Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Slc22a15'

735358

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

Accession Numbers

Essential gene?

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

Stock #

R9652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101763092-101831769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101790848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 219 (Y219F)

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: Y219F

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102541
Gene: ENSMUSG00000033147
AA Change: Y219F

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: Y219F

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138357
Gene: ENSMUSG00000033147
AA Change: Y219F

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 benign
Transcript: ENSMUST00000190824

SMART Domains

Protein: ENSMUSP00000139518
Gene: ENSMUSG00000033147

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: 99.9%
3x: 99.8%
10x: 99.6%
20x: 99.1%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,876,432 (GRCm39)	T395M	probably damaging	Het
Akap8l	T	C	17: 32,557,783 (GRCm39)	N35D	probably damaging	Het
Atr	T	A	9: 95,756,887 (GRCm39)	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,981,129 (GRCm39)	F86L	probably damaging	Het
Bmp1	T	C	14: 70,715,360 (GRCm39)	D925G	probably damaging	Het
Camkmt	A	T	17: 85,759,713 (GRCm39)	R284S	probably benign	Het
Cavin3	G	T	7: 105,131,304 (GRCm39)	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,334,553 (GRCm39)	H180R		Het
Cdh23	A	T	10: 60,167,135 (GRCm39)	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chpt1	T	C	10: 88,325,499 (GRCm39)	N122S	probably benign	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Cwh43	T	C	5: 73,572,340 (GRCm39)	S193P	probably benign	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dst	T	A	1: 34,219,458 (GRCm39)	I1966N	probably benign	Het
Eif3i	G	T	4: 129,489,094 (GRCm39)	F121L	probably benign	Het
Erbb2	T	C	11: 98,326,812 (GRCm39)	S1074P	probably damaging	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbn2	A	G	18: 58,146,722 (GRCm39)		probably null	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Gm2a	T	C	11: 54,999,764 (GRCm39)	V95A	probably benign	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Gramd4	G	A	15: 86,016,160 (GRCm39)	E504K	probably damaging	Het
Gusb	A	G	5: 130,026,652 (GRCm39)	S450P	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Katnbl1	T	A	2: 112,239,497 (GRCm39)	V232D	probably damaging	Het
Kifap3	T	C	1: 163,689,657 (GRCm39)	L547P	probably damaging	Het
Krt6a	C	T	15: 101,599,120 (GRCm39)	V482M	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Mical2	G	T	7: 111,945,996 (GRCm39)	R986L	probably damaging	Het
Mroh8	G	A	2: 157,094,970 (GRCm39)	Q339*	probably null	Het
Msln	A	T	17: 25,968,042 (GRCm39)	V541E	probably damaging	Het
Muc16	T	A	9: 18,498,178 (GRCm39)	M6590L	probably benign	Het
Nhsl3	T	C	4: 129,117,962 (GRCm39)	E279G	possibly damaging	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Nubp2	G	A	17: 25,103,382 (GRCm39)	T165I	probably damaging	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or2a7	A	G	6: 43,150,991 (GRCm39)	M24V	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Or6c33	T	C	10: 129,853,809 (GRCm39)	I193T	possibly damaging	Het
Or7a41	T	C	10: 78,871,230 (GRCm39)	I200T	probably benign	Het
Or8k39	A	T	2: 86,563,636 (GRCm39)	F107I	probably damaging	Het
P3h4	A	T	11: 100,304,499 (GRCm39)	C247*	probably null	Het
Pakap	G	A	4: 57,710,125 (GRCm39)	A357T	possibly damaging	Het
Plch2	T	A	4: 155,082,942 (GRCm39)	M569L	probably benign	Het
Plcl1	A	G	1: 55,735,450 (GRCm39)	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,904,526 (GRCm39)	N178K	probably benign	Het
Rasa4	T	C	5: 136,130,494 (GRCm39)	L340P	probably damaging	Het
Rassf10	A	G	7: 112,554,784 (GRCm39)	T462A	probably benign	Het
Rlf	G	C	4: 121,007,865 (GRCm39)	L482V	probably damaging	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,269,714 (GRCm39)	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,947,328 (GRCm39)	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,635,047 (GRCm39)	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,382,252 (GRCm39)	Q765R	probably damaging	Het
Senp6	T	A	9: 80,021,228 (GRCm39)	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Slco1b2	T	G	6: 141,594,358 (GRCm39)		probably null	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Ssb	C	A	2: 69,700,784 (GRCm39)	A288E	probably damaging	Het
Syne2	A	G	12: 76,101,620 (GRCm39)	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,527,698 (GRCm39)	S43P	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,173 (GRCm39)	R657*	probably null	Het
Traf6	T	C	2: 101,518,927 (GRCm39)	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,720,390 (GRCm39)	N424K	possibly damaging	Het
Ubqln3	T	C	7: 103,791,962 (GRCm39)	I43V	probably damaging	Het
Usp32	A	G	11: 84,921,317 (GRCm39)	V699A	probably damaging	Het
Vmn2r103	T	C	17: 20,014,027 (GRCm39)	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,951,107 (GRCm39)	S113P	probably benign	Het
Wdr7	T	A	18: 63,860,826 (GRCm39)	I161N	probably damaging	Het
Zfp474	A	T	18: 52,772,015 (GRCm39)	I223F	probably damaging	Het
Zfp583	A	G	7: 6,320,328 (GRCm39)	L228P	probably damaging	Het
Zfyve27	A	G	19: 42,165,856 (GRCm39)	T76A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- ATGTGTGCAGTTTAGCTCTTCC -3'
(R):5'- CTGCCTCTCACACTTAGTAGGG -3'

Sequencing Primer
(F):5'- TTCCCAGAATTCACTGCAGG -3'
(R):5'- TCTCACACTTAGTAGGGCAAGACTG -3'

Posted On

2022-11-14