Mutagenetix > Incidental Mutation

Incidental Mutation 'R5689:Slc5a10'

443586

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

043322-MU

Accession Numbers

Essential gene?

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

Stock #

R5689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61563608-61611641 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 61598710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 223 (M223I)

Ref Sequence

ENSEMBL: ENSMUSP00000118196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051552] [ENSMUST00000093019] [ENSMUST00000148584] [ENSMUST00000151780]

AlphaFold

Q5SWY8

Predicted Effect

probably benign
Transcript: ENSMUST00000051552
AA Change: M252I

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000054407
Gene: ENSMUSG00000042371
AA Change: M252I

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: ENSMUST00000093019

SMART Domains

Protein: ENSMUSP00000090697
Gene: ENSMUSG00000042377

Domain	Start	End	E-Value	Type
Pfam:DUF1669	15	309	1.8e-120	PFAM
Pfam:PLDc_2	165	304	5.5e-11	PFAM
low complexity region	316	336	N/A	INTRINSIC
low complexity region	468	481	N/A	INTRINSIC
low complexity region	577	585	N/A	INTRINSIC
low complexity region	589	604	N/A	INTRINSIC
low complexity region	721	731	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128196

Predicted Effect

probably benign
Transcript: ENSMUST00000148584
AA Change: M252I

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114523
Gene: ENSMUSG00000042371
AA Change: M252I

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: M223I

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118196
Gene: ENSMUSG00000042371
AA Change: M223I

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

0.1222

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (63/66)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	T	8: 89,051,412 (GRCm39)	C844F	probably benign	Het
Afdn	T	C	17: 14,075,621 (GRCm39)	V945A	probably damaging	Het
Aimp2	T	C	5: 143,843,389 (GRCm39)	D67G	possibly damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Atp11b	G	T	3: 35,888,501 (GRCm39)	V924F	possibly damaging	Het
Atp8b1	C	T	18: 64,697,608 (GRCm39)	R412H	probably damaging	Het
Cfb	T	A	17: 35,080,770 (GRCm39)	T76S	probably benign	Het
Cmpk2	A	T	12: 26,519,766 (GRCm39)	H139L	probably benign	Het
Cypt4	T	C	9: 24,536,542 (GRCm39)	S11P	possibly damaging	Het
Dbx1	A	G	7: 49,282,519 (GRCm39)	F229L	probably damaging	Het
Dnah6	T	A	6: 72,998,210 (GRCm39)	M4071L	probably benign	Het
Dnah7a	A	G	1: 53,444,857 (GRCm39)	V3949A	possibly damaging	Het
Dnajc25	A	G	4: 59,017,716 (GRCm39)	E6G	probably damaging	Het
Dync2h1	C	A	9: 7,169,689 (GRCm39)	V263F	probably damaging	Het
Eno4	T	A	19: 58,959,088 (GRCm39)	D403E	probably benign	Het
Evi5l	C	T	8: 4,255,460 (GRCm39)	Q542*	probably null	Het
Fam135a	A	G	1: 24,068,134 (GRCm39)	S12P	probably benign	Het
Flnc	G	A	6: 29,441,591 (GRCm39)	A458T	probably benign	Het
Fnip1	T	C	11: 54,393,115 (GRCm39)	V517A	probably damaging	Het
Galc	G	T	12: 98,179,245 (GRCm39)	H361N	possibly damaging	Het
Gask1a	T	C	9: 121,794,754 (GRCm39)	F303L	probably damaging	Het
Gcnt1	T	A	19: 17,306,768 (GRCm39)	D319V	probably damaging	Het
Gm26996	T	C	6: 130,555,258 (GRCm39)		noncoding transcript	Het
Gm5321	A	T	7: 6,022,268 (GRCm39)		noncoding transcript	Het
Grin3b	T	C	10: 79,810,465 (GRCm39)	L657P	probably damaging	Het
Gstm5	T	C	3: 107,803,981 (GRCm39)	F54S	probably damaging	Het
Ilk	C	A	7: 105,390,857 (GRCm39)	L267I	probably benign	Het
Lifr	A	G	15: 7,214,285 (GRCm39)	Y713C	probably damaging	Het
Lnx2	A	T	5: 146,965,961 (GRCm39)	V386E	probably damaging	Het
Lrch1	T	C	14: 75,023,764 (GRCm39)	E587G	probably damaging	Het
Or10g3	C	T	14: 52,610,214 (GRCm39)	V99M	possibly damaging	Het
Osgin1	A	G	8: 120,171,728 (GRCm39)	*173W	probably null	Het
Pcdhga7	C	A	18: 37,849,736 (GRCm39)	P581H	probably damaging	Het
Pde4dip	A	T	3: 97,599,683 (GRCm39)	L2384*	probably null	Het
Phf12	T	A	11: 77,914,551 (GRCm39)	N115K	probably damaging	Het
Pmel	A	G	10: 128,552,170 (GRCm39)	T335A	probably damaging	Het
Polr3e	C	A	7: 120,539,912 (GRCm39)	T579K	possibly damaging	Het
Ptprc	A	G	1: 138,045,515 (GRCm39)	V164A	probably benign	Het
Rapsn	T	C	2: 90,866,269 (GRCm39)	F43S	probably damaging	Het
Rarb	T	A	14: 16,434,177 (GRCm38)	I334F	probably damaging	Het
Rev3l	T	C	10: 39,670,954 (GRCm39)	Y167H	probably damaging	Het
Rnf146	T	C	10: 29,223,800 (GRCm39)	T29A	probably benign	Het
Rsf1	GC	GCGGCGGCGCC	7: 97,229,141 (GRCm39)		probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc7a11	C	G	3: 50,326,780 (GRCm39)	V494L	probably benign	Het
Slitrk6	C	T	14: 110,989,558 (GRCm39)	E50K	probably benign	Het
Smg8	A	G	11: 86,975,949 (GRCm39)	F544S	probably damaging	Het
Tnpo3	T	C	6: 29,571,063 (GRCm39)	M444V	possibly damaging	Het
Trav7d-4	G	A	14: 53,007,651 (GRCm39)	R48H	probably damaging	Het
Trim50	A	T	5: 135,382,516 (GRCm39)	T123S	probably damaging	Het
Trpc4ap	C	G	2: 155,512,955 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,618,620 (GRCm39)	R14475S	probably damaging	Het
Uts2	A	T	4: 151,083,565 (GRCm39)	T59S	possibly damaging	Het
Vmn1r52	T	C	6: 90,156,232 (GRCm39)	S179P	possibly damaging	Het
Vmn2r116	A	G	17: 23,616,693 (GRCm39)	H537R	probably benign	Het
Vps16	C	T	2: 130,281,011 (GRCm39)	Q226*	probably null	Het
Zfhx2	T	C	14: 55,311,360 (GRCm39)	T445A	possibly damaging	Het
Zfp638	T	C	6: 83,906,054 (GRCm39)	V73A	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
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
R5686:Slc5a10	UTSW	11	61,569,392 (GRCm39)	missense	probably benign	0.19
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'- AAGGAACCCTAGCAGCCTAG -3'
(R):5'- AACCTCAACCTTCCTGGAGC -3'

Sequencing Primer
(F):5'- TAGCAGCCTAGATGGACCC -3'
(R):5'- CCAGTTTGATGCATGAAGTTATCTG -3'

Posted On

2016-11-09