Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02670:Slc2a13'

302889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc2a13

Ensembl Gene

Gene Name

solute carrier family 2 (facilitated glucose transporter), member 13

Synonyms

A630029G22Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02670

Quality Score

Status

Chromosome

Chromosomal Location

91267696-91573261 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91497509 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 259 (G259E)

Ref Sequence

ENSEMBL: ENSMUSP00000104906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109283]

Predicted Effect

probably damaging
Transcript: ENSMUST00000109283
AA Change: G259E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104906
Gene: ENSMUSG00000036298
AA Change: G259E

Domain	Start	End	E-Value	Type
low complexity region	36	54	N/A	INTRINSIC
Pfam:Sugar_tr	73	412	2e-87	PFAM
Pfam:MFS_1	77	411	6.6e-23	PFAM
Pfam:Sugar_tr	487	598	8.1e-28	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 36,967,305	Q2193*	probably null	Het
Asb1	T	C	1: 91,546,918		probably benign	Het
Cnot6	G	A	11: 49,685,114	Q178*	probably null	Het
Col5a1	C	T	2: 27,974,715	A737V	unknown	Het
Cyp27b1	T	C	10: 127,050,358	S303P	probably benign	Het
Dnah5	T	C	15: 28,409,296	L3620P	probably damaging	Het
Dock7	A	T	4: 98,966,286		probably null	Het
Fam161b	T	C	12: 84,357,594	D104G	probably benign	Het
Fam8a1	A	G	13: 46,673,604	M284V	possibly damaging	Het
Fkbp3	T	A	12: 65,069,103	K65*	probably null	Het
Gatb	A	G	3: 85,613,551		probably null	Het
Gm572	A	T	4: 148,651,228	H38L	probably benign	Het
Gm6576	A	C	15: 27,025,512		noncoding transcript	Het
L2hgdh	G	A	12: 69,692,480	R406W	possibly damaging	Het
Lmo7	A	T	14: 101,880,980	T214S	probably damaging	Het
Map3k12	T	C	15: 102,503,546	H361R	probably benign	Het
Mios	T	C	6: 8,235,378		probably benign	Het
Mta1	T	C	12: 113,130,121	L315P	probably damaging	Het
Pask	A	C	1: 93,310,818	V1315G	probably damaging	Het
Pias4	A	T	10: 81,164,070	C50S	probably damaging	Het
Rgs11	G	A	17: 26,207,631	V279I	probably benign	Het
Sgk1	T	A	10: 21,928,546	C92S	probably benign	Het
Slc5a4b	A	G	10: 76,075,100	C301R	probably damaging	Het
Sstr4	G	T	2: 148,396,533	G355*	probably null	Het
Tnrc6a	T	A	7: 123,171,312	L775Q	possibly damaging	Het
Vmn1r218	A	G	13: 23,137,004	I94V	probably benign	Het
Xpa	A	G	4: 46,185,682	F99L	probably benign	Het

Other mutations in Slc2a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Slc2a13	APN	15	91497399	missense	probably benign
IGL01295:Slc2a13	APN	15	91350132	critical splice acceptor site	probably null
IGL01863:Slc2a13	APN	15	91516492	missense	probably benign	0.00
IGL02149:Slc2a13	APN	15	91343721	missense	probably benign
IGL02692:Slc2a13	APN	15	91321658	missense	probably benign	0.23
IGL03307:Slc2a13	APN	15	91276114	missense	probably damaging	0.98
R0394:Slc2a13	UTSW	15	91516392	missense	probably damaging	1.00
R0624:Slc2a13	UTSW	15	91350012	missense	possibly damaging	0.89
R0698:Slc2a13	UTSW	15	91321667	missense	probably benign
R0702:Slc2a13	UTSW	15	91321667	missense	probably benign
R1052:Slc2a13	UTSW	15	91412160	missense	probably damaging	0.96
R2090:Slc2a13	UTSW	15	91516492	missense	probably benign	0.00
R2118:Slc2a13	UTSW	15	91516476	missense	probably damaging	0.99
R4445:Slc2a13	UTSW	15	91350020	missense	possibly damaging	0.46
R4896:Slc2a13	UTSW	15	91412212	missense	probably benign	0.20
R6028:Slc2a13	UTSW	15	91276116	missense	probably damaging	1.00
R6414:Slc2a13	UTSW	15	91343805	missense	probably benign	0.00
R6836:Slc2a13	UTSW	15	91321632	missense	probably benign	0.00
R6928:Slc2a13	UTSW	15	91276179	missense	probably damaging	1.00
R7353:Slc2a13	UTSW	15	91321604	missense	probably benign
R7423:Slc2a13	UTSW	15	91572680	missense	probably damaging	1.00
R7458:Slc2a13	UTSW	15	91412187	missense	probably benign	0.04
R7641:Slc2a13	UTSW	15	91272156	makesense	probably null
R8057:Slc2a13	UTSW	15	91516416	missense	probably damaging	0.99

Posted On

2015-04-16