Mutagenetix > Incidental Mutation

Incidental Mutation 'R1879:Slc5a11'

211392

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

039900-MU

Accession Numbers

Essential gene?

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

Stock #

R1879 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122814003-122872476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122838671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 96 (I96N)

Ref Sequence

ENSEMBL: ENSMUSP00000127977 (fasta)

Gene Model

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

AlphaFold

Q8K0E3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033035
AA Change: I96N

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033035
Gene: ENSMUSG00000030769
AA Change: I96N

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

possibly damaging
Transcript: ENSMUST00000127655
AA Change: I96N

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117956
Gene: ENSMUSG00000030769
AA Change: I96N

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 benign
Transcript: ENSMUST00000131461

SMART Domains

Protein: ENSMUSP00000123027
Gene: ENSMUSG00000030769

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131933
AA Change: I96N

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121459
Gene: ENSMUSG00000030769
AA Change: I96N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167299
AA Change: I96N

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127977
Gene: ENSMUSG00000030769
AA Change: I96N

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: 97.3%
3x: 96.6%
10x: 94.9%
20x: 91.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,686,488 (GRCm39)	D268G	possibly damaging	Het
Abce1	T	C	8: 80,414,085 (GRCm39)	N542S	probably benign	Het
Abcf1	T	A	17: 36,272,704 (GRCm39)	E260D	probably benign	Het
Ahcy	A	G	2: 154,906,072 (GRCm39)		probably null	Het
Akap13	C	T	7: 75,260,475 (GRCm39)	A1033V	probably benign	Het
Alkbh6	A	G	7: 30,011,320 (GRCm39)	N46S	probably damaging	Het
Ankrd34c	A	C	9: 89,612,126 (GRCm39)	L72V	probably damaging	Het
Arf4	T	A	14: 26,368,076 (GRCm39)	N25K	probably damaging	Het
Arhgef4	A	G	1: 34,761,521 (GRCm39)	D259G	unknown	Het
Cavin1	C	A	11: 100,861,036 (GRCm39)	G86V	probably damaging	Het
Ces1d	G	A	8: 93,916,126 (GRCm39)	T167I	probably benign	Het
Cfb	T	C	17: 35,079,536 (GRCm39)	I754V	probably benign	Het
Clcnkb	C	T	4: 141,135,130 (GRCm39)	R536H	possibly damaging	Het
Clpb	T	G	7: 101,355,690 (GRCm39)	S181R	probably benign	Het
Col1a1	T	C	11: 94,842,051 (GRCm39)	M1366T	unknown	Het
Cped1	T	A	6: 22,085,014 (GRCm39)		probably null	Het
Crip1	G	A	12: 113,116,952 (GRCm39)	C82Y	probably damaging	Het
Csmd3	T	C	15: 47,520,915 (GRCm39)	T2810A	possibly damaging	Het
Cyp2b9	A	T	7: 25,897,994 (GRCm39)	D266V	probably damaging	Het
Cyp46a1	A	G	12: 108,319,385 (GRCm39)	D294G	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dst	A	G	1: 34,227,924 (GRCm39)	E1514G	probably benign	Het
Dync1h1	A	G	12: 110,591,070 (GRCm39)	E1046G	probably benign	Het
Eya2	T	C	2: 165,506,726 (GRCm39)	V4A	probably benign	Het
Frem3	A	T	8: 81,338,567 (GRCm39)	R287*	probably null	Het
Fuca2	T	A	10: 13,383,000 (GRCm39)	C323S	possibly damaging	Het
