Mutagenetix > Incidental Mutation

Incidental Mutation 'R5125:Slc22a26'

393524

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

042713-MU

Accession Numbers

Essential gene?

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

Stock #

R5125 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7781041-7802667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7790175 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 289 (T289A)

Ref Sequence

ENSEMBL: ENSMUSP00000064809 (fasta)

Gene Model

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

AlphaFold

Q91WJ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065634
AA Change: T289A

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: T289A

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: T288A

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: T288A

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

Meta Mutation Damage Score

0.1709

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

96% (49/51)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abt1	G	T	13: 23,422,649	A94E	possibly damaging	Het
Carmil2	G	T	8: 105,696,889	G1207V	probably damaging	Het
Cyp2c66	A	G	19: 39,171,029	Y308C	probably damaging	Het
Dcc	A	G	18: 71,456,877	F683L	probably benign	Het
Denr	A	T	5: 123,927,081	I166F	probably damaging	Het
Dhx29	T	G	13: 112,932,600	S155A	possibly damaging	Het
Dsg1b	G	A	18: 20,397,503	G405E	probably damaging	Het
Ei24	T	A	9: 36,782,446		probably benign	Het
Exo5	A	T	4: 120,921,537		probably null	Het
Gm15922	T	A	7: 3,739,397	K44*	probably null	Het
Gm7356	T	C	17: 14,001,314	D151G	probably damaging	Het
Grin1	T	C	2: 25,296,827		probably benign	Het
Grin2b	C	T	6: 135,923,299	V195M	possibly damaging	Het
Hephl1	T	A	9: 15,086,172	K399N	probably damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kmt2c	A	G	5: 25,284,381	V4520A	probably damaging	Het
Lair1	G	A	7: 4,010,489	T82I	possibly damaging	Het
Lmx1a	C	T	1: 167,830,687	S213L	possibly damaging	Het
Ly6g6d	A	G	17: 35,074,442	I8T	possibly damaging	Het
Mcm4	T	A	16: 15,635,303	D174V	probably benign	Het
Mcph1	T	A	8: 18,607,326	D60E	probably damaging	Het
Med12l	G	A	3: 59,267,214	G1851D	possibly damaging	Het
Olfr156	T	A	4: 43,820,480	I294F	probably benign	Het
Olfr868	T	A	9: 20,101,192	C144*	probably null	Het
P2rx2	G	A	5: 110,342,651	T66I	possibly damaging	Het
Pcdh15	A	G	10: 74,584,080	E1197G	probably damaging	Het
Ppwd1	A	T	13: 104,220,435	S191T	probably benign	Het
Rbm39	A	T	2: 156,162,865	M184K	probably damaging	Het
Reln	A	G	5: 21,913,241	V2935A	possibly damaging	Het
Robo4	T	C	9: 37,407,960	W535R	probably damaging	Het
Rsf1	A	G	7: 97,661,872	D603G	possibly damaging	Het
Sh3rf3	C	G	10: 59,131,190	P785A	probably benign	Het
Slc24a3	T	C	2: 145,518,847	V120A	possibly damaging	Het
Sost	C	T	11: 101,963,941	G181R	probably damaging	Het
Sp2	A	G	11: 96,955,838	F554L	probably benign	Het
Stim2	T	C	5: 54,110,597	S87P	probably damaging	Het
Tcrg-C4	A	G	13: 19,344,762		probably benign	Het
Tecta	T	C	9: 42,375,185	D725G	probably damaging	Het
Ube4b	T	C	4: 149,342,992	M900V	probably damaging	Het
Ugt2b38	A	G	5: 87,411,812	M407T	probably damaging	Het
Vmn1r87	G	T	7: 13,131,865	A165E	possibly damaging	Het
Zc3h6	A	G	2: 129,014,479	H493R	possibly damaging	Het
Zfhx2	A	T	14: 55,074,775	F154Y	probably benign	Het
Zfp729a	A	G	13: 67,637,645		probably null	Het
Zfp976	A	G	7: 42,612,501		probably null	Het
Zhx1	C	G	15: 58,054,074	G259R	probably damaging	Het
Znfx1	A	T	2: 167,046,939	V783E	possibly 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
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'- TTTCATCTTGGGCACTAACTCG -3'
(R):5'- GTGGTTCCCAGTCTGCATTC -3'

Sequencing Primer
(F):5'- TTGGGCACTAACTCGTAAGC -3'
(R):5'- CCAGAGATTCATATACATTGCATTGC -3'

Posted On

2016-06-15