Mutagenetix > Incidental Mutation

Incidental Mutation 'R4193:Slc17a5'

318419

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

041024-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.780) question?

Stock #

R4193 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78443770-78495323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78466388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 269 (V269L)

Ref Sequence

ENSEMBL: ENSMUSP00000113003 (fasta)

Gene Model

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

AlphaFold

Q8BN82

Predicted Effect

probably benign
Transcript: ENSMUST00000052441
AA Change: V295L

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000056182
Gene: ENSMUSG00000049624
AA Change: V295L

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: V269L

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113003
Gene: ENSMUSG00000049624
AA Change: V269L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	T	14: 35,818,536 (GRCm39)	R178L	possibly damaging	Het
Abcb1a	G	A	5: 8,765,068 (GRCm39)		probably null	Het
Acap3	A	G	4: 155,986,234 (GRCm39)	T285A	probably benign	Het
Adam20	A	T	8: 41,248,352 (GRCm39)	N154I	probably damaging	Het
Adamts8	A	T	9: 30,870,604 (GRCm39)	D693V	probably damaging	Het
Ak9	A	G	10: 41,211,941 (GRCm39)	H226R	probably benign	Het
Atp6v1b1	A	G	6: 83,720,085 (GRCm39)	S7G	probably benign	Het
Atxn7l3b	C	A	10: 112,764,610 (GRCm39)	L6F	probably damaging	Het
Bco1	C	T	8: 117,840,208 (GRCm39)	T242M	probably damaging	Het
Btla	A	G	16: 45,070,845 (GRCm39)	N268S	probably benign	Het
Capn9	A	G	8: 125,327,225 (GRCm39)	S292G	probably null	Het
Cdhr18	C	T	14: 13,914,416 (GRCm38)	V9I	probably benign	Het
Col7a1	G	A	9: 108,785,740 (GRCm39)	S403N	unknown	Het
Ctps1	A	G	4: 120,405,335 (GRCm39)	V369A	probably damaging	Het
Ddx19b	A	T	8: 111,737,980 (GRCm39)	L256Q	probably damaging	Het
Dnah7a	T	C	1: 53,486,493 (GRCm39)	K3356R	probably benign	Het
Dpf2	G	A	19: 5,957,044 (GRCm39)	R60*	probably null	Het
Eif3h	A	T	15: 51,662,695 (GRCm39)	V117E	probably damaging	Het
Fam234a	A	T	17: 26,432,834 (GRCm39)	L467Q	probably damaging	Het
Fez1	T	A	9: 36,755,023 (GRCm39)	S7R	probably damaging	Het
Fh1	T	A	1: 175,442,407 (GRCm39)	M148L	possibly damaging	Het
Gabra2	G	A	5: 71,165,341 (GRCm39)	P210S	probably benign	Het
Gfm1	T	G	3: 67,339,053 (GRCm39)	I52S	probably damaging	Het
Gm6729	A	T	10: 86,376,483 (GRCm39)		noncoding transcript	Het
Gpr152	T	G	19: 4,192,906 (GRCm39)	L149R	probably damaging	Het
H2bc27	T	A	11: 58,840,067 (GRCm39)	L101Q	probably damaging	Het
Ifnar2	A	T	16: 91,201,232 (GRCm39)	D491V	probably damaging	Het
Igkv14-126	T	C	6: 67,873,367 (GRCm39)	S32P	possibly damaging	Het
Il1rl2	A	G	1: 40,404,208 (GRCm39)	E443G	probably damaging	Het
Impg2	A	G	16: 56,088,774 (GRCm39)	D1100G	probably benign	Het
Itga2	G	A	13: 115,023,185 (GRCm39)	R56*	probably null	Het
Itga2b	A	G	11: 102,360,511 (GRCm39)	S10P	probably benign	Het
Jmjd1c	C	T	10: 66,932,460 (GRCm39)		probably benign	Het
