Mutagenetix > Incidental Mutation

Incidental Mutation 'R6034:Slc22a15'

486430

Institutional Source

Beutler Lab

Gene Symbol

Slc22a15

Ensembl Gene

ENSMUSG00000033147

Gene Name

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

Synonyms

2610034P21Rik, A530052I06Rik

MMRRC Submission

044206-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6034 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101763092-101831769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101770235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 451 (F451L)

Ref Sequence

ENSEMBL: ENSMUSP00000102541 (fasta)

Gene Model

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

AlphaFold

Q504N2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106928
AA Change: F451L

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102541
Gene: ENSMUSG00000033147
AA Change: F451L

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 benign
Transcript: ENSMUST00000190824
AA Change: F296L

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139518
Gene: ENSMUSG00000033147
AA Change: F296L

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

0.1377

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (55/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	G	T	1: 34,760,984 (GRCm39)	G80V	unknown	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Atad2	A	T	15: 57,971,959 (GRCm39)	L306Q	probably damaging	Het
Atp2b4	T	A	1: 133,659,645 (GRCm39)		probably null	Het
Atp6v1c2	C	A	12: 17,357,501 (GRCm39)	G95V	possibly damaging	Het
Birc6	T	A	17: 74,922,278 (GRCm39)	V2192E	probably damaging	Het
Catsperb	A	G	12: 101,542,091 (GRCm39)	E597G	probably benign	Het
Ccdc40	A	G	11: 119,133,898 (GRCm39)	M556V	possibly damaging	Het
Ccin	G	A	4: 43,985,354 (GRCm39)	R587K	probably benign	Het
Cdipt	T	G	7: 126,577,497 (GRCm39)	V81G	probably damaging	Het
Cert1	A	C	13: 96,746,308 (GRCm39)	I236L	probably benign	Het
Cfh	T	C	1: 140,090,869 (GRCm39)	K40E	probably damaging	Het
Cps1	T	A	1: 67,196,872 (GRCm39)		probably null	Het
Dnah7c	A	T	1: 46,496,418 (GRCm39)	D101V	probably benign	Het
Fastkd3	T	A	13: 68,731,729 (GRCm39)	W17R	probably damaging	Het
Gapdh	T	C	6: 125,142,261 (GRCm39)	D25G	probably benign	Het
H1f4	A	G	13: 23,806,296 (GRCm39)	L62P	probably damaging	Het
H2-Ob	T	C	17: 34,460,192 (GRCm39)	V30A	probably damaging	Het
Hmgxb3	T	A	18: 61,265,594 (GRCm39)	H1128L	probably damaging	Het
Hspbp1	A	T	7: 4,680,711 (GRCm39)	I255N	probably damaging	Het
Imp4	A	G	1: 34,482,537 (GRCm39)	D91G	probably damaging	Het
Itprid1	T	A	6: 55,944,666 (GRCm39)	D462E	possibly damaging	Het
Kcnip4	G	T	5: 48,548,283 (GRCm39)	R241S	possibly damaging	Het
Lilra5	T	C	7: 4,245,133 (GRCm39)	L259P	probably benign	Het
Lipf	T	C	19: 33,942,289 (GRCm39)	I73T	probably benign	Het
Lsm7	T	C	10: 80,688,742 (GRCm39)		probably null	Het
Luzp2	T	A	7: 54,816,972 (GRCm39)	L141M	probably damaging	Het
Malrd1	T	A	2: 15,850,137 (GRCm39)	V1252E	possibly damaging	Het
Map10	T	C	8: 126,399,205 (GRCm39)	L866P	probably damaging	Het
Mink1	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 70,497,866 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,952,460 (GRCm39)	I355V	possibly damaging	Het
Mtrf1l	T	A	10: 5,773,834 (GRCm39)		probably benign	Het
Myo5c	A	T	9: 75,163,187 (GRCm39)	T339S	probably benign	Het
Naa15	A	G	3: 51,350,242 (GRCm39)	D163G	probably damaging	Het
Oosp2	A	G	19: 11,628,879 (GRCm39)	F74S	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4f7	T	A	2: 111,644,702 (GRCm39)	Y123F	probably damaging	Het
Pard3	C	G	8: 127,791,077 (GRCm39)		probably benign	Het
Pcdha1	T	A	18: 37,063,651 (GRCm39)	I105N	probably damaging	Het
Pcdhgb8	A	G	18: 37,895,601 (GRCm39)	T224A	possibly damaging	Het
Phf12	A	G	11: 77,908,895 (GRCm39)	N325S	probably benign	Het
Prom1	T	A	5: 44,201,750 (GRCm39)		probably null	Het
Raet1e	A	G	10: 22,057,990 (GRCm39)	*252W	probably null	Het
Sap130	T	C	18: 31,822,459 (GRCm39)	V655A	possibly damaging	Het
Sec16b	A	T	1: 157,380,509 (GRCm39)	K360I	probably damaging	Het
Sec23ip	C	T	7: 128,351,927 (GRCm39)	T101I	possibly damaging	Het
Selenoo	A	G	15: 88,983,546 (GRCm39)	K529R	probably benign	Het
St6gal2	T	A	17: 55,789,982 (GRCm39)	S339T	probably benign	Het
Stard13	A	T	5: 151,018,965 (GRCm39)		probably null	Het
Synm	A	G	7: 67,384,653 (GRCm39)	V561A	probably damaging	Het
Tc2n	A	T	12: 101,617,460 (GRCm39)		probably null	Het
Ugt2b36	T	A	5: 87,229,377 (GRCm39)	D236V	probably damaging	Het
Vmn1r65	A	G	7: 6,011,868 (GRCm39)	L122P	probably damaging	Het
Zc3h14	T	C	12: 98,737,632 (GRCm39)	S40P	probably benign	Het
Zc3hav1l	C	A	6: 38,272,215 (GRCm39)	G185C	probably damaging	Het
Zfp563	G	A	17: 33,323,935 (GRCm39)	A177T	probably damaging	Het

