Mutagenetix > Incidental Mutations

Incidental Mutation 'R5141:Slc17a5'

453410

Institutional Source

Beutler Lab

Gene Symbol

Slc17a5

Ensembl Gene

ENSMUSG00000049624

Gene Name

solute carrier family 17 (anion/sugar transporter), member 5

Synonyms

4631416G20Rik

MMRRC Submission

042727-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.700) question?

Stock #

R5141 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78536488-78588041 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78540988 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 395 (Y395H)

Ref Sequence

ENSEMBL: ENSMUSP00000113003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052441] [ENSMUST00000117645]

Predicted Effect

probably damaging
Transcript: ENSMUST00000052441
AA Change: Y421H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056182
Gene: ENSMUSG00000049624
AA Change: Y421H

Domain	Start	End	E-Value	Type
Pfam:MFS_1	46	441	1.8e-61	PFAM
transmembrane domain	456	478	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117645
AA Change: Y395H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113003
Gene: ENSMUSG00000049624
AA Change: Y395H

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
Pfam:MFS_1	97	415	2.5e-50	PFAM
transmembrane domain	430	452	N/A	INTRINSIC

Meta Mutation Damage Score

0.2289

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (76/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit numerous neurological abnormalities, including impaired exploratory and locomotor activity, hearing deficits, and an increased depressive-like response. [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
Adamdec1	A	G	14: 68,573,128	V193A	probably benign	Het
Adamts18	T	A	8: 113,775,270	T320S	probably damaging	Het
Adamtsl1	G	T	4: 86,156,850	M151I	possibly damaging	Het
Adgrv1	A	T	13: 81,270,918	V5986E	probably damaging	Het
Aifm3	A	G	16: 17,499,722	E69G	probably damaging	Het
Akap13	C	A	7: 75,609,614	T662K	probably benign	Het
Alms1	A	G	6: 85,621,432	D1080G	probably benign	Het
Als2	T	C	1: 59,170,452	E1457G	possibly damaging	Het
Apobec4	A	G	1: 152,756,213		probably benign	Het
Apoo-ps	C	T	13: 107,414,395		noncoding transcript	Het
Aspscr1	G	A	11: 120,689,177	V181I	probably benign	Het
Atrn	T	C	2: 130,999,130		probably benign	Het
C3	T	A	17: 57,219,570	I804F	probably damaging	Het
Cbfa2t3	C	T	8: 122,635,021	G421R	probably benign	Het
Chmp4c	A	G	3: 10,367,153	E41G	probably damaging	Het
Clk4	T	A	11: 51,275,771	F96L	possibly damaging	Het
Ctsg	G	A	14: 56,101,727	R25*	probably null	Het
Cul1	A	G	6: 47,520,839	D618G	probably benign	Het
Cylc2	T	C	4: 51,228,587		probably benign	Het
Dip2a	G	A	10: 76,270,453	T1326I	probably damaging	Het
Etnk2	A	G	1: 133,368,862	I210V	probably benign	Het
Gm5773	T	A	3: 93,773,727	D235E	probably benign	Het
Gm7353	T	C	7: 3,111,001		noncoding transcript	Het
Gpi1	G	A	7: 34,227,096		probably benign	Het
Ing4	T	C	6: 125,039,874	M5T	probably benign	Het
Inpp4a	A	G	1: 37,380,087	I583V	probably benign	Het
Isyna1	T	C	8: 70,594,893	V64A	probably damaging	Het
Katnal2	T	A	18: 76,997,641	D310V	probably damaging	Het
Kbtbd8	A	G	6: 95,121,839	T126A	probably damaging	Het
Kif13a	T	C	13: 46,752,721	D582G	probably benign	Het
Lmf2	G	A	15: 89,351,607		probably null	Het
Lrp2	T	C	2: 69,552,349		probably null	Het
Lrp4	T	C	2: 91,478,678		probably benign	Het
Lyzl1	A	C	18: 4,169,209	D71A	possibly damaging	Het
Mak	C	T	13: 41,032,563	C543Y	possibly damaging	Het
Mapk8ip1	T	C	2: 92,386,765	D404G	probably damaging	Het
Mdga1	C	T	17: 29,852,493	E385K	probably benign	Het
Mst1r	T	A	9: 107,912,241	I573N	probably damaging	Het
Muc5ac	T	A	7: 141,814,742	N2365K	possibly damaging	Het
Ncan	T	C	8: 70,112,837	E179G	probably damaging	Het
Nlgn2	C	T	11: 69,825,390	R775H	probably damaging	Het
Olfr1228	A	C	2: 89,249,129	Y176*	probably null	Het
Olfr44	A	G	9: 39,484,531	F238L	probably damaging	Het
Olfr975	T	G	9: 39,949,874	K299T	probably benign	Het
Pcolce	G	T	5: 137,605,750	Q352K	probably benign	Het
Peg3	G	T	7: 6,709,382	T947N	probably benign	Het
Pld3	C	T	7: 27,533,795	D344N	probably damaging	Het
Plec	A	C	15: 76,190,533	D411E	probably damaging	Het
Pmp2	C	T	3: 10,182,414	D72N	probably benign	Het
Ptpn9	T	C	9: 57,036,676	V278A	possibly damaging	Het
Rbm33	A	G	5: 28,352,689	H300R	probably damaging	Het
Rpgrip1l	T	C	8: 91,260,918	Q837R	probably benign	Het
Rwdd4a	T	C	8: 47,550,674		probably benign	Het
Sema6a	T	C	18: 47,248,388	T1048A	probably damaging	Het
Senp1	G	A	15: 98,076,607	A108V	probably benign	Het
Serpine2	G	T	1: 79,802,863	Q290K	possibly damaging	Het
Sesn1	A	G	10: 41,811,101	N27S	probably benign	Het
Shroom1	T	A	11: 53,463,982	L243*	probably null	Het
Slc5a8	T	C	10: 88,919,560		probably null	Het
Sptbn5	G	A	2: 120,061,731	S1083F	probably benign	Het
Stx4a	T	A	7: 127,846,615	V231E	probably damaging	Het
Swt1	A	T	1: 151,411,394	S116T	probably benign	Het
Syt9	C	T	7: 107,504,219	T408I	probably damaging	Het
Tgm7	T	C	2: 121,100,999	T228A	probably benign	Het
Tmem115	A	G	9: 107,537,942	D310G	probably benign	Het
Trcg1	G	A	9: 57,241,304	G53D	probably damaging	Het
Tsfm	T	C	10: 127,029,613	K100E	probably damaging	Het
Usp1	A	G	4: 98,934,209	T587A	probably damaging	Het
Vcpip1	G	T	1: 9,748,077	A27E	unknown	Het
Vmn2r49	T	C	7: 9,986,373	N397S	probably benign	Het
Vmn2r8	A	G	5: 108,808,706	S17P	probably damaging	Het
Vwa3b	A	G	1: 37,187,021		probably benign	Het
Ythdc2	T	A	18: 44,865,047	S1094T	probably benign	Het
Zbtb22	C	G	17: 33,918,636	S585C	possibly damaging	Het
Zhx2	A	G	15: 57,821,786	T184A	probably benign	Het

