Mutagenetix > Incidental Mutation

Incidental Mutation 'R8088:Slc5a11'

629790

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

067521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R8088 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122814003-122872476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122864951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 419 (I419T)

Ref Sequence

ENSEMBL: ENSMUSP00000033035 (fasta)

Gene Model

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

AlphaFold

Q8K0E3

Predicted Effect

probably benign
Transcript: ENSMUST00000033035
AA Change: I419T

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000033035
Gene: ENSMUSG00000030769
AA Change: I419T

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 benign
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 benign
Transcript: ENSMUST00000167299
AA Change: I419T

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127977
Gene: ENSMUSG00000030769
AA Change: I419T

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

Meta Mutation Damage Score

0.2441

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.1%
20x: 96.8%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2c1	A	T	9: 105,329,768 (GRCm39)		probably null	Het
Ccdc134	T	A	15: 82,015,990 (GRCm39)		probably benign	Het
Ccdc162	G	T	10: 41,499,410 (GRCm39)	H1066Q	possibly damaging	Het
Ccna1	A	G	3: 54,958,492 (GRCm39)	S64P	probably benign	Het
Cplane1	A	G	15: 8,215,802 (GRCm39)	M453V	probably benign	Het
Defb12	T	C	8: 19,162,837 (GRCm39)		probably null	Het
Dhx9	C	A	1: 153,338,443 (GRCm39)	V738L	probably benign	Het
Dnah10	A	G	5: 124,831,330 (GRCm39)	N843S	probably benign	Het
Dspp	A	G	5: 104,325,122 (GRCm39)	D495G	unknown	Het
Dus2	A	G	8: 106,757,073 (GRCm39)	M88V	probably benign	Het
Dusp13b	A	G	14: 21,791,305 (GRCm39)	V49A	probably benign	Het
Efcab3	A	T	11: 104,889,072 (GRCm39)	I4163L	probably benign	Het
Ehbp1	G	A	11: 22,039,572 (GRCm39)	H843Y	probably null	Het
Entpd3	A	C	9: 120,383,239 (GRCm39)	R91S	probably benign	Het
Fam83c	C	A	2: 155,673,559 (GRCm39)	V210F	probably damaging	Het
Flot1	G	A	17: 36,140,870 (GRCm39)	A287T	probably damaging	Het
Gm19410	A	G	8: 36,273,995 (GRCm39)	K1412E	probably benign	Het
Gsn	G	A	2: 35,182,659 (GRCm39)	V241M	possibly damaging	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Heatr5a	T	C	12: 51,994,779 (GRCm39)	D451G	possibly damaging	Het
Hmcn2	G	A	2: 31,316,915 (GRCm39)	W3831*	probably null	Het
Il3	A	G	11: 54,156,375 (GRCm39)	V119A	probably benign	Het
Jam3	T	C	9: 27,010,156 (GRCm39)	K276R	probably benign	Het
Kcnt1	G	A	2: 25,784,326 (GRCm39)	G277D	possibly damaging	Het
Kif28	T	A	1: 179,527,919 (GRCm39)	D744V	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Loxhd1	T	C	18: 77,429,709 (GRCm39)	I535T	possibly damaging	Het
Lzts1	A	C	8: 69,588,474 (GRCm39)	L494R	probably benign	Het
Mettl4	A	G	17: 95,042,795 (GRCm39)	V347A	probably damaging	Het
Mff	A	G	1: 82,729,370 (GRCm39)	E270G	probably damaging	Het
Mroh2b	A	T	15: 4,929,985 (GRCm39)	I24F	possibly damaging	Het
Muc16	A	T	9: 18,430,596 (GRCm39)	Y8102*	probably null	Het
Myh14	A	T	7: 44,314,920 (GRCm39)	M1K	probably null	Het
Myo18b	T	A	5: 113,027,376 (GRCm39)		probably benign	Het
Neurl1a	C	A	19: 47,245,873 (GRCm39)	P502T	probably damaging	Het
Nrp1	G	A	8: 129,194,997 (GRCm39)	W484*	probably null	Het
Or2y3	T	A	17: 38,393,452 (GRCm39)	H139L	possibly damaging	Het
Or4f47	T	A	2: 111,972,602 (GRCm39)	I104N	probably benign	Het
Pcdhac1	T	C	18: 37,224,807 (GRCm39)	V540A	possibly damaging	Het
Pcdhga9	A	G	18: 37,870,007 (GRCm39)		probably benign	Het
Pm20d1	A	C	1: 131,729,501 (GRCm39)	N176T	probably benign	Het
Pnldc1	T	C	17: 13,116,189 (GRCm39)	D271G	probably damaging	Het
Pold3	A	G	7: 99,761,508 (GRCm39)	V63A	probably damaging	Het
Rbm18	A	C	2: 36,017,196 (GRCm39)	S61A	probably benign	Het
Rdh14	T	C	12: 10,444,551 (GRCm39)	L134P	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rtel1	A	G	2: 180,964,138 (GRCm39)	T46A	probably damaging	Het
Rtn3	T	C	19: 7,412,363 (GRCm39)	I823V	probably damaging	Het
S1pr1	A	G	3: 115,505,683 (GRCm39)	S304P	probably damaging	Het
Scfd2	A	G	5: 74,692,024 (GRCm39)	V86A	probably benign	Het
Scgb1a1	C	T	19: 9,062,599 (GRCm39)	V66M	probably damaging	Het
Sec31a	A	T	5: 100,526,721 (GRCm39)	M46K		Het
Sgsm1	A	G	5: 113,403,134 (GRCm39)	M971T	probably damaging	Het
Slco6d1	A	T	1: 98,394,431 (GRCm39)	T372S	possibly damaging	Het
Slx9	T	C	10: 77,350,229 (GRCm39)	N53S	probably benign	Het
Spata31	T	A	13: 65,068,679 (GRCm39)	Y276N	probably benign	Het
Sprr2k	C	T	3: 92,340,796 (GRCm39)	R49W	unknown	Het
Sspo	G	A	6: 48,434,547 (GRCm39)	C1013Y	probably damaging	Het
Ssr2	A	G	3: 88,487,190 (GRCm39)	R2G	possibly damaging	Het
St18	C	A	1: 6,898,229 (GRCm39)	T677K	probably benign	Het
Thap11	A	T	8: 106,582,527 (GRCm39)	I179F	probably damaging	Het
Trf	C	A	9: 103,089,130 (GRCm39)	G586C	probably damaging	Het
Umodl1	A	G	17: 31,192,770 (GRCm39)	N299S	probably benign	Het
Xrcc5	C	A	1: 72,351,595 (GRCm39)	A55E	probably damaging	Het

