Mutagenetix > Incidental Mutation

Incidental Mutation 'R0305:Slc17a5'

24902

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

038516-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.705) question?

Stock #

R0305 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78443770-78495323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78464819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 344 (L344P)

Ref Sequence

ENSEMBL: ENSMUSP00000056182 (fasta)

Gene Model

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

AlphaFold

Q8BN82

Predicted Effect

probably benign
Transcript: ENSMUST00000052441
AA Change: L344P

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056182
Gene: ENSMUSG00000049624
AA Change: L344P

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 benign
Transcript: ENSMUST00000117645
AA Change: L318P

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113003
Gene: ENSMUSG00000049624
AA Change: L318P

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

0.2867

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 91.2%

Validation Efficiency

100% (59/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	G	A	7: 27,274,061 (GRCm39)	R183Q	probably damaging	Het
Abca5	A	G	11: 110,164,137 (GRCm39)		probably benign	Het
Ada	T	C	2: 163,570,077 (GRCm39)	K312R	probably benign	Het
Adam21	C	A	12: 81,607,059 (GRCm39)	K234N	possibly damaging	Het
Afdn	T	A	17: 14,108,776 (GRCm39)		probably null	Het
Aimp1	T	G	3: 132,379,747 (GRCm39)	K132Q	possibly damaging	Het
Aldh16a1	C	T	7: 44,797,403 (GRCm39)	R135Q	probably damaging	Het
Alox12b	A	T	11: 69,058,205 (GRCm39)	Y519F	probably benign	Het
Alppl2	T	C	1: 87,017,324 (GRCm39)	E25G	probably benign	Het
Apob	A	T	12: 8,062,210 (GRCm39)	N3531I	probably damaging	Het
Arhgap23	T	C	11: 97,391,935 (GRCm39)	L321P	probably damaging	Het
Cab39l	C	T	14: 59,757,028 (GRCm39)	Q137*	probably null	Het
Cenpo	A	T	12: 4,266,660 (GRCm39)	H149Q	possibly damaging	Het
Cpt1a	A	G	19: 3,428,455 (GRCm39)	T610A	probably benign	Het
Dcbld2	A	G	16: 58,269,302 (GRCm39)	T271A	probably damaging	Het
Dcps	A	G	9: 35,087,065 (GRCm39)		probably null	Het
Dnai2	A	G	11: 114,643,720 (GRCm39)	D462G	probably benign	Het
Dsg2	T	A	18: 20,715,752 (GRCm39)		probably benign	Het
Eomes	A	T	9: 118,313,825 (GRCm39)	E623D	probably benign	Het
Fras1	A	T	5: 96,744,747 (GRCm39)	H594L	probably benign	Het
Gad1-ps	T	G	10: 99,280,665 (GRCm39)		noncoding transcript	Het
Galk2	A	G	2: 125,729,808 (GRCm39)	Y63C	probably damaging	Het
H2-T10	A	G	17: 36,430,260 (GRCm39)	L227P	probably damaging	Het
Itgb4	T	G	11: 115,870,238 (GRCm39)	C73G	probably damaging	Het
Itpr2	T	C	6: 146,212,601 (GRCm39)	H1472R	possibly damaging	Het
Kcnh5	C	T	12: 75,161,171 (GRCm39)	A246T	probably benign	Het
Kpna6	G	T	4: 129,543,042 (GRCm39)	R458S	probably benign	Het
Lifr	A	G	15: 7,206,982 (GRCm39)	T498A	probably damaging	Het
Lrrd1	T	G	5: 3,915,707 (GRCm39)	I768S	probably damaging	Het
Map2	T	C	1: 66,452,253 (GRCm39)	V223A	probably benign	Het
Nod2	G	A	8: 89,391,951 (GRCm39)	A731T	probably damaging	Het
Nrxn2	G	A	19: 6,569,313 (GRCm39)	C1403Y	probably damaging	Het
Nxph1	A	T	6: 9,247,754 (GRCm39)	I242F	probably damaging	Het
Or5p79	G	A	7: 108,221,792 (GRCm39)	V258I	probably benign	Het
Pgr	A	G	9: 8,902,088 (GRCm39)		probably benign	Het
Pik3cb	A	G	9: 98,946,129 (GRCm39)	S566P	possibly damaging	Het
Sema4d	T	C	13: 51,866,764 (GRCm39)	Y242C	probably damaging	Het
Sftpc	T	A	14: 70,761,518 (GRCm39)		probably benign	Het
Sh3tc1	T	G	5: 35,881,343 (GRCm39)	E33D	probably benign	Het
Slc39a5	T	A	10: 128,234,265 (GRCm39)		probably benign	Het
Slc7a13	C	A	4: 19,839,401 (GRCm39)	H335N	probably benign	Het
Slco1a4	A	C	6: 141,763,479 (GRCm39)	N412K	possibly damaging	Het
Sox1	A	T	8: 12,446,736 (GRCm39)	T126S	probably damaging	Het
Specc1l	T	A	10: 75,081,663 (GRCm39)	V353E	probably damaging	Het
Stat5b	T	C	11: 100,693,329 (GRCm39)	E104G	probably benign	Het
Sult4a1	A	G	15: 83,970,868 (GRCm39)	V179A	probably damaging	Het
Tafa5	T	A	15: 87,604,709 (GRCm39)	I83N	probably damaging	Het
Tbl3	G	A	17: 24,924,435 (GRCm39)	R134C	probably damaging	Het
Tmem256	T	A	11: 69,729,737 (GRCm39)		probably benign	Het
Tmigd1	A	G	11: 76,797,960 (GRCm39)	T101A	probably damaging	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Unc79	T	A	12: 103,079,459 (GRCm39)	S1679T	probably benign	Het
Vmn2r1	T	G	3: 63,997,087 (GRCm39)	C248G	probably damaging	Het
Vmn2r57	T	C	7: 41,076,967 (GRCm39)	I400V	probably benign	Het
Vwa8	T	A	14: 79,246,713 (GRCm39)	L685H	probably damaging	Het
Yeats4	A	G	10: 117,051,741 (GRCm39)	F172S	probably damaging	Het
Zfpm2	T	G	15: 40,637,431 (GRCm39)		probably benign	Het