Ggt7	T	C	2: 155,356,707 (GRCm39)	E4G	possibly damaging	Het
Gli1	C	T	10: 127,169,606 (GRCm39)	R383H	probably damaging	Het
Gm4559	C	A	7: 141,827,998 (GRCm39)	V35F	unknown	Het
Gpm6a	T	A	8: 55,490,365 (GRCm39)	C14S	probably damaging	Het
Hcn2	A	T	10: 79,562,023 (GRCm39)	I340F	probably benign	Het
Hdac9	T	A	12: 34,440,332 (GRCm39)	D349V	probably damaging	Het
Krt34	T	C	11: 99,929,118 (GRCm39)	D364G	possibly damaging	Het
Mon2	C	T	10: 122,838,790 (GRCm39)	R1565H	probably damaging	Het
Myb	T	A	10: 21,017,876 (GRCm39)	M482L	probably benign	Het
Nckap1l	A	T	15: 103,373,028 (GRCm39)	I294F	probably benign	Het
Nr2e1	A	G	10: 42,444,367 (GRCm39)		probably null	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or1r1	T	A	11: 73,875,368 (GRCm39)	D22V	probably benign	Het
Or4k38	A	T	2: 111,165,808 (GRCm39)	I205N	possibly damaging	Het
Or52h7	T	C	7: 104,214,118 (GRCm39)	V230A	possibly damaging	Het
Pde8b	A	T	13: 95,221,723 (GRCm39)	I308N	possibly damaging	Het
Pdzd2	T	C	15: 12,373,986 (GRCm39)	R2050G	possibly damaging	Het
Phc3	C	A	3: 30,968,607 (GRCm39)	S840I	probably damaging	Het
Piezo2	T	A	18: 63,247,031 (GRCm39)	Y327F	probably damaging	Het
Pnliprp1	A	T	19: 58,732,516 (GRCm39)	I460F	probably benign	Het
Pphln1	T	G	15: 93,321,927 (GRCm39)	D35E	probably damaging	Het
Prdm6	G	A	18: 53,701,289 (GRCm39)	V360I	probably damaging	Het
Rab35	T	A	5: 115,778,219 (GRCm39)	W62R	probably damaging	Het
Sct	G	T	7: 140,858,612 (GRCm39)	P70Q	probably damaging	Het
Sdf4	A	G	4: 156,094,304 (GRCm39)	N328S	probably damaging	Het
Senp5	A	T	16: 31,802,642 (GRCm39)	S488R	probably damaging	Het
Serpina3n	A	G	12: 104,375,213 (GRCm39)	E95G	probably benign	Het
Sfswap	C	T	5: 129,618,392 (GRCm39)	A442V	probably benign	Het
Sgcd	T	C	11: 47,246,068 (GRCm39)	I45V	probably benign	Het
Sgcg	T	C	14: 61,474,346 (GRCm39)		probably null	Het
Slc39a12	G	T	2: 14,448,868 (GRCm39)	V489L	probably benign	Het
Slc6a12	A	G	6: 121,324,382 (GRCm39)	D2G	probably damaging	Het
Slc8a1	T	C	17: 81,955,442 (GRCm39)	D532G	probably damaging	Het
Smarcd3	C	A	5: 24,798,019 (GRCm39)	C465F	probably damaging	Het
Smc1b	T	A	15: 84,976,268 (GRCm39)	Q813L	probably benign	Het
Spag1	G	A	15: 36,181,916 (GRCm39)	E25K	probably damaging	Het
Sptan1	A	T	2: 29,885,540 (GRCm39)	N715I	probably damaging	Het
Tas1r2	T	A	4: 139,397,006 (GRCm39)	Y782N	probably damaging	Het
Thap3	A	T	4: 152,067,593 (GRCm39)	C162S	probably benign	Het
Topaz1	T	A	9: 122,578,684 (GRCm39)	D531E	possibly damaging	Het
Vmn1r25	C	T	6: 57,955,912 (GRCm39)	A126T	possibly damaging	Het
Zfhx2	A	G	14: 55,303,074 (GRCm39)	F1637L	probably benign	Het
Zfhx2	T	C	14: 55,310,206 (GRCm39)	Y780C	possibly damaging	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het
Zfp956	A	T	6: 47,940,678 (GRCm39)	T346S	probably benign	Het
Zkscan1	C	T	5: 138,095,410 (GRCm39)	A219V	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
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
R8088:Slc5a11	UTSW	7	122,864,951 (GRCm39)	missense	probably benign	0.14
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'- TGCACTGCACACATAAGGC -3'
(R):5'- TAACTTTTGTTGGCCAGGAGC -3'

Sequencing Primer
(F):5'- AGAATGGTCTCACAGTCTATTTCC -3'
(R):5'- AGGAGCACCTTTGAAGCCTC -3'

Posted On

2014-06-30