Mutagenetix > Incidental Mutation

Incidental Mutation 'R6836:Slc2a13'

534589

Institutional Source

Beutler Lab

Gene Symbol

Slc2a13

Ensembl Gene

ENSMUSG00000036298

Gene Name

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

Synonyms

A630029G22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91267696-91573261 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91321632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 451 (V451I)

Ref Sequence

ENSEMBL: ENSMUSP00000104906 (fasta)

Gene Model

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

AlphaFold

Q3UHK1

Predicted Effect

probably benign
Transcript: ENSMUST00000109283
AA Change: V451I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104906
Gene: ENSMUSG00000036298
AA Change: V451I

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: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,196,504	I81F	possibly damaging	Het
Adamtsl2	T	C	2: 27,081,706	M1T	probably null	Het
Aim2	C	G	1: 173,463,980	T317R	probably damaging	Het
Alox8	T	C	11: 69,186,505	Y473C	probably damaging	Het
Alox8	T	C	11: 69,189,889	R209G	possibly damaging	Het
Asb5	A	G	8: 54,585,071	M210V	probably benign	Het
Atp2c2	T	A	8: 119,734,415	L249Q	probably damaging	Het
AU018091	T	G	7: 3,164,156	D77A	probably damaging	Het
Bahcc1	A	T	11: 120,271,757	K294*	probably null	Het
Baz2b	C	T	2: 59,917,425	R1298Q	probably damaging	Het
Bivm	T	A	1: 44,143,136	N501K	possibly damaging	Het
Bpifb5	T	A	2: 154,228,065	I145N	probably benign	Het
Casq2	A	T	3: 102,086,760	N41I	probably damaging	Het
Ccdc18	T	C	5: 108,197,967	L993P	probably damaging	Het
Cfap44	A	G	16: 44,404,079	D50G	probably damaging	Het
Clca3a2	T	A	3: 144,806,383	I91F	probably damaging	Het
Crebbp	T	A	16: 4,180,022	H66L	possibly damaging	Het
Cyfip2	T	C	11: 46,272,640	T321A	probably benign	Het
Dido1	A	G	2: 180,662,307	V1268A	probably benign	Het
E030030I06Rik	A	C	10: 22,148,492	V174G	probably damaging	Het
Gm20730	G	T	6: 43,081,833		probably null	Het
Gm36176	T	C	10: 77,847,142		probably benign	Het
Gper1	T	A	5: 139,426,680	M260K	probably damaging	Het
Igfbp2	T	C	1: 72,849,658	L89P	probably damaging	Het
Katnal1	T	C	5: 148,894,164	N200S	probably damaging	Het
Kcnk13	G	T	12: 100,061,689	R341L	probably damaging	Het
Klhl20	T	A	1: 161,105,406	E277D	probably benign	Het
Lingo1	T	C	9: 56,619,772	Y517C	probably damaging	Het
Lrrk1	C	T	7: 66,342,779	E82K	probably benign	Het
Mtor	T	A	4: 148,489,498	V1275D	possibly damaging	Het
Ncan	C	T	8: 70,100,315	S1089N	possibly damaging	Het
Notch4	C	T	17: 34,586,100	T1643I	probably damaging	Het
Olfr1258	T	C	2: 89,930,339	C177R	probably damaging	Het
Olfr1357	A	G	10: 78,612,590	L17P	probably damaging	Het
Olfr1387	A	T	11: 49,460,077	T133S	possibly damaging	Het
Olfr539	A	C	7: 140,668,180	I298L	possibly damaging	Het
Pcdhgb6	T	C	18: 37,742,962	V241A	probably benign	Het
Phf11b	T	A	14: 59,328,123	T102S	possibly damaging	Het
Pkd1	T	A	17: 24,581,259	V2998E	probably damaging	Het
Ppp1r13b	T	C	12: 111,835,195	S352G	probably benign	Het
Ptprh	C	T	7: 4,551,135	V778M	probably damaging	Het
Ptprz1	C	T	6: 23,030,665	Q1008*	probably null	Het
Ralgapa1	A	T	12: 55,604,273		probably null	Het
Rbm20	G	A	19: 53,814,069	G336E	probably damaging	Het
Sdsl	T	C	5: 120,462,102	I77V	probably benign	Het
Serpina3b	G	A	12: 104,134,082	E308K	probably benign	Het
Sfrp5	G	A	19: 42,201,710	T101I	probably damaging	Het
Slc6a9	C	T	4: 117,867,886	A559V	possibly damaging	Het
Spg11	C	T	2: 122,059,535	A2109T	probably damaging	Het
Stard9	C	T	2: 120,699,843	R2194C	probably benign	Het
Tfeb	T	C	17: 47,786,198		probably null	Het
Tiam2	T	A	17: 3,414,380	I128N	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Tpr	T	G	1: 150,436,673		probably null	Het
Traf3ip1	T	C	1: 91,521,000	I456T	probably benign	Het
Ttll4	T	A	1: 74,689,413	D892E	probably damaging	Het
Ubr1	T	A	2: 120,896,675		probably null	Het
Vmn2r74	T	A	7: 85,957,422	I239F	probably benign	Het
Wdfy3	C	T	5: 101,952,999	V251M	probably damaging	Het
Xylb	T	A	9: 119,391,754	L531H	probably damaging	Het
Zfp960	T	A	17: 17,088,172	C383S	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
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'- AATGCAACCAATCTGTATCGC -3'
(R):5'- ACCTGGATCTGCTTACATCAC -3'

Sequencing Primer
(F):5'- GCAACCAATCTGTATCGCATATATTC -3'
(R):5'- ACATCACTTGTCTTAGCCAAAGCTG -3'

Posted On

2018-09-12