Mutagenetix > Incidental Mutation

Incidental Mutation 'R0624:Slc2a13'

58843

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

038813-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91267696-91573261 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91350012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 374 (V374I)

Ref Sequence

ENSEMBL: ENSMUSP00000104906 (fasta)

Gene Model

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

AlphaFold

Q3UHK1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109283
AA Change: V374I

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104906
Gene: ENSMUSG00000036298
AA Change: V374I

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

Meta Mutation Damage Score

0.0776

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.2%

Validation Efficiency

98% (88/90)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,268,457	E494K	probably damaging	Het
Abca9	T	A	11: 110,139,620	D767V	probably damaging	Het
Add1	T	A	5: 34,605,853	N128K	probably damaging	Het
Ado	A	T	10: 67,548,228	D182E	probably benign	Het
Anapc4	T	A	5: 52,845,419		probably benign	Het
Ano10	A	G	9: 122,259,595		probably benign	Het
Apba2	A	G	7: 64,714,515		probably null	Het
Apc2	A	G	10: 80,314,583	T1795A	probably benign	Het
Atp4a	A	G	7: 30,718,999	N571D	probably benign	Het
Birc6	A	G	17: 74,580,349	N891D	probably benign	Het
Car3	G	T	3: 14,866,804	M78I	probably benign	Het
Cc2d2a	A	T	5: 43,730,029	H1267L	probably benign	Het
Cdk18	A	G	1: 132,118,872	L192P	probably damaging	Het
Cdk9	A	T	2: 32,709,824	Y134N	probably damaging	Het
Ceacam5	A	T	7: 17,714,963	T85S	probably benign	Het
Cenpe	A	G	3: 135,246,586	T1403A	probably benign	Het
Chd8	C	T	14: 52,219,757	G918D	possibly damaging	Het
Csnk1e	T	A	15: 79,419,898		probably benign	Het
Dctpp1	A	T	7: 127,257,193	I119N	probably damaging	Het
Defb34	T	A	8: 19,123,768	F6Y	unknown	Het
Dvl1	C	G	4: 155,854,775	N248K	probably damaging	Het
Dync1h1	T	C	12: 110,651,747		probably benign	Het
Eml5	T	A	12: 98,865,479	R407W	probably damaging	Het
Epb41l5	T	C	1: 119,623,958	D99G	probably damaging	Het
Fat1	A	T	8: 45,051,168	N4566I	possibly damaging	Het
Gm21834	T	C	17: 57,742,020	E67G	possibly damaging	Het
Gsap	T	A	5: 21,253,951		probably null	Het
Guf1	T	C	5: 69,558,580	I108T	probably damaging	Het
Hsd3b5	T	C	3: 98,619,404	D242G	probably damaging	Het
Kcna7	A	G	7: 45,409,690	D467G	probably null	Het
Lars	A	G	18: 42,242,784		probably benign	Het
Lrrc56	A	T	7: 141,206,453	D248V	probably damaging	Het
Map3k14	T	A	11: 103,242,291	E27V	possibly damaging	Het
Med12l	G	A	3: 59,037,702	W116*	probably null	Het
Mgll	A	G	6: 88,725,817	R33G	probably damaging	Het
Mmp13	A	G	9: 7,280,221	S384G	possibly damaging	Het
Nalcn	C	T	14: 123,370,032	C675Y	probably benign	Het
Nrxn1	A	G	17: 91,088,689	L13P	unknown	Het
Ocstamp	A	G	2: 165,397,852	V138A	probably damaging	Het
