Mutagenetix > Incidental Mutation

Incidental Mutation 'R7286:Slc2a9'

565991

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

045394-MU

Accession Numbers

Essential gene?

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

Stock #

R7286 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38506616-38660486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38610538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 87 (L87Q)

Ref Sequence

ENSEMBL: ENSMUSP00000063352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005238] [ENSMUST00000067872] [ENSMUST00000067886] [ENSMUST00000122970] [ENSMUST00000129099] [ENSMUST00000143758] [ENSMUST00000147664] [ENSMUST00000155634] [ENSMUST00000156272]

AlphaFold

Q3T9X0

Predicted Effect

unknown
Transcript: ENSMUST00000005238
AA Change: L72Q

SMART Domains

Protein: ENSMUSP00000005238
Gene: ENSMUSG00000005107
AA Change: L72Q

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: L72Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066872
Gene: ENSMUSG00000005107
AA Change: L72Q

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: L87Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063352
Gene: ENSMUSG00000005107
AA Change: L87Q

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 damaging
Transcript: ENSMUST00000122970
AA Change: L87Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117390
Gene: ENSMUSG00000005107
AA Change: L87Q

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: L72Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122723
Gene: ENSMUSG00000005107
AA Change: L72Q

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

unknown
Transcript: ENSMUST00000143758
AA Change: L87Q

SMART Domains

Protein: ENSMUSP00000118430
Gene: ENSMUSG00000005107
AA Change: L87Q

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

unknown
Transcript: ENSMUST00000147664
AA Change: L72Q

SMART Domains

Protein: ENSMUSP00000119586
Gene: ENSMUSG00000005107
AA Change: L72Q

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	25	143	9.8e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155634
AA Change: L72Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116354
Gene: ENSMUSG00000005107
AA Change: L72Q

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: ENSMUST00000156272
AA Change: L87Q

