Mutagenetix > Incidental Mutation

Incidental Mutation 'R4566:Slc5a9'

343313

Institutional Source

Beutler Lab

Gene Symbol

Slc5a9

Ensembl Gene

ENSMUSG00000028544

Gene Name

solute carrier family 5 (sodium/glucose cotransporter), member 9

Synonyms

SGLT4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111732571-111759993 bp(-) (GRCm39)

Type of Mutation

splice site (43 bp from exon)

DNA Base Change (assembly)

C to A at 111748941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102719] [ENSMUST00000102720] [ENSMUST00000102721] [ENSMUST00000128340]

AlphaFold

Q8VDT1

Predicted Effect

probably null
Transcript: ENSMUST00000102719

SMART Domains

Protein: ENSMUSP00000099780
Gene: ENSMUSG00000028544

Domain	Start	End	E-Value	Type
low complexity region	34	44	N/A	INTRINSIC
Pfam:SSF	63	492	2.3e-152	PFAM
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	665	684	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000102720

SMART Domains

Protein: ENSMUSP00000099781
Gene: ENSMUSG00000028544

Domain	Start	End	E-Value	Type
low complexity region	34	44	N/A	INTRINSIC
Pfam:SSF	63	492	2.3e-152	PFAM
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	665	684	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000102721

SMART Domains

Protein: ENSMUSP00000099782
Gene: ENSMUSG00000028544

Domain	Start	End	E-Value	Type
low complexity region	34	44	N/A	INTRINSIC
Pfam:SSF	63	492	2.3e-152	PFAM
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	665	684	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000128340

SMART Domains

Protein: ENSMUSP00000120546
Gene: ENSMUSG00000028544

Domain	Start	End	E-Value	Type
Pfam:SSF	23	255	9.3e-70	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149922

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,567,927 (GRCm39)	E5082G	probably damaging	Het
Apol7a	A	T	15: 77,273,951 (GRCm39)	Y170*	probably null	Het
Cfhr1	T	A	1: 139,481,386 (GRCm39)	I165F	possibly damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Espnl	C	A	1: 91,272,301 (GRCm39)	P510T	possibly damaging	Het
Fbxw4	A	G	19: 45,580,225 (GRCm39)	V258A	probably benign	Het
Foxq1	T	C	13: 31,743,471 (GRCm39)	M191T	probably benign	Het
Gabrg1	A	T	5: 70,999,484 (GRCm39)	L22I	probably benign	Het
Limk1	A	G	5: 134,715,537 (GRCm39)	L38P	probably benign	Het
Mfhas1	C	T	8: 36,058,203 (GRCm39)	R893C	probably damaging	Het
Mug2	G	A	6: 122,056,597 (GRCm39)	V1181I	probably benign	Het
Or52ac1	A	T	7: 104,245,823 (GRCm39)	C188*	probably null	Het
Pithd1	A	G	4: 135,704,548 (GRCm39)	V56A	probably damaging	Het
Plxna4	T	C	6: 32,494,338 (GRCm39)	K93E	probably benign	Het
Ppp2cb	T	C	8: 34,100,723 (GRCm39)	V48A	possibly damaging	Het
Rasl2-9	AGG	A	7: 5,128,374 (GRCm39)		probably null	Het
Rrs1	T	C	1: 9,616,452 (GRCm39)	F235S	probably damaging	Het
Rtl1	G	A	12: 109,559,293 (GRCm39)	L849F	probably damaging	Het
Trps1	A	G	15: 50,695,074 (GRCm39)	V116A	probably damaging	Het
Vmn2r51	C	T	7: 9,836,341 (GRCm39)	E147K	probably benign	Het
Yy1	T	A	12: 108,778,889 (GRCm39)	I296K	probably damaging	Het

