Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03384:Slc22a20'

420803

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc22a20

Ensembl Gene

ENSMUSG00000037451

Gene Name

solute carrier family 22 (organic anion transporter), member 20

Synonyms

LOC381203, mOAT6

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

IGL03384

Quality Score

Status

Chromosome

Chromosomal Location

6020262-6036171 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 6030402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 343 (C343*)

Ref Sequence

ENSEMBL: ENSMUSP00000049473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041827]

AlphaFold

Q80UJ1

Predicted Effect

probably null
Transcript: ENSMUST00000041827
AA Change: C343*

SMART Domains

Protein: ENSMUSP00000049473
Gene: ENSMUSG00000037451
AA Change: C343*

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	42	53	N/A	INTRINSIC
Pfam:Sugar_tr	100	521	2.5e-27	PFAM
Pfam:MFS_1	132	475	1.6e-23	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	G	11: 72,086,673 (GRCm39)	I246T	possibly damaging	Het
Ablim2	C	T	5: 36,032,216 (GRCm39)	R614C	probably damaging	Het
B4galt7	T	C	13: 55,757,102 (GRCm39)	L265P	probably damaging	Het
Col4a4	C	T	1: 82,462,159 (GRCm39)	C1072Y	probably benign	Het
Cxcr2	T	C	1: 74,197,950 (GRCm39)	V148A	probably damaging	Het
Dnah14	G	A	1: 181,573,514 (GRCm39)	V2942M	probably benign	Het
Fam124b	T	A	1: 80,177,673 (GRCm39)	H442L	probably benign	Het
Haus6	T	C	4: 86,501,762 (GRCm39)	H703R	probably benign	Het
Ice1	T	C	13: 70,751,368 (GRCm39)	T1573A	probably benign	Het
Iftap	G	T	2: 101,415,608 (GRCm39)	T115N	probably benign	Het
Ighv1-31	A	G	12: 114,793,093 (GRCm39)	F48L	probably benign	Het
Iws1	C	A	18: 32,226,203 (GRCm39)	A697D	probably damaging	Het
Jhy	T	A	9: 40,872,228 (GRCm39)	N94Y	probably benign	Het
Kank2	C	T	9: 21,685,874 (GRCm39)	V667M	possibly damaging	Het
Mcam	G	A	9: 44,051,809 (GRCm39)		probably benign	Het
Muc5ac	A	T	7: 141,366,140 (GRCm39)	I2099F	possibly damaging	Het
Myo7a	T	C	7: 97,742,800 (GRCm39)	I410V	probably damaging	Het
Nub1	A	T	5: 24,902,425 (GRCm39)		probably benign	Het
Nub1	A	T	5: 24,902,424 (GRCm39)		probably null	Het
Or10g9b	T	C	9: 39,917,766 (GRCm39)	T160A	probably benign	Het
Panx2	C	T	15: 88,952,322 (GRCm39)	A271V	possibly damaging	Het
Papss1	T	A	3: 131,285,113 (GRCm39)	H13Q	probably damaging	Het
Pkd1	A	G	17: 24,784,871 (GRCm39)	T438A	probably benign	Het
Ppdpf	T	C	2: 180,829,673 (GRCm39)	S43P	probably benign	Het
Ptchd4	T	A	17: 42,813,481 (GRCm39)	C461S	probably damaging	Het
Rapgef2	A	G	3: 78,990,853 (GRCm39)	F985S	probably damaging	Het
Rbm25	T	C	12: 83,706,297 (GRCm39)	I214T	probably benign	Het
Sgpp1	T	C	12: 75,762,880 (GRCm39)		probably benign	Het
Slc22a22	T	C	15: 57,117,612 (GRCm39)	I310V	probably benign	Het
Slc6a13	T	C	6: 121,309,350 (GRCm39)	F287S	probably damaging	Het
Usp30	A	G	5: 114,259,635 (GRCm39)	D447G	probably damaging	Het
Vmn1r78	A	T	7: 11,887,136 (GRCm39)	Y249F	possibly damaging	Het
Vmn2r106	T	C	17: 20,488,405 (GRCm39)	T665A	probably damaging	Het
Vps37b	A	G	5: 124,145,670 (GRCm39)		probably null	Het
Wfdc1	T	A	8: 120,413,016 (GRCm39)	N198K	probably benign	Het

Other mutations in Slc22a20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Slc22a20	APN	19	6,020,544 (GRCm39)	missense	probably benign	0.13
IGL02745:Slc22a20	APN	19	6,022,901 (GRCm39)	missense	probably damaging	1.00
IGL02813:Slc22a20	APN	19	6,034,886 (GRCm39)	missense	probably benign	0.00
R0309:Slc22a20	UTSW	19	6,022,985 (GRCm39)	missense	probably damaging	1.00
R0762:Slc22a20	UTSW	19	6,036,036 (GRCm39)	missense	probably damaging	0.99
R1652:Slc22a20	UTSW	19	6,022,970 (GRCm39)	missense	probably damaging	1.00
R1670:Slc22a20	UTSW	19	6,022,876 (GRCm39)	splice site	probably benign
R1800:Slc22a20	UTSW	19	6,035,695 (GRCm39)	missense	probably benign	0.01
R1923:Slc22a20	UTSW	19	6,021,464 (GRCm39)	missense	probably benign	0.00
R2202:Slc22a20	UTSW	19	6,021,553 (GRCm39)	missense	possibly damaging	0.70
R4025:Slc22a20	UTSW	19	6,035,808 (GRCm39)	missense	probably damaging	0.99
R4495:Slc22a20	UTSW	19	6,034,952 (GRCm39)	missense	probably benign	0.27
R4751:Slc22a20	UTSW	19	6,030,488 (GRCm39)	missense	probably benign	0.01
R6207:Slc22a20	UTSW	19	6,035,969 (GRCm39)	missense	probably damaging	1.00
R6861:Slc22a20	UTSW	19	6,021,838 (GRCm39)	missense	probably benign	0.01
R7243:Slc22a20	UTSW	19	6,021,599 (GRCm39)	missense	probably damaging	1.00
R8055:Slc22a20	UTSW	19	6,021,439 (GRCm39)	missense	probably benign	0.02
R8359:Slc22a20	UTSW	19	6,021,554 (GRCm39)	missense	probably benign	0.00
R8552:Slc22a20	UTSW	19	6,035,698 (GRCm39)	missense	probably damaging	1.00
R9165:Slc22a20	UTSW	19	6,032,879 (GRCm39)	missense	probably damaging	1.00
R9232:Slc22a20	UTSW	19	6,023,009 (GRCm39)	missense	possibly damaging	0.93
R9453:Slc22a20	UTSW	19	6,023,024 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02