Mutagenetix > Incidental Mutation

Incidental Mutation 'R7768:Slc2a1'

598365

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

045824-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7768 (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 118989644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 94 (N94D)

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: N94D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030398
Gene: ENSMUSG00000028645
AA Change: N94D

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: N90D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118641
Gene: ENSMUSG00000028645
AA Change: N90D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000144329
AA Change: N82D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134126
Gene: ENSMUSG00000028645
AA Change: N82D

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 damaging
Transcript: ENSMUST00000174372
AA Change: N94D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134714
Gene: ENSMUSG00000028645
AA Change: N94D

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: N62D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	A	G	13: 12,297,480 (GRCm39)	V479A	possibly damaging	Het
Acy1	G	A	9: 106,310,817 (GRCm39)	T317M	possibly damaging	Het
Adgrg6	A	T	10: 14,307,410 (GRCm39)	D797E	probably benign	Het
Ank1	C	T	8: 23,588,013 (GRCm39)	A552V	probably benign	Het
Ankrd13c	A	G	3: 157,694,284 (GRCm39)	T262A	probably benign	Het
Ap4e1	A	T	2: 126,888,854 (GRCm39)	N468Y	probably damaging	Het
Apbb1	T	C	7: 105,216,295 (GRCm39)	I367V	probably benign	Het
Arl6	A	G	16: 59,452,699 (GRCm39)	I33T	probably damaging	Het
Asgr2	T	C	11: 69,996,242 (GRCm39)	I228T	probably damaging	Het
Aspn	A	G	13: 49,710,871 (GRCm39)	H172R	probably damaging	Het
Bclaf1	T	A	10: 20,215,517 (GRCm39)	F868L	probably benign	Het
Cacna1i	G	A	15: 80,265,389 (GRCm39)	R1547H	probably damaging	Het
Celsr1	G	T	15: 85,816,610 (GRCm39)	Q1778K	probably benign	Het
Cep250	T	C	2: 155,827,929 (GRCm39)	L42S		Het
Clnk	C	A	5: 38,925,501 (GRCm39)	R100L	probably damaging	Het
Cpvl	A	G	6: 53,873,476 (GRCm39)	V420A	possibly damaging	Het
Dicer1	C	A	12: 104,672,956 (GRCm39)	G825V	probably damaging	Het
Dmxl2	T	C	9: 54,288,223 (GRCm39)	Y2628C	probably damaging	Het
Dnah7b	T	A	1: 46,176,634 (GRCm39)	H751Q	probably benign	Het
Dnhd1	C	A	7: 105,370,302 (GRCm39)	R4576S	possibly damaging	Het
Dzip1	A	T	14: 119,116,910 (GRCm39)	D775E	probably benign	Het
Erich3	T	A	3: 154,453,968 (GRCm39)	M381K	probably benign	Het
Fam193a	A	G	5: 34,623,135 (GRCm39)	D1241G	possibly damaging	Het
Gbx2	A	G	1: 89,856,706 (GRCm39)	L228P	probably benign	Het
Ggt7	A	T	2: 155,348,421 (GRCm39)	M77K	possibly damaging	Het
Gpr26	T	A	7: 131,576,077 (GRCm39)	I247K	probably damaging	Het
Grip1	A	G	10: 119,874,302 (GRCm39)	T745A	probably damaging	Het
Gusb	A	T	5: 130,029,246 (GRCm39)	H178Q	probably benign	Het
Hacl1	T	C	14: 31,338,437 (GRCm39)	Y380C	probably damaging	Het
Hdac9	T	C	12: 34,440,239 (GRCm39)	H380R	possibly damaging	Het
Icam4	T	A	9: 20,941,290 (GRCm39)	L143Q	probably damaging	Het
Ikbkb	T	A	8: 23,185,252 (GRCm39)	I43F	probably damaging	Het
Ints11	G	T	4: 155,971,396 (GRCm39)	K303N	probably damaging	Het
Itpa	A	T	2: 130,509,836 (GRCm39)	N16I	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kat6a	T	A	8: 23,393,228 (GRCm39)	N235K	probably damaging	Het
Kmt2a	C	T	9: 44,731,900 (GRCm39)	V2806I	unknown	Het
