Mutagenetix > Incidental Mutation

Incidental Mutation 'R7430:Slc2a1'

576384

Institutional Source

Beutler Lab

Gene Symbol

Slc2a1

Ensembl Gene

ENSMUSG00000028645

Gene Name

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

Synonyms

Glut-1, Glut1, M100200, Rgsc200

MMRRC Submission

045508-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7430 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118965942-118994527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118993510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 449 (Y449C)

Ref Sequence

ENSEMBL: ENSMUSP00000030398 (fasta)

Gene Model

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

AlphaFold

P17809

Predicted Effect

probably damaging
Transcript: ENSMUST00000030398
AA Change: Y449C

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

SMART Domains

Protein: ENSMUSP00000030398
Gene: ENSMUSG00000028645
AA Change: Y449C

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 benign
Transcript: ENSMUST00000134105

SMART Domains

Protein: ENSMUSP00000118641
Gene: ENSMUSG00000028645

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144329

SMART Domains

Protein: ENSMUSP00000134126
Gene: ENSMUSG00000028645

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

probably benign
Transcript: ENSMUST00000174372

SMART Domains

Protein: ENSMUSP00000134714
Gene: ENSMUSG00000028645

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 benign
Transcript: ENSMUST00000208090

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	C	17: 24,583,932 (GRCm39)		probably null	Het
Ankrd17	C	G	5: 90,443,516 (GRCm39)	E384Q	possibly damaging	Het
Atp8b4	A	T	2: 126,245,291 (GRCm39)	V286E	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCTCTGGTTCTGTGGTC	3: 95,795,481 (GRCm39)		probably benign	Het
Brms1l	T	C	12: 55,892,084 (GRCm39)	L126P	probably damaging	Het
C2cd4d	G	A	3: 94,271,657 (GRCm39)	V308M	possibly damaging	Het
Calcr	A	G	6: 3,708,586 (GRCm39)	L200S	probably damaging	Het
Card6	G	T	15: 5,128,682 (GRCm39)	Q905K	probably benign	Het
Chka	A	G	19: 3,942,787 (GRCm39)	Y415C	probably damaging	Het
Cimap3	T	C	3: 105,921,834 (GRCm39)	R30G	probably benign	Het
Cnih1	C	T	14: 47,017,679 (GRCm39)	V52I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,770 (GRCm39)	M145K	probably damaging	Het
Cubn	G	T	2: 13,327,804 (GRCm39)	R2674S	possibly damaging	Het
Cyfip1	A	G	7: 55,550,341 (GRCm39)	E692G	probably damaging	Het
Dnah8	T	C	17: 30,925,363 (GRCm39)	F1266S	probably damaging	Het
Edc4	T	C	8: 106,618,216 (GRCm39)	S1245P	probably damaging	Het
Enpp1	G	T	10: 24,587,848 (GRCm39)	H14Q	probably benign	Het
Fam181b	G	A	7: 92,729,403 (GRCm39)	V59M	probably benign	Het
Fat4	T	A	3: 38,941,599 (GRCm39)	I164N	probably damaging	Het
Fat4	A	G	3: 39,063,793 (GRCm39)	D4583G	probably damaging	Het
Fgb	C	T	3: 82,954,014 (GRCm39)	V75I	probably benign	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Frmd3	A	G	4: 74,063,342 (GRCm39)	D223G	probably damaging	Het
Gclm	G	A	3: 122,039,729 (GRCm39)	R32Q	probably benign	Het
Grsf1	A	T	5: 88,811,086 (GRCm39)	I428N	possibly damaging	Het
Hnrnpll	T	A	17: 80,357,276 (GRCm39)	I247F	probably damaging	Het
Hscb	T	A	5: 110,977,024 (GRCm39)	I223L	probably benign	Het
Ifi204	C	T	1: 173,583,247 (GRCm39)	A324T	probably benign	Het
Itgav	G	A	2: 83,624,602 (GRCm39)	V731M	probably damaging	Het
Loricrin	C	T	3: 91,989,206 (GRCm39)	G27S	unknown	Het
Lpin3	A	G	2: 160,740,586 (GRCm39)	D377G	probably benign	Het
Marveld3	A	G	8: 110,675,100 (GRCm39)	S239P	possibly damaging	Het
Mast3	A	C	8: 71,232,947 (GRCm39)	C1122G	probably damaging	Het
Ms4a4d	A	G	19: 11,535,297 (GRCm39)	I198M	probably benign	Het
Mup14	C	T	4: 61,259,447 (GRCm39)	G35E	probably damaging	Het
Myh1	C	T	11: 67,096,393 (GRCm39)	Q291*	probably null	Het
Myo1a	T	A	10: 127,542,716 (GRCm39)	V118E	probably damaging	Het
Nfatc3	A	G	8: 106,835,035 (GRCm39)	T794A	probably benign	Het
Nkx6-2	T	C	7: 139,161,916 (GRCm39)	T154A	probably damaging	Het
Or51g2	A	T	7: 102,622,969 (GRCm39)	S77T	probably damaging	Het
Or7g16	T	C	9: 18,726,650 (GRCm39)	*313W	probably null	Het
Ovgp1	G	C	3: 105,893,618 (GRCm39)	A464P	probably damaging	Het
Ovgp1	C	T	3: 105,893,619 (GRCm39)	A464V	possibly damaging	Het
Pde6c	T	A	19: 38,129,887 (GRCm39)	Y266N	probably damaging	Het
Per2	C	A	1: 91,351,705 (GRCm39)	E934*	probably null	Het
Pgm1	T	A	4: 99,813,192 (GRCm39)	M1K	probably null	Het
Plcb4	T	C	2: 135,810,242 (GRCm39)	Y626H	probably damaging	Het
Postn	T	A	3: 54,277,623 (GRCm39)	V206D	probably damaging	Het
Prss29	T	A	17: 25,540,113 (GRCm39)		probably null	Het
Ptges3l	C	A	11: 101,314,641 (GRCm39)	V85L	possibly damaging	Het
Riok2	T	C	17: 17,607,802 (GRCm39)	L450S	probably benign	Het
Rpap3	A	T	15: 97,586,031 (GRCm39)	L320Q	possibly damaging	Het
Rptor	T	C	11: 119,737,654 (GRCm39)	W576R	probably damaging	Het
Sgk3	A	G	1: 9,942,483 (GRCm39)	D85G	probably benign	Het
Slco1a5	A	T	6: 142,194,438 (GRCm39)	S402T	probably benign	Het
Smad2	T	A	18: 76,421,151 (GRCm39)	V160E	probably damaging	Het
Snx13	T	C	12: 35,183,357 (GRCm39)	V760A	possibly damaging	Het
Sugt1	T	A	14: 79,857,241 (GRCm39)		probably null	Het
Syne2	C	T	12: 75,980,770 (GRCm39)	T1509M	probably damaging	Het
Syne2	T	A	12: 76,087,184 (GRCm39)	L214*	probably null	Het
Tmem120a	T	A	5: 135,764,990 (GRCm39)		probably null	Het
Tmem161b	A	G	13: 84,430,866 (GRCm39)		probably null	Het
Trim33	T	C	3: 103,218,219 (GRCm39)	I256T	possibly damaging	Het
Tspan17	G	A	13: 54,943,785 (GRCm39)	E213K	probably benign	Het
Ttc6	T	A	12: 57,704,888 (GRCm39)	I631N	probably benign	Het
Ttn	T	A	2: 76,641,283 (GRCm39)	L13574F	probably damaging	Het
Tufm	A	G	7: 126,088,299 (GRCm39)	D228G	probably benign	Het
Usf1	T	A	1: 171,245,295 (GRCm39)	S236T	probably benign	Het
Usp39	T	C	6: 72,319,900 (GRCm39)	Y106C	probably damaging	Het
Usp46	T	A	5: 74,163,849 (GRCm39)	Y296F	probably damaging	Het
Vmn2r82	A	G	10: 79,217,087 (GRCm39)	N473S	probably damaging	Het
Washc5	A	T	15: 59,241,762 (GRCm39)	Y51*	probably null	Het
Zbtb47	G	A	9: 121,592,732 (GRCm39)	D351N	probably benign	Het
Zfp763	T	A	17: 33,238,506 (GRCm39)	Y213F	possibly damaging	Het
Zswim5	A	G	4: 116,833,054 (GRCm39)	T596A	possibly damaging	Het

