Mutagenetix > Incidental Mutation

Incidental Mutation 'R1919:Slc2a8'

212801

Institutional Source

Beutler Lab

Gene Symbol

Slc2a8

Ensembl Gene

ENSMUSG00000026791

Gene Name

solute carrier family 2, (facilitated glucose transporter), member 8

Synonyms

D2Ertd44e, GlutX1, GLUT8

MMRRC Submission

039937-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32972990-32982083 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32980079 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 150 (Y150C)

Ref Sequence

ENSEMBL: ENSMUSP00000028129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028129] [ENSMUST00000153484] [ENSMUST00000193695] [ENSMUST00000194066] [ENSMUST00000195863]

AlphaFold

Q9JIF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000028129
AA Change: Y150C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028129
Gene: ENSMUSG00000026791
AA Change: Y150C

Domain	Start	End	E-Value	Type
Pfam:MFS_1	26	425	2e-22	PFAM
Pfam:Sugar_tr	29	474	2.7e-98	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130769

Predicted Effect

probably damaging
Transcript: ENSMUST00000153484
AA Change: Y150C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141959
Gene: ENSMUSG00000026791
AA Change: Y150C

Domain	Start	End	E-Value	Type
Pfam:MFS_1	26	296	1.4e-18	PFAM
Pfam:Sugar_tr	29	295	1.5e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191777

Predicted Effect

probably damaging
Transcript: ENSMUST00000193695
AA Change: Y150C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142100
Gene: ENSMUSG00000026791
AA Change: Y150C

Domain	Start	End	E-Value	Type
Pfam:MFS_1	26	290	1.2e-18	PFAM
Pfam:Sugar_tr	29	290	1.4e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194066

SMART Domains

Protein: ENSMUSP00000141969
Gene: ENSMUSG00000026791

Domain	Start	End	E-Value	Type
low complexity region	34	46	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195863

