Mutagenetix > Incidental Mutation

Incidental Mutation 'R9059:Slc22a26'

688896

Institutional Source

Beutler Lab

Gene Symbol

Slc22a26

Ensembl Gene

ENSMUSG00000053303

Gene Name

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

Synonyms

BC014805

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7781041-7802667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7785194 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 460 (M460I)

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: M460I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: M460I

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: M459I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: M459I

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	A	T	12: 24,074,731	D48E	probably benign	Het
Ablim2	A	G	5: 35,802,506	T101A	probably damaging	Het
Acot8	A	G	2: 164,792,909	S316P	probably benign	Het
Acta2	G	T	19: 34,241,755	A349D	possibly damaging	Het
Adgrv1	C	A	13: 81,414,573		probably null	Het
Ankrd55	A	G	13: 112,318,539	D57G	probably damaging	Het
Azin2	A	G	4: 128,934,647	Y351H	probably benign	Het
Ccdc142	T	C	6: 83,102,419	C246R	probably damaging	Het
Col25a1	C	A	3: 130,474,850	Q179K	unknown	Het
Ddx46	C	T	13: 55,652,108	A277V	probably benign	Het
Diaph1	T	A	18: 37,889,745	N792I	possibly damaging	Het
Dnah11	G	A	12: 118,130,843	P830L	probably benign	Het
Dnah3	C	G	7: 120,085,145	R252S	probably benign	Het
Dnah5	A	G	15: 28,245,666	D550G	probably benign	Het
Dph3	T	C	14: 32,085,427	N31D	probably benign	Het
Dsg1c	A	T	18: 20,275,249	T452S	probably damaging	Het
Dsg4	T	A	18: 20,471,125	M883K	possibly damaging	Het
Epn1	T	G	7: 5,095,068	S293A	probably benign	Het
Fggy	T	A	4: 95,800,604	Y318*	probably null	Het
Gm11639	T	C	11: 104,751,863	V1104A	possibly damaging	Het
Hip1	A	G	5: 135,428,743	L703P	probably benign	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Igf2r	GCAGCCCTCCATAGGCGCCAGCCCTCCATAGGCGC	GCAGCCCTCCATAGGCGC	17: 12,751,293		probably null	Het
Klk15	C	T	7: 43,938,366	H73Y	possibly damaging	Het
Larp4	A	G	15: 99,991,812	E204G	probably benign	Het
Lbr	A	G	1: 181,817,554	I511T		Het
Lingo3	G	T	10: 80,834,689	T469K	probably benign	Het
Lrrc30	A	T	17: 67,631,803	W261R	probably damaging	Het
Man2b1	T	C	8: 85,091,526	V442A	probably damaging	Het
Mroh3	T	A	1: 136,181,795	R891S	probably benign	Het
Mtcl1	T	A	17: 66,343,611	M1620L	probably benign	Het
Myo18a	T	C	11: 77,778,073	V253A	possibly damaging	Het
Olfr1453	A	T	19: 13,027,913	C139S	probably damaging	Het
Pcdhb22	A	T	18: 37,519,669	N140Y	probably damaging	Het
Ppp1r9b	T	C	11: 94,992,428	V294A	probably benign	Het
Ptk7	A	T	17: 46,566,191	D980E	probably damaging	Het
Rdh11	T	A	12: 79,191,939		probably benign	Het
Sec23ip	T	G	7: 128,764,081	L558R	probably damaging	Het
Smc1b	G	A	15: 85,120,674	Q400*	probably null	Het
Spg11	T	C	2: 122,088,307	E947G	probably damaging	Het
Stab1	T	C	14: 31,154,848	I840V	probably benign	Het
Tlk1	T	C	2: 70,786,933	T68A	possibly damaging	Het
Traip	A	G	9: 107,963,350	I273V	probably benign	Het
Trim30c	T	G	7: 104,382,065	*514C	probably null	Het
U2surp	A	G	9: 95,481,663	Y615H	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
IGL01085:Slc22a26	APN	19	7790099	missense	probably benign	0.02
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
R9659:Slc22a26	UTSW	19	7786433	missense	probably benign	0.02
R9788:Slc22a26	UTSW	19	7786433	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GTACTTAAGTTTTGGGTGATTCCAA -3'
(R):5'- TGGCTCACAAGTATTGATCCCC -3'

Sequencing Primer
(F):5'- GGCTCACAGCTCGAAATA -3'
(R):5'- ACCAAGTAAGTTTACCTCTGTGCGG -3'

Posted On

2021-11-19