Mutagenetix > Incidental Mutation

Incidental Mutation 'R7834:Slc2a8'

605829

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

MMRRC Submission

045888-MU

Accession Numbers

Essential gene?

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

Stock #

R7834 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32863002-32872095 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32866919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 227 (G227D)

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: G227D

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

SMART Domains

Protein: ENSMUSP00000028129
Gene: ENSMUSG00000026791
AA Change: G227D

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 damaging
Transcript: ENSMUST00000153484
AA Change: G227D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141959
Gene: ENSMUSG00000026791
AA Change: G227D

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

probably damaging
Transcript: ENSMUST00000193695
AA Change: G227D

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

SMART Domains

Protein: ENSMUSP00000142100
Gene: ENSMUSG00000026791
AA Change: G227D

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

silent
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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,115,068 (GRCm39)	I626N	probably damaging	Het
Abcc12	T	A	8: 87,258,179 (GRCm39)	Y779F	possibly damaging	Het
Abcc12	C	T	8: 87,284,859 (GRCm39)	C252Y	probably damaging	Het
Adam22	A	T	5: 8,180,535 (GRCm39)	C521S	probably damaging	Het
Adcy5	C	A	16: 34,977,570 (GRCm39)	H368N	probably benign	Het
Akap13	T	A	7: 75,392,390 (GRCm39)	I2411N	possibly damaging	Het
Ankrd12	A	G	17: 66,294,347 (GRCm39)	F339S	probably damaging	Het
Bmp1	T	A	14: 70,746,005 (GRCm39)	R153W	probably damaging	Het
Bmp6	T	C	13: 38,653,643 (GRCm39)	F237L	probably damaging	Het
Cacna1c	A	G	6: 118,587,542 (GRCm39)	S1628P		Het
Ccdc141	T	C	2: 76,889,889 (GRCm39)	R468G	possibly damaging	Het
Cdc40	A	T	10: 40,758,945 (GRCm39)	S43T	probably benign	Het
Celf4	A	G	18: 25,886,542 (GRCm39)	M48T	probably benign	Het
Clec4g	A	T	8: 3,766,500 (GRCm39)	M267K	probably damaging	Het
Col6a1	G	T	10: 76,545,762 (GRCm39)	S903R	unknown	Het
Creg2	A	G	1: 39,689,802 (GRCm39)	F103L	probably damaging	Het
Cul9	T	C	17: 46,836,630 (GRCm39)		probably null	Het
Dchs1	G	A	7: 105,414,774 (GRCm39)	A756V	probably benign	Het
Diaph1	G	A	18: 37,986,762 (GRCm39)		probably benign	Het
Dmxl1	G	A	18: 50,054,044 (GRCm39)	G2550D	probably damaging	Het
Dst	G	T	1: 34,233,186 (GRCm39)	R3396I	probably benign	Het
Dync2h1	T	C	9: 7,118,953 (GRCm39)	T2171A	probably benign	Het
Fgd2	C	T	17: 29,583,925 (GRCm39)	T113M	probably damaging	Het
Galnt6	G	T	15: 100,611,984 (GRCm39)	S219R	probably damaging	Het
Gbp6	T	A	5: 105,421,131 (GRCm39)	E558V	probably benign	Het
Gnas	A	T	2: 174,140,783 (GRCm39)	K377*	probably null	Het
Hars2	T	C	18: 36,922,634 (GRCm39)	I389T	probably damaging	Het
Hsp90ab1	T	C	17: 45,882,091 (GRCm39)	I123V	possibly damaging	Het
