Mutagenetix > Incidental Mutation

Incidental Mutation 'R1698:Slc5a10'

192430

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

039731-MU

Accession Numbers

Essential gene?

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

Stock #

R1698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61563608-61611641 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61600428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 181 (Y181C)

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: Y183C

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000054407
Gene: ENSMUSG00000042371
AA Change: Y183C

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: Y183C

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114523
Gene: ENSMUSG00000042371
AA Change: Y183C

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: Y181C

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118196
Gene: ENSMUSG00000042371
AA Change: Y181C

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	C	6: 121,622,117 (GRCm39)	E340A	possibly damaging	Het
Abca13	A	G	11: 9,264,507 (GRCm39)	D2963G	probably benign	Het
Actn3	T	C	19: 4,912,235 (GRCm39)	D783G	possibly damaging	Het
Adamtsl2	A	G	2: 26,993,139 (GRCm39)	E723G	possibly damaging	Het
Agrn	G	T	4: 156,251,015 (GRCm39)	Q1931K	probably benign	Het
Ankrd27	G	A	7: 35,313,946 (GRCm39)	A426T	probably benign	Het
Atg9b	C	A	5: 24,593,186 (GRCm39)	G406C	probably damaging	Het
C1ra	A	T	6: 124,499,725 (GRCm39)	Q637L	probably benign	Het
Cdhr2	A	T	13: 54,867,394 (GRCm39)	M438L	probably benign	Het
Cep350	T	C	1: 155,829,104 (GRCm39)	I267V	possibly damaging	Het
Chrna5	A	G	9: 54,911,926 (GRCm39)	Y138C	probably damaging	Het
Chst3	T	A	10: 60,021,525 (GRCm39)	M441L	probably benign	Het
Cmya5	G	A	13: 93,200,027 (GRCm39)	P3434S	probably benign	Het
Cog2	T	A	8: 125,252,422 (GRCm39)	L42Q	probably damaging	Het
Cpq	A	T	15: 33,250,272 (GRCm39)	I210F	probably benign	Het
Crnn	C	A	3: 93,055,765 (GRCm39)	Q184K	probably damaging	Het
Csnka2ip	A	T	16: 64,298,422 (GRCm39)	Y647*	probably null	Het
D5Ertd579e	C	T	5: 36,761,874 (GRCm39)	R1331H	probably benign	Het
Dennd5a	C	T	7: 109,516,587 (GRCm39)		probably null	Het
Dync1h1	A	G	12: 110,593,426 (GRCm39)	Q1231R	possibly damaging	Het
Erbin	T	A	13: 103,970,239 (GRCm39)	I1126F	possibly damaging	Het
Fastkd1	T	C	2: 69,532,813 (GRCm39)	D518G	probably benign	Het
Gcc1	A	G	6: 28,421,110 (GRCm39)	L69P	possibly damaging	Het
Gkn1	T	C	6: 87,324,151 (GRCm39)	Y119C	probably damaging	Het
Gmpr	T	G	13: 45,670,520 (GRCm39)	W81G	probably benign	Het
Gyg1	T	A	3: 20,192,215 (GRCm39)	I236F	probably benign	Het
Hcrtr2	T	C	9: 76,153,735 (GRCm39)	Y219C	probably damaging	Het
Hmcn1	G	A	1: 150,441,120 (GRCm39)	Q5379*	probably null	Het
Kank1	T	C	19: 25,388,681 (GRCm39)	C785R	probably benign	Het
Lrp1b	A	T	2: 40,741,818 (GRCm39)	C3036*	probably null	Het
Mdga2	T	C	12: 66,736,109 (GRCm39)	D373G	probably damaging	Het
Mgat2	A	T	12: 69,232,493 (GRCm39)	I356F	probably benign	Het
Miga2	A	G	2: 30,268,009 (GRCm39)	D346G	probably damaging	Het
Mprip	T	A	11: 59,651,084 (GRCm39)	L1596Q	possibly damaging	Het
