Mutagenetix > Incidental Mutation

Incidental Mutation 'R3623:Slc17a5'

268738

Institutional Source

Beutler Lab

Gene Symbol

Slc17a5

Ensembl Gene

ENSMUSG00000049624

Gene Name

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

Synonyms

4631416G20Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.705) question?

Stock #

R3623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78443770-78495323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78445556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 433 (V433D)

Ref Sequence

ENSEMBL: ENSMUSP00000113003 (fasta)

Gene Model

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

AlphaFold

Q8BN82

Predicted Effect

probably damaging
Transcript: ENSMUST00000052441
AA Change: V459D

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

SMART Domains

Protein: ENSMUSP00000056182
Gene: ENSMUSG00000049624
AA Change: V459D

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: V433D

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

SMART Domains

Protein: ENSMUSP00000113003
Gene: ENSMUSG00000049624
AA Change: V433D

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (69/69)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,331,968 (GRCm39)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Becn2	T	C	1: 175,748,197 (GRCm39)	C88R	possibly damaging	Het
Bscl2	T	A	19: 8,818,514 (GRCm39)	C40S	probably benign	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Camk2g	G	A	14: 20,805,775 (GRCm39)		probably benign	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cep135	G	A	5: 76,772,586 (GRCm39)	G657D	probably benign	Het
Coch	A	G	12: 51,649,609 (GRCm39)	I307V	probably benign	Het
D17H6S53E	A	G	17: 35,346,512 (GRCm39)	E141G	probably benign	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Ephx1	A	G	1: 180,817,498 (GRCm39)	I391T	probably benign	Het
Fcgbp	A	G	7: 27,800,701 (GRCm39)	Y1249C	probably damaging	Het
Gm5592	T	C	7: 40,807,052 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,629 (GRCm39)	N149S	probably benign	Het
Greb1l	T	A	18: 10,542,380 (GRCm39)	I1325N	probably damaging	Het
H2-T3	T	C	17: 36,500,957 (GRCm39)	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Irs2	C	T	8: 11,057,643 (GRCm39)	G263D	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Mdfic	T	A	6: 15,770,319 (GRCm39)	N108K	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Mettl21e	T	A	1: 44,245,857 (GRCm39)	I130F	probably damaging	Het
Mlh3	C	T	12: 85,315,169 (GRCm39)	C339Y	probably damaging	Het
Mog	T	C	17: 37,323,338 (GRCm39)	H200R	possibly damaging	Het
Msrb3	C	T	10: 120,620,103 (GRCm39)	R72H	probably damaging	Het
Mtmr11	A	G	3: 96,072,583 (GRCm39)	H324R	probably damaging	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Nadk2	T	A	15: 9,084,303 (GRCm39)	W139R	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nr1i2	A	G	16: 38,086,269 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,152,835 (GRCm39)	T392A	probably damaging	Het
Or14a259	A	G	7: 86,013,308 (GRCm39)	F79S	probably benign	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcnt	T	A	10: 76,269,584 (GRCm39)	E228V	probably benign	Het
Phka2	T	A	X: 159,327,291 (GRCm39)	Y334*	probably null	Het
Pkhd1l1	A	T	15: 44,390,265 (GRCm39)	K1460N	probably damaging	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Rspry1	A	G	8: 95,376,405 (GRCm39)	D309G	probably damaging	Het
Scap	A	G	9: 110,209,271 (GRCm39)	Y648C	probably damaging	Het
Sgcz	T	C	8: 38,420,201 (GRCm39)	E17G	probably damaging	Het
Smad9	C	T	3: 54,696,705 (GRCm39)	R257W	probably damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Strn3	T	C	12: 51,707,999 (GRCm39)	Y132C	possibly damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tasor2	T	C	13: 3,645,556 (GRCm39)	T98A	probably benign	Het
Thbd	A	G	2: 148,248,893 (GRCm39)	V325A	probably damaging	Het
Trpd52l3	T	A	19: 29,981,333 (GRCm39)	C29*	probably null	Het
Trpm1	A	G	7: 63,894,601 (GRCm39)	Y951C	probably damaging	Het
Ube3a	T	A	7: 58,921,860 (GRCm39)	N77K	probably damaging	Het
Upp2	G	A	2: 58,680,128 (GRCm39)	R300Q	possibly damaging	Het
Usp35	T	C	7: 96,961,827 (GRCm39)	H533R	probably damaging	Het
Veph1	C	T	3: 66,122,858 (GRCm39)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Zap70	C	T	1: 36,818,216 (GRCm39)	T301I	probably benign	Het
Zfp341	A	G	2: 154,466,801 (GRCm39)	K57E	probably damaging	Het
Zfp60	T	A	7: 27,448,753 (GRCm39)	F474I	probably benign	Het
Zfp786	T	C	6: 47,798,357 (GRCm39)	N194D	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
R0305:Slc17a5	UTSW	9	78,464,819 (GRCm39)	missense	probably benign	0.25
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
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'- GCTTGCACATTCAAATACCAAAGG -3'
(R):5'- TCCTGTCATGGAGCAGAACAC -3'

Sequencing Primer
(F):5'- CAAAGGCACTTTCAGTTTCC -3'
(R):5'- GCTGGACTGAAGAATCTCTCCTCAG -3'

Posted On

2015-02-19