Mutagenetix > Incidental Mutations

Incidental Mutation 'R2882:Slc5a11'

260346

Institutional Source

Beutler Lab

Gene Symbol

Slc5a11

Ensembl Gene

ENSMUSG00000030769

Gene Name

solute carrier family 5 (sodium/glucose cotransporter), member 11

Synonyms

2010013B02Rik, Kst1

MMRRC Submission

040470-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R2882 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

123214780-123273253 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

GGTGC to G at 123239372 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033035] [ENSMUST00000127655] [ENSMUST00000131461] [ENSMUST00000131933] [ENSMUST00000167299]

Predicted Effect

probably null
Transcript: ENSMUST00000033035

SMART Domains

Protein: ENSMUSP00000033035
Gene: ENSMUSG00000030769

Domain	Start	End	E-Value	Type
low complexity region	30	42	N/A	INTRINSIC
Pfam:SSF	58	487	2.2e-143	PFAM
transmembrane domain	521	543	N/A	INTRINSIC
transmembrane domain	653	672	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000127655

SMART Domains

Protein: ENSMUSP00000117956
Gene: ENSMUSG00000030769

Domain	Start	End	E-Value	Type
low complexity region	30	42	N/A	INTRINSIC
Pfam:SSF	58	152	2.4e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131209

SMART Domains

Protein: ENSMUSP00000120678
Gene: ENSMUSG00000030769

Domain	Start	End	E-Value	Type
Pfam:SSF	7	72	8.5e-18	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000131461

SMART Domains

Protein: ENSMUSP00000123027
Gene: ENSMUSG00000030769

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000131933

SMART Domains

Protein: ENSMUSP00000121459
Gene: ENSMUSG00000030769

Domain	Start	End	E-Value	Type
low complexity region	30	42	N/A	INTRINSIC
Pfam:SSF	58	402	1.2e-111	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000167299

SMART Domains

Protein: ENSMUSP00000127977
Gene: ENSMUSG00000030769

Domain	Start	End	E-Value	Type
low complexity region	30	42	N/A	INTRINSIC
Pfam:SSF	58	487	2.2e-143	PFAM
transmembrane domain	521	543	N/A	INTRINSIC
transmembrane domain	653	672	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	C	A	13: 59,742,943	Q354H	probably benign	Het
AF529169	C	T	9: 89,602,802	V181I	possibly damaging	Het
Atp9a	T	C	2: 168,706,214	Y7C	probably damaging	Het
Atxn3	C	A	12: 101,937,411	L178F	probably damaging	Het
Cep112	T	C	11: 108,519,212	S211P	possibly damaging	Het
Csl	A	G	10: 99,758,925	F93L	probably damaging	Het
Cyp4f40	A	G	17: 32,668,073	I173V	probably benign	Het
Dcaf17	A	G	2: 71,082,027	I319V	possibly damaging	Het
Dock5	T	C	14: 67,839,620	Y258C	probably damaging	Het
Dpp10	T	C	1: 123,445,203	E236G	probably damaging	Het
Dpyd	A	G	3: 119,065,030	D631G	probably damaging	Het
Ewsr1	C	A	11: 5,078,523		probably benign	Het
Fat2	C	A	11: 55,311,305	L314F	probably damaging	Het
Gsdmc	T	C	15: 63,779,795	I259V	probably benign	Het
Hydin	C	T	8: 110,566,923	L3501F	possibly damaging	Het
Kdm2a	A	G	19: 4,331,184		probably null	Het
Klra1	A	T	6: 130,377,863		probably null	Het
Kremen1	CGGG	CGGGGGG	11: 5,201,791		probably benign	Het
Mlh3	A	T	12: 85,267,566	H615Q	probably damaging	Het
Mmp12	A	G	9: 7,358,236	Y374C	probably damaging	Het
Mpp2	T	C	11: 102,064,633	E97G	probably benign	Het
Oasl2	C	T	5: 114,911,023	R175C	probably damaging	Het
Olfr348	A	T	2: 36,787,190	I222F	probably damaging	Het
Pcdhac2	A	T	18: 37,145,812	Q615L	probably damaging	Het
Ppm1h	T	A	10: 122,941,334	Y502N	probably damaging	Het
Tex15	T	A	8: 33,574,907	L1455*	probably null	Het
Tgm6	T	C	2: 130,137,439	V163A	probably benign	Het
Tlr5	C	T	1: 182,973,893	T240M	probably damaging	Het
Washc4	T	C	10: 83,579,501	I785T	possibly damaging	Het

Other mutations in Slc5a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Slc5a11	APN	7	123250174	missense	probably null	0.72
IGL01670:Slc5a11	APN	7	123269949	missense	probably benign
IGL01960:Slc5a11	APN	7	123269940	missense	probably benign	0.00
IGL02512:Slc5a11	APN	7	123265255	missense	probably damaging	0.96
IGL02637:Slc5a11	APN	7	123260505	critical splice acceptor site	probably null
IGL02680:Slc5a11	APN	7	123265631	missense	probably damaging	1.00
IGL03185:Slc5a11	APN	7	123265189	missense	possibly damaging	0.61
R0454:Slc5a11	UTSW	7	123265235	missense	possibly damaging	0.83
R0894:Slc5a11	UTSW	7	123258420	missense	possibly damaging	0.91
R1501:Slc5a11	UTSW	7	123260508	missense	probably damaging	1.00
R1879:Slc5a11	UTSW	7	123239448	missense	possibly damaging	0.91
R2185:Slc5a11	UTSW	7	123273198	missense	probably damaging	0.96
R2880:Slc5a11	UTSW	7	123239372	frame shift	probably null
R2919:Slc5a11	UTSW	7	123239372	frame shift	probably null
R3012:Slc5a11	UTSW	7	123239372	frame shift	probably null
R4307:Slc5a11	UTSW	7	123269870	missense	probably benign	0.01
R4405:Slc5a11	UTSW	7	123258477	missense	probably damaging	1.00
R4510:Slc5a11	UTSW	7	123235635	missense	probably benign	0.05
R4511:Slc5a11	UTSW	7	123235635	missense	probably benign	0.05
R4599:Slc5a11	UTSW	7	123258378	missense	probably benign	0.00
R4660:Slc5a11	UTSW	7	123265263	missense	probably damaging	1.00
R5822:Slc5a11	UTSW	7	123252431	missense	probably damaging	1.00
R6641:Slc5a11	UTSW	7	123238155	missense	probably benign	0.01
R6694:Slc5a11	UTSW	7	123267789	missense	possibly damaging	0.65
R7078:Slc5a11	UTSW	7	123258446	missense	probably damaging	1.00
R7580:Slc5a11	UTSW	7	123265198	missense	probably damaging	1.00
R8088:Slc5a11	UTSW	7	123265728	missense	probably benign	0.14
R8139:Slc5a11	UTSW	7	123269976	missense	probably benign	0.00
R8302:Slc5a11	UTSW	7	123247939	missense	probably damaging	1.00
Z1177:Slc5a11	UTSW	7	123239390	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCAGACACTTTCTCAAG -3'
(R):5'- GAAGCCTCCTGTTTGCTTAACG -3'

Sequencing Primer
(F):5'- GCAGACACTTTCTCAAGTTGTG -3'
(R):5'- GCCTCCTGTTTGCTTAACGAAAAG -3'

Posted On

2015-01-23