location

23806993-23825180 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23814986 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 121 (I121V)

Ref Sequence

ENSEMBL: ENSMUSP00000097288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006786] [ENSMUST00000099697]

AlphaFold

Q5SZA1

Predicted Effect

probably benign
Transcript: ENSMUST00000006786
AA Change: I121V

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

SMART Domains

Protein: ENSMUSP00000006786
Gene: ENSMUSG00000036110
AA Change: I121V

Domain	Start	End	E-Value	Type
Pfam:MFS_1	19	425	3.5e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099697
AA Change: I121V

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

SMART Domains

Protein: ENSMUSP00000097288
Gene: ENSMUSG00000036110
AA Change: I121V

Domain	Start	End	E-Value	Type
Pfam:MFS_1	19	425	2.9e-45	PFAM
transmembrane domain	443	462	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141717

Meta Mutation Damage Score

0.0898

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,193,086	T18I	probably damaging	Het
Acod1	A	G	14: 103,055,233	T398A	probably benign	Het
Adgrl2	A	G	3: 148,836,527	V853A	probably damaging	Het
Ankhd1	T	C	18: 36,658,013	S2488P	probably damaging	Het
Ankrd28	T	C	14: 31,710,857	I578V	probably benign	Het
Atp2c2	A	C	8: 119,757,450	R933S	probably benign	Het
Cyp26a1	A	T	19: 37,698,333	I78F	possibly damaging	Het
Gck	A	G	11: 5,903,106	V338A	possibly damaging	Het
Ints6	A	T	14: 62,696,871	M729K	probably benign	Het
Kank2	C	A	9: 21,780,380	G500W	probably damaging	Het
Kansl1	G	A	11: 104,424,552	T220I	probably benign	Het
Lgi4	T	C	7: 31,067,688	L380P	probably damaging	Het
Lhx9	G	T	1: 138,832,783	Y276*	probably null	Het
Lipm	T	A	19: 34,121,145	Y340N	probably damaging	Het
Mlxip	A	G	5: 123,395,329	T134A	probably benign	Het
Nwd2	A	T	5: 63,806,810	I1246F	probably damaging	Het
Olfr1099	A	G	2: 86,959,230	V76A	probably benign	Het
Olfr114	A	T	17: 37,589,925	W143R	probably benign	Het
Olfr822	T	A	10: 130,074,650	L80H	probably damaging	Het
Rbm44	T	A	1: 91,156,658	N601K	probably damaging	Het
Rgs4	T	A	1: 169,744,478	Y84F	probably benign	Het
Scn7a	T	C	2: 66,751,925	T131A	probably benign	Het
Slitrk5	T	A	14: 111,681,094	Y717N	probably damaging	Het
Sox6	A	G	7: 115,476,968	S770P	probably damaging	Het
Spata31	T	C	13: 64,921,585	W516R	probably damaging	Het
Sugt1	A	G	14: 79,596,790	N77S	probably benign	Het
Sumf1	C	T	6: 108,153,201	D186N	probably damaging	Het
Syde2	T	C	3: 146,007,035	L709S	probably damaging	Het
Tcp1	T	A	17: 12,919,925	I163K	probably benign	Het
Upf2	A	T	2: 6,034,179	E287D	probably benign	Het
Usp17lb	A	G	7: 104,842,513		probably benign	Het
Vmn2r10	G	A	5: 109,006,246	S64F	possibly damaging	Het

Other mutations in Slc17a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Slc17a2	APN	13	23819334	missense	probably benign	0.13
IGL01511:Slc17a2	APN	13	23819138	critical splice donor site	probably null
IGL01839:Slc17a2	APN	13	23812685	missense	possibly damaging	0.91
IGL02010:Slc17a2	APN	13	23819042	missense	probably benign	0.00
IGL03299:Slc17a2	APN	13	23821111	critical splice donor site	probably null
R7808_slc17a2_962	UTSW	13	23819334	missense	probably damaging	0.99
R0622:Slc17a2	UTSW	13	23812611	missense	probably damaging	1.00
R1104:Slc17a2	UTSW	13	23819937	missense	probably damaging	0.99
R1530:Slc17a2	UTSW	13	23819069	missense	probably damaging	1.00
R1682:Slc17a2	UTSW	13	23812640	missense	probably damaging	0.96
R2255:Slc17a2	UTSW	13	23821008	missense	probably benign	0.09
R4923:Slc17a2	UTSW	13	23819095	missense	probably benign	0.20
R5193:Slc17a2	UTSW	13	23819862	critical splice acceptor site	probably null
R5321:Slc17a2	UTSW	13	23812631	missense	possibly damaging	0.95
R5334:Slc17a2	UTSW	13	23819051	missense	probably damaging	0.97
R5377:Slc17a2	UTSW	13	23812592	missense	probably damaging	1.00
R6165:Slc17a2	UTSW	13	23815070	missense	probably benign	0.00
R6280:Slc17a2	UTSW	13	23822394	missense	probably benign
R6311:Slc17a2	UTSW	13	23815022	missense	probably benign	0.40
R6323:Slc17a2	UTSW	13	23814986	missense	probably benign	0.00
R6476:Slc17a2	UTSW	13	23812586	missense	probably damaging	1.00
R6814:Slc17a2	UTSW	13	23822389	missense	possibly damaging	0.55
R7155:Slc17a2	UTSW	13	23822407	missense	probably benign	0.21
R7188:Slc17a2	UTSW	13	23822365	missense	probably damaging	1.00
R7288:Slc17a2	UTSW	13	23819112	missense	probably benign	0.09
R7462:Slc17a2	UTSW	13	23822418	missense	probably damaging	1.00
R7808:Slc17a2	UTSW	13	23819334	missense	probably damaging	0.99
R7937:Slc17a2	UTSW	13	23812665	missense	probably benign
R8444:Slc17a2	UTSW	13	23819078	missense	probably benign	0.00
R8447:Slc17a2	UTSW	13	23822326	missense	possibly damaging	0.50
R8932:Slc17a2	UTSW	13	23820201	missense	probably benign	0.00

Posted On

2013-12-09