Mutagenetix > Incidental Mutation

Incidental Mutation 'R8309:Slc17a5'

641275

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

067794-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.705) question?

Stock #

R8309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78443770-78495323 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 78478311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 231 (Y231*)

Ref Sequence

ENSEMBL: ENSMUSP00000056182 (fasta)

Gene Model

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

AlphaFold

Q8BN82

Predicted Effect

probably null
Transcript: ENSMUST00000052441
AA Change: Y231*

SMART Domains

Protein: ENSMUSP00000056182
Gene: ENSMUSG00000049624
AA Change: Y231*

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 null
Transcript: ENSMUST00000117645
AA Change: Y205*

SMART Domains

Protein: ENSMUSP00000113003
Gene: ENSMUSG00000049624
AA Change: Y205*

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
AA Change: S237T

SMART Domains

Protein: ENSMUSP00000113340
Gene: ENSMUSG00000049624
AA Change: S237T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	A	2: 35,279,599 (GRCm39)	Y34F	possibly damaging	Het
Abcb6	A	T	1: 75,149,588 (GRCm39)	S664T	probably benign	Het
Abcc4	C	T	14: 118,853,804 (GRCm39)	V443M	probably damaging	Het
Abhd2	G	A	7: 78,998,095 (GRCm39)	G209D	probably damaging	Het
Acte1	A	G	7: 143,437,680 (GRCm39)	N126S	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Apbb2	T	A	5: 66,520,179 (GRCm39)	M449L	probably benign	Het
Ccdc81	T	A	7: 89,526,786 (GRCm39)		probably null	Het
Cd209b	A	T	8: 3,976,559 (GRCm39)	C42*	probably null	Het
Cdhr18	G	A	14: 13,814,954 (GRCm38)	Q860*	probably null	Het
Clec18a	A	T	8: 111,808,689 (GRCm39)	M11K	probably benign	Het
Clock	A	T	5: 76,402,269 (GRCm39)	S130R	probably benign	Het
Col12a1	G	A	9: 79,512,465 (GRCm39)	A2910V	possibly damaging	Het
Col6a4	C	T	9: 105,952,414 (GRCm39)	A495T	probably benign	Het
Cyp4f37	A	T	17: 32,853,952 (GRCm39)	N467I	probably damaging	Het
Ddo	G	A	10: 40,513,375 (GRCm39)	V106M	possibly damaging	Het
Dennd5a	A	G	7: 109,500,332 (GRCm39)	L931P	probably damaging	Het
Dgcr6	A	G	16: 17,884,598 (GRCm39)	D82G	probably damaging	Het
Dnah7b	T	C	1: 46,179,032 (GRCm39)	S902P	probably damaging	Het
Dnal4	T	G	15: 79,646,711 (GRCm39)	I57L	probably benign	Het
Dst	T	A	1: 34,156,592 (GRCm39)	I174N	probably damaging	Het
Dync2i1	T	C	12: 116,219,705 (GRCm39)	E79G	probably damaging	Het
Dync2i2	A	G	2: 29,922,201 (GRCm39)	L420P	probably damaging	Het
Eeig2	G	A	3: 108,934,658 (GRCm39)		probably benign	Het
Efhb	T	C	17: 53,756,563 (GRCm39)	T363A	probably damaging	Het
Ehbp1l1	A	G	19: 5,767,103 (GRCm39)	F1245S	probably damaging	Het
Eif4g1	A	G	16: 20,507,578 (GRCm39)	D1453G	probably benign	Het
Fbp1	T	C	13: 63,016,831 (GRCm39)	I224V	probably benign	Het
Gm10782	T	G	13: 56,510,948 (GRCm39)	F79V	noncoding transcript	Het
Gpaa1	C	G	15: 76,216,160 (GRCm39)	R47G	possibly damaging	Het
Hs2st1	G	A	3: 144,143,365 (GRCm39)	S226L	possibly damaging	Het
Hydin	A	G	8: 111,334,534 (GRCm39)	Y4992C	probably benign	Het
Ikbke	A	T	1: 131,191,065 (GRCm39)	C549*	probably null	Het
Insrr	G	A	3: 87,717,749 (GRCm39)	G817S	probably benign	Het
Itgb5	G	A	16: 33,685,923 (GRCm39)	V88I	probably benign	Het
