Mutagenetix > Incidental Mutation

Incidental Mutation 'R0993:Slc2a9'

97844

Institutional Source

Beutler Lab

Gene Symbol

Slc2a9

Ensembl Gene

ENSMUSG00000005107

Gene Name

solute carrier family 2 (facilitated glucose transporter), member 9

Synonyms

Glut9, SLC2A9B, SLC2a9A

MMRRC Submission

039113-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0993 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

38506616-38660486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38539406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 365 (T365S)

Ref Sequence

ENSEMBL: ENSMUSP00000116354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005238] [ENSMUST00000067872] [ENSMUST00000067886] [ENSMUST00000122970] [ENSMUST00000129099] [ENSMUST00000143758] [ENSMUST00000155634] [ENSMUST00000156272]

AlphaFold

Q3T9X0

Predicted Effect

probably damaging
Transcript: ENSMUST00000005238
AA Change: T258S

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

SMART Domains

Protein: ENSMUSP00000005238
Gene: ENSMUSG00000005107
AA Change: T258S

Domain	Start	End	E-Value	Type
Pfam:MFS_1	20	208	3.5e-10	PFAM
Pfam:Sugar_tr	25	188	1.1e-35	PFAM
Pfam:Sugar_tr	191	373	5.3e-39	PFAM
Pfam:MFS_1	196	397	1.2e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000067872
AA Change: T365S

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

SMART Domains

Protein: ENSMUSP00000066872
Gene: ENSMUSG00000005107
AA Change: T365S

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	329	2.2e-16	PFAM
Pfam:Sugar_tr	25	480	2.5e-103	PFAM
Pfam:MFS_1	321	502	3.3e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000067886
AA Change: T380S

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

SMART Domains

Protein: ENSMUSP00000063352
Gene: ENSMUSG00000005107
AA Change: T380S

Domain	Start	End	E-Value	Type
Pfam:MFS_1	37	344	1.7e-16	PFAM
Pfam:Sugar_tr	40	495	9.8e-107	PFAM
Pfam:MFS_1	328	518	1.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122970

SMART Domains

Protein: ENSMUSP00000117390
Gene: ENSMUSG00000005107

Domain	Start	End	E-Value	Type
Pfam:MFS_1	28	269	7.5e-14	PFAM
Pfam:Sugar_tr	40	260	2e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000129099
AA Change: T365S

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

SMART Domains

Protein: ENSMUSP00000122723
Gene: ENSMUSG00000005107
AA Change: T365S

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	329	2.2e-16	PFAM
Pfam:Sugar_tr	25	480	2.5e-103	PFAM
Pfam:MFS_1	321	502	3.3e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000143758
AA Change: T273S

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

SMART Domains

Protein: ENSMUSP00000118430
Gene: ENSMUSG00000005107
AA Change: T273S

Domain	Start	End	E-Value	Type
Pfam:MFS_1	37	223	4.2e-10	PFAM
Pfam:Sugar_tr	40	203	1.2e-35	PFAM
Pfam:Sugar_tr	206	388	5.8e-39	PFAM
Pfam:MFS_1	209	411	2.2e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155634
AA Change: T365S

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

SMART Domains

Protein: ENSMUSP00000116354
Gene: ENSMUSG00000005107
AA Change: T365S

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	329	2.2e-16	PFAM
Pfam:Sugar_tr	25	480	2.5e-103	PFAM
Pfam:MFS_1	321	502	3.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156272
AA Change: T157S

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144374
Gene: ENSMUSG00000005107
AA Change: T157S

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	40	111	4.5e-9	PFAM
transmembrane domain	140	157	N/A	INTRINSIC