Olfr1120	T	G	2: 87,357,682	Y79*	probably null	Het
Olfr1240	A	G	2: 89,440,138	V47A	possibly damaging	Het
Olfr1303	T	C	2: 111,814,711	N5S	probably damaging	Het
Olfr1505	T	G	19: 13,919,444	C141W	probably damaging	Het
Olfr372	T	A	8: 72,058,162	S161T	possibly damaging	Het
Olfr470	A	G	7: 107,845,116	S206P	possibly damaging	Het
Patj	T	C	4: 98,681,235		probably benign	Het
Pcdhb22	A	G	18: 37,518,727	I83V	probably benign	Het
Pclo	A	G	5: 14,669,656	E1269G	unknown	Het
Plagl2	T	C	2: 153,236,053	T3A	probably benign	Het
Plcb1	C	T	2: 135,294,911	P309S	possibly damaging	Het
Pld3	A	T	7: 27,539,575	L175Q	possibly damaging	Het
Prrx1	A	G	1: 163,248,405		probably benign	Het
Psap	T	G	10: 60,299,566		probably benign	Het
Ptgfr	G	A	3: 151,835,202	T223M	probably damaging	Het
Reep2	A	T	18: 34,840,771	I6F	probably benign	Het
Rraga	A	G	4: 86,576,217	E100G	probably benign	Het
Rrm2b	T	C	15: 37,931,645	D37G	probably benign	Het
Rtl1	T	C	12: 109,592,719	I895M	probably damaging	Het
Ryr1	G	A	7: 29,074,609	A2445V	probably damaging	Het
Sbf1	C	T	15: 89,302,329	D898N	possibly damaging	Het
Sh3d19	G	A	3: 86,114,906	V548I	possibly damaging	Het
Shf	C	A	2: 122,368,635		probably benign	Het
Sipa1l3	T	C	7: 29,387,251	E638G	probably damaging	Het
Slc13a3	G	T	2: 165,411,887	P449T	probably damaging	Het
Slc4a7	T	C	14: 14,794,059		probably null	Het
Slc7a2	T	A	8: 40,908,531	S414T	probably benign	Het
Slc9c1	A	G	16: 45,573,356	E554G	probably benign	Het
Smad2	T	C	18: 76,299,993	I332T	probably damaging	Het
Snrnp40	C	T	4: 130,362,658	P59S	probably damaging	Het
Sorcs2	A	T	5: 36,065,433	I154N	probably damaging	Het
Sort1	G	A	3: 108,348,630	G631S	probably damaging	Het
Sox10	T	C	15: 79,159,386	D149G	possibly damaging	Het
Spn	C	T	7: 127,136,208	V376M	possibly damaging	Het
Tacc2	A	G	7: 130,577,509	D9G	probably damaging	Het
Tapt1	T	G	5: 44,177,106	L514F	possibly damaging	Het
Tcf3	A	G	10: 80,413,334	L480P	probably damaging	Het
Tenm4	G	C	7: 96,774,020	G637A	probably damaging	Het
Tex14	T	A	11: 87,520,699	N950K	probably benign	Het
Tgfbrap1	T	G	1: 43,059,129	H497P	probably benign	Het
Tnfrsf18	A	T	4: 156,026,529	Y48F	possibly damaging	Het
Tnxb	A	C	17: 34,683,548	H1002P	probably damaging	Het
Ttn	A	G	2: 76,763,227		probably benign	Het
Ugt2b34	C	G	5: 86,893,732		probably null	Het
Vldlr	A	G	19: 27,238,263	D220G	possibly damaging	Het
Vmn1r33	A	T	6: 66,612,137	Y144*	probably null	Het
Wdr60	T	C	12: 116,248,290	D199G	probably damaging	Het
Wdr78	T	C	4: 103,072,857		probably benign	Het
Xrcc4	T	C	13: 89,992,475	E205G	possibly 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
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
R8794:Slc2a13	UTSW	15	91350099	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'- CAGTAAATGTGTCCCCACAGTGCC -3'
(R):5'- ACAGTTTCCTTGAATGACTACCCGC -3'

Sequencing Primer
(F):5'- TAGTCACTTACCGCAGAACTGG -3'
(R):5'- GCAACAACCAGTCTGTTCTTTG -3'

Posted On

2013-07-11