Mutagenetix > Incidental Mutation

Incidental Mutation 'R1535:Slc5a10'

166905

Institutional Source

Beutler Lab

Gene Symbol

Slc5a10

Ensembl Gene

ENSMUSG00000042371

Gene Name

solute carrier family 5 (sodium/glucose cotransporter), member 10

Synonyms

SGLT5, C330021F16Rik

MMRRC Submission

039574-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R1535 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

61563608-61611641 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61564767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 404 (G404V)

Ref Sequence

ENSEMBL: ENSMUSP00000118196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004959] [ENSMUST00000051552] [ENSMUST00000148584] [ENSMUST00000151780]

AlphaFold

Q5SWY8

Predicted Effect

probably benign
Transcript: ENSMUST00000004959

SMART Domains

Protein: ENSMUSP00000004959
Gene: ENSMUSG00000004837

Domain	Start	End	E-Value	Type
SH3	1	57	5.43e-18	SMART
SH2	58	141	1.9e-33	SMART
SH3	161	216	3.32e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000051552
AA Change: G433V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000054407
Gene: ENSMUSG00000042371
AA Change: G433V

Domain	Start	End	E-Value	Type
Pfam:SSF	50	479	2.4e-139	PFAM
transmembrane domain	513	535	N/A	INTRINSIC
transmembrane domain	576	595	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128196

Predicted Effect

probably benign
Transcript: ENSMUST00000148584
AA Change: G433V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000114523
Gene: ENSMUSG00000042371
AA Change: G433V

Domain	Start	End	E-Value	Type
Pfam:SSF	50	479	2.4e-139	PFAM
transmembrane domain	513	535	N/A	INTRINSIC
transmembrane domain	576	595	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151780
AA Change: G404V

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118196
Gene: ENSMUSG00000042371
AA Change: G404V

Domain	Start	End	E-Value	Type
Pfam:SSF	48	185	3.5e-44	PFAM
Pfam:SSF	182	450	5e-79	PFAM
transmembrane domain	484	506	N/A	INTRINSIC
transmembrane domain	547	566	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155380

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired fructose reabsorption in the kidneys and exacerbated hepatic steatosis induced by fructose. [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
3110009E18Rik	T	C	1: 120,099,203 (GRCm39)	S99P	possibly damaging	Het
Abca16	T	A	7: 120,139,928 (GRCm39)	I1530N	probably benign	Het
Abcc9	T	G	6: 142,610,361 (GRCm39)	Q601P	probably damaging	Het
Acap3	A	G	4: 155,980,631 (GRCm39)		probably benign	Het
Adamts16	A	T	13: 70,939,913 (GRCm39)		probably null	Het
Alpk2	G	C	18: 65,483,275 (GRCm39)	S244R	probably benign	Het
Aoc1l1	T	C	6: 48,952,398 (GRCm39)	F108L	probably damaging	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bend5	C	A	4: 111,316,960 (GRCm39)	D374E	probably benign	Het
Catsperg2	T	C	7: 29,397,671 (GRCm39)	D1014G	possibly damaging	Het
Ccer2	G	T	7: 28,456,822 (GRCm39)	G189*	probably null	Het
Ces2h	A	G	8: 105,741,118 (GRCm39)	T37A	probably benign	Het
Cfap68	C	T	9: 50,675,307 (GRCm39)	R40Q	probably damaging	Het
Cmah	T	C	13: 24,623,203 (GRCm39)	F213L	probably damaging	Het
Cntn2	T	C	1: 132,453,122 (GRCm39)	E390G	probably benign	Het
Coq7	C	T	7: 118,128,897 (GRCm39)	R46Q	possibly damaging	Het
Cpb1	T	A	3: 20,320,451 (GRCm39)	D136V	probably benign	Het
Cxcr2	T	C	1: 74,198,217 (GRCm39)	L237P	probably damaging	Het
Daam1	T	C	12: 71,998,692 (GRCm39)	L549P	unknown	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dis3	G	T	14: 99,316,862 (GRCm39)	Q825K	probably damaging	Het
Dnah11	C	T	12: 117,982,465 (GRCm39)	R2568Q	probably damaging	Het
Dnah12	A	T	14: 26,538,279 (GRCm39)	R2312S	possibly damaging	Het
Dock9	C	T	14: 121,783,476 (GRCm39)	E2041K	probably damaging	Het
Eci1	A	G	17: 24,658,064 (GRCm39)	E282G	probably benign	Het
Egf	T	A	3: 129,484,427 (GRCm39)	T464S	probably benign	Het
Eif4g3	C	T	4: 137,824,613 (GRCm39)	P97S	probably damaging	Het
Emsy	A	G	7: 98,242,944 (GRCm39)	V1065A	possibly damaging	Het
Ep400	G	T	5: 110,856,032 (GRCm39)		probably benign	Het
Fam13a	A	C	6: 58,916,332 (GRCm39)	I607S	probably damaging	Het
Fam241b	A	G	10: 61,944,728 (GRCm39)	S113P	probably damaging	Het
Fbxl21	A	T	13: 56,671,340 (GRCm39)	M1L	probably benign	Het
Fnip2	C	A	3: 79,389,072 (GRCm39)	C553F	probably damaging	Het
Frmd3	G	T	4: 73,931,995 (GRCm39)		probably benign	Het
Grm4	G	A	17: 27,653,775 (GRCm39)	S470L	probably benign	Het
Gucy2e	T	A	11: 69,117,070 (GRCm39)	I784F	probably damaging	Het
H1f10	T	C	6: 87,958,130 (GRCm39)	Y70C	probably damaging	Het
Hmcn2	A	T	2: 31,310,419 (GRCm39)	T3338S	possibly damaging	Het
Idh1	C	T	1: 65,207,697 (GRCm39)	G161R	probably damaging	Het
Idi1	T	C	13: 8,936,945 (GRCm39)		probably benign	Het
Idi2l	A	T	13: 8,990,680 (GRCm39)		probably benign	Het
Kcnq2	C	T	2: 180,776,618 (GRCm39)	G90S	probably damaging	Het
Klhl29	A	G	12: 5,134,486 (GRCm39)	Y642H	probably damaging	Het
Lmtk3	T	A	7: 45,443,994 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,334,486 (GRCm39)	F4420I	probably benign	Het
Me1	A	G	9: 86,469,096 (GRCm39)	S470P	probably damaging	Het
Mfsd2b	A	G	12: 4,920,605 (GRCm39)	S71P	probably damaging	Het
Mfsd3	T	C	15: 76,586,979 (GRCm39)	L273P	probably damaging	Het
Mical1	A	G	10: 41,361,207 (GRCm39)	K757R	possibly damaging	Het
Myh9	A	T	15: 77,662,013 (GRCm39)	V782D	probably damaging	Het
Nab2	C	G	10: 127,500,916 (GRCm39)	E59Q	probably damaging	Het
Nfyc	A	T	4: 120,618,921 (GRCm39)	N244K	probably damaging	Het
Nupr2	A	G	5: 129,937,672 (GRCm39)	I80M	probably damaging	Het
Or4c15b	T	C	2: 89,113,401 (GRCm39)	I46M	probably benign	Het
Or51f1d	A	G	7: 102,700,576 (GRCm39)	T24A	probably benign	Het
Or5a1	A	G	19: 12,097,696 (GRCm39)	C115R	probably damaging	Het
Pkn3	A	G	2: 29,977,065 (GRCm39)	T602A	probably benign	Het
Prrc2b	T	A	2: 32,094,301 (GRCm39)	V561D	probably benign	Het
Psd2	T	A	18: 36,138,843 (GRCm39)	V489E	probably benign	Het
Rasal2	T	C	1: 157,057,629 (GRCm39)	T181A	probably benign	Het
Serpinb13	T	C	1: 106,909,886 (GRCm39)	M1T	probably null	Het
Sgsm1	A	T	5: 113,411,135 (GRCm39)	S864T	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Son	A	G	16: 91,456,622 (GRCm39)	K1790E	probably damaging	Het
Spata31e5	T	C	1: 28,816,505 (GRCm39)	E509G	probably damaging	Het
Syde2	A	G	3: 145,708,176 (GRCm39)		probably benign	Het
Tmem126a	T	C	7: 90,102,026 (GRCm39)	I58V	probably benign	Het
Vmn2r8	T	C	5: 108,950,040 (GRCm39)	Y269C	probably damaging	Het
Wdr87-ps	C	T	7: 29,229,004 (GRCm39)		noncoding transcript	Het
Yeats2	T	A	16: 20,008,115 (GRCm39)	S416T	probably damaging	Het
Zfp40	A	T	17: 23,394,843 (GRCm39)	H513Q	probably damaging	Het

