Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01085:Slc22a26'

53237

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: 0.060) question?

Stock #

IGL01085

Quality Score

Status

Chromosome

Chromosomal Location

7781041-7802667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7790099 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 314 (V314A)

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: V314A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: V314A

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: V313A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: V313A

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 60,037,342		probably benign	Het
Acp7	T	C	7: 28,611,053	Y453C	probably damaging	Het
Bop1	T	C	15: 76,453,376	D683G	probably damaging	Het
Cacna1b	G	T	2: 24,678,994	R974S	probably damaging	Het
Cenpt	T	C	8: 105,846,665	E350G	possibly damaging	Het
Cep112	G	T	11: 108,486,606	R270L	probably damaging	Het
Crem	T	C	18: 3,299,236	T26A	probably damaging	Het
Crot	T	C	5: 8,973,955	H387R	probably damaging	Het
Fdxr	A	T	11: 115,269,576	V351E	probably benign	Het
Fkbpl	T	C	17: 34,645,744	L162P	probably damaging	Het
Fmn2	T	A	1: 174,695,654	N1358K	probably damaging	Het
Gm5155	A	T	7: 17,915,691	H729L	possibly damaging	Het
Hectd4	G	T	5: 121,331,701	G2553V	probably damaging	Het
Ifna16	A	T	4: 88,676,732	I42K	probably benign	Het
Igfals	C	T	17: 24,881,660	T575I	probably benign	Het
Il6	G	T	5: 30,013,489	V28F	probably damaging	Het
Irx1	A	G	13: 71,959,697	S289P	probably benign	Het
Ncoa2	T	C	1: 13,149,079	T1245A	possibly damaging	Het
Nr3c2	G	T	8: 76,908,354	R28L	probably benign	Het
Nudt5	G	A	2: 5,864,427	V155I	probably benign	Het
Olfr12	G	T	1: 92,620,199	V98F	possibly damaging	Het
Pcm1	T	C	8: 41,309,603	S1395P	probably damaging	Het
Pkhd1l1	G	A	15: 44,562,752		probably null	Het
Prodh	A	T	16: 18,076,344	V339E	probably damaging	Het
Rbm48	C	T	5: 3,584,762	V401M	probably benign	Het
Retreg3	G	A	11: 101,100,925	Q61*	probably null	Het
Rif1	A	G	2: 52,085,140	M354V	possibly damaging	Het
Rrn3	G	A	16: 13,809,062	V507M	probably damaging	Het
Safb2	T	A	17: 56,565,242	R197*	probably null	Het
Slfnl1	G	T	4: 120,533,356	R68L	probably damaging	Het
Spata1	G	T	3: 146,476,242	Q10K	possibly damaging	Het
Swi5	T	C	2: 32,280,727	M95V	possibly damaging	Het
Thpo	T	C	16: 20,728,455	D52G	probably damaging	Het
Tmem101	A	T	11: 102,154,660	L121Q	probably damaging	Het
Trim40	T	C	17: 36,883,241	I187V	probably benign	Het
Usp33	A	G	3: 152,368,569	K351E	possibly damaging	Het
Uvrag	T	C	7: 99,118,224	T67A	probably damaging	Het
Vcan	T	C	13: 89,679,958	D2163G	probably damaging	Het
Wnt7a	C	T	6: 91,408,789	V61I	probably benign	Het
Zfp804b	A	G	5: 6,770,931	S675P	probably damaging	Het

Other mutations in Slc22a26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Slc22a26	APN	19	7782836	missense	probably damaging	0.99
IGL00338:Slc22a26	APN	19	7782975	missense	probably benign	0.25
IGL00736:Slc22a26	APN	19	7790162	missense	possibly damaging	0.50
IGL01581:Slc22a26	APN	19	7802184	missense	probably benign	0.15
IGL02502:Slc22a26	APN	19	7790760	critical splice donor site	probably null
IGL02658:Slc22a26	APN	19	7788248	missense	probably benign	0.25
IGL02936:Slc22a26	APN	19	7791105	missense	probably damaging	0.99
IGL03162:Slc22a26	APN	19	7802101	missense	probably benign	0.00
R0034:Slc22a26	UTSW	19	7802253	missense	probably benign	0.03
R0633:Slc22a26	UTSW	19	7788210	critical splice donor site	probably null
R0676:Slc22a26	UTSW	19	7796144	splice site	probably benign
R2156:Slc22a26	UTSW	19	7802115	missense	probably damaging	1.00
R4043:Slc22a26	UTSW	19	7788329	critical splice acceptor site	probably null
R4781:Slc22a26	UTSW	19	7790135	missense	probably benign	0.34
R4896:Slc22a26	UTSW	19	7791054	missense	probably benign	0.14
R4999:Slc22a26	UTSW	19	7802181	missense	probably damaging	1.00
R5125:Slc22a26	UTSW	19	7790175	missense	possibly damaging	0.62
R5178:Slc22a26	UTSW	19	7790175	missense	possibly damaging	0.62
R6161:Slc22a26	UTSW	19	7786447	missense	possibly damaging	0.50
R6494:Slc22a26	UTSW	19	7802286	missense	probably damaging	1.00
R6512:Slc22a26	UTSW	19	7802500	start gained	probably benign
R6724:Slc22a26	UTSW	19	7802361	missense	probably benign	0.14
R7323:Slc22a26	UTSW	19	7790894	missense	probably damaging	0.97
R7375:Slc22a26	UTSW	19	7783144	splice site	probably null
R7558:Slc22a26	UTSW	19	7785286	missense	possibly damaging	0.94
R7634:Slc22a26	UTSW	19	7802587	splice site	probably null
R8772:Slc22a26	UTSW	19	7790112	missense	probably benign	0.27
R8905:Slc22a26	UTSW	19	7782966	missense	probably damaging	0.97
R8937:Slc22a26	UTSW	19	7791025	splice site	probably benign
R9059:Slc22a26	UTSW	19	7785194	missense	probably benign	0.01
R9659:Slc22a26	UTSW	19	7786433	missense	probably benign	0.02
R9788:Slc22a26	UTSW	19	7786433	missense	probably benign	0.02

Posted On

2013-06-21