Other mutations in Slc2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01404:Slc2a1	APN	4	118,989,435 (GRCm39)	missense	possibly damaging	0.94
IGL01876:Slc2a1	APN	4	118,990,575 (GRCm39)	missense	probably benign	0.11
IGL02355:Slc2a1	APN	4	118,993,612 (GRCm39)	missense	possibly damaging	0.61
IGL02362:Slc2a1	APN	4	118,993,612 (GRCm39)	missense	possibly damaging	0.61
R1076:Slc2a1	UTSW	4	118,991,645 (GRCm39)	missense	probably damaging	0.98
R1561:Slc2a1	UTSW	4	118,993,606 (GRCm39)	missense	possibly damaging	0.86
R1616:Slc2a1	UTSW	4	118,993,503 (GRCm39)	missense	probably damaging	1.00
R3015:Slc2a1	UTSW	4	118,989,340 (GRCm39)	missense	probably damaging	1.00
R4166:Slc2a1	UTSW	4	118,990,313 (GRCm39)	missense	probably damaging	0.97
R4795:Slc2a1	UTSW	4	118,989,642 (GRCm39)	missense	probably damaging	0.99
R4796:Slc2a1	UTSW	4	118,989,642 (GRCm39)	missense	probably damaging	0.99
R6025:Slc2a1	UTSW	4	118,993,539 (GRCm39)	missense	possibly damaging	0.68
R7403:Slc2a1	UTSW	4	118,989,752 (GRCm39)	missense	probably damaging	1.00
R7429:Slc2a1	UTSW	4	118,993,510 (GRCm39)	missense	probably damaging	1.00
R7524:Slc2a1	UTSW	4	118,989,809 (GRCm39)	missense	probably damaging	1.00
R7692:Slc2a1	UTSW	4	118,993,462 (GRCm39)	missense	probably damaging	1.00
R7768:Slc2a1	UTSW	4	118,989,644 (GRCm39)	missense	probably damaging	1.00
R7845:Slc2a1	UTSW	4	118,993,125 (GRCm39)	missense	possibly damaging	0.91
R8236:Slc2a1	UTSW	4	118,990,454 (GRCm39)	missense	probably benign	0.00
R9037:Slc2a1	UTSW	4	118,993,494 (GRCm39)	missense	probably damaging	1.00
R9275:Slc2a1	UTSW	4	118,990,607 (GRCm39)	missense	probably benign	0.05
R9278:Slc2a1	UTSW	4	118,990,607 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGGTTTTCATAGCACCTCTGGG -3'
(R):5'- AGGTCTCATCTAGCTGCCTGTG -3'

Sequencing Primer
(F):5'- ACCTCTGGGTGGCGGTC -3'
(R):5'- CTGTGCTCCAGAGAGATCCTTG -3'

Posted On

2019-10-07