Mutagenetix > Incidental Mutation

Incidental Mutation 'R5685:Slc2a8'

443262

Institutional Source

Beutler Lab

Gene Symbol

Slc2a8

Ensembl Gene

ENSMUSG00000026791

Gene Name

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

Synonyms

GLUT8, GlutX1, D2Ertd44e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R5685 (G1)

Quality Score

155

Status

Not validated

Chromosome

Chromosomal Location

32863002-32872095 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32871801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 51 (I51V)

Ref Sequence

ENSEMBL: ENSMUSP00000028129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028129] [ENSMUST00000049618] [ENSMUST00000102810] [ENSMUST00000137381] [ENSMUST00000153484] [ENSMUST00000193695] [ENSMUST00000195863] [ENSMUST00000194066]

AlphaFold

Q9JIF3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028129
AA Change: I51V

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028129
Gene: ENSMUSG00000026791
AA Change: I51V

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

probably benign
Transcript: ENSMUST00000049618

SMART Domains

Protein: ENSMUSP00000057582
Gene: ENSMUSG00000038860

Domain	Start	End	E-Value	Type
Pfam:Rap_GAP	202	383	3.4e-73	PFAM
Pfam:CNH	475	780	3.5e-67	PFAM
low complexity region	793	804	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102810

SMART Domains

Protein: ENSMUSP00000099874
Gene: ENSMUSG00000038860

Domain	Start	End	E-Value	Type
Pfam:Rap_GAP	198	385	4.6e-67	PFAM
Pfam:CNH	471	776	1.8e-68	PFAM
low complexity region	789	800	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130769

Predicted Effect

probably benign
Transcript: ENSMUST00000137381

Predicted Effect

probably benign
Transcript: ENSMUST00000153484
AA Change: I51V

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000141959
Gene: ENSMUSG00000026791
AA Change: I51V

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

possibly damaging
Transcript: ENSMUST00000193695
AA Change: I51V

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142100
Gene: ENSMUSG00000026791
AA Change: I51V

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: ENSMUST00000195863

SMART Domains

Protein: ENSMUSP00000141879
Gene: ENSMUSG00000026791

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

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 43,879,974 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,896,348 (GRCm39)		probably null	Het
Abcg1	G	T	17: 31,317,260 (GRCm39)	E191*	probably null	Het
Als2	A	G	1: 59,218,250 (GRCm39)	Y1263H	possibly damaging	Het
Amer2	T	A	14: 60,617,026 (GRCm39)	L281*	probably null	Het
Anxa6	T	C	11: 54,887,196 (GRCm39)	N361D	probably benign	Het
Ap1g1	A	T	8: 110,564,415 (GRCm39)	N320I	probably damaging	Het
Aqr	T	C	2: 113,986,746 (GRCm39)	D208G	possibly damaging	Het
Arnt2	T	C	7: 83,912,473 (GRCm39)	T545A	probably benign	Het
Aspm	G	A	1: 139,415,026 (GRCm39)	V2701I	probably benign	Het
Atad2	A	G	15: 57,980,194 (GRCm39)	V106A	possibly damaging	Het
Bbs2	A	C	8: 94,814,061 (GRCm39)	F186V	probably damaging	Het
Catsperg2	G	A	7: 29,400,613 (GRCm39)	P247L	probably damaging	Het
Cfap57	G	T	4: 118,426,656 (GRCm39)	Q1098K	probably benign	Het
Cxcr6	A	G	9: 123,639,811 (GRCm39)	T271A	probably benign	Het
Dock1	A	G	7: 134,374,091 (GRCm39)	E579G	probably benign	Het
Frem3	A	G	8: 81,421,932 (GRCm39)	T2111A	probably damaging	Het
Galnt1	A	T	18: 24,397,586 (GRCm39)	D229V	possibly damaging	Het
Gbp2b	A	C	3: 142,313,919 (GRCm39)	M400L	probably benign	Het
Gm1123	T	A	9: 98,891,486 (GRCm39)		probably null	Het
Gtpbp6	T	C	5: 110,252,805 (GRCm39)	H349R	probably damaging	Het
Hyal5	A	G	6: 24,876,691 (GRCm39)	K188R	probably benign	Het
Insrr	T	C	3: 87,707,803 (GRCm39)		probably null	Het
Kcnn1	A	T	8: 71,305,374 (GRCm39)	C322S	probably damaging	Het
Kdelr1	GTCTA	G	7: 45,531,041 (GRCm39)		probably null	Het
Kif23	T	C	9: 61,852,691 (GRCm39)	T8A	probably benign	Het
Lrrk2	A	T	15: 91,687,504 (GRCm39)	R2198*	probably null	Het
Mcl1	T	G	3: 95,567,109 (GRCm39)	D177E	possibly damaging	Het
Mrps11	A	T	7: 78,441,628 (GRCm39)	T137S	probably benign	Het
Mtbp	A	G	15: 55,426,168 (GRCm39)	Y90C	probably damaging	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nxt1	G	T	2: 148,517,673 (GRCm39)	W138L	possibly damaging	Het
Or5al1	T	C	2: 85,990,139 (GRCm39)	T192A	probably damaging	Het
Or5h17	T	A	16: 58,820,709 (GRCm39)	F220L	probably benign	Het
Or5t17	T	A	2: 86,832,621 (GRCm39)	S103T	probably benign	Het
Osbpl7	C	A	11: 96,951,103 (GRCm39)	P478H	probably damaging	Het
Phf8-ps	T	A	17: 33,285,746 (GRCm39)	H352L	probably benign	Het
Pitpna	T	A	11: 75,511,095 (GRCm39)	F222I	probably damaging	Het
Plekhh2	A	T	17: 84,877,310 (GRCm39)	R552W	probably damaging	Het
Plxnb2	C	T	15: 89,051,235 (GRCm39)	R328H	probably damaging	Het
Pmaip1	C	T	18: 66,594,055 (GRCm39)	T65I	probably benign	Het
Ppil4	T	G	10: 7,674,186 (GRCm39)	I110S	probably damaging	Het
Prpf38a	A	G	4: 108,427,351 (GRCm39)		probably null	Het
Psme4	G	A	11: 30,759,837 (GRCm39)	G320D	probably damaging	Het
Rab17	C	A	1: 90,886,679 (GRCm39)	R191L	probably benign	Het
Rhag	A	T	17: 41,142,222 (GRCm39)	M222L	possibly damaging	Het
Rims2	A	T	15: 39,300,602 (GRCm39)	H111L	possibly damaging	Het
Setx	T	C	2: 29,061,292 (GRCm39)	Y2234H	probably damaging	Het
Slc34a1	T	C	13: 55,549,085 (GRCm39)		probably null	Het
Slf1	T	C	13: 77,231,598 (GRCm39)	T594A	possibly damaging	Het
Sox6	A	T	7: 115,178,392 (GRCm39)		probably null	Het
Spata13	C	T	14: 60,928,652 (GRCm39)	S70L	probably benign	Het
Stard13	A	G	5: 150,986,592 (GRCm39)	I188T	possibly damaging	Het
Stard9	A	G	2: 120,535,803 (GRCm39)	D4020G	probably damaging	Het
Tdp1	A	G	12: 99,868,611 (GRCm39)	K255R	possibly damaging	Het
Tns2	G	T	15: 102,015,538 (GRCm39)	A124S	probably benign	Het
Top2b	T	A	14: 16,413,666 (GRCm38)	W1045R	probably damaging	Het
Trav12-2	T	C	14: 53,854,122 (GRCm39)	V32A	probably damaging	Het
Vps13c	G	T	9: 67,870,455 (GRCm39)	R3198L	possibly damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp52	T	A	17: 21,782,013 (GRCm39)	S620R	probably benign	Het
Zfp62	T	A	11: 49,107,044 (GRCm39)	C378*	probably null	Het
Zfp638	C	A	6: 83,906,969 (GRCm39)	P378H	probably damaging	Het

