Mutagenetix > Incidental Mutations

Incidental Mutation 'R4795:Slc2a1'

401881

Institutional Source

Beutler Lab

Gene Symbol

Slc2a1

Ensembl Gene

ENSMUSG00000028645

Gene Name

solute carrier family 2 (facilitated glucose transporter), member 1

Synonyms

Glut1, Glut-1

MMRRC Submission

041996-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4795 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119108711-119137983 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119132445 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 61 (R61Q)

Ref Sequence

ENSEMBL: ENSMUSP00000146958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030398] [ENSMUST00000134105] [ENSMUST00000144329] [ENSMUST00000174372] [ENSMUST00000208090]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030398
AA Change: R93Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030398
Gene: ENSMUSG00000028645
AA Change: R93Q

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	16	467	1e-164	PFAM
Pfam:MFS_1	24	418	1.6e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000134105
AA Change: R89Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118641
Gene: ENSMUSG00000028645
AA Change: R89Q

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	12	128	7.7e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143801

Predicted Effect

probably damaging
Transcript: ENSMUST00000144329
AA Change: R81Q

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134126
Gene: ENSMUSG00000028645
AA Change: R81Q

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	4	123	1.5e-35	PFAM
Pfam:MFS_1	5	123	3.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157927

Predicted Effect

probably damaging
Transcript: ENSMUST00000174372
AA Change: R93Q

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134714
Gene: ENSMUSG00000028645
AA Change: R93Q

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	16	173	9.3e-53	PFAM
Pfam:MFS_1	18	172	1.5e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000208090
AA Change: R61Q