Other mutations in Slc5a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Slc5a9	APN	4	111,755,766 (GRCm39)	missense	probably damaging	0.99
IGL00837:Slc5a9	APN	4	111,750,887 (GRCm39)	intron	probably benign
IGL01556:Slc5a9	APN	4	111,755,833 (GRCm39)	missense	probably benign	0.00
IGL01807:Slc5a9	APN	4	111,734,737 (GRCm39)	makesense	probably null
IGL01816:Slc5a9	APN	4	111,755,811 (GRCm39)	missense	probably damaging	1.00
IGL02066:Slc5a9	APN	4	111,744,719 (GRCm39)	missense	probably damaging	1.00
IGL02370:Slc5a9	APN	4	111,734,826 (GRCm39)	missense	probably benign	0.01
IGL02491:Slc5a9	APN	4	111,753,549 (GRCm39)	missense	probably damaging	0.99
IGL02971:Slc5a9	APN	4	111,747,497 (GRCm39)	missense	possibly damaging	0.58
IGL03008:Slc5a9	APN	4	111,748,138 (GRCm39)	missense	probably benign	0.14
R0365:Slc5a9	UTSW	4	111,749,033 (GRCm39)	nonsense	probably null
R0559:Slc5a9	UTSW	4	111,742,779 (GRCm39)	missense	probably benign	0.02
R0659:Slc5a9	UTSW	4	111,741,068 (GRCm39)	missense	possibly damaging	0.82
R1454:Slc5a9	UTSW	4	111,741,161 (GRCm39)	missense	probably benign	0.04
R2006:Slc5a9	UTSW	4	111,737,423 (GRCm39)	missense	probably benign
R2014:Slc5a9	UTSW	4	111,753,546 (GRCm39)	missense	possibly damaging	0.76
R2024:Slc5a9	UTSW	4	111,747,728 (GRCm39)	missense	probably damaging	1.00
R2076:Slc5a9	UTSW	4	111,742,770 (GRCm39)	missense	possibly damaging	0.76
R2152:Slc5a9	UTSW	4	111,750,420 (GRCm39)	missense	possibly damaging	0.76
R3156:Slc5a9	UTSW	4	111,747,421 (GRCm39)	missense	possibly damaging	0.80
R4568:Slc5a9	UTSW	4	111,748,941 (GRCm39)	splice site	probably null
R4579:Slc5a9	UTSW	4	111,750,384 (GRCm39)	missense	probably damaging	1.00
R4656:Slc5a9	UTSW	4	111,748,941 (GRCm39)	splice site	probably null
R4657:Slc5a9	UTSW	4	111,748,941 (GRCm39)	splice site	probably null
R4700:Slc5a9	UTSW	4	111,748,134 (GRCm39)	missense	possibly damaging	0.64
R4889:Slc5a9	UTSW	4	111,748,941 (GRCm39)	splice site	probably null
R4891:Slc5a9	UTSW	4	111,748,941 (GRCm39)	splice site	probably null
R4911:Slc5a9	UTSW	4	111,748,941 (GRCm39)	splice site	probably null
R4948:Slc5a9	UTSW	4	111,748,941 (GRCm39)	splice site	probably null
R4953:Slc5a9	UTSW	4	111,748,941 (GRCm39)	splice site	probably null
R5222:Slc5a9	UTSW	4	111,755,808 (GRCm39)	missense	possibly damaging	0.55
R5376:Slc5a9	UTSW	4	111,750,414 (GRCm39)	missense	possibly damaging	0.80
R5502:Slc5a9	UTSW	4	111,750,366 (GRCm39)	nonsense	probably null
R5851:Slc5a9	UTSW	4	111,742,797 (GRCm39)	missense	probably benign
R6030:Slc5a9	UTSW	4	111,742,725 (GRCm39)	missense	possibly damaging	0.64
R6030:Slc5a9	UTSW	4	111,742,725 (GRCm39)	missense	possibly damaging	0.64
R6125:Slc5a9	UTSW	4	111,741,002 (GRCm39)	missense	probably damaging	1.00
R6326:Slc5a9	UTSW	4	111,737,450 (GRCm39)	missense	probably benign
R6438:Slc5a9	UTSW	4	111,749,022 (GRCm39)	missense	probably benign	0.00
R7105:Slc5a9	UTSW	4	111,755,892 (GRCm39)	missense	probably benign
R7166:Slc5a9	UTSW	4	111,741,036 (GRCm39)	missense	probably benign	0.04
R7489:Slc5a9	UTSW	4	111,741,113 (GRCm39)	missense	probably damaging	1.00
R7599:Slc5a9	UTSW	4	111,734,937 (GRCm39)	missense	probably benign
R7662:Slc5a9	UTSW	4	111,734,737 (GRCm39)	makesense	probably null
R7762:Slc5a9	UTSW	4	111,747,371 (GRCm39)	missense	probably damaging	0.99
R7992:Slc5a9	UTSW	4	111,747,729 (GRCm39)	missense	probably benign	0.37
R8851:Slc5a9	UTSW	4	111,755,790 (GRCm39)	missense	probably damaging	0.97
R8918:Slc5a9	UTSW	4	111,741,147 (GRCm39)	missense	probably benign	0.00
R9387:Slc5a9	UTSW	4	111,750,864 (GRCm39)	missense	probably damaging	1.00
R9425:Slc5a9	UTSW	4	111,734,803 (GRCm39)	missense	probably damaging	0.96
R9483:Slc5a9	UTSW	4	111,747,418 (GRCm39)	missense	probably damaging	1.00
R9506:Slc5a9	UTSW	4	111,750,439 (GRCm39)	nonsense	probably null
X0012:Slc5a9	UTSW	4	111,750,511 (GRCm39)	missense	probably damaging	0.99
Z1177:Slc5a9	UTSW	4	111,749,013 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TGTACAACTCATCCTCAGCAGG -3'
(R):5'- TGGGTGCTGACTTTCTACAG -3'

Sequencing Primer
(F):5'- AGCAGGACCCCATGTCTCTC -3'
(R):5'- ACAGACTGATATCTTCTCTGGAGC -3'

Posted On

2015-09-24