Mutagenetix > Incidental Mutation

Incidental Mutation 'R8520:Slc2a13'

658610

Institutional Source

Beutler Lab

Gene Symbol

Slc2a13

Ensembl Gene

ENSMUSG00000036298

Gene Name

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

Synonyms

A630029G22Rik

MMRRC Submission

067947-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8520 (G1)

Quality Score

107.008

Status

Validated

Chromosome

Chromosomal Location

91151899-91457464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91457105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 66 (T66S)

Ref Sequence

ENSEMBL: ENSMUSP00000104906 (fasta)

Gene Model

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

AlphaFold

Q3UHK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000109283
AA Change: T66S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104906
Gene: ENSMUSG00000036298
AA Change: T66S

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

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

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,838,423 (GRCm39)	F136L	possibly damaging	Het
A430033K04Rik	T	A	5: 138,644,968 (GRCm39)	N284K	possibly damaging	Het
Abcb1a	T	C	5: 8,735,346 (GRCm39)	I151T	possibly damaging	Het
Adam28	C	T	14: 68,879,532 (GRCm39)	G172D	probably damaging	Het
Adcy6	A	G	15: 98,502,041 (GRCm39)	V191A	probably benign	Het
Ankrd52	T	C	10: 128,225,359 (GRCm39)	L911P	probably damaging	Het
C5ar1	A	G	7: 15,982,076 (GRCm39)	S315P	probably damaging	Het
Cubn	A	G	2: 13,313,331 (GRCm39)		probably null	Het
Dlec1	T	C	9: 118,941,277 (GRCm39)	S276P	probably benign	Het
Dnah14	T	A	1: 181,481,203 (GRCm39)	I1564N	probably damaging	Het
Dsg2	G	A	18: 20,712,508 (GRCm39)	G171R	probably damaging	Het
Dusp13b	C	A	14: 21,793,538 (GRCm39)	G208*	probably null	Het
Ebf3	A	C	7: 136,802,853 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,171,270 (GRCm39)		probably null	Het
Fbxo27	A	G	7: 28,392,767 (GRCm39)	D16G	probably benign	Het
G6pc3	A	G	11: 102,083,934 (GRCm39)	S187G	probably benign	Het
Gucy2d	G	A	7: 98,121,513 (GRCm39)	V995I	probably null	Het
Hmcn2	C	A	2: 31,244,726 (GRCm39)	P728T	probably damaging	Het
Il1r2	T	C	1: 40,144,499 (GRCm39)	L62P	probably damaging	Het
Ints7	T	C	1: 191,314,603 (GRCm39)	S63P	probably damaging	Het
Lyset	T	A	12: 102,710,431 (GRCm39)		probably null	Het
Mcf2l	C	A	8: 12,930,089 (GRCm39)	D36E	probably benign	Het
Mfsd13b	T	G	7: 120,590,586 (GRCm39)	I109S	probably benign	Het
Mier2	G	A	10: 79,378,263 (GRCm39)	H385Y	possibly damaging	Het
Mydgf	C	A	17: 56,490,734 (GRCm39)		probably null	Het
Nanog	A	T	6: 122,690,475 (GRCm39)	L268F	possibly damaging	Het
Or12j5	T	A	7: 140,084,315 (GRCm39)	D19V	probably benign	Het
Or14a259	A	T	7: 86,013,471 (GRCm39)	C25S	probably benign	Het
Otud4	T	A	8: 80,385,896 (GRCm39)	N256K	probably damaging	Het
P2rx1	A	T	11: 72,899,779 (GRCm39)	D128V	probably benign	Het
Pappa	G	A	4: 65,254,001 (GRCm39)	V1552I	probably benign	Het
Pax8	A	T	2: 24,333,034 (GRCm39)	F103I	probably damaging	Het
Ptk2b	T	A	14: 66,412,204 (GRCm39)	S396C	probably damaging	Het
Rnf148	A	G	6: 23,654,169 (GRCm39)	Y276H	probably damaging	Het
Sec11c	A	T	18: 65,947,911 (GRCm39)	I93L	probably damaging	Het
Serpinb2	T	A	1: 107,450,910 (GRCm39)	N217K	probably benign	Het
Slc4a3	T	C	1: 75,526,506 (GRCm39)	M9T	probably benign	Het
Sord	G	A	2: 122,087,423 (GRCm39)	V176I	possibly damaging	Het
Thbs4	G	A	13: 92,890,792 (GRCm39)	Q892*	probably null	Het
Thsd7b	T	A	1: 129,849,157 (GRCm39)	D956E	probably benign	Het
Topbp1	T	A	9: 103,186,176 (GRCm39)		probably null	Het
Tst	T	C	15: 78,289,453 (GRCm39)	E194G	probably damaging	Het
Ttk	T	A	9: 83,739,380 (GRCm39)	S484T	possibly damaging	Het
U2surp	A	G	9: 95,384,607 (GRCm39)	S26P	possibly damaging	Het
Ugt2b37	C	T	5: 87,388,714 (GRCm39)	A500T	probably benign	Het
Utrn	A	T	10: 12,545,930 (GRCm39)	Y1669*	probably null	Het
Vmn2r23	A	T	6: 123,718,615 (GRCm39)	Q656L	probably damaging	Het
Wdr7	A	G	18: 64,120,231 (GRCm39)	N1424S	probably benign	Het
Xkr9	A	G	1: 13,771,603 (GRCm39)	D373G	probably benign	Het
Zfp984	T	A	4: 147,840,668 (GRCm39)	Y61F	probably benign	Het

