Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01581:Slc22a26'

91372

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc22a26

Ensembl Gene

ENSMUSG00000053303

Gene Name

solute carrier family 22 (organic cation transporter), member 26

Synonyms

BC014805

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL01581

Quality Score

Status

Chromosome

Chromosomal Location

7758406-7780032 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7779549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 89 (R89H)

Ref Sequence

ENSEMBL: ENSMUSP00000113607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065634] [ENSMUST00000120522]

AlphaFold

Q91WJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000065634
AA Change: R89H

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: R89H

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	53	64	N/A	INTRINSIC
Pfam:Sugar_tr	96	528	1.1e-23	PFAM
Pfam:MFS_1	124	370	7.8e-17	PFAM
Pfam:MFS_1	350	547	2.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120522
AA Change: R89H

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: R89H

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	53	64	N/A	INTRINSIC
Pfam:Sugar_tr	94	527	4.9e-23	PFAM
Pfam:MFS_1	124	358	1.2e-15	PFAM
Pfam:MFS_1	349	547	2.4e-12	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Gmfg	A	T	7: 28,142,646 (GRCm39)	N18I	probably benign	Het
Mex3a	T	C	3: 88,443,671 (GRCm39)	I249T	probably damaging	Het
Mgp	T	C	6: 136,852,660 (GRCm39)		probably benign	Het
Sdsl	A	G	5: 120,597,632 (GRCm39)	V225A	possibly damaging	Het
Sh3pxd2b	A	G	11: 32,337,973 (GRCm39)	K93R	possibly damaging	Het
Smpd2	T	C	10: 41,365,524 (GRCm39)	D28G	possibly damaging	Het
Vmn2r70	A	T	7: 85,213,122 (GRCm39)		probably null	Het

Other mutations in Slc22a26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Slc22a26	APN	19	7,760,201 (GRCm39)	missense	probably damaging	0.99
IGL00338:Slc22a26	APN	19	7,760,340 (GRCm39)	missense	probably benign	0.25
IGL00736:Slc22a26	APN	19	7,767,527 (GRCm39)	missense	possibly damaging	0.50
IGL01085:Slc22a26	APN	19	7,767,464 (GRCm39)	missense	probably benign	0.02
IGL02502:Slc22a26	APN	19	7,768,125 (GRCm39)	critical splice donor site	probably null
IGL02658:Slc22a26	APN	19	7,765,613 (GRCm39)	missense	probably benign	0.25
IGL02936:Slc22a26	APN	19	7,768,470 (GRCm39)	missense	probably damaging	0.99
IGL03162:Slc22a26	APN	19	7,779,466 (GRCm39)	missense	probably benign	0.00
R0034:Slc22a26	UTSW	19	7,779,618 (GRCm39)	missense	probably benign	0.03
R0633:Slc22a26	UTSW	19	7,765,575 (GRCm39)	critical splice donor site	probably null
R0676:Slc22a26	UTSW	19	7,773,509 (GRCm39)	splice site	probably benign
R2156:Slc22a26	UTSW	19	7,779,480 (GRCm39)	missense	probably damaging	1.00
R4043:Slc22a26	UTSW	19	7,765,694 (GRCm39)	critical splice acceptor site	probably null
R4781:Slc22a26	UTSW	19	7,767,500 (GRCm39)	missense	probably benign	0.34
R4896:Slc22a26	UTSW	19	7,768,419 (GRCm39)	missense	probably benign	0.14
R4999:Slc22a26	UTSW	19	7,779,546 (GRCm39)	missense	probably damaging	1.00
R5125:Slc22a26	UTSW	19	7,767,540 (GRCm39)	missense	possibly damaging	0.62
R5178:Slc22a26	UTSW	19	7,767,540 (GRCm39)	missense	possibly damaging	0.62
R6161:Slc22a26	UTSW	19	7,763,812 (GRCm39)	missense	possibly damaging	0.50
R6494:Slc22a26	UTSW	19	7,779,651 (GRCm39)	missense	probably damaging	1.00
R6512:Slc22a26	UTSW	19	7,779,865 (GRCm39)	start gained	probably benign
R6724:Slc22a26	UTSW	19	7,779,726 (GRCm39)	missense	probably benign	0.14
R7323:Slc22a26	UTSW	19	7,768,259 (GRCm39)	missense	probably damaging	0.97
R7375:Slc22a26	UTSW	19	7,760,509 (GRCm39)	splice site	probably null
R7558:Slc22a26	UTSW	19	7,762,651 (GRCm39)	missense	possibly damaging	0.94
R7634:Slc22a26	UTSW	19	7,779,952 (GRCm39)	splice site	probably null
R8772:Slc22a26	UTSW	19	7,767,477 (GRCm39)	missense	probably benign	0.27
R8905:Slc22a26	UTSW	19	7,760,331 (GRCm39)	missense	probably damaging	0.97
R8937:Slc22a26	UTSW	19	7,768,390 (GRCm39)	splice site	probably benign
R9059:Slc22a26	UTSW	19	7,762,559 (GRCm39)	missense	probably benign	0.01
R9659:Slc22a26	UTSW	19	7,763,798 (GRCm39)	missense	probably benign	0.02
R9788:Slc22a26	UTSW	19	7,763,798 (GRCm39)	missense	probably benign	0.02

Posted On

2013-12-09