Igkv6-14	A	T	6: 70,411,992 (GRCm39)	N97K	possibly damaging	Het
Isg20	T	C	7: 78,569,867 (GRCm39)	L168P	probably damaging	Het
Kcna1	C	T	6: 126,619,703 (GRCm39)	D206N	probably benign	Het
Kcnn3	A	G	3: 89,428,661 (GRCm39)	I296V	probably damaging	Het
Kif18a	G	A	2: 109,127,119 (GRCm39)	R351H	probably damaging	Het
Klra5	A	T	6: 129,876,253 (GRCm39)		probably null	Het
Krt9	T	C	11: 100,083,492 (GRCm39)	T180A	probably benign	Het
Lhx8	T	C	3: 154,017,174 (GRCm39)	S323G	probably null	Het
Lpcat2	T	A	8: 93,644,729 (GRCm39)	L506H	possibly damaging	Het
Map2	A	G	1: 66,455,647 (GRCm39)	E1447G	probably damaging	Het
Mapk8ip2	A	T	15: 89,345,576 (GRCm39)	I779F	probably damaging	Het
Mcmdc2	G	A	1: 9,982,399 (GRCm39)		probably null	Het
Mrps15	G	A	4: 125,949,182 (GRCm39)	E217K	probably damaging	Het
Muc5b	G	A	7: 141,412,807 (GRCm39)	G1918R	unknown	Het
Mug2	T	C	6: 122,013,241 (GRCm39)	I336T	probably benign	Het
Myh10	T	C	11: 68,676,652 (GRCm39)	V878A	probably damaging	Het
Nomo1	T	C	7: 45,706,162 (GRCm39)		probably null	Het
Ogdhl	T	A	14: 32,062,666 (GRCm39)	I584N	probably benign	Het
Pdzrn3	G	A	6: 101,128,156 (GRCm39)	R837C	probably damaging	Het
Pkhd1	A	G	1: 20,382,273 (GRCm39)	M2626T	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Pnliprp2	T	C	19: 58,762,591 (GRCm39)	S399P	probably benign	Het
Prelp	T	C	1: 133,842,510 (GRCm39)	T212A	probably damaging	Het
Ptpn13	T	A	5: 103,610,014 (GRCm39)	S4T	probably damaging	Het
Ptprb	A	C	10: 116,175,329 (GRCm39)	E821A	probably benign	Het
Rabgap1	T	C	2: 37,359,419 (GRCm39)		probably benign	Het
Reln	C	T	5: 22,244,633 (GRCm39)	V782M	possibly damaging	Het
Rpl3l	T	C	17: 24,952,437 (GRCm39)	V52A	possibly damaging	Het
Rrp1b	T	C	17: 32,270,698 (GRCm39)	V219A	probably benign	Het
Rtn1	T	A	12: 72,350,806 (GRCm39)	I468F	probably damaging	Het
Safb	T	A	17: 56,900,881 (GRCm39)	M129K	unknown	Het
Sall1	C	A	8: 89,760,002 (GRCm39)	S34I	probably benign	Het
Slco4a1	G	T	2: 180,107,470 (GRCm39)	V295L	probably benign	Het
Slfn5	A	T	11: 82,851,278 (GRCm39)	Q525L	possibly damaging	Het
Speg	C	T	1: 75,361,571 (GRCm39)	T195M	probably damaging	Het
Syne2	A	T	12: 76,014,021 (GRCm39)	T3071S	probably benign	Het
Syngr1	G	T	15: 79,995,818 (GRCm39)	W119L	probably damaging	Het
Tenm2	A	G	11: 35,915,681 (GRCm39)	L1951P	probably damaging	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Ush2a	G	A	1: 188,465,637 (GRCm39)	W2735*	probably null	Het
Usp17lb	T	A	7: 104,490,718 (GRCm39)	T70S	probably damaging	Het
Vmn2r6	T	G	3: 64,445,443 (GRCm39)	N761H	probably damaging	Het
Vps13d	A	T	4: 144,835,143 (GRCm39)	I2741K		Het
Wdr38	A	T	2: 38,890,196 (GRCm39)	Q110L	possibly damaging	Het
Zfp872	A	G	9: 22,111,406 (GRCm39)	K295R	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
R5685:Slc2a8	UTSW	2	32,871,801 (GRCm39)	missense	possibly damaging	0.87
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
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'- AACTAAAGTGGGGCTCCAGC -3'
(R):5'- TATCATTGGAGTGAGTCCCGG -3'

Sequencing Primer
(F):5'- CCAACCCCCACCTGCTCAG -3'
(R):5'- GGCTCACCCTGGCTTTGAC -3'

Posted On

2019-12-20