Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02658:Slc22a26'

302452

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 #

IGL02658

Quality Score

Status

Chromosome

Chromosomal Location

7758406-7780032 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7765613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 345 (N345I)

Ref Sequence

ENSEMBL: ENSMUSP00000064809 (fasta)

Gene Model

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

AlphaFold

Q91WJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000065634
AA Change: N345I

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: N345I

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: N344I

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: N344I

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,843,386 (GRCm39)	Y946F	probably benign	Het
Abcb4	T	G	5: 8,984,240 (GRCm39)	W657G	probably benign	Het
Adcy1	T	C	11: 7,088,279 (GRCm39)		probably benign	Het
Arap3	A	G	18: 38,124,047 (GRCm39)	V351A	probably benign	Het
Bpifb9b	A	C	2: 154,153,201 (GRCm39)	Y89S	probably benign	Het
Carns1	C	T	19: 4,223,083 (GRCm39)	C47Y	probably benign	Het
Chd5	C	T	4: 152,445,050 (GRCm39)	H344Y	probably damaging	Het
Ctnna2	T	C	6: 76,957,807 (GRCm39)	T481A	probably benign	Het
Cyth1	T	A	11: 118,073,072 (GRCm39)	D264V	probably damaging	Het
Dph1	C	A	11: 75,071,461 (GRCm39)	L311F	probably benign	Het
Eif3l	A	G	15: 78,961,142 (GRCm39)	D65G	probably damaging	Het
Gtf2a1l	T	A	17: 88,976,146 (GRCm39)	F3Y	probably benign	Het
Hcn4	A	T	9: 58,766,748 (GRCm39)	T770S	unknown	Het
Hydin	A	T	8: 111,139,908 (GRCm39)	I726F	possibly damaging	Het
Klf2	A	G	8: 73,072,940 (GRCm39)	I7V	probably benign	Het
Ltn1	A	T	16: 87,212,662 (GRCm39)	L633H	probably damaging	Het
Ncoa3	A	G	2: 165,893,313 (GRCm39)	D206G	probably benign	Het
Nlrp4a	T	G	7: 26,149,138 (GRCm39)	D248E	probably benign	Het
Nyap1	A	G	5: 137,733,746 (GRCm39)	I429T	probably damaging	Het
Or1j10	T	A	2: 36,267,072 (GRCm39)	C95S	probably damaging	Het
Or2p2	G	A	13: 21,256,982 (GRCm39)	T163I	probably damaging	Het
Or2t6	T	A	14: 14,175,732 (GRCm38)	M117L	possibly damaging	Het
Or51g1	A	G	7: 102,633,537 (GRCm39)	M278T	probably benign	Het
Or8s16	A	G	15: 98,211,237 (GRCm39)	S65P	probably damaging	Het
Pcf11	T	C	7: 92,296,254 (GRCm39)	E1322G	probably damaging	Het
Plcxd2	A	T	16: 45,792,689 (GRCm39)	F217I	probably benign	Het
Plxna4	A	T	6: 32,162,346 (GRCm39)	I1389N	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,091 (GRCm39)	Y239C	probably benign	Het
Psma6	A	G	12: 55,458,996 (GRCm39)	E126G	probably benign	Het
R3hcc1l	T	A	19: 42,551,141 (GRCm39)	V46E	probably damaging	Het
Rap1gds1	G	T	3: 138,663,240 (GRCm39)	H320N	probably damaging	Het
Sdhaf3	A	G	6: 7,038,992 (GRCm39)	M105V	probably damaging	Het
Sncaip	T	C	18: 53,028,027 (GRCm39)	I412T	possibly damaging	Het
Sorcs1	A	T	19: 50,178,530 (GRCm39)	I864N	probably damaging	Het
Spag5	C	T	11: 78,212,157 (GRCm39)	Q1062*	probably null	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Szrd1	A	G	4: 140,867,057 (GRCm39)		probably benign	Het
Tns2	C	A	15: 102,016,231 (GRCm39)		probably benign	Het
Trcg1	C	A	9: 57,149,511 (GRCm39)	S361*	probably null	Het
Tshz3	T	C	7: 36,468,583 (GRCm39)	F191L	probably damaging	Het
Ttc39a	T	C	4: 109,280,090 (GRCm39)	V124A	probably damaging	Het
Ttf1	T	C	2: 28,964,023 (GRCm39)	I633T	probably damaging	Het
Zfp691	A	G	4: 119,027,704 (GRCm39)	F176S	probably damaging	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
IGL01581:Slc22a26	APN	19	7,779,549 (GRCm39)	missense	probably benign	0.15
IGL02502:Slc22a26	APN	19	7,768,125 (GRCm39)	critical splice donor site	probably null
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

2015-04-16