Mutagenetix > Incidental Mutations

Incidental Mutation 'R4794:Slc17a5'

368861

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

042420-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.834) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78536488-78588041 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78574715 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 183 (H183L)

Ref Sequence

ENSEMBL: ENSMUSP00000056182 (fasta)

Gene Model

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

AlphaFold

Q8BN82

Predicted Effect

probably damaging
Transcript: ENSMUST00000052441
AA Change: H183L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056182
Gene: ENSMUSG00000049624
AA Change: H183L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117645
AA Change: H157L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113003
Gene: ENSMUSG00000049624
AA Change: H157L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119213

SMART Domains

Protein: ENSMUSP00000113340
Gene: ENSMUSG00000049624

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	43	175	4.9e-8	PFAM
Pfam:MFS_1	45	189	5.5e-16	PFAM

Meta Mutation Damage Score

0.6226

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,421,424	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,588,129	E537G	probably damaging	Het
Asic3	C	T	5: 24,415,897	A259V	probably damaging	Het
Bcar1	G	A	8: 111,720,920	Q142*	probably null	Het
Bcas3	T	C	11: 85,509,468	V200A	probably damaging	Het
Cd302	A	T	2: 60,272,149	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984	N387K	probably damaging	Het
Copa	T	A	1: 172,119,321	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,196,139	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,194,485	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,503,992	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,885,337	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,870,177	Y114F	probably benign	Het
Epm2a	A	G	10: 11,390,853	D114G	probably benign	Het
Exoc5	T	C	14: 49,048,900		probably null	Het
Fam135a	G	A	1: 24,029,160	T706I	probably benign	Het
Fasn	A	G	11: 120,811,295	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,596	E255G	probably damaging	Het
Galnt7	A	T	8: 57,545,363	Y311N	probably damaging	Het
Gm13757	A	T	2: 88,446,347	M197K	probably benign	Het
Gm5724	A	G	6: 141,767,562	V31A	probably benign	Het
Gm8765	C	G	13: 50,703,239	P971R	probably benign	Het
Grid1	T	C	14: 34,822,622	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933	F331L	probably damaging	Het
Ikbkap	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176		probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kif1a	T	C	1: 93,025,727	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,756,679	F1022L	probably damaging	Het
Med16	G	T	10: 79,900,117	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,645,506		probably benign	Het
Myh7b	G	A	2: 155,623,266	V681I	probably benign	Het
Ndc1	A	G	4: 107,390,222	E409G	probably benign	Het
Necap2	A	G	4: 141,071,601		probably benign	Het
Olfr47	T	A	6: 43,235,695	L29H	probably damaging	Het
Olfr847	C	T	9: 19,375,545	S112N	probably benign	Het
Parp12	G	A	6: 39,117,810	T117I	probably benign	Het
Pars2	C	A	4: 106,654,210	C396*	probably null	Het
Prg4	A	T	1: 150,454,546		probably benign	Het
Prkg2	G	A	5: 98,966,633	T523I	probably damaging	Het
Prph	T	A	15: 99,057,427	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,414,076	Y549H	probably damaging	Het
Rbm12	A	T	2: 156,095,569		probably benign	Het
Reln	T	C	5: 22,344,185	Y75C	probably damaging	Het
Rock2	G	A	12: 16,940,407	R110H	probably damaging	Het
Samd1	G	A	8: 83,999,717	E468K	probably damaging	Het
Samd11	T	A	4: 156,249,465	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,365,726	G37V	probably damaging	Het
Sf1	C	A	19: 6,375,664		probably benign	Het
Smgc	T	A	15: 91,841,454	S13T	probably benign	Het
Snapin	A	G	3: 90,490,785		probably benign	Het
Ssc5d	C	T	7: 4,943,745	P1033S	probably benign	Het
Strn3	T	C	12: 51,650,171	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,196,836	F238L	possibly damaging	Het
Tbck	G	A	3: 132,686,968	V57M	possibly damaging	Het
Tgm3	A	G	2: 130,041,955	D511G	probably benign	Het
Tlr5	T	C	1: 182,973,896	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,620,355		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,358,084	C168Y	probably damaging	Het
Tph2	G	T	10: 115,182,770	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,661,690		probably null	Het
Ttc14	A	T	3: 33,803,149	M215L	probably benign	Het
Ube3c	A	G	5: 29,597,085	N120S	probably benign	Het
Ubr2	A	T	17: 46,930,445	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,900,704	T318A	probably benign	Het
Washc2	T	C	6: 116,258,649	V941A	probably benign	Het
Wdfy3	A	G	5: 101,943,943	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,862,844	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,637,635	D537A	probably benign	Het
Zfp57	A	G	17: 37,010,130	N292S	possibly damaging	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
R5115:Slc17a5	UTSW	9	78577112	missense	probably benign	0.12
R5141:Slc17a5	UTSW	9	78540988	missense	probably damaging	1.00
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
R8720:Slc17a5	UTSW	9	78578663	missense	probably damaging	0.98
R9286:Slc17a5	UTSW	9	78538284	missense	probably damaging	1.00
R9425:Slc17a5	UTSW	9	78577175	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTTCTCCCAGGAAGAGGC -3'
(R):5'- TTCCTACTGCTGTCACAGAGGG -3'

Sequencing Primer
(F):5'- GGAAGAGGCACCCACACTATC -3'
(R):5'- GGGCCACTGCACTTTTTAATAG -3'

Posted On

2016-02-04