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

SMART Domains

Protein: ENSMUSP00000144374
Gene: ENSMUSG00000005107
AA Change: L87Q

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,334,317 (GRCm39)	M187L	possibly damaging	Het
9930012K11Rik	T	C	14: 70,394,686 (GRCm39)	E156G	possibly damaging	Het
Acad9	C	T	3: 36,130,139 (GRCm39)	A194V	probably damaging	Het
Agps	T	A	2: 75,683,128 (GRCm39)	V151E	probably benign	Het
Ak9	A	T	10: 41,283,367 (GRCm39)	I1273L		Het
Akr1c19	T	A	13: 4,296,818 (GRCm39)	L288Q	probably damaging	Het
Carmil1	T	G	13: 24,197,377 (GRCm39)	D1353A	probably damaging	Het
Ccz1	T	A	5: 143,949,897 (GRCm39)	I43F	probably damaging	Het
Cep70	G	A	9: 99,157,638 (GRCm39)	C179Y	probably damaging	Het
Comt	A	T	16: 18,229,440 (GRCm39)	L196H	probably damaging	Het
Cspg5	A	T	9: 110,076,023 (GRCm39)	D253V	probably damaging	Het
Dars2	A	G	1: 160,874,378 (GRCm39)	V437A	possibly damaging	Het
Dcaf5	A	G	12: 80,395,164 (GRCm39)	I335T	probably damaging	Het
Ddn	T	C	15: 98,703,906 (GRCm39)	K462R	possibly damaging	Het
Dscaml1	T	C	9: 45,654,044 (GRCm39)		probably null	Het
Eef1ece2	T	C	16: 20,451,341 (GRCm39)	S325P	probably benign	Het
Ethe1	A	G	7: 24,307,377 (GRCm39)	Y197C	probably damaging	Het
Evc	A	T	5: 37,479,527 (GRCm39)	L269*	probably null	Het
Fam161a	T	C	11: 22,970,001 (GRCm39)	S60P	possibly damaging	Het
Fam20b	A	G	1: 156,509,012 (GRCm39)	V400A	probably benign	Het
Fam53b	T	A	7: 132,361,390 (GRCm39)	S213C	possibly damaging	Het
Flot2	A	G	11: 77,945,612 (GRCm39)	I45V	probably benign	Het
Gemin4	A	C	11: 76,103,579 (GRCm39)	L394R	probably damaging	Het
Glis2	T	G	16: 4,429,182 (GRCm39)	S128R	possibly damaging	Het
Gm3696	A	G	14: 18,435,009 (GRCm39)	Y92H	probably damaging	Het
Gpbp1l1	T	C	4: 116,447,442 (GRCm39)	V374A	probably benign	Het
Grm1	T	C	10: 10,565,440 (GRCm39)	N956S	probably benign	Het
Hbb-bh1	T	C	7: 103,492,238 (GRCm39)	E27G	probably damaging	Het
Hmcn1	A	T	1: 150,458,088 (GRCm39)	C5233S	probably damaging	Het
Hmgcr	C	T	13: 96,803,105 (GRCm39)	C30Y	probably damaging	Het
Hoxb6	A	G	11: 96,183,651 (GRCm39)		probably benign	Het
Igf2	T	C	7: 142,209,555 (GRCm39)	Q35R	possibly damaging	Het
Ighv1-4	C	T	12: 114,450,941 (GRCm39)	V56I	probably benign	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lmtk2	C	T	5: 144,111,178 (GRCm39)	Q633*	probably null	Het
Mesd	T	C	7: 83,544,957 (GRCm39)	Y136H	probably damaging	Het
Mga	T	A	2: 119,795,269 (GRCm39)	S2984R	possibly damaging	Het
Mkrn3	T	C	7: 62,068,675 (GRCm39)	N372S	probably benign	Het
Mtpap	A	G	18: 4,387,068 (GRCm39)	I373V	probably benign	Het
Mycbp2	G	A	14: 103,358,027 (GRCm39)	T4589M	probably damaging	Het
Myh2	A	G	11: 67,079,195 (GRCm39)	Q921R	probably benign	Het
Myom1	A	G	17: 71,352,544 (GRCm39)	D324G	possibly damaging	Het
Nat10	T	C	2: 103,584,514 (GRCm39)	K88E	probably benign	Het
Ncapd3	A	G	9: 26,981,254 (GRCm39)	R915G	probably damaging	Het
Nek4	T	C	14: 30,679,249 (GRCm39)	Y190H	probably damaging	Het
Nfasc	A	C	1: 132,529,790 (GRCm39)	Y797D	probably damaging	Het
Ngp	A	G	9: 110,249,978 (GRCm39)	D92G	probably benign	Het
Nos2	A	C	11: 78,820,680 (GRCm39)	H95P	probably damaging	Het
Nr3c1	ACGTC	ACGTCGTC	18: 39,619,513 (GRCm39)		probably benign	Het
Or10ag59	C	T	2: 87,405,863 (GRCm39)	T145I	probably benign	Het
Or5bw2	C	A	7: 6,573,715 (GRCm39)	H242N	probably damaging	Het
Or5p73	T	C	7: 108,064,642 (GRCm39)	I37T	possibly damaging	Het
Or5t18	A	T	2: 86,636,967 (GRCm39)	H125Q	possibly damaging	Het
Otogl	T	A	10: 107,606,471 (GRCm39)	D2154V	probably benign	Het
Pdss1	T	A	2: 22,825,653 (GRCm39)		probably null	Het
Pex5	A	T	6: 124,375,022 (GRCm39)	L609*	probably null	Het
Pglyrp4	C	A	3: 90,640,281 (GRCm39)	A177D	probably damaging	Het
Phactr4	A	G	4: 132,104,489 (GRCm39)		probably null	Het
Phf8-ps	T	C	17: 33,284,501 (GRCm39)	D767G	probably benign	Het
Pik3cd	G	C	4: 149,744,171 (GRCm39)	N193K	probably benign	Het
Prr36	TACCTCTTC	T	8: 4,265,163 (GRCm39)		probably benign	Het
Prss38	A	T	11: 59,266,384 (GRCm39)	W25R	probably benign	Het
Prss8	T	A	7: 127,526,056 (GRCm39)	Q189L	probably damaging	Het
Psd	T	A	19: 46,303,240 (GRCm39)	D713V	probably damaging	Het
Rad51ap2	C	T	12: 11,507,692 (GRCm39)	T538I	probably benign	Het
Rarres1	T	C	3: 67,422,517 (GRCm39)	T78A	probably benign	Het
Rbl2	G	T	8: 91,828,922 (GRCm39)	G651*	probably null	Het
Rev3l	A	T	10: 39,699,601 (GRCm39)	Q1366L	probably damaging	Het
Rundc1	T	C	11: 101,320,413 (GRCm39)	S215P	probably benign	Het
Sanbr	A	T	11: 23,572,479 (GRCm39)	C130S	probably benign	Het
Scarf2	G	A	16: 17,620,837 (GRCm39)	W168*	probably null	Het
Sh2d7	A	G	9: 54,448,186 (GRCm39)	D69G	possibly damaging	Het
Slc26a4	A	T	12: 31,579,527 (GRCm39)	Y578*	probably null	Het
Slc39a10	A	T	1: 46,849,230 (GRCm39)	H795Q	probably damaging	Het
Spata13	C	T	14: 60,993,871 (GRCm39)	R1108W	probably damaging	Het
Sqle	T	C	15: 59,187,901 (GRCm39)	S70P	probably benign	Het
Syncrip	A	T	9: 88,346,716 (GRCm39)	F263I	probably damaging	Het
Synj2	T	C	17: 6,088,220 (GRCm39)	S1424P	possibly damaging	Het
Tax1bp3	A	T	11: 73,071,941 (GRCm39)	T89S	possibly damaging	Het
Tcaim	G	A	9: 122,648,092 (GRCm39)		probably null	Het
Tcp10c	T	C	17: 13,582,438 (GRCm39)	I240T	possibly damaging	Het
Ttll8	G	T	15: 88,801,442 (GRCm39)	N415K	probably benign	Het
Tut7	T	C	13: 59,969,463 (GRCm39)	E144G	probably benign	Het
Ugcg	T	C	4: 59,217,111 (GRCm39)	S212P	possibly damaging	Het
Vmn2r32	T	C	7: 7,482,807 (GRCm39)	K56E	probably benign	Het
Vmn2r55	T	C	7: 12,386,000 (GRCm39)	E660G	probably damaging	Het
Vmn2r7	T	C	3: 64,598,301 (GRCm39)	N752S	probably benign	Het
Vps54	T	A	11: 21,225,005 (GRCm39)	M167K	probably benign	Het
Vwa2	A	C	19: 56,897,791 (GRCm39)	M699L	probably benign	Het
Wdr59	A	G	8: 112,192,494 (GRCm39)	V689A		Het
Whamm	T	G	7: 81,235,995 (GRCm39)	N399K	probably damaging	Het
Zfp760	A	G	17: 21,941,760 (GRCm39)	K312E	probably benign	Het
Zkscan3	C	A	13: 21,578,983 (GRCm39)	V171L	probably benign	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
R0993:Slc2a9	UTSW	5	38,539,406 (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
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'- TCATGCAGTGAAGTCTTTCCAG -3'
(R):5'- GGTGTCAAACATGCCAAGAGTG -3'

Sequencing Primer
(F):5'- CCAGTTAAACTGTATGAGCTCCTG -3'
(R):5'- ATGCCAAGAGTGCCCTGTACAG -3'

Posted On

2019-06-26