Other mutations in Slc2a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Slc2a13	APN	15	91,381,602 (GRCm39)	missense	probably benign
IGL01295:Slc2a13	APN	15	91,234,335 (GRCm39)	critical splice acceptor site	probably null
IGL01863:Slc2a13	APN	15	91,400,695 (GRCm39)	missense	probably benign	0.00
IGL02149:Slc2a13	APN	15	91,227,924 (GRCm39)	missense	probably benign
IGL02670:Slc2a13	APN	15	91,381,712 (GRCm39)	missense	probably damaging	0.99
IGL02692:Slc2a13	APN	15	91,205,861 (GRCm39)	missense	probably benign	0.23
IGL03307:Slc2a13	APN	15	91,160,317 (GRCm39)	missense	probably damaging	0.98
R0394:Slc2a13	UTSW	15	91,400,595 (GRCm39)	missense	probably damaging	1.00
R0624:Slc2a13	UTSW	15	91,234,215 (GRCm39)	missense	possibly damaging	0.89
R0698:Slc2a13	UTSW	15	91,205,870 (GRCm39)	missense	probably benign
R0702:Slc2a13	UTSW	15	91,205,870 (GRCm39)	missense	probably benign
R1052:Slc2a13	UTSW	15	91,296,363 (GRCm39)	missense	probably damaging	0.96
R2090:Slc2a13	UTSW	15	91,400,695 (GRCm39)	missense	probably benign	0.00
R2118:Slc2a13	UTSW	15	91,400,679 (GRCm39)	missense	probably damaging	0.99
R4445:Slc2a13	UTSW	15	91,234,223 (GRCm39)	missense	possibly damaging	0.46
R4896:Slc2a13	UTSW	15	91,296,415 (GRCm39)	missense	probably benign	0.20
R6028:Slc2a13	UTSW	15	91,160,319 (GRCm39)	missense	probably damaging	1.00
R6414:Slc2a13	UTSW	15	91,228,008 (GRCm39)	missense	probably benign	0.00
R6836:Slc2a13	UTSW	15	91,205,835 (GRCm39)	missense	probably benign	0.00
R6928:Slc2a13	UTSW	15	91,160,382 (GRCm39)	missense	probably damaging	1.00
R7353:Slc2a13	UTSW	15	91,205,807 (GRCm39)	missense	probably benign
R7423:Slc2a13	UTSW	15	91,456,883 (GRCm39)	missense	probably damaging	1.00
R7458:Slc2a13	UTSW	15	91,296,390 (GRCm39)	missense	probably benign	0.04
R7641:Slc2a13	UTSW	15	91,156,359 (GRCm39)	makesense	probably null
R7993:Slc2a13	UTSW	15	91,296,356 (GRCm39)	nonsense	probably null
R8057:Slc2a13	UTSW	15	91,400,619 (GRCm39)	missense	probably damaging	0.99
R8164:Slc2a13	UTSW	15	91,160,281 (GRCm39)	missense	probably damaging	0.96
R8794:Slc2a13	UTSW	15	91,234,302 (GRCm39)	missense	probably damaging	1.00
R9061:Slc2a13	UTSW	15	91,234,333 (GRCm39)	missense	possibly damaging	0.85
R9185:Slc2a13	UTSW	15	91,227,906 (GRCm39)	missense	probably damaging	0.99
R9396:Slc2a13	UTSW	15	91,227,915 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCAGCGTCTCCTTGTTGG -3'
(R):5'- GGAGGAGTTCTTCTCTGTCTCC -3'

Sequencing Primer
(F):5'- CCAGCAGGATGGCGCTG -3'
(R):5'- TCCAAGCGGGCAAGTGAC -3'

Posted On

2021-01-18