Mutagenetix > Incidental Mutation

Incidental Mutation 'R8794:Slc2a13'

671147

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

068723-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8794 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91267696-91573261 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 91350099 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 345 (G345C)

Ref Sequence

ENSEMBL: ENSMUSP00000104906 (fasta)

Gene Model

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

AlphaFold

Q3UHK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000109283
AA Change: G345C

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

SMART Domains

Protein: ENSMUSP00000104906
Gene: ENSMUSG00000036298
AA Change: G345C

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: 99.9%
20x: 99.6%

Validation Efficiency

100% (86/86)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,008,107	V498D	unknown	Het
Actn1	C	T	12: 80,198,980		probably benign	Het
Actrt2	T	C	4: 154,666,719	E320G	probably damaging	Het
Adamts7	C	T	9: 90,194,186	Q1265*	probably null	Het
Adra1a	A	G	14: 66,637,615	N13S	probably benign	Het
Alpk3	G	T	7: 81,057,655	R9L	unknown	Het
Ankrd42	A	G	7: 92,614,466	F225L	probably benign	Het
C3	T	C	17: 57,221,011	E736G	probably benign	Het
Ccng1	A	G	11: 40,753,999	S24P	probably benign	Het
Cdc42bpa	A	T	1: 180,067,251	N332I	probably damaging	Het
Cep131	G	A	11: 120,081,248	P90S	probably benign	Het
Chd8	A	G	14: 52,204,447	S2154P	probably damaging	Het
Cilp	A	G	9: 65,279,253	S877G	probably benign	Het
Clic6	T	A	16: 92,528,099	S382T	possibly damaging	Het
Coq8a	G	T	1: 180,179,208	P85Q	probably benign	Het
Creb3l4	A	G	3: 90,237,918	I309T	probably benign	Het
Cux2	T	C	5: 121,869,243	E785G	probably benign	Het
Cyfip2	A	G	11: 46,253,973	F685L	possibly damaging	Het
Epha6	T	C	16: 60,205,672	D469G	probably benign	Het
Erc1	A	T	6: 119,630,655	V962E	probably damaging	Het
Esrrb	A	T	12: 86,470,264	S57C	probably damaging	Het
Fam169a	A	G	13: 97,114,120	T320A	possibly damaging	Het
Farsb	C	T	1: 78,425,041		probably benign	Het
Frem3	T	C	8: 80,612,278	V400A	probably damaging	Het
Frem3	A	T	8: 80,616,222	M1715L	probably benign	Het
Frmpd1	A	G	4: 45,279,632	T786A	probably benign	Het
Gapvd1	A	T	2: 34,704,318	S886T	possibly damaging	Het
Gba2	A	G	4: 43,568,077	S737P	probably damaging	Het
Gm4869	A	G	5: 140,476,030	E529G	probably damaging	Het
Gm525	A	G	11: 89,088,653	N85S	probably damaging	Het
Gnpda1	T	A	18: 38,332,038	D175V	probably benign	Het
Heatr5b	T	C	17: 78,815,586	I655V	probably benign	Het
Hmcn1	G	A	1: 150,715,718	T1910I	probably benign	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Ier2	A	T	8: 84,662,467	D95E	probably damaging	Het
Ifi208	A	G	1: 173,695,804	R547G	possibly damaging	Het
Itih3	T	A	14: 30,912,897	S639C	possibly damaging	Het
March7	G	A	2: 60,243,671		probably null	Het
Mep1b	A	C	18: 21,091,268	T373P	probably damaging	Het
Mlh3	G	A	12: 85,235,723	P1379S	probably damaging	Het
Nav3	T	A	10: 109,769,171	K1014*	probably null	Het
Nme1	A	T	11: 93,960,832	F78I	probably benign	Het