SMART Domains

Protein: ENSMUSP00000141879
Gene: ENSMUSG00000026791

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	1	60	8.7e-17	PFAM

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygotes for one null allele show reduced spermatozoan ATP levels, mitochondrial membrane potential and sperm motility, and a slight deviation from the expected Mendelian frequency. Homozygotes for another null allele show increased hippocampus cell proliferation and cardiac P-wave duration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,270	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 36,095,457	V105F	possibly damaging	Het
4932438A13Rik	A	G	3: 37,006,983		probably null	Het
Actr10	A	G	12: 70,942,330	I74M	probably benign	Het
Aen	T	C	7: 78,905,912	Y108H	probably damaging	Het
Afm	A	T	5: 90,524,920	K205*	probably null	Het
Ankrd27	T	A	7: 35,632,985	S846T	probably benign	Het
Ano3	A	G	2: 110,885,007	S29P	probably benign	Het
Apaf1	C	T	10: 91,077,614	W138*	probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgef4	A	G	1: 34,811,140	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,509,971	V416I	probably damaging	Het
Atxn2l	G	A	7: 126,493,168	T70I	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bspry	T	A	4: 62,494,797	C256S	probably damaging	Het
C3	C	A	17: 57,220,135	W771C	probably damaging	Het
Camkv	A	G	9: 107,947,088	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,635,548	V109E	probably damaging	Het
Cd101	A	G	3: 101,018,917	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,392,777	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,810,696	Q380E	probably benign	Het
Col6a3	T	C	1: 90,822,359	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 105,011,278	V82A	possibly damaging	Het
Cux1	G	A	5: 136,363,319	Q194*	probably null	Het
Daam2	T	C	17: 49,485,457	E361G	probably benign	Het
Dcaf17	A	T	2: 71,078,172		probably null	Het
Dnaic1	T	C	4: 41,570,020		probably null	Het
Eml5	T	C	12: 98,798,839	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969	M988T	possibly damaging	Het
Fancm	T	C	12: 65,105,520	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,480,684	T177I	probably damaging	Het
Gm12169	A	G	11: 46,528,531	D58G	possibly damaging	Het
Gm3604	G	T	13: 62,369,942	H201N	probably benign	Het
Gnpda1	T	C	18: 38,333,190		probably null	Het
Gpatch8	A	G	11: 102,508,142		probably null	Het
H2-M3	T	C	17: 37,271,189	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,470,488	S62R	probably damaging	Het
Hipk2	G	A	6: 38,818,984	R117*	probably null	Het
Hrg	A	T	16: 22,954,457	Q113H	probably damaging	Het
Kcnj16	T	C	11: 111,024,953	V147A	possibly damaging	Het
Kif1a	T	C	1: 93,019,031	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,820,345		probably benign	Het
Krt90	A	T	15: 101,557,230	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,499,271	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,728,729	T225K	probably benign	Het
Map1a	C	T	2: 121,307,012	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,397,643	D193G	probably benign	Het
Mpped2	T	A	2: 106,867,032	I284N	probably damaging	Het
Msh6	A	G	17: 87,985,125	H436R	probably benign	Het
Mterf3	A	T	13: 66,930,062	S48T	probably damaging	Het
Muc5b	T	C	7: 141,846,031	F414L	unknown	Het
Mylk4	A	T	13: 32,724,853	D90E	probably benign	Het
Nploc4	A	G	11: 120,404,229	Y420H	probably damaging	Het
Npr2	T	A	4: 43,640,578	Y344N	probably damaging	Het
Nsun5	A	G	5: 135,375,598	T397A	probably benign	Het
Ntsr2	A	T	12: 16,654,110	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,806,180	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,710,547	V105A	possibly damaging	Het
Olfr791	T	A	10: 129,527,049	V274D	probably damaging	Het
Parp3	T	A	9: 106,475,117	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,624,017	S936P	probably damaging	Het
Pdzd3	T	C	9: 44,250,303	D93G	possibly damaging	Het
Phkb	A	G	8: 85,922,161	E202G	probably benign	Het
Pink1	T	C	4: 138,314,020	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119	D338G	probably damaging	Het
Prss8	G	T	7: 127,929,858	L9I	probably benign	Het
Ptpn22	G	A	3: 103,876,738		probably null	Het
Rad54b	A	C	4: 11,601,693	N416T	probably damaging	Het
Rasef	A	G	4: 73,744,114	S200P	possibly damaging	Het
Rb1	T	A	14: 73,212,990	K645*	probably null	Het
Robo2	C	T	16: 73,899,154	G1367D	probably benign	Het
Rp1	A	G	1: 4,352,671	V52A	probably damaging	Het
Samd13	T	C	3: 146,662,712	T23A	probably benign	Het
Scn7a	T	C	2: 66,699,973	H676R	probably damaging	Het
Serpinb6b	A	G	13: 32,978,240	I222V	probably benign	Het
Slc7a6os	C	A	8: 106,210,564	R88L	probably damaging	Het
Slc8a2	A	G	7: 16,152,920	I657V	probably benign	Het
Slit2	C	A	5: 48,191,016		probably benign	Het
Spire2	A	G	8: 123,363,071	D447G	probably benign	Het
Sptlc3	A	G	2: 139,566,675	N237D	possibly damaging	Het
Stk3	G	A	15: 35,073,217	T119I	probably damaging	Het
Suv39h2	G	A	2: 3,464,316	T334I	probably damaging	Het
Syt5	G	T	7: 4,540,279	T327N	probably damaging	Het
Tcof1	T	C	18: 60,816,084	D1253G	possibly damaging	Het
Tnks	A	T	8: 34,875,232	V388D	probably damaging	Het
Ugt2b1	T	C	5: 86,926,000	T167A	probably benign	Het
Usp40	G	A	1: 87,995,842	R236C	possibly damaging	Het
Utrn	T	C	10: 12,455,480	D2904G	probably benign	Het
Vmn1r226	T	C	17: 20,687,580	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,713,010	S282P	possibly damaging	Het
Vps45	T	C	3: 96,046,440	E200G	probably benign	Het
Wnt7b	T	A	15: 85,559,080	I41F	probably damaging	Het
Zmym6	T	A	4: 127,103,414	N275K	probably damaging	Het

Other mutations in Slc2a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Slc2a8	APN	2	32973624	missense	probably damaging	0.99
IGL01341:Slc2a8	APN	2	32975991	missense	probably damaging	1.00
R0063:Slc2a8	UTSW	2	32979999	splice site	probably null
R0063:Slc2a8	UTSW	2	32979999	splice site	probably null
R0243:Slc2a8	UTSW	2	32980104	intron	probably benign
R0530:Slc2a8	UTSW	2	32973684	missense	probably benign	0.32
R0972:Slc2a8	UTSW	2	32975367	missense	probably benign
R2015:Slc2a8	UTSW	2	32981380	missense	probably benign	0.01
R2893:Slc2a8	UTSW	2	32974954	missense	probably damaging	1.00
R5144:Slc2a8	UTSW	2	32981773	missense	probably damaging	0.96
R5685:Slc2a8	UTSW	2	32981789	missense	possibly damaging	0.87
R5744:Slc2a8	UTSW	2	32976028	missense	probably benign	0.00
R6717:Slc2a8	UTSW	2	32976177	missense	probably damaging	1.00
R7828:Slc2a8	UTSW	2	32980068	nonsense	probably null
R7834:Slc2a8	UTSW	2	32976907	missense	probably damaging	1.00
R8397:Slc2a8	UTSW	2	32975998	missense	probably benign
R9091:Slc2a8	UTSW	2	32974852	missense	probably damaging	1.00
R9270:Slc2a8	UTSW	2	32974852	missense	probably damaging	1.00
X0061:Slc2a8	UTSW	2	32975448	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCAGGCAAACTCTTGTCC -3'
(R):5'- TCCTCTTTAAAACTCTGCGGG -3'

Sequencing Primer
(F):5'- CTCTGTGAACCTCAGTTTCCAGAG -3'
(R):5'- TCTACAGAGTGAGTTCCAGGAC -3'

Posted On

2014-07-14