Other mutations in Slc5a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01360:Slc5a10	APN	11	61,605,962 (GRCm39)	missense	probably damaging	0.99
IGL02215:Slc5a10	APN	11	61,564,738 (GRCm39)	missense	probably benign	0.00
IGL02354:Slc5a10	APN	11	61,610,666 (GRCm39)	critical splice donor site	probably null
IGL02361:Slc5a10	APN	11	61,610,666 (GRCm39)	critical splice donor site	probably null
IGL02573:Slc5a10	APN	11	61,563,898 (GRCm39)	missense	possibly damaging	0.89
IGL02712:Slc5a10	APN	11	61,598,632 (GRCm39)	nonsense	probably null
R1659:Slc5a10	UTSW	11	61,567,070 (GRCm39)	missense	possibly damaging	0.94
R1698:Slc5a10	UTSW	11	61,600,428 (GRCm39)	missense	probably benign	0.44
R2161:Slc5a10	UTSW	11	61,610,760 (GRCm39)	missense	probably null	0.17
R4948:Slc5a10	UTSW	11	61,610,708 (GRCm39)	missense	probably damaging	0.98
R5686:Slc5a10	UTSW	11	61,569,392 (GRCm39)	missense	probably benign	0.19
R5689:Slc5a10	UTSW	11	61,598,710 (GRCm39)	missense	probably benign	0.16
R7398:Slc5a10	UTSW	11	61,564,405 (GRCm39)	missense	probably benign
R7769:Slc5a10	UTSW	11	61,564,473 (GRCm39)	missense	probably damaging	1.00
R8234:Slc5a10	UTSW	11	61,564,107 (GRCm39)	missense	probably benign
R8257:Slc5a10	UTSW	11	61,605,873 (GRCm39)	missense	probably damaging	1.00
R8492:Slc5a10	UTSW	11	61,564,809 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTCAAAGGACTTGCGGAGTACCC -3'
(R):5'- ATTCACCGTCCCCAAATGCCTG -3'

Sequencing Primer
(F):5'- AATCCCATCGGATCTGTCTGTG -3'
(R):5'- CAGGCTGGTCATCGTGGT -3'

Posted On

2014-04-13