Nos3	T	A	5: 24,371,747	V458D	probably damaging	Het
Noxa1	A	G	2: 25,094,840	F29L	probably benign	Het
Nrcam	G	A	12: 44,578,175	G1055D	probably benign	Het
Nutf2	A	T	8: 105,875,539		probably benign	Het
Olfr1218	T	C	2: 89,055,133	M98V	probably benign	Het
Olfr1272	A	T	2: 90,281,806	Y256*	probably null	Het
Olfr506	A	T	7: 108,612,373	D22V	probably benign	Het
Olfr869	A	T	9: 20,137,334	M73L	possibly damaging	Het
Oog3	A	G	4: 144,157,986	I460T	probably benign	Het
Pde2a	A	T	7: 101,505,929	Y559F	possibly damaging	Het
Pde6d	G	A	1: 86,547,487	Q61*	probably null	Het
Pdpr	A	G	8: 111,125,608	T536A	possibly damaging	Het
Pias4	T	A	10: 81,164,012	K69M	probably damaging	Het
Pigo	A	T	4: 43,023,787	D188E	possibly damaging	Het
Pik3r2	A	G	8: 70,771,363	V270A	probably benign	Het
Plod2	T	A	9: 92,600,748	W456R	probably damaging	Het
Pmpcb	T	C	5: 21,756,834	V450A	probably benign	Het
Poln	G	A	5: 34,129,527	T99I	possibly damaging	Het
Prg2	A	G	2: 84,982,060	D38G	possibly damaging	Het
Psmd7	A	C	8: 107,584,199	Y138D	probably damaging	Het
Ptprk	T	A	10: 28,263,508	Y76*	probably null	Het
Ranbp2	T	A	10: 58,492,592	V2810E	probably damaging	Het
Rgma	A	T	7: 73,417,900	H411L	probably damaging	Het
Sapcd1	T	C	17: 35,027,838	T25A	probably damaging	Het
Serpinb6e	T	C	13: 33,840,994	I105V	possibly damaging	Het
Serpinb9f	A	T	13: 33,329,413	T158S	probably benign	Het
Sirpb1b	T	A	3: 15,548,783	T80S	probably benign	Het
Skint6	A	T	4: 113,192,672	S265R	possibly damaging	Het
Slc23a2	A	T	2: 132,060,709	F524L	probably benign	Het
Sp110	A	G	1: 85,583,510		probably null	Het
Srcin1	A	G	11: 97,548,977	V109A	probably benign	Het
Tfcp2l1	A	G	1: 118,632,388	N70S	probably damaging	Het
Tmem30c	T	A	16: 57,270,190	H218L	probably benign	Het
Tmprss11d	G	A	5: 86,338,821	T70I	probably damaging	Het
Tnpo2	A	T	8: 85,038,485	Q32L	probably benign	Het
Trav16n	A	C	14: 53,351,410	T48P	probably damaging	Het
Ufc1	A	G	1: 171,289,522	Y110H	probably damaging	Het
Wars2	A	G	3: 99,216,572	K250E	probably damaging	Het
Wdfy4	G	T	14: 33,147,092	N326K	probably benign	Het
Xirp2	A	T	2: 67,511,213	E1266V	probably damaging	Het
Zfp423	A	C	8: 87,781,229	L829R	probably damaging	Het
Zfp735	A	G	11: 73,712,203	K658E	possibly damaging	Het
Zscan12	T	A	13: 21,363,677	C10S	possibly damaging	Het
Zswim3	T	A	2: 164,820,767	M389K	probably damaging	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
IGL02670:Slc2a13	APN	15	91497509	missense	probably damaging	0.99
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
R7993:Slc2a13	UTSW	15	91412153	nonsense	probably null
R8057:Slc2a13	UTSW	15	91516416	missense	probably damaging	0.99
R8164:Slc2a13	UTSW	15	91276078	missense	probably damaging	0.96
R8520:Slc2a13	UTSW	15	91572902	missense	probably damaging	1.00
R9061:Slc2a13	UTSW	15	91350130	missense	possibly damaging	0.85
R9185:Slc2a13	UTSW	15	91343703	missense	probably damaging	0.99
R9396:Slc2a13	UTSW	15	91343712	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAGAATCGCCATCACTATTAGAAGG -3'
(R):5'- ACTGCCTAAGAATGGTTCCTCC -3'

Sequencing Primer
(F):5'- GTAATTTAAAGCAGAATTCCACATCC -3'
(R):5'- CCGTGTGATCCTATAAAGGGCTTAC -3'

Posted On

2021-04-30