Mutagenetix > Incidental Mutation

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

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R5141 (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 78448270 bp (GRCm39)

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]

AlphaFold

Q8BN82

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: 68,810,577 (GRCm39)	V193A	probably benign	Het
Adamts18	T	A	8: 114,501,902 (GRCm39)	T320S	probably damaging	Het
Adamtsl1	G	T	4: 86,075,087 (GRCm39)	M151I	possibly damaging	Het
Adgrv1	A	T	13: 81,419,037 (GRCm39)	V5986E	probably damaging	Het
Aifm3	A	G	16: 17,317,586 (GRCm39)	E69G	probably damaging	Het
Akap13	C	A	7: 75,259,362 (GRCm39)	T662K	probably benign	Het
Alms1	A	G	6: 85,598,414 (GRCm39)	D1080G	probably benign	Het
Als2	T	C	1: 59,209,611 (GRCm39)	E1457G	possibly damaging	Het
Apobec4	A	G	1: 152,631,964 (GRCm39)		probably benign	Het
Apoo-ps	C	T	13: 107,550,895 (GRCm39)		noncoding transcript	Het
Aspscr1	G	A	11: 120,580,003 (GRCm39)	V181I	probably benign	Het
Atrn	T	C	2: 130,841,050 (GRCm39)		probably benign	Het
C3	T	A	17: 57,526,570 (GRCm39)	I804F	probably damaging	Het
Cbfa2t3	C	T	8: 123,361,760 (GRCm39)	G421R	probably benign	Het
Chmp4c	A	G	3: 10,432,213 (GRCm39)	E41G	probably damaging	Het
Clk4	T	A	11: 51,166,598 (GRCm39)	F96L	possibly damaging	Het
Ctsg	G	A	14: 56,339,184 (GRCm39)	R25*	probably null	Het
Cul1	A	G	6: 47,497,773 (GRCm39)	D618G	probably benign	Het
Cylc2	T	C	4: 51,228,587 (GRCm39)		probably benign	Het
Dip2a	G	A	10: 76,106,287 (GRCm39)	T1326I	probably damaging	Het
Etnk2	A	G	1: 133,296,600 (GRCm39)	I210V	probably benign	Het
Gm5773	T	A	3: 93,681,034 (GRCm39)	D235E	probably benign	Het
Gm7353	T	C	7: 3,161,001 (GRCm39)		noncoding transcript	Het
Gpi1	G	A	7: 33,926,521 (GRCm39)		probably benign	Het
Ing4	T	C	6: 125,016,837 (GRCm39)	M5T	probably benign	Het
Inpp4a	A	G	1: 37,419,168 (GRCm39)	I583V	probably benign	Het
Isyna1	T	C	8: 71,047,543 (GRCm39)	V64A	probably damaging	Het
Katnal2	T	A	18: 77,085,337 (GRCm39)	D310V	probably damaging	Het
Kbtbd8	A	G	6: 95,098,820 (GRCm39)	T126A	probably damaging	Het
Kif13a	T	C	13: 46,906,197 (GRCm39)	D582G	probably benign	Het
Lmf2	G	A	15: 89,235,810 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,382,693 (GRCm39)		probably null	Het
Lrp4	T	C	2: 91,309,023 (GRCm39)		probably benign	Het
Lyzl1	A	C	18: 4,169,209 (GRCm39)	D71A	possibly damaging	Het
Mak	C	T	13: 41,186,039 (GRCm39)	C543Y	possibly damaging	Het
Mapk8ip1	T	C	2: 92,217,110 (GRCm39)	D404G	probably damaging	Het
Mdga1	C	T	17: 30,071,467 (GRCm39)	E385K	probably benign	Het
Mst1r	T	A	9: 107,789,440 (GRCm39)	I573N	probably damaging	Het
Muc5ac	T	A	7: 141,368,479 (GRCm39)	N2365K	possibly damaging	Het
Ncan	T	C	8: 70,565,487 (GRCm39)	E179G	probably damaging	Het
Nlgn2	C	T	11: 69,716,216 (GRCm39)	R775H	probably damaging	Het
Or10d5	T	G	9: 39,861,170 (GRCm39)	K299T	probably benign	Het
Or4c122	A	C	2: 89,079,473 (GRCm39)	Y176*	probably null	Het
Or8g20	A	G	9: 39,395,827 (GRCm39)	F238L	probably damaging	Het
Pcolce	G	T	5: 137,604,012 (GRCm39)	Q352K	probably benign	Het
Peg3	G	T	7: 6,712,381 (GRCm39)	T947N	probably benign	Het
Pld3	C	T	7: 27,233,220 (GRCm39)	D344N	probably damaging	Het
Plec	A	C	15: 76,074,733 (GRCm39)	D411E	probably damaging	Het
Pmp2	C	T	3: 10,247,474 (GRCm39)	D72N	probably benign	Het
Ptpn9	T	C	9: 56,943,960 (GRCm39)	V278A	possibly damaging	Het
Rbm33	A	G	5: 28,557,687 (GRCm39)	H300R	probably damaging	Het
Rpgrip1l	T	C	8: 91,987,546 (GRCm39)	Q837R	probably benign	Het
Rwdd4a	T	C	8: 48,003,709 (GRCm39)		probably benign	Het
Sema6a	T	C	18: 47,381,455 (GRCm39)	T1048A	probably damaging	Het
Senp1	G	A	15: 97,974,488 (GRCm39)	A108V	probably benign	Het
Serpine2	G	T	1: 79,780,580 (GRCm39)	Q290K	possibly damaging	Het
Sesn1	A	G	10: 41,687,097 (GRCm39)	N27S	probably benign	Het
Shroom1	T	A	11: 53,354,809 (GRCm39)	L243*	probably null	Het
Slc5a8	T	C	10: 88,755,422 (GRCm39)		probably null	Het
Sptbn5	G	A	2: 119,892,212 (GRCm39)	S1083F	probably benign	Het
Stx4a	T	A	7: 127,445,787 (GRCm39)	V231E	probably damaging	Het
Swt1	A	T	1: 151,287,145 (GRCm39)	S116T	probably benign	Het
Syt9	C	T	7: 107,103,426 (GRCm39)	T408I	probably damaging	Het
Tgm7	T	C	2: 120,931,480 (GRCm39)	T228A	probably benign	Het
Tmem115	A	G	9: 107,415,141 (GRCm39)	D310G	probably benign	Het
Trcg1	G	A	9: 57,148,587 (GRCm39)	G53D	probably damaging	Het
Tsfm	T	C	10: 126,865,482 (GRCm39)	K100E	probably damaging	Het
Usp1	A	G	4: 98,822,446 (GRCm39)	T587A	probably damaging	Het
Vcpip1	G	T	1: 9,818,302 (GRCm39)	A27E	unknown	Het
Vmn2r49	T	C	7: 9,720,300 (GRCm39)	N397S	probably benign	Het
Vmn2r8	A	G	5: 108,956,572 (GRCm39)	S17P	probably damaging	Het
Vwa3b	A	G	1: 37,226,102 (GRCm39)		probably benign	Het
Ythdc2	T	A	18: 44,998,114 (GRCm39)	S1094T	probably benign	Het
Zbtb22	C	G	17: 34,137,610 (GRCm39)	S585C	possibly damaging	Het
Zhx2	A	G	15: 57,685,182 (GRCm39)	T184A	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
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
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'- TGTCACAAAGAATTTCATAAAAGCCA -3'
(R):5'- ATTTCTTTGCTCAGGAATAGGTACC -3'

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

Posted On

2017-02-03