Kdm7a	T	G	6: 39,146,030 (GRCm39)	K299T	probably damaging	Het
Large2	T	A	2: 92,195,704 (GRCm39)	D632V	probably damaging	Het
Lrp2	C	T	2: 69,297,487 (GRCm39)	C3158Y	probably damaging	Het
Malt1	T	A	18: 65,580,746 (GRCm39)	D213E	probably benign	Het
Nkapl	T	C	13: 21,651,512 (GRCm39)	Q367R	probably benign	Het
Nwd2	T	C	5: 63,964,808 (GRCm39)	L1464P	probably damaging	Het
Or1e25	C	G	11: 73,494,243 (GRCm39)	T279R	probably damaging	Het
Or2y1	A	C	11: 49,386,134 (GRCm39)	Y258S	probably damaging	Het
Or7a40	A	T	16: 16,491,511 (GRCm39)	D111E	possibly damaging	Het
Or8u10	T	A	2: 85,916,044 (GRCm39)	I26F	probably benign	Het
Or9g20	C	T	2: 85,630,362 (GRCm39)	C84Y	probably benign	Het
P2ry2	A	G	7: 100,647,657 (GRCm39)	V216A	probably benign	Het
Pcdhb1	A	G	18: 37,400,199 (GRCm39)	K717E	probably damaging	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Pcsk6	T	C	7: 65,675,056 (GRCm39)	S476P	probably damaging	Het
Phactr3	T	A	2: 177,924,945 (GRCm39)	H293Q	probably damaging	Het
Pias1	T	C	9: 62,859,286 (GRCm39)	D74G	possibly damaging	Het
Plekhg6	T	C	6: 125,350,081 (GRCm39)	T286A	probably benign	Het
Pramel23	A	T	4: 143,424,903 (GRCm39)	L180Q	probably damaging	Het
Prkag2	A	C	5: 25,083,758 (GRCm39)	M75R	probably damaging	Het
Prl7c1	T	A	13: 27,960,261 (GRCm39)	M94L	probably benign	Het
Prodh	C	T	16: 17,891,504 (GRCm39)	V480I	probably benign	Het
Ptprn2	A	G	12: 116,864,628 (GRCm39)	I548V	probably benign	Het
Ptprr	T	C	10: 116,088,769 (GRCm39)	W307R	probably damaging	Het
Rab29	T	C	1: 131,797,700 (GRCm39)	S52P	possibly damaging	Het
Ralgapa2	A	G	2: 146,184,493 (GRCm39)	F1505L	probably damaging	Het
Scn8a	C	T	15: 100,869,484 (GRCm39)	A209V	probably damaging	Het
Senp2	G	T	16: 21,865,417 (GRCm39)	W580L	probably damaging	Het
Septin4	A	T	11: 87,474,142 (GRCm39)		probably null	Het
Slc2a9	T	C	5: 38,556,049 (GRCm39)	N299S	probably damaging	Het
Slc41a2	T	A	10: 83,137,085 (GRCm39)	H274L	probably damaging	Het
Suco	A	T	1: 161,691,528 (GRCm39)	D43E	probably benign	Het
Tacr2	T	A	10: 62,088,958 (GRCm39)	I121N	probably damaging	Het
Tanc2	G	A	11: 105,804,888 (GRCm39)		probably benign	Het
Tbl1xr1	T	C	3: 22,254,522 (GRCm39)	F322L	possibly damaging	Het
Tdrd1	T	A	19: 56,839,773 (GRCm39)	L611*	probably null	Het
Tgfbr2	T	C	9: 115,939,009 (GRCm39)	T298A	probably damaging	Het
Tmprss12	T	C	15: 100,187,185 (GRCm39)	V217A	probably damaging	Het
Ttbk1	A	T	17: 46,790,173 (GRCm39)	C91S	probably damaging	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Vmn1r71	A	T	7: 10,482,175 (GRCm39)	I105K	possibly damaging	Het
Vmn2r57	A	G	7: 41,077,663 (GRCm39)	F168L	probably benign	Het
Zfp945	C	T	17: 23,070,144 (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
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
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'- TTCAAATCATAACCTCACTCAGTGA -3'
(R):5'- ATGCACAACTGGATTTGGTGTTG -3'

Sequencing Primer
(F):5'- AGGTCTTAAGTCAGGCTCACTACTG -3'
(R):5'- GTGTGCTCTAGTCTGAGTTTTAGCC -3'

Posted On

2015-06-10