Mutagenetix > Incidental Mutation

Incidental Mutation 'R2156:Slc22a26'

234874

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

040159-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R2156 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7781041-7802667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7802115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 112 (D112G)

Ref Sequence

ENSEMBL: ENSMUSP00000064809 (fasta)

Gene Model

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

AlphaFold

Q91WJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000065634
AA Change: D112G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: D112G

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 damaging
Transcript: ENSMUST00000120522
AA Change: D112G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: D112G

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,422,308		probably null	Het
Acaa2	T	C	18: 74,793,405		probably null	Het
Adam7	T	C	14: 68,511,343	Q485R	probably benign	Het
Adcy4	T	G	14: 55,769,170	T1069P	probably benign	Het
Arsj	T	C	3: 126,438,688	L361P	probably damaging	Het
Birc2	A	C	9: 7,826,938	L349R	probably damaging	Het
C1qa	T	C	4: 136,896,416	Y159C	probably damaging	Het
Cdh13	A	G	8: 119,236,964	K428E	probably damaging	Het
Cenpe	T	C	3: 135,247,474	M1563T	probably benign	Het
Col10a1	T	C	10: 34,395,700	V556A	probably benign	Het
Creg2	G	A	1: 39,623,170	L265F	probably damaging	Het
Cyp1a2	T	A	9: 57,682,150	D127V	probably damaging	Het
Cyp3a44	A	T	5: 145,803,670	Y53*	probably null	Het
Cyth1	C	T	11: 118,182,808	R233Q	probably damaging	Het
Dnmbp	G	A	19: 43,901,907	H474Y	possibly damaging	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Ercc2	G	A	7: 19,386,792	R206H	possibly damaging	Het
Evx2	T	A	2: 74,656,016	H343L	probably damaging	Het
Fcrls	T	A	3: 87,257,341	I293F	probably benign	Het
Gcnt4	A	G	13: 96,946,466	E90G	probably damaging	Het
Gid8	T	G	2: 180,716,958	C139G	probably benign	Het
Gm11938	C	A	11: 99,603,107	C54F	probably damaging	Het
Gm3336	G	A	8: 70,721,860	V158I	probably benign	Het
Gm5415	T	A	1: 32,546,047	M261L	probably benign	Het
Gucy1b1	T	C	3: 82,061,020	N60D	probably benign	Het
Hdac7	T	C	15: 97,794,063	K810E	probably benign	Het
Hsp90ab1	A	G	17: 45,569,703	F361L	possibly damaging	Het
Igf2bp3	A	T	6: 49,108,924		probably null	Het
Inpp4b	T	A	8: 82,048,489	I772N	probably damaging	Het
Iqca	A	G	1: 90,089,516	L390P	possibly damaging	Het
Itgb2	C	T	10: 77,560,248	R586W	probably benign	Het
Itih1	A	G	14: 30,933,475	S588P	possibly damaging	Het
Iyd	T	A	10: 3,547,166		probably null	Het
Kl	A	G	5: 150,988,960	K725E	probably benign	Het
Layn	T	A	9: 51,057,397	M349L	probably benign	Het
Map3k5	T	C	10: 20,024,937	Y286H	probably damaging	Het
Med4	C	T	14: 73,518,032		probably benign	Het
Mfn1	T	A	3: 32,534,251	N42K	possibly damaging	Het
Mindy2	T	C	9: 70,656,592	D152G	probably benign	Het
Mrc2	A	G	11: 105,347,856		probably null	Het
Mrpl11	C	A	19: 4,962,469	A26E	probably damaging	Het
Msh6	G	A	17: 87,986,140	W774*	probably null	Het
Mtch1	A	T	17: 29,342,867	V121E	probably damaging	Het
Mtg2	G	T	2: 180,084,130	E178*	probably null	Het
Nbas	A	T	12: 13,441,509	N1461Y	probably damaging	Het
Ndfip2	A	G	14: 105,287,770	T65A	probably benign	Het
Ninl	G	T	2: 150,944,583	Q1146K	probably damaging	Het
Notch1	T	C	2: 26,460,861	D2089G	possibly damaging	Het
Notch3	C	T	17: 32,147,844	V906M	probably damaging	Het
Olfr606	A	G	7: 103,452,164	I276V	probably benign	Het
Olfr711	A	G	7: 106,971,568	Y259H	probably damaging	Het
Osmr	A	T	15: 6,844,410	Y169N	probably benign	Het
Ovgp1	T	C	3: 105,977,717	V124A	possibly damaging	Het
P2rx1	T	C	11: 73,014,113	M369T	probably benign	Het
Pde4dip	T	C	3: 97,724,218	Q1125R	probably damaging	Het
Podn	A	T	4: 108,021,695	V180E	probably damaging	Het
Pold1	A	T	7: 44,539,118	V475E	probably damaging	Het
Polg	A	G	7: 79,461,720	I261T	possibly damaging	Het
Satb1	G	T	17: 51,740,410	Q595K	probably benign	Het
Scaf8	T	A	17: 3,164,132		probably null	Het
Serpinb3a	C	T	1: 107,047,472		probably null	Het
Slc25a23	A	G	17: 57,045,562	F441L	probably benign	Het
Slc25a53	T	C	X: 136,983,467	T42A	probably damaging	Het
Slc6a15	T	C	10: 103,393,408	Y103H	probably damaging	Het
Slx4	A	G	16: 3,986,359	S864P	probably benign	Het
Snap91	T	C	9: 86,825,077	E220G	probably damaging	Het
Spam1	T	C	6: 24,796,268	F73L	probably damaging	Het
Sphkap	C	T	1: 83,277,989	V393M	probably benign	Het
Spred2	T	C	11: 20,021,241	Y370H	probably damaging	Het
Sqle	T	C	15: 59,323,729		probably null	Het
Srrm2	A	G	17: 23,818,263	T1390A	probably benign	Het
Tas1r2	A	G	4: 139,669,041	R564G	possibly damaging	Het
Tbl2	G	T	5: 135,156,520		probably null	Het
Tcof1	T	C	18: 60,831,829	D606G	possibly damaging	Het
Tdpoz3	T	A	3: 93,826,780	L254H	probably damaging	Het
Trpm1	A	T	7: 64,234,988	I806F	probably damaging	Het
Ttc22	A	G	4: 106,639,040	D429G	probably benign	Het
Ube2o	C	A	11: 116,581,146	G90C	probably damaging	Het
Usp34	T	A	11: 23,382,602	F1110I	probably damaging	Het
Vmn2r82	T	C	10: 79,378,888	L235P	probably damaging	Het
Vps35	A	G	8: 85,286,500	V116A	probably benign	Het
Wdfy3	A	G	5: 101,898,425		probably null	Het
Zeb2	T	C	2: 44,988,809	K1138E	probably benign	Het
Zfp513	G	A	5: 31,200,522	T169I	probably benign	Het
Zfp629	T	C	7: 127,612,379	D86G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CTGTGATTTAATCTGAGGTCATCTC -3'
(R):5'- GCTGGGTTCACATTATTGACAATGAC -3'

Sequencing Primer
(F):5'- GGTCATCTCTTGAATGAAATAACTGG -3'
(R):5'- CACCAACTCTAATAATAACAGTGGG -3'

Posted On

2014-10-01