Other mutations in Slc17a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Slc17a5	APN	9	78,485,816 (GRCm39)	missense	probably benign
IGL00828:Slc17a5	APN	9	78,485,833 (GRCm39)	missense	probably benign	0.37
IGL01603:Slc17a5	APN	9	78,481,989 (GRCm39)	missense	probably damaging	1.00
IGL01945:Slc17a5	APN	9	78,495,214 (GRCm39)	missense	probably benign	0.01
IGL03250:Slc17a5	APN	9	78,485,846 (GRCm39)	missense	probably damaging	0.99
PIT4618001:Slc17a5	UTSW	9	78,445,530 (GRCm39)	missense	possibly damaging	0.52
R0136:Slc17a5	UTSW	9	78,485,956 (GRCm39)	missense	probably damaging	1.00
R0245:Slc17a5	UTSW	9	78,448,206 (GRCm39)	missense	probably benign	0.00
R0481:Slc17a5	UTSW	9	78,445,584 (GRCm39)	splice site	probably null
R0657:Slc17a5	UTSW	9	78,485,956 (GRCm39)	missense	probably damaging	1.00
R0763:Slc17a5	UTSW	9	78,460,372 (GRCm39)	splice site	probably benign
R1543:Slc17a5	UTSW	9	78,468,082 (GRCm39)	missense	probably benign	0.01
R1564:Slc17a5	UTSW	9	78,485,981 (GRCm39)	missense	probably damaging	0.98
R2155:Slc17a5	UTSW	9	78,484,455 (GRCm39)	missense	probably damaging	1.00
R2483:Slc17a5	UTSW	9	78,445,556 (GRCm39)	missense	probably damaging	1.00
R3623:Slc17a5	UTSW	9	78,445,556 (GRCm39)	missense	probably damaging	1.00
R4193:Slc17a5	UTSW	9	78,466,388 (GRCm39)	missense	possibly damaging	0.58
R4794:Slc17a5	UTSW	9	78,481,997 (GRCm39)	missense	probably damaging	0.96
R5115:Slc17a5	UTSW	9	78,484,394 (GRCm39)	missense	probably benign	0.12
R5141:Slc17a5	UTSW	9	78,448,270 (GRCm39)	missense	probably damaging	1.00
R5205:Slc17a5	UTSW	9	78,485,899 (GRCm39)	missense	probably damaging	1.00
R5953:Slc17a5	UTSW	9	78,464,780 (GRCm39)	missense	probably damaging	1.00
R6481:Slc17a5	UTSW	9	78,445,553 (GRCm39)	missense	possibly damaging	0.87
R7375:Slc17a5	UTSW	9	78,495,174 (GRCm39)	missense	probably benign	0.00
R8309:Slc17a5	UTSW	9	78,478,311 (GRCm39)	nonsense	probably null
R8720:Slc17a5	UTSW	9	78,485,945 (GRCm39)	missense	probably damaging	0.98
R9286:Slc17a5	UTSW	9	78,445,566 (GRCm39)	missense	probably damaging	1.00
R9425:Slc17a5	UTSW	9	78,484,457 (GRCm39)	missense	probably damaging	1.00
R9567:Slc17a5	UTSW	9	78,445,562 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CCATTTTCATGACCAGAGACAAAGGGG -3'
(R):5'- AGACCTGGAGCAGGCAGTATGT -3'

Sequencing Primer
(F):5'- GACAAAGGGGTTTAGAGTGTTATG -3'
(R):5'- AGCAGGCAGTATGTTTCCC -3'

Posted On

2013-04-16