Mutagenetix > Incidental Mutation

Incidental Mutation 'R8164:Slc2a13'

633686

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

067590-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91267696-91573261 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91276078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 558 (Y558H)

Ref Sequence

ENSEMBL: ENSMUSP00000104906 (fasta)

Gene Model

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

AlphaFold

Q3UHK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000109283
AA Change: Y558H

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104906
Gene: ENSMUSG00000036298
AA Change: Y558H

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: 99.5%
20x: 98.3%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,717,454	V347A	probably benign	Het
Abca13	A	T	11: 9,615,799	I4808F	probably damaging	Het
Acaa2	C	A	18: 74,795,247	Y182*	probably null	Het
Ankrd44	A	T	1: 54,663,979	N644K	probably damaging	Het
Aurkaip1	T	A	4: 155,832,505	M70K	probably damaging	Het
Brinp1	A	T	4: 68,762,921	Y457*	probably null	Het
Brox	A	T	1: 183,280,927	C288S	possibly damaging	Het
Ccdc57	C	T	11: 120,897,962	R353H	probably benign	Het
Cdhr1	A	T	14: 37,079,542	S815T	probably damaging	Het
Cnih4	A	G	1: 181,162,126	I101M	probably damaging	Het
Ctsj	T	C	13: 61,002,520	T222A	probably benign	Het
Dab2	C	A	15: 6,430,968	D452E	possibly damaging	Het
Dnah3	A	G	7: 119,967,614	I2463T	probably damaging	Het
Dync1h1	A	G	12: 110,616,360	T326A	possibly damaging	Het
F10	A	G	8: 13,050,781	T232A	probably benign	Het
Fam129a	G	A	1: 151,717,588	V675M	probably benign	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Gcdh	A	G	8: 84,892,552	S128P	probably damaging	Het
Gm340	T	A	19: 41,585,410	V868D	probably damaging	Het
Golph3l	G	A	3: 95,617,206	R256Q	probably benign	Het
Igkv2-109	A	G	6: 68,302,869	T25A	probably damaging	Het
Lhx9	A	T	1: 138,832,780	F286L	probably damaging	Het
Lrrtm1	A	T	6: 77,244,216	N219Y	probably damaging	Het
Mei4	A	G	9: 81,927,589	K242E	probably damaging	Het
Morc2b	T	C	17: 33,138,040	M253V	probably damaging	Het
Myh14	A	G	7: 44,625,033	V1277A	probably benign	Het
N4bp2	T	A	5: 65,809,223	W1335R	probably damaging	Het
Naip6	T	A	13: 100,316,289	H88L	probably benign	Het
Nlrp1b	A	T	11: 71,228,417	H17Q	possibly damaging	Het
Olfr404-ps1	A	T	11: 74,239,960	Y132F	probably damaging	Het
P2ry12	C	T	3: 59,217,616	V213I	possibly damaging	Het
Pcdhb21	C	A	18: 37,516,004	P729T	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rnf39	C	G	17: 36,943,400	R105G	probably damaging	Het
Sbk1	G	A	7: 126,292,539	V382M	possibly damaging	Het
Sbno1	T	C	5: 124,374,621	T1362A	probably benign	Het
Tardbp	A	T	4: 148,618,603	N301K	probably benign	Het
Tet2	G	T	3: 133,467,134	T1789N	possibly damaging	Het
Tln2	G	A	9: 67,319,420	A1261V	probably benign	Het
Tmem131l	A	T	3: 83,926,188	Y789*	probably null	Het
Tmprss11c	T	A	5: 86,231,853	I399F	probably damaging	Het
Tnfrsf25	C	T	4: 152,117,420	T118I	possibly damaging	Het
Trpc4	A	T	3: 54,315,805	M721L	probably benign	Het
Vav3	A	G	3: 109,341,052	K5R	probably benign	Het
Wdr24	C	A	17: 25,825,949		probably null	Het
Zc3hc1	A	T	6: 30,390,896	I36K	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
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'- GGAAAAGAGAGCTCTCCCAG -3'
(R):5'- GTCAGGCTACTGTGTTTCATCC -3'

Sequencing Primer
(F):5'- GACACATTGTCCAGAACTCTTG -3'
(R):5'- TACAGGAAATGCGTGCTC -3'

Posted On

2020-07-13