Mutagenetix > Incidental Mutations

Incidental Mutation 'R6114:Slc22a15'

485000

Institutional Source

Beutler Lab

Gene Symbol

Slc22a15

Ensembl Gene

ENSMUSG00000033147

Gene Name

solute carrier family 22 (organic anion/cation transporter), member 15

Synonyms

A530052I06Rik, 2610034P21Rik

MMRRC Submission

044263-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101855776-101924453 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 101860852 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 346 (Y346*)

Ref Sequence

ENSEMBL: ENSMUSP00000139518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106928] [ENSMUST00000183255] [ENSMUST00000190824]

AlphaFold

Q504N2

Predicted Effect

probably null
Transcript: ENSMUST00000106928
AA Change: Y501*

SMART Domains

Protein: ENSMUSP00000102541
Gene: ENSMUSG00000033147
AA Change: Y501*

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Sugar_tr	58	495	6.9e-29	PFAM
Pfam:MFS_1	69	450	3.4e-24	PFAM
low complexity region	524	532	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182130

Predicted Effect

probably benign
Transcript: ENSMUST00000183255

SMART Domains

Protein: ENSMUSP00000138357
Gene: ENSMUSG00000033147

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Sugar_tr	56	244	5.2e-13	PFAM
Pfam:MFS_1	69	244	7.6e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183293

Predicted Effect

probably null
Transcript: ENSMUST00000190824
AA Change: Y346*

SMART Domains

Protein: ENSMUSP00000139518
Gene: ENSMUSG00000033147
AA Change: Y346*

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Pfam:Sugar_tr	88	341	3.3e-5	PFAM
low complexity region	369	377	N/A	INTRINSIC

Meta Mutation Damage Score

0.9707

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

94% (60/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	C	A	14: 68,571,803	V237L	probably benign	Het
Aff1	T	C	5: 103,842,297	S878P	probably damaging	Het
Ahcy	A	C	2: 155,062,159	L386R	probably damaging	Het
Ank2	T	C	3: 127,011,051	N607D	probably damaging	Het
Arid5b	T	C	10: 68,097,744	D776G	possibly damaging	Het
Art4	T	A	6: 136,857,213	T11S	unknown	Het
Blm	T	C	7: 80,513,487	T39A	probably damaging	Het
Cabin1	T	A	10: 75,747,971	M221L	probably benign	Het
Cacna1c	T	C	6: 118,596,140	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,975,201	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,525,330	E339G	probably damaging	Het
Cd14	A	G	18: 36,725,953	W150R	probably damaging	Het
Cep162	A	G	9: 87,203,710	I1187T	probably benign	Het
Cntnap4	A	G	8: 112,841,753	H807R	probably damaging	Het
Copb1	T	A	7: 114,246,801	H178L	probably benign	Het
Cpxm2	A	G	7: 132,154,306	V103A	probably benign	Het
Egfr	A	G	11: 16,904,374	T849A	possibly damaging	Het
Endou	T	A	15: 97,713,876	K294*	probably null	Het
Fam208b	G	A	13: 3,590,081	T352M	probably damaging	Het
Gm884	T	A	11: 103,617,791		probably benign	Het
Hoxd9	A	G	2: 74,699,365	N322D	probably damaging	Het
Hsph1	C	A	5: 149,627,387	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,059,759	T97S	possibly damaging	Het
Itga10	G	T	3: 96,649,035	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,692	E222G	probably damaging	Het
Lpar5	A	G	6: 125,081,676	N120S	probably damaging	Het
Lrrk2	A	G	15: 91,747,826	I1318V	probably benign	Het
Lst1	T	C	17: 35,188,360	T11A	possibly damaging	Het
Mfn1	C	A	3: 32,563,836	A106D	probably damaging	Het
Ms4a12	G	T	19: 11,215,290	N227K	probably benign	Het
Nr1h4	T	A	10: 89,478,816	N273Y	possibly damaging	Het
Nrd1	A	T	4: 109,044,585	K617M	probably damaging	Het
Olfr355	A	T	2: 36,927,689	C142S	possibly damaging	Het
Olfr516	A	T	7: 108,845,386	M208K	possibly damaging	Het
Olfr771	T	A	10: 129,160,333	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,807,872	T442R	probably benign	Het
Pcnx2	T	C	8: 125,773,947	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,511,112		probably null	Het
Pitx2	C	G	3: 129,204,413		probably null	Het
Reck	T	A	4: 43,922,895	I390N	probably damaging	Het
Rora	A	G	9: 69,371,323	N254S	probably benign	Het
Samd4b	A	G	7: 28,522,792		probably null	Het
Scn8a	A	G	15: 101,040,596	T1949A	probably damaging	Het
Slc24a5	A	G	2: 125,083,092	T218A	probably benign	Het
Slc38a10	G	A	11: 120,129,312	Q305*	probably null	Het
Slc45a4	G	A	15: 73,605,604	P28S	probably damaging	Het
Smyd5	A	T	6: 85,440,262		probably benign	Het
Sox8	T	C	17: 25,567,520	D403G	probably damaging	Het
Stx7	A	G	10: 24,184,985		probably null	Het
Svil	T	C	18: 5,108,639	S1522P	probably damaging	Het
Sycp2	G	C	2: 178,348,245	R1403G	probably benign	Het
Tcf25	A	T	8: 123,384,375	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,204,640	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,891,868	S26C	probably damaging	Het
Usp13	C	T	3: 32,854,669	P155S	probably damaging	Het
Usp17lb	T	A	7: 104,840,364	D451V	possibly damaging	Het
Vmn1r173	A	G	7: 23,702,829	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 19,812,325	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376	P587L	probably benign	Het
Wdr24	C	T	17: 25,824,605	H134Y	probably benign	Het
Zbtb40	T	A	4: 136,988,691	I988F	probably damaging	Het
Zfp536	A	T	7: 37,479,736	I84N	probably damaging	Het
Zfp651	T	A	9: 121,765,595	F540Y	probably damaging	Het