Mroh2b	G	A	15: 4,943,622 (GRCm39)	R386Q	probably benign	Het
Mst1r	T	A	9: 107,797,179 (GRCm39)	S1349R	probably benign	Het
Mtmr3	C	T	11: 4,442,825 (GRCm39)	R403H	possibly damaging	Het
Mycbpap	G	A	11: 94,398,969 (GRCm39)	Q460*	probably null	Het
Myo9a	T	C	9: 59,775,464 (GRCm39)	V1025A	probably benign	Het
Ncapd2	C	T	6: 125,145,553 (GRCm39)	E1365K	probably null	Het
Nkiras2	C	A	11: 100,515,989 (GRCm39)	D105E	probably damaging	Het
Nolc1	T	G	19: 46,069,870 (GRCm39)		probably null	Het
Nos1	T	C	5: 118,005,297 (GRCm39)	F6L	probably benign	Het
Or10j3	A	T	1: 173,030,938 (GRCm39)	N5I	probably damaging	Het
Or12e1	G	T	2: 87,022,081 (GRCm39)	V17L	probably benign	Het
Or2t46	T	C	11: 58,472,077 (GRCm39)	Y136H	probably damaging	Het
Or2w1b	C	T	13: 21,300,735 (GRCm39)	T291I	probably benign	Het
Or4f54	T	A	2: 111,122,905 (GRCm39)	C97*	probably null	Het
Or8b46	T	A	9: 38,450,552 (GRCm39)	Y120*	probably null	Het
Pfkm	A	G	15: 98,026,199 (GRCm39)	E598G	possibly damaging	Het
Phf2	A	T	13: 48,961,106 (GRCm39)	D861E	unknown	Het
Polr2a	A	G	11: 69,630,703 (GRCm39)		probably null	Het
Popdc2	G	A	16: 38,189,853 (GRCm39)	V167M	probably damaging	Het
Ptpn22	T	C	3: 103,793,114 (GRCm39)	S422P	probably benign	Het
Rasa2	T	C	9: 96,450,428 (GRCm39)	K490R	possibly damaging	Het
Rbfox3	T	A	11: 118,386,047 (GRCm39)	D286V	probably damaging	Het
Rdh13	A	G	7: 4,430,790 (GRCm39)	W223R	probably damaging	Het
Riok3	T	C	18: 12,261,986 (GRCm39)	S7P	probably benign	Het
Rnaseh2b	A	G	14: 62,591,081 (GRCm39)	E144G	probably benign	Het
Rnf20	C	T	4: 49,651,498 (GRCm39)	Q655*	probably null	Het
Rpap2	T	C	5: 107,751,416 (GRCm39)	Y8H	probably damaging	Het
Snd1	G	T	6: 28,888,252 (GRCm39)	G896*	probably null	Het
Spast	C	T	17: 74,663,155 (GRCm39)	Q158*	probably null	Het
Tas2r104	G	A	6: 131,662,547 (GRCm39)	S54F	probably damaging	Het
Tcaf2	C	T	6: 42,604,951 (GRCm39)	W611*	probably null	Het
Thoc2l	C	T	5: 104,668,376 (GRCm39)	A966V	probably benign	Het
Timp4	G	A	6: 115,227,364 (GRCm39)		probably null	Het
Tmem45a	G	A	16: 56,643,933 (GRCm39)	S72L	probably benign	Het
Tnrc18	T	C	5: 142,774,458 (GRCm39)	T124A	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttn	T	C	2: 76,773,259 (GRCm39)	D2381G	probably damaging	Het
Uevld	T	C	7: 46,605,372 (GRCm39)	T41A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Unc5d	T	C	8: 29,186,506 (GRCm39)	E527G	probably damaging	Het
Vmn2r125	C	T	4: 156,703,333 (GRCm39)	T237I	probably benign	Het
Vmn2r63	A	C	7: 42,583,038 (GRCm39)	I59S	probably benign	Het
Vps72	G	A	3: 95,026,006 (GRCm39)	S106N	probably benign	Het
Zan	A	C	5: 137,407,931 (GRCm39)		probably benign	Het
Zbtb38	T	C	9: 96,567,515 (GRCm39)	K1190E	probably benign	Het
Zc3h6	T	C	2: 128,859,278 (GRCm39)	V1103A	probably benign	Het
Zfp407	G	A	18: 84,580,282 (GRCm39)	T277I	probably damaging	Het
Zfp804b	A	G	5: 6,819,509 (GRCm39)	S1149P	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
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'- CTTTGACTGCCAAAATGACAGCACC -3'
(R):5'- GCCCTGAATCTCACCGTAATGTCTG -3'

Sequencing Primer
(F):5'- GCAGGGCATCTGTGTATATCAC -3'
(R):5'- GAATCTCACCGTAATGTCTGACTTC -3'

Posted On

2014-05-14