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

Meta Mutation Damage Score

0.8165

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (123/125)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous null embryos are small, lack visibly detectable eyes, show a diminutive rostral embryonic pole and an overall developmental delay, and die at E10-E14. Heterozygotes show spontaneous seizures, impaired motor performance, hypoglycorrhachia, microencephaly, and reduced brain glucose uptake. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,176,123	L2259R	probably damaging	Het
Acd	A	G	8: 105,701,015	S2P	possibly damaging	Het
Acsf3	A	G	8: 122,780,157	Y63C	possibly damaging	Het
Adam21	T	C	12: 81,560,974	I5V	probably benign	Het
Adamts6	C	A	13: 104,444,128	S783*	probably null	Het
Adamtsl1	T	C	4: 86,243,769		probably null	Het
Adck2	T	A	6: 39,576,393	S313T	probably benign	Het
Adgb	A	G	10: 10,357,872	I1285T	probably benign	Het
Angptl1	T	A	1: 156,860,583	M485K	possibly damaging	Het
Ank3	G	A	10: 69,858,265	V289I	probably benign	Het
Atp13a4	A	G	16: 29,490,008		probably null	Het
Atp1a1	A	G	3: 101,583,775	L648P	probably benign	Het
Atp2a3	A	G	11: 72,973,029	I194V	probably benign	Het
Bglap	A	C	3: 88,384,405	I4S	unknown	Het
Cacna1b	T	A	2: 24,637,487	T1621S	possibly damaging	Het
Ccdc112	T	A	18: 46,287,672	Q337L	probably benign	Het
Cd34	T	G	1: 194,951,011	S194A	probably damaging	Het
Cdh20	A	G	1: 104,941,264	D160G	probably damaging	Het
Clock	T	C	5: 76,265,916	K44R	probably damaging	Het
Commd9	A	G	2: 101,898,896	N116D	probably benign	Het
Dab2	C	A	15: 6,429,611	P335T	probably benign	Het
Epb41l3	T	A	17: 69,248,719		probably null	Het
Epha2	A	G	4: 141,322,416		probably null	Het
Fam78b	T	C	1: 167,078,647	V125A	probably benign	Het
Fars2	A	T	13: 36,537,426	E448V	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Glyr1	A	C	16: 5,047,758	V44G	probably benign	Het
Gm1527	A	G	3: 28,920,663	I542V	possibly damaging	Het
Gm18856	C	A	13: 13,965,208		probably benign	Het
Gm44501	A	G	17: 40,578,714	K40E	probably benign	Het
Gm6583	A	G	5: 112,355,299	S180P	possibly damaging	Het
Hdhd5	T	C	6: 120,523,446	H97R	probably benign	Het
Hmcn1	A	G	1: 150,753,611	V965A	probably benign	Het
Hsf5	A	G	11: 87,635,620	M373V	probably benign	Het
Igbp1b	C	T	6: 138,657,805	E214K	probably benign	Het
Iigp1	T	A	18: 60,389,892	F27L	probably benign	Het
Isl1	T	C	13: 116,305,430	N89S	probably benign	Het
Itga1	C	A	13: 115,035,385	W61C	probably damaging	Het
Itga5	T	C	15: 103,347,760	R922G	probably benign	Het
Kbtbd3	G	A	9: 4,331,073	W482*	probably null	Het
Kcnq1	A	G	7: 143,182,757	T168A	probably benign	Het
Lrch3	A	G	16: 33,005,704	N631S	probably damaging	Het
Lrrk1	T	A	7: 66,262,665	I1716F	possibly damaging	Het
Ly75	T	C	2: 60,349,940	E631G	probably benign	Het
Map4	T	C	9: 110,035,263	S519P	probably benign	Het
Mkl1	C	T	15: 81,017,033	S419N	probably damaging	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Muc5b	A	G	7: 141,849,567	E755G	unknown	Het
Ncaph2	T	G	15: 89,370,807	V478G	probably damaging	Het
Ncbp1	A	G	4: 46,152,967	R247G	possibly damaging	Het
Necab1	G	T	4: 15,111,208	D73E	possibly damaging	Het
Nedd9	T	C	13: 41,317,900	K208E	probably benign	Het
Nfyb	A	T	10: 82,752,368		probably benign	Het
Nol4	T	C	18: 22,921,887	Q162R	probably damaging	Het
Nwd2	G	A	5: 63,805,433	D787N	probably benign	Het
Olfr2	C	T	7: 107,001,335	G175D	probably damaging	Het
Olfr205	C	T	16: 59,328,850	V220I	probably benign	Het
Olfr49	A	G	14: 54,282,547	M116T	probably damaging	Het
Olfr535	A	G	7: 140,493,007	D123G	probably damaging	Het
Olfr713	A	T	7: 107,036,914	Y253F	probably benign	Het
Olfr740	A	C	14: 50,453,417	M122L	probably damaging	Het
Olfr908	T	A	9: 38,516,503	M157K	probably damaging	Het
Orai3	T	C	7: 127,773,888	V187A	probably benign	Het
Parn	T	C	16: 13,606,202	T444A	probably benign	Het
Pcdh11x	A	C	X: 120,400,240	N460T	probably damaging	Het
Pcnt	C	T	10: 76,370,024	R2516H	probably benign	Het
Pde4d	T	A	13: 109,938,171		probably benign	Het
Pdgfra	A	G	5: 75,189,311	N952S	probably benign	Het
Pgm1	A	G	5: 64,103,874	Y237C	probably damaging	Het
Plcb2	A	G	2: 118,711,124	V975A	probably benign	Het
Polk	T	C	13: 96,489,256	T347A	probably benign	Het
Ppp6r1	C	T	7: 4,641,054	V430M	possibly damaging	Het
Ptges2	C	A	2: 32,396,322	C16*	probably null	Het
Relb	A	T	7: 19,619,839	I38N	probably damaging	Het
Runx1t1	T	A	4: 13,837,767	N51K	probably damaging	Het
Samsn1	A	G	16: 75,883,845		probably benign	Het
Scrn1	A	G	6: 54,520,769	V279A	possibly damaging	Het
Sec31b	A	G	19: 44,531,746	S200P	probably benign	Het
Selp	A	G	1: 164,144,906	T705A	probably benign	Het
Slit3	G	A	11: 35,651,820		probably null	Het
Smo	T	A	6: 29,755,574	V415E	probably damaging	Het
Spag8	C	A	4: 43,652,035	V350L	possibly damaging	Het
Tbck	T	G	3: 132,707,798	L132R	possibly damaging	Het
Thnsl1	T	A	2: 21,212,045	C203*	probably null	Het
Tm9sf2	T	A	14: 122,149,840		probably null	Het
Tmem131	A	G	1: 36,841,676	V171A	probably damaging	Het
Tmem209	T	C	6: 30,501,955	T83A	probably benign	Het
Tmem63a	T	C	1: 180,954,851	Y138H	probably damaging	Het
Trim80	A	G	11: 115,447,943	Y533C	probably damaging	Het
Trpv2	A	G	11: 62,581,180	D66G	possibly damaging	Het
Trrap	T	A	5: 144,832,488	I2620N	probably benign	Het
Ttyh3	A	T	5: 140,634,786	I232N	probably damaging	Het
Ube2dnl1	G	A	X: 114,905,785	C119Y	possibly damaging	Het
Unc13c	T	A	9: 73,932,187	S461C	probably damaging	Het
Unc80	T	G	1: 66,527,941	I902S	probably damaging	Het
Usp42	C	A	5: 143,723,937	G170W	probably damaging	Het
Vldlr	T	C	19: 27,238,852		probably null	Het
Ywhab	A	G	2: 164,015,345	Y180C	probably damaging	Het
Zan	A	T	5: 137,380,850	C5329*	probably null	Het
Zbtb40	C	T	4: 136,998,642	M535I	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfp318	A	G	17: 46,412,062	T1664A	probably benign	Het
Zfp7	T	A	15: 76,891,346	C529*	probably null	Het
Zfp768	T	C	7: 127,343,375	Q527R	possibly damaging	Het
Zfp975	T	A	7: 42,665,146		probably null	Het