Other mutations in Slc22a15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Slc22a15	APN	3	101860820	missense	probably benign	0.00
IGL01120:Slc22a15	APN	3	101897166	missense	probably damaging	1.00
IGL01345:Slc22a15	APN	3	101880176	missense	probably benign	0.00
IGL01871:Slc22a15	APN	3	101860794	splice site	probably benign
IGL01880:Slc22a15	APN	3	101860848	missense	probably benign	0.32
R0310:Slc22a15	UTSW	3	101860511	missense	probably benign	0.12
R1758:Slc22a15	UTSW	3	101860453	nonsense	probably null
R1937:Slc22a15	UTSW	3	101880189	critical splice acceptor site	probably null
R3804:Slc22a15	UTSW	3	101897274	missense	probably damaging	1.00
R4830:Slc22a15	UTSW	3	101875603	intron	probably benign
R5564:Slc22a15	UTSW	3	101864589	missense	probably benign	0.34
R5684:Slc22a15	UTSW	3	101862955	missense	probably damaging	1.00
R6034:Slc22a15	UTSW	3	101862919	missense	possibly damaging	0.80
R6034:Slc22a15	UTSW	3	101862919	missense	possibly damaging	0.80
R6481:Slc22a15	UTSW	3	101883583	missense	possibly damaging	0.88
R6641:Slc22a15	UTSW	3	101875706	missense	possibly damaging	0.52
R6945:Slc22a15	UTSW	3	101924114	missense	probably damaging	0.99
R7354:Slc22a15	UTSW	3	101864581	missense	probably benign	0.09
R7373:Slc22a15	UTSW	3	101877897	missense	possibly damaging	0.78
R7431:Slc22a15	UTSW	3	101897940	missense	probably benign	0.13
R7758:Slc22a15	UTSW	3	101897935	critical splice donor site	probably null
R8058:Slc22a15	UTSW	3	101864610	missense	probably benign
R8129:Slc22a15	UTSW	3	101915342	missense	possibly damaging	0.82
R8838:Slc22a15	UTSW	3	101883533	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGAGAATTACCACCCAGGC -3'
(R):5'- CCTGCTGAGAAGCTGAATGG -3'

Sequencing Primer
(F):5'- TTTTGAGACAGGGACCCATGC -3'
(R):5'- CTGAGAAGCTGAATGGTTTGTTTG -3'

Posted On

2017-08-16