Other mutations in Slc2a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Slc2a8	APN	2	32,863,636 (GRCm39)	missense	probably damaging	0.99
IGL01341:Slc2a8	APN	2	32,866,003 (GRCm39)	missense	probably damaging	1.00
R0063:Slc2a8	UTSW	2	32,870,011 (GRCm39)	splice site	probably null
R0063:Slc2a8	UTSW	2	32,870,011 (GRCm39)	splice site	probably null
R0243:Slc2a8	UTSW	2	32,870,116 (GRCm39)	intron	probably benign
R0530:Slc2a8	UTSW	2	32,863,696 (GRCm39)	missense	probably benign	0.32
R0972:Slc2a8	UTSW	2	32,865,379 (GRCm39)	missense	probably benign
R1919:Slc2a8	UTSW	2	32,870,091 (GRCm39)	missense	probably damaging	1.00
R2015:Slc2a8	UTSW	2	32,871,392 (GRCm39)	missense	probably benign	0.01
R2893:Slc2a8	UTSW	2	32,864,966 (GRCm39)	missense	probably damaging	1.00
R5144:Slc2a8	UTSW	2	32,871,785 (GRCm39)	missense	probably damaging	0.96
R5744:Slc2a8	UTSW	2	32,866,040 (GRCm39)	missense	probably benign	0.00
R6717:Slc2a8	UTSW	2	32,866,189 (GRCm39)	missense	probably damaging	1.00
R7828:Slc2a8	UTSW	2	32,870,080 (GRCm39)	nonsense	probably null
R7834:Slc2a8	UTSW	2	32,866,919 (GRCm39)	missense	probably damaging	1.00
R8397:Slc2a8	UTSW	2	32,866,010 (GRCm39)	missense	probably benign
R9091:Slc2a8	UTSW	2	32,864,864 (GRCm39)	missense	probably damaging	1.00
R9270:Slc2a8	UTSW	2	32,864,864 (GRCm39)	missense	probably damaging	1.00
X0061:Slc2a8	UTSW	2	32,865,460 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGATGACAGCAAAGCCAGTC -3'
(R):5'- AGCATCCCATTGGTCACTCC -3'

Sequencing Primer
(F):5'- AAGAGGCTCAGCTTGCG -3'
(R):5'- ATTGGTCACTCCTGCAGCG -3'

Posted On

2016-11-09