Other mutations in Slc2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Slc2a1	APN	4	119132238	missense	possibly damaging	0.94
IGL01876:Slc2a1	APN	4	119133378	missense	probably benign	0.11
IGL02355:Slc2a1	APN	4	119136415	missense	possibly damaging	0.61
IGL02362:Slc2a1	APN	4	119136415	missense	possibly damaging	0.61
R1076:Slc2a1	UTSW	4	119134448	missense	probably damaging	0.98
R1561:Slc2a1	UTSW	4	119136409	missense	possibly damaging	0.86
R1616:Slc2a1	UTSW	4	119136306	missense	probably damaging	1.00
R3015:Slc2a1	UTSW	4	119132143	missense	probably damaging	1.00
R4166:Slc2a1	UTSW	4	119133116	missense	probably damaging	0.97
R4796:Slc2a1	UTSW	4	119132445	missense	probably damaging	0.99
R6025:Slc2a1	UTSW	4	119136342	missense	possibly damaging	0.68
R7403:Slc2a1	UTSW	4	119132555	missense	probably damaging	1.00
R7429:Slc2a1	UTSW	4	119136313	missense	probably damaging	1.00
R7430:Slc2a1	UTSW	4	119136313	missense	probably damaging	1.00
R7524:Slc2a1	UTSW	4	119132612	missense	probably damaging	1.00
R7692:Slc2a1	UTSW	4	119136265	missense	probably damaging	1.00
R7768:Slc2a1	UTSW	4	119132447	missense	probably damaging	1.00
R7845:Slc2a1	UTSW	4	119135928	missense	possibly damaging	0.91
R8236:Slc2a1	UTSW	4	119133257	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGCTTTGGCAGGTAAGCAAG -3'
(R):5'- AGGATGCCAACGACGATTC -3'

Sequencing Primer
(F):5'- TAAGCAAGAAAGGCTCCAGC -3'
(R):5'- TCCACGTAGAGCTGTAGGTGAC -3'

Posted On

2016-07-15