Loxhd1	T	A	18: 77,472,637 (GRCm39)	F1051L	probably damaging	Het
Map2	A	G	1: 66,453,642 (GRCm39)	E844G	possibly damaging	Het
Mmp7	T	A	9: 7,697,749 (GRCm39)	Y261*	probably null	Het
Muc4	A	C	16: 32,576,568 (GRCm39)	M2023L	unknown	Het
Mybpc1	C	A	10: 88,378,234 (GRCm39)	G688V	probably damaging	Het
Myo3a	A	G	2: 22,245,954 (GRCm39)	T34A	probably damaging	Het
Nrxn2	A	G	19: 6,531,409 (GRCm39)	T683A	possibly damaging	Het
Nup160	A	G	2: 90,530,460 (GRCm39)	I444V	probably damaging	Het
Or2t29	A	T	11: 58,433,466 (GRCm39)	S292T	probably damaging	Het
Or2t29	A	T	11: 58,433,693 (GRCm39)	M216K	possibly damaging	Het
Or4f4-ps1	A	C	2: 111,330,198 (GRCm39)	K200N	possibly damaging	Het
Or8w1	T	C	2: 87,465,657 (GRCm39)	M145V	probably benign	Het
Pcdha1	A	G	18: 37,065,220 (GRCm39)	E628G	probably damaging	Het
Pcdha12	T	C	18: 37,155,404 (GRCm39)	S708P	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Pkd1l2	A	G	8: 117,781,599 (GRCm39)		probably null	Het
Pla2g6	T	C	15: 79,181,514 (GRCm39)	D577G	probably damaging	Het
Pla2r1	G	T	2: 60,279,290 (GRCm39)	D763E	probably benign	Het
Pramel18	A	C	4: 101,769,010 (GRCm39)	I454L	probably benign	Het
Psg18	A	T	7: 18,079,953 (GRCm39)	I416N	probably damaging	Het
Rapgef6	G	T	11: 54,517,414 (GRCm39)	V369F	probably damaging	Het
Rasal3	T	C	17: 32,615,767 (GRCm39)	E357G	probably damaging	Het
Rhbdl3	G	A	11: 80,221,447 (GRCm39)	R195Q	probably benign	Het
Rnf216	A	T	5: 143,084,199 (GRCm39)	M1K	probably null	Het
Rspry1	C	A	8: 95,356,469 (GRCm39)	D165E	probably damaging	Het
Rwdd2b	G	A	16: 87,233,633 (GRCm39)	L156F	probably benign	Het
Scn11a	T	A	9: 119,644,338 (GRCm39)	I141F	probably benign	Het
Sirt2	A	T	7: 28,482,284 (GRCm39)	T198S	probably benign	Het
Slc33a1	A	G	3: 63,855,039 (GRCm39)	F407S	possibly damaging	Het
Slc38a4	A	C	15: 96,906,545 (GRCm39)	L356R	probably damaging	Het
Slc43a1	T	A	2: 84,687,215 (GRCm39)	L372Q	probably damaging	Het
Slc6a6	T	A	6: 91,716,946 (GRCm39)	I274N	probably damaging	Het
Smchd1	C	T	17: 71,718,906 (GRCm39)	G821D	probably damaging	Het
Spata33	T	C	8: 123,941,146 (GRCm39)	F65S	unknown	Het
Spmip5	A	T	19: 58,781,174 (GRCm39)	Y25N	probably damaging	Het
Stx19	A	G	16: 62,642,567 (GRCm39)	T128A	probably benign	Het
Tas2r103	T	C	6: 133,013,812 (GRCm39)	M85V	probably benign	Het
Tas2r117	C	T	6: 132,780,485 (GRCm39)	L208F	probably damaging	Het
Tcirg1	A	T	19: 3,952,900 (GRCm39)	I233N	possibly damaging	Het
Uba6	C	A	5: 86,300,779 (GRCm39)	W192L	probably benign	Het
Ube3a	T	C	7: 58,938,525 (GRCm39)	I761T	probably damaging	Het
Unc80	T	C	1: 66,549,754 (GRCm39)	S671P	possibly damaging	Het
Usp8	A	G	2: 126,593,043 (GRCm39)	Q766R	probably damaging	Het
Vmn2r103	A	G	17: 20,032,314 (GRCm39)	N696S	probably damaging	Het
Vmn2r14	G	A	5: 109,368,086 (GRCm39)	T302I	probably benign	Het
Vmn2r50	G	A	7: 9,771,298 (GRCm39)	A801V	probably damaging	Het
Vmn2r85	T	G	10: 130,254,562 (GRCm39)	Q707H	probably damaging	Het
Wsb2	G	A	5: 117,501,787 (GRCm39)	V51M	probably benign	Het
Xdh	T	C	17: 74,246,831 (GRCm39)	T78A	probably benign	Het
Zfp442	T	C	2: 150,250,241 (GRCm39)	K554E	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
R7430: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
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'- ATCGCTTTGGCAGGTAAGCAAG -3'
(R):5'- AGGATGCCAACGACGATTCC -3'

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

Posted On

2019-11-26