Other mutations in Slc17a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Slc17a5	APN	9	78578534	missense	probably benign
IGL00828:Slc17a5	APN	9	78578551	missense	probably benign	0.37
IGL01603:Slc17a5	APN	9	78574707	missense	probably damaging	1.00
IGL01945:Slc17a5	APN	9	78587932	missense	probably benign	0.01
IGL03250:Slc17a5	APN	9	78578564	missense	probably damaging	0.99
PIT4618001:Slc17a5	UTSW	9	78538248	missense	possibly damaging	0.52
R0136:Slc17a5	UTSW	9	78578674	missense	probably damaging	1.00
R0245:Slc17a5	UTSW	9	78540924	missense	probably benign	0.00
R0305:Slc17a5	UTSW	9	78557537	missense	probably benign	0.25
R0481:Slc17a5	UTSW	9	78538302	splice site	probably null
R0657:Slc17a5	UTSW	9	78578674	missense	probably damaging	1.00
R0763:Slc17a5	UTSW	9	78553090	splice site	probably benign
R1543:Slc17a5	UTSW	9	78560800	missense	probably benign	0.01
R1564:Slc17a5	UTSW	9	78578699	missense	probably damaging	0.98
R2155:Slc17a5	UTSW	9	78577173	missense	probably damaging	1.00
R2483:Slc17a5	UTSW	9	78538274	missense	probably damaging	1.00
R3623:Slc17a5	UTSW	9	78538274	missense	probably damaging	1.00
R4193:Slc17a5	UTSW	9	78559106	missense	possibly damaging	0.58
R4794:Slc17a5	UTSW	9	78574715	missense	probably damaging	0.96
R5115:Slc17a5	UTSW	9	78577112	missense	probably benign	0.12
R5205:Slc17a5	UTSW	9	78578617	missense	probably damaging	1.00
R5953:Slc17a5	UTSW	9	78557498	missense	probably damaging	1.00
R6481:Slc17a5	UTSW	9	78538271	missense	possibly damaging	0.87
R7375:Slc17a5	UTSW	9	78587892	missense	probably benign	0.00
R8309:Slc17a5	UTSW	9	78571029	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCACAAAGAATTTCATAAAAGCCA -3'
(R):5'- ATTTCTTTGCTCAGGAATAGGTACC -3'

Sequencing Primer
(F):5'- GTTCCAGGACCTAGATAATGGCC -3'
(R):5'- GGAATAGGTACCCCCTGGACTTTATC -3'

Posted On

2017-02-03