Krt78	A	G	15: 101,854,922 (GRCm39)	V963A	probably benign	Het
Lars1	T	C	18: 42,376,093 (GRCm39)	Y239C	possibly damaging	Het
Map2k5	A	G	9: 63,246,361 (GRCm39)		probably null	Het
Mfn2	A	T	4: 147,974,693 (GRCm39)	W118R	probably benign	Het
Mga	T	A	2: 119,791,411 (GRCm39)	I2550N	probably damaging	Het
Mgam	A	G	6: 40,722,111 (GRCm39)	I401V	possibly damaging	Het
Mrps18c	A	G	5: 100,952,264 (GRCm39)	Y141C	probably damaging	Het
Myo1e	A	T	9: 70,254,045 (GRCm39)	I565L	possibly damaging	Het
Nfatc4	G	A	14: 56,063,848 (GRCm39)	E112K	probably damaging	Het
Nubp1	A	G	16: 10,239,486 (GRCm39)	M255V	probably benign	Het
Or13n4	A	C	7: 106,423,620 (GRCm39)	S38A	probably benign	Het
Or52a33	A	G	7: 103,288,658 (GRCm39)	S230P	probably damaging	Het
Or8g33	C	T	9: 39,337,966 (GRCm39)	V134I	probably benign	Het
Pask	A	T	1: 93,240,573 (GRCm39)	C1264*	probably null	Het
Pcgf2	T	C	11: 97,582,569 (GRCm39)	T173A	probably benign	Het
Plcg1	T	C	2: 160,595,853 (GRCm39)	I574T	probably benign	Het
Plin4	T	C	17: 56,411,437 (GRCm39)	T865A	probably damaging	Het
Pnpt1	T	C	11: 29,103,277 (GRCm39)	V514A	probably benign	Het
Ppp1r3a	T	A	6: 14,719,700 (GRCm39)	I405F	probably benign	Het
Qpctl	A	G	7: 18,882,398 (GRCm39)	V86A	probably benign	Het
Rab3gap1	G	T	1: 127,837,655 (GRCm39)	W239L	possibly damaging	Het
Ralgapa2	T	A	2: 146,246,786 (GRCm39)	T939S	possibly damaging	Het
Rapgef2	G	T	3: 78,990,509 (GRCm39)	T923N	possibly damaging	Het
Rit2	T	A	18: 31,286,898 (GRCm39)	I96F	probably damaging	Het
Rnase13	A	T	14: 52,159,893 (GRCm39)	I82N	probably damaging	Het
Rp1	C	A	1: 4,417,312 (GRCm39)	V1267L	probably benign	Het
Serpinb9b	G	A	13: 33,223,554 (GRCm39)	E249K	probably damaging	Het
Serpinb9c	G	T	13: 33,334,094 (GRCm39)	T344K	possibly damaging	Het
Serpinh1	T	C	7: 98,998,151 (GRCm39)	I160V	possibly damaging	Het
Sipa1	A	G	19: 5,704,964 (GRCm39)	S544P	probably damaging	Het
Srcap	T	C	7: 127,148,529 (GRCm39)	V1959A	probably damaging	Het
Srrm4	G	A	5: 116,729,626 (GRCm39)		probably benign	Het
Stat1	T	C	1: 52,190,404 (GRCm39)	I553T	possibly damaging	Het
Stpg1	A	G	4: 135,256,903 (GRCm39)	I231M	probably benign	Het
Szt2	G	GC	4: 118,232,679 (GRCm39)		probably null	Het
Trpv3	C	T	11: 73,170,747 (GRCm39)	T209M	probably damaging	Het
Tsc22d2	G	T	3: 58,324,544 (GRCm39)	G479C	unknown	Het
Ttc3	A	G	16: 94,267,838 (GRCm39)	H1950R	probably damaging	Het
Tusc3	A	G	8: 39,617,882 (GRCm39)	*348W	probably null	Het
Utp4	A	T	8: 107,642,853 (GRCm39)	T504S	probably benign	Het
Vmn1r15	A	G	6: 57,235,635 (GRCm39)	M168V	probably benign	Het
Wdsub1	C	T	2: 59,704,578 (GRCm39)		probably benign	Het
Xrcc5	T	A	1: 72,358,286 (GRCm39)	M207K	possibly damaging	Het
Zc3h7a	A	T	16: 10,964,417 (GRCm39)		probably benign	Het
Zdbf2	T	A	1: 63,345,750 (GRCm39)	N1376K	possibly damaging	Het
Zfp558	A	C	9: 18,368,213 (GRCm39)	S192A	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp964	A	G	8: 70,115,924 (GRCm39)	T175A	possibly damaging	Het
Zfp988	A	G	4: 147,416,765 (GRCm39)	R400G	probably damaging	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
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
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'- AAGTCACATGTCACACCCTGG -3'
(R):5'- CGTCCTCCTTAAATGGTAGCCC -3'

Sequencing Primer
(F):5'- ACGTGCTTGACTCTGAATTACTG -3'
(R):5'- TTAAATGGTAGCCCTCCCCAC -3'

Posted On

2020-07-28