Other mutations in Slc5a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Slc5a11	APN	7	122,849,397 (GRCm39)	missense	probably null	0.72
IGL01670:Slc5a11	APN	7	122,869,172 (GRCm39)	missense	probably benign
IGL01960:Slc5a11	APN	7	122,869,163 (GRCm39)	missense	probably benign	0.00
IGL02512:Slc5a11	APN	7	122,864,478 (GRCm39)	missense	probably damaging	0.96
IGL02637:Slc5a11	APN	7	122,859,728 (GRCm39)	critical splice acceptor site	probably null
IGL02680:Slc5a11	APN	7	122,864,854 (GRCm39)	missense	probably damaging	1.00
IGL03185:Slc5a11	APN	7	122,864,412 (GRCm39)	missense	possibly damaging	0.61
R0454:Slc5a11	UTSW	7	122,864,458 (GRCm39)	missense	possibly damaging	0.83
R0894:Slc5a11	UTSW	7	122,857,643 (GRCm39)	missense	possibly damaging	0.91
R1501:Slc5a11	UTSW	7	122,859,731 (GRCm39)	missense	probably damaging	1.00
R1879:Slc5a11	UTSW	7	122,838,671 (GRCm39)	missense	possibly damaging	0.91
R2185:Slc5a11	UTSW	7	122,872,421 (GRCm39)	missense	probably damaging	0.96
R2880:Slc5a11	UTSW	7	122,838,595 (GRCm39)	frame shift	probably null
R2882:Slc5a11	UTSW	7	122,838,595 (GRCm39)	frame shift	probably null
R2919:Slc5a11	UTSW	7	122,838,595 (GRCm39)	frame shift	probably null
R3012:Slc5a11	UTSW	7	122,838,595 (GRCm39)	frame shift	probably null
R4307:Slc5a11	UTSW	7	122,869,093 (GRCm39)	missense	probably benign	0.01
R4405:Slc5a11	UTSW	7	122,857,700 (GRCm39)	missense	probably damaging	1.00
R4510:Slc5a11	UTSW	7	122,834,858 (GRCm39)	missense	probably benign	0.05
R4511:Slc5a11	UTSW	7	122,834,858 (GRCm39)	missense	probably benign	0.05
R4599:Slc5a11	UTSW	7	122,857,601 (GRCm39)	missense	probably benign	0.00
R4660:Slc5a11	UTSW	7	122,864,486 (GRCm39)	missense	probably damaging	1.00
R5822:Slc5a11	UTSW	7	122,851,654 (GRCm39)	missense	probably damaging	1.00
R6641:Slc5a11	UTSW	7	122,837,378 (GRCm39)	missense	probably benign	0.01
R6694:Slc5a11	UTSW	7	122,867,012 (GRCm39)	missense	possibly damaging	0.65
R7078:Slc5a11	UTSW	7	122,857,669 (GRCm39)	missense	probably damaging	1.00
R7580:Slc5a11	UTSW	7	122,864,421 (GRCm39)	missense	probably damaging	1.00
R8139:Slc5a11	UTSW	7	122,869,199 (GRCm39)	missense	probably benign	0.00
R8302:Slc5a11	UTSW	7	122,847,162 (GRCm39)	missense	probably damaging	1.00
R8680:Slc5a11	UTSW	7	122,866,975 (GRCm39)	missense	probably benign	0.19
R9156:Slc5a11	UTSW	7	122,864,492 (GRCm39)	nonsense	probably null
R9358:Slc5a11	UTSW	7	122,857,775 (GRCm39)	missense	probably damaging	1.00
R9364:Slc5a11	UTSW	7	122,868,324 (GRCm39)	missense	probably damaging	0.96
R9370:Slc5a11	UTSW	7	122,834,855 (GRCm39)	missense	probably benign
Z1177:Slc5a11	UTSW	7	122,838,613 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGGTAATAGAGTCCCAAGC -3'
(R):5'- AATGACTAACTCCTGCCAAGG -3'

Sequencing Primer
(F):5'- TCAGAAAGCTCAAGGCCTATAG -3'
(R):5'- AAGGTCCTGTGACTCAGCAG -3'

Posted On

2020-06-30