Other mutations in Slc22a15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Slc22a15	APN	3	101,768,136 (GRCm39)	missense	probably benign	0.00
IGL01120:Slc22a15	APN	3	101,804,482 (GRCm39)	missense	probably damaging	1.00
IGL01345:Slc22a15	APN	3	101,787,492 (GRCm39)	missense	probably benign	0.00
IGL01871:Slc22a15	APN	3	101,768,110 (GRCm39)	splice site	probably benign
IGL01880:Slc22a15	APN	3	101,768,164 (GRCm39)	missense	probably benign	0.32
R0310:Slc22a15	UTSW	3	101,767,827 (GRCm39)	missense	probably benign	0.12
R1758:Slc22a15	UTSW	3	101,767,769 (GRCm39)	nonsense	probably null
R1937:Slc22a15	UTSW	3	101,787,505 (GRCm39)	critical splice acceptor site	probably null
R3804:Slc22a15	UTSW	3	101,804,590 (GRCm39)	missense	probably damaging	1.00
R4830:Slc22a15	UTSW	3	101,782,919 (GRCm39)	intron	probably benign
R5564:Slc22a15	UTSW	3	101,771,905 (GRCm39)	missense	probably benign	0.34
R5684:Slc22a15	UTSW	3	101,770,271 (GRCm39)	missense	probably damaging	1.00
R6034:Slc22a15	UTSW	3	101,770,235 (GRCm39)	missense	possibly damaging	0.80
R6114:Slc22a15	UTSW	3	101,768,168 (GRCm39)	nonsense	probably null
R6481:Slc22a15	UTSW	3	101,790,899 (GRCm39)	missense	possibly damaging	0.88
R6641:Slc22a15	UTSW	3	101,783,022 (GRCm39)	missense	possibly damaging	0.52
R6945:Slc22a15	UTSW	3	101,831,430 (GRCm39)	missense	probably damaging	0.99
R7354:Slc22a15	UTSW	3	101,771,897 (GRCm39)	missense	probably benign	0.09
R7373:Slc22a15	UTSW	3	101,785,213 (GRCm39)	missense	possibly damaging	0.78
R7431:Slc22a15	UTSW	3	101,805,256 (GRCm39)	missense	probably benign	0.13
R7758:Slc22a15	UTSW	3	101,805,251 (GRCm39)	critical splice donor site	probably null
R8058:Slc22a15	UTSW	3	101,771,926 (GRCm39)	missense	probably benign
R8129:Slc22a15	UTSW	3	101,822,658 (GRCm39)	missense	possibly damaging	0.82
R8838:Slc22a15	UTSW	3	101,790,849 (GRCm39)	missense	probably damaging	1.00
R9652:Slc22a15	UTSW	3	101,790,848 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CAGTGGGTCCATGTGAGCAAAC -3'
(R):5'- ACTTACTGTGTCTGGCTCATTG -3'

Sequencing Primer
(F):5'- TCCATGTGAGCAAACAGTCAG -3'
(R):5'- CTTACTGTGTCTGGCTCATTGTGTTC -3'

Posted On

2017-08-16