Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:Slc5a10'

443373

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

043319-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61563608-61611641 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61569392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 329 (M329K)

Ref Sequence

ENSEMBL: ENSMUSP00000118196 (fasta)

Gene Model

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

AlphaFold

Q5SWY8

Predicted Effect

probably benign
Transcript: ENSMUST00000051552
AA Change: M358K

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000054407
Gene: ENSMUSG00000042371
AA Change: M358K

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: M358K

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114523
Gene: ENSMUSG00000042371
AA Change: M358K

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

probably benign
Transcript: ENSMUST00000151780
AA Change: M329K

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118196
Gene: ENSMUSG00000042371
AA Change: M329K

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

Meta Mutation Damage Score

0.2719

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,451,433 (GRCm39)	E839G	possibly damaging	Het
Adgrf3	T	A	5: 30,402,304 (GRCm39)	T575S	probably damaging	Het
Akap9	T	A	5: 4,021,926 (GRCm39)	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,610,833 (GRCm39)	F926L	probably damaging	Het
BC035947	G	T	1: 78,474,567 (GRCm39)	T655K	probably benign	Het
Bcas1	T	C	2: 170,248,730 (GRCm39)	T64A	probably benign	Het
Bltp1	T	A	3: 36,971,809 (GRCm39)	F514Y	probably benign	Het
Brca2	A	G	5: 150,464,369 (GRCm39)	K1378E	probably benign	Het
Card6	A	T	15: 5,130,435 (GRCm39)	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,142,871 (GRCm39)	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,610,527 (GRCm39)	S212P	probably damaging	Het
Cdh8	T	C	8: 99,759,854 (GRCm39)	I632V	probably benign	Het
Col25a1	A	G	3: 130,357,803 (GRCm39)	E477G	probably damaging	Het
Cpne5	A	T	17: 29,402,991 (GRCm39)	C215S	possibly damaging	Het
Crim1	T	A	17: 78,681,512 (GRCm39)	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,582,838 (GRCm39)	N340K	probably benign	Het
Eif4e2	G	A	1: 87,153,960 (GRCm39)		probably null	Het
Ephb6	G	T	6: 41,596,638 (GRCm39)	R895L	possibly damaging	Het
Esrrg	T	A	1: 187,882,395 (GRCm39)	H217Q	probably benign	Het
Fgl1	T	A	8: 41,653,594 (GRCm39)	K100*	probably null	Het
Flt4	T	C	11: 49,521,430 (GRCm39)	V450A	probably benign	Het
G6pc2	A	T	2: 69,051,128 (GRCm39)	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684 (GRCm39)	M336T	probably damaging	Het
Gli1	T	A	10: 127,173,305 (GRCm39)	T118S	probably benign	Het
Gm5435	A	T	12: 82,542,800 (GRCm39)		noncoding transcript	Het
Got1l1	A	G	8: 27,688,087 (GRCm39)	L314P	probably damaging	Het
Hk3	T	A	13: 55,154,626 (GRCm39)	I740F	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Igsf9b	A	G	9: 27,235,475 (GRCm39)	T508A	probably damaging	Het
Il16	T	A	7: 83,297,936 (GRCm39)	N431I	probably benign	Het
Lax1	G	A	1: 133,607,914 (GRCm39)	P276S	probably damaging	Het
Lrp2	A	T	2: 69,341,405 (GRCm39)	V925E	possibly damaging	Het
Lrp3	T	A	7: 34,902,910 (GRCm39)	T479S	possibly damaging	Het
Metrn	G	A	17: 26,014,191 (GRCm39)	R212C	probably damaging	Het
Mlip	A	C	9: 77,254,975 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,641,697 (GRCm39)	T175I	probably damaging	Het
N6amt1	A	T	16: 87,151,223 (GRCm39)	D28V	probably damaging	Het
Or1e21	A	T	11: 73,344,677 (GRCm39)	Y120*	probably null	Het
Or4f4b	G	A	2: 111,314,488 (GRCm39)	G238R	probably damaging	Het
Or5p52	A	G	7: 107,502,119 (GRCm39)	H65R	probably damaging	Het
Or5p66	G	T	7: 107,885,949 (GRCm39)	A128E	probably damaging	Het
Or6d15	T	C	6: 116,559,890 (GRCm39)	T6A	probably benign	Het
Or8b12i	T	A	9: 20,082,265 (GRCm39)	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,770,433 (GRCm39)	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,128,389 (GRCm39)	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,558,290 (GRCm39)	L323P	probably damaging	Het
Psg21	G	T	7: 18,386,183 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,573 (GRCm39)	V664A	probably benign	Het
Sco2	G	A	15: 89,256,175 (GRCm39)	R160*	probably null	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slco1a5	G	A	6: 142,182,033 (GRCm39)	P564S	probably damaging	Het
Stk38	A	G	17: 29,201,103 (GRCm39)	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826 (GRCm39)	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 83,970,428 (GRCm39)	T441M	possibly damaging	Het
Tg	T	A	15: 66,560,738 (GRCm39)	N1033K	probably benign	Het
Thoc3	A	T	13: 54,615,686 (GRCm39)	I126N	probably damaging	Het
Tnc	T	C	4: 63,925,967 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,927,032 (GRCm39)	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,038,787 (GRCm39)	V100E	probably damaging	Het
Usp43	G	A	11: 67,812,742 (GRCm39)		probably benign	Het
Vmn2r90	A	T	17: 17,933,712 (GRCm39)	Y424F	probably benign	Het
Vps33a	C	T	5: 123,685,064 (GRCm39)		probably null	Het
Xirp2	A	T	2: 67,312,642 (GRCm39)	K37I	probably damaging	Het
Zfp106	A	T	2: 120,363,988 (GRCm39)		probably null	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	probably benign	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
R1535:Slc5a10	UTSW	11	61,564,767 (GRCm39)	missense	possibly damaging	0.65
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
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'- TTAAATGAAGAAGAGCCCAGCC -3'
(R):5'- TAGCTCTGGGAAACTGAGGC -3'

Sequencing Primer
(F):5'- CAGCCAAGCAGTCTGAGG -3'
(R):5'- GACTGAGGGCCACTAAGC -3'

Posted On

2016-11-09