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

91151899-91457464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91160281 bp (GRCm39)

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: 3,767,454 (GRCm39)	V347A	probably benign	Het
Abca13	A	T	11: 9,565,799 (GRCm39)	I4808F	probably damaging	Het
Acaa2	C	A	18: 74,928,318 (GRCm39)	Y182*	probably null	Het
Ankrd44	A	T	1: 54,703,138 (GRCm39)	N644K	probably damaging	Het
Aurkaip1	T	A	4: 155,916,962 (GRCm39)	M70K	probably damaging	Het
Brinp1	A	T	4: 68,681,158 (GRCm39)	Y457*	probably null	Het
Brox	A	T	1: 183,062,491 (GRCm39)	C288S	possibly damaging	Het
Ccdc57	C	T	11: 120,788,788 (GRCm39)	R353H	probably benign	Het
Cdhr1	A	T	14: 36,801,499 (GRCm39)	S815T	probably damaging	Het
Cnih4	A	G	1: 180,989,691 (GRCm39)	I101M	probably damaging	Het
Ctsj	T	C	13: 61,150,334 (GRCm39)	T222A	probably benign	Het
Dab2	C	A	15: 6,460,449 (GRCm39)	D452E	possibly damaging	Het
Dnah3	A	G	7: 119,566,837 (GRCm39)	I2463T	probably damaging	Het
Dync1h1	A	G	12: 110,582,794 (GRCm39)	T326A	possibly damaging	Het
F10	A	G	8: 13,100,781 (GRCm39)	T232A	probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gcdh	A	G	8: 85,619,181 (GRCm39)	S128P	probably damaging	Het
Golph3l	G	A	3: 95,524,517 (GRCm39)	R256Q	probably benign	Het
Igkv2-109	A	G	6: 68,279,853 (GRCm39)	T25A	probably damaging	Het
Lcor	T	A	19: 41,573,849 (GRCm39)	V868D	probably damaging	Het
Lhx9	A	T	1: 138,760,518 (GRCm39)	F286L	probably damaging	Het
Lrrtm1	A	T	6: 77,221,199 (GRCm39)	N219Y	probably damaging	Het
Mei4	A	G	9: 81,809,642 (GRCm39)	K242E	probably damaging	Het
Morc2b	T	C	17: 33,357,014 (GRCm39)	M253V	probably damaging	Het
Myh14	A	G	7: 44,274,457 (GRCm39)	V1277A	probably benign	Het
N4bp2	T	A	5: 65,966,566 (GRCm39)	W1335R	probably damaging	Het
Naip6	T	A	13: 100,452,797 (GRCm39)	H88L	probably benign	Het
Niban1	G	A	1: 151,593,339 (GRCm39)	V675M	probably benign	Het
Nlrp1b	A	T	11: 71,119,243 (GRCm39)	H17Q	possibly damaging	Het
Or1p1b	A	T	11: 74,130,786 (GRCm39)	Y132F	probably damaging	Het
P2ry12	C	T	3: 59,125,037 (GRCm39)	V213I	possibly damaging	Het
Pcdhb21	C	A	18: 37,649,057 (GRCm39)	P729T	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf39	C	G	17: 37,254,292 (GRCm39)	R105G	probably damaging	Het
Sbk1	G	A	7: 125,891,711 (GRCm39)	V382M	possibly damaging	Het
Sbno1	T	C	5: 124,512,684 (GRCm39)	T1362A	probably benign	Het
Tardbp	A	T	4: 148,703,060 (GRCm39)	N301K	probably benign	Het
Tet2	G	T	3: 133,172,895 (GRCm39)	T1789N	possibly damaging	Het
Tln2	G	A	9: 67,226,702 (GRCm39)	A1261V	probably benign	Het
Tmem131l	A	T	3: 83,833,495 (GRCm39)	Y789*	probably null	Het
Tmprss11c	T	A	5: 86,379,712 (GRCm39)	I399F	probably damaging	Het
Tnfrsf25	C	T	4: 152,201,877 (GRCm39)	T118I	possibly damaging	Het
Trpc4	A	T	3: 54,223,226 (GRCm39)	M721L	probably benign	Het
Vav3	A	G	3: 109,248,368 (GRCm39)	K5R	probably benign	Het
Wdr24	C	A	17: 26,044,923 (GRCm39)		probably null	Het
Zc3hc1	A	T	6: 30,390,895 (GRCm39)	I36K	probably damaging	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
R8520:Slc2a13	UTSW	15	91,457,105 (GRCm39)	missense	probably damaging	1.00
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'- GGAAAAGAGAGCTCTCCCAG -3'
(R):5'- GTCAGGCTACTGTGTTTCATCC -3'

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

Posted On

2020-07-13