Mutagenetix > Incidental Mutations

Incidental Mutation 'R6945:Slc22a15'

540830

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R6945 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101855776-101924453 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101924114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2 (E2G)

Ref Sequence

ENSEMBL: ENSMUSP00000139518 (fasta)

Gene Model

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

AlphaFold

Q504N2

Predicted Effect

probably benign
Transcript: ENSMUST00000106928
AA Change: E2G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102541
Gene: ENSMUSG00000033147
AA Change: E2G

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

possibly damaging
Transcript: ENSMUST00000183255
AA Change: E2G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138357
Gene: ENSMUSG00000033147
AA Change: E2G

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

probably damaging
Transcript: ENSMUST00000190824
AA Change: E2G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139518
Gene: ENSMUSG00000033147
AA Change: E2G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

96% (51/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	C	5: 109,676,845	N246K	probably benign	Het
AA792892	C	T	5: 94,383,631	H125Y	possibly damaging	Het
Abcc5	T	A	16: 20,400,009	T208S	probably benign	Het
Acaa2	A	G	18: 74,793,309	E112G	probably benign	Het
Adgrb1	A	G	15: 74,550,024	N881S	probably damaging	Het
Adgre1	A	G	17: 57,410,844	E314G	probably benign	Het
Adgre1	A	G	17: 57,420,399	E443G	probably benign	Het
Akp3	A	G	1: 87,125,631	Y102C	probably damaging	Het
Birc6	A	G	17: 74,579,531	N618S	probably benign	Het
Bpifc	A	G	10: 85,979,214	V296A	probably benign	Het
Cacna2d3	G	A	14: 28,969,318		probably benign	Het
Cacnb4	T	C	2: 52,474,954	N99S	probably damaging	Het
Cd38	A	G	5: 43,908,006	Y283C	probably damaging	Het
Celf4	T	A	18: 25,496,236	Q411L	probably damaging	Het
Cemip	A	T	7: 83,998,547	H108Q	probably damaging	Het
Col23a1	A	G	11: 51,561,893	E225G	unknown	Het
Dnah11	T	C	12: 118,060,310	E1902G	probably damaging	Het
Dst	A	G	1: 34,190,490	D2063G	probably damaging	Het
Fsip2	A	T	2: 82,992,840	I6306L	probably benign	Het
Furin	A	G	7: 80,391,090	S667P	possibly damaging	Het
Glmp	T	A	3: 88,325,832	S92R	probably benign	Het
Gm11563	C	G	11: 99,658,472	C152S	unknown	Het
Gm3486	A	G	14: 41,484,561	V185A	probably benign	Het
Gm4070	G	A	7: 105,901,980	Q622*	probably null	Het
Hyal1	C	A	9: 107,579,170	A102E	probably damaging	Het
Invs	T	C	4: 48,421,785	C806R	probably benign	Het
L1td1	T	C	4: 98,733,696	V165A	probably benign	Het
Lama1	A	G	17: 67,813,866	T2666A		Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrrc8a	A	G	2: 30,256,227	Y351C	probably damaging	Het
Myh7b	T	C	2: 155,622,232	F551S	possibly damaging	Het
Myo19	A	G	11: 84,897,560	T333A	probably benign	Het
Nrp2	A	T	1: 62,760,788	N387I	probably damaging	Het
Oas2	T	C	5: 120,736,139	D543G	probably benign	Het
Olfr1040	A	G	2: 86,146,084	S217P	probably damaging	Het
Olfr117	A	G	17: 37,659,514	I273T	possibly damaging	Het
Pak7	A	G	2: 136,100,939	V427A	probably benign	Het
Pfas	G	A	11: 69,000,530	A247V	probably benign	Het
Psat1	T	A	19: 15,917,181	T115S	probably benign	Het
Psme4	T	A	11: 30,837,437	D1077E	probably benign	Het
Rabgap1l	A	G	1: 160,682,182	S442P	probably benign	Het
Ralgapa1	A	G	12: 55,776,191	M280T	possibly damaging	Het
Rb1cc1	A	T	1: 6,261,032	E394D	probably damaging	Het
Seh1l	T	C	18: 67,789,390	V271A	probably benign	Het
Sf3b1	A	T	1: 54,997,156	N919K	probably benign	Het
Sftpd	A	G	14: 41,174,492	S245P	possibly damaging	Het
Spta1	A	G	1: 174,209,325	D1134G	possibly damaging	Het
Syna	A	G	5: 134,558,961	V378A	probably damaging	Het
Tchp	A	G	5: 114,709,350	K77E	possibly damaging	Het
Tescl	T	C	7: 24,333,531	N123S	probably benign	Het
Trio	C	T	15: 27,824,090	R1443Q	probably damaging	Het
Trrap	A	T	5: 144,790,855	Y462F	possibly damaging	Het
Vmn1r78	A	G	7: 12,152,905	T148A	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly 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
R6114:Slc22a15	UTSW	3	101860852	nonsense	probably null
R6481:Slc22a15	UTSW	3	101883583	missense	possibly damaging	0.88
R6641:Slc22a15	UTSW	3	101875706	missense	possibly damaging	0.52
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'- CTTTCAACTAGCTCTGGTGGCG -3'
(R):5'- TCACTTCTGACAGGAAGCGG -3'

Sequencing Primer
(F):5'- AAGTGTCAGTGCCAGGCTC -3'
(R):5'- GACCAGCATCGCATCTCCG -3'

Posted On

2018-11-28