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 89.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show partial prenatal lethality, polydipsia, hyperuricemia, hyperuricosuria and polyuria, and develop urate nephropathy, characterized by obstructive lithiasis, tubulointerstitial inflammation, cortical fibrosis, renal insufficiency and reduced male weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Eml5	T	C	12: 98,827,442 (GRCm39)	E596G	probably benign	Het
Eri3	C	A	4: 117,421,860 (GRCm39)	T46K	possibly damaging	Het
Etv1	C	T	12: 38,877,863 (GRCm39)	P68S	probably damaging	Het
Fbxl8	C	A	8: 105,993,717 (GRCm39)	D24E	probably damaging	Het
Gm19965	A	T	1: 116,749,555 (GRCm39)	N412I	probably benign	Het
Lmbr1	T	A	5: 29,492,391 (GRCm39)	H66L	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or8j3b	T	G	2: 86,205,222 (GRCm39)	Y178S	probably damaging	Het
Polr1has	TCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCAC	17: 37,275,939 (GRCm39)		probably benign	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Samd8	T	A	14: 21,825,563 (GRCm39)	V173D	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slc32a1	T	C	2: 158,453,340 (GRCm39)	M60T	possibly damaging	Het
Slx4	T	C	16: 3,803,689 (GRCm39)	S1042G	probably benign	Het
Stard9	T	C	2: 120,535,650 (GRCm39)	L193P	probably damaging	Het
Tln1	T	C	4: 43,549,825 (GRCm39)	K529E	probably benign	Het
Vps13d	G	A	4: 144,844,262 (GRCm39)	R1342*	probably null	Het

Other mutations in Slc2a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02232:Slc2a9	APN	5	38,594,013 (GRCm39)	missense	probably benign	0.19
IGL02505:Slc2a9	APN	5	38,594,002 (GRCm39)	missense	possibly damaging	0.69
IGL03096:Slc2a9	APN	5	38,508,572 (GRCm39)	missense	probably damaging	1.00
transporter9	UTSW	5	38,539,387 (GRCm39)	missense	probably damaging	1.00
R0121:Slc2a9	UTSW	5	38,556,086 (GRCm39)	missense	probably benign	0.00
R0395:Slc2a9	UTSW	5	38,610,512 (GRCm39)	missense	probably damaging	1.00
R0599:Slc2a9	UTSW	5	38,637,487 (GRCm39)	start gained	probably benign
R0610:Slc2a9	UTSW	5	38,537,285 (GRCm39)	missense	probably damaging	1.00
R1166:Slc2a9	UTSW	5	38,539,384 (GRCm39)	critical splice donor site	probably null
R1710:Slc2a9	UTSW	5	38,539,387 (GRCm39)	missense	probably damaging	1.00
R2256:Slc2a9	UTSW	5	38,610,542 (GRCm39)	missense	probably damaging	0.96
R2257:Slc2a9	UTSW	5	38,610,542 (GRCm39)	missense	probably damaging	0.96
R4066:Slc2a9	UTSW	5	38,640,692 (GRCm39)	missense	probably benign	0.03
R4193:Slc2a9	UTSW	5	38,556,049 (GRCm39)	missense	probably damaging	1.00
R4502:Slc2a9	UTSW	5	38,556,154 (GRCm39)	missense	probably benign	0.04
R4734:Slc2a9	UTSW	5	38,539,442 (GRCm39)	missense	probably damaging	1.00
R4917:Slc2a9	UTSW	5	38,574,603 (GRCm39)	missense	probably benign	0.01
R5218:Slc2a9	UTSW	5	38,610,524 (GRCm39)	missense	probably damaging	1.00
R5885:Slc2a9	UTSW	5	38,598,017 (GRCm39)	missense	probably damaging	1.00
R6313:Slc2a9	UTSW	5	38,610,464 (GRCm39)	missense	probably benign	0.03
R6983:Slc2a9	UTSW	5	38,549,064 (GRCm39)	missense	probably damaging	1.00
R7173:Slc2a9	UTSW	5	38,610,214 (GRCm39)	splice site	probably null
R7286:Slc2a9	UTSW	5	38,610,538 (GRCm39)	missense	probably damaging	0.99
R7405:Slc2a9	UTSW	5	38,549,167 (GRCm39)	missense	probably damaging	1.00
R7573:Slc2a9	UTSW	5	38,574,569 (GRCm39)	missense	probably damaging	1.00
R7594:Slc2a9	UTSW	5	38,508,634 (GRCm39)	missense	probably benign	0.00
R8212:Slc2a9	UTSW	5	38,637,402 (GRCm39)	missense	probably benign	0.00
R8508:Slc2a9	UTSW	5	38,539,421 (GRCm39)	missense	probably damaging	1.00
R9167:Slc2a9	UTSW	5	38,549,092 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCAGCAGTTCCTCACAGCATCC -3'
(R):5'- TACCCCTTGTGTCAAAGCAGCC -3'

Sequencing Primer
(F):5'- tttaacataaccccccactcc -3'
(R):5'- CAGGACTGGGGTCACCTTTG -3'

Posted On

2014-01-05