Mutagenetix > Incidental Mutation

Incidental Mutation 'R0034:Slc22a26'

64611

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

038328-MU

Accession Numbers

Essential gene?

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

Stock #

R0034 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

7781041-7802667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7802253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 66 (I66T)

Ref Sequence

ENSEMBL: ENSMUSP00000113607 (fasta)

Gene Model

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

AlphaFold

Q91WJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000065634
AA Change: I66T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: I66T

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: I66T

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: I66T

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

0.0861

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	C	A	19: 7,420,359	H90Q	probably damaging	Het
4930402H24Rik	T	C	2: 130,736,572	H664R	probably damaging	Het
9430038I01Rik	C	T	7: 137,387,592	R60Q	probably benign	Het
Angpt4	C	T	2: 151,929,391	T209I	probably benign	Het
Ap3b1	T	C	13: 94,479,885		probably benign	Het
Aplp1	A	C	7: 30,444,442	V56G	probably damaging	Het
Asns	G	A	6: 7,676,299	P419L	probably damaging	Het
Atxn7	A	T	14: 14,100,846	H844L	probably damaging	Het
Cd14	A	G	18: 36,726,235	Y56H	probably benign	Het
Cd300lb	C	T	11: 114,928,399	V135I	probably damaging	Het
Cep152	C	T	2: 125,583,893	A851T	probably benign	Het
Cfap74	C	T	4: 155,460,887		probably benign	Het
Col28a1	T	A	6: 8,175,708	I47L	probably benign	Het
Eef1d	T	C	15: 75,902,959	T200A	probably benign	Het
Faap100	A	T	11: 120,372,147	M795K	probably benign	Het
Gabpb1	C	T	2: 126,658,534	R15Q	possibly damaging	Het
Gata4	C	A	14: 63,201,484	M381I	probably benign	Het
Gm5114	A	G	7: 39,408,858	S446P	possibly damaging	Het
Gm7271	A	G	5: 76,516,530	I155M	probably damaging	Het
Gnb1	T	A	4: 155,551,689	N155K	probably benign	Het
Haspin	G	A	11: 73,138,218	T15M	probably damaging	Het
Heatr5a	A	G	12: 51,925,172	L745P	probably damaging	Het
Kcng3	T	A	17: 83,588,383		probably benign	Het
Kif15	A	T	9: 122,999,285	N887I	possibly damaging	Het
Kif26a	T	C	12: 112,168,963		probably benign	Het
Kif9	G	A	9: 110,519,611	C738Y	probably benign	Het
Kifc2	G	T	15: 76,667,100	C613F	probably benign	Het
Klf12	A	G	14: 99,987,429		probably null	Het
Lrp1	A	T	10: 127,545,651	I3826N	probably benign	Het
Map2k4	A	G	11: 65,719,611		probably benign	Het
Myo7b	A	G	18: 31,960,860	S2006P	probably damaging	Het
Olfr631	T	C	7: 103,929,501	V226A	probably benign	Het
Pax4	T	C	6: 28,442,449	T285A	probably benign	Het
Pcdhb5	A	G	18: 37,322,084	N506D	probably damaging	Het
Pkhd1l1	G	A	15: 44,504,009	G768S	probably benign	Het
Plb1	G	T	5: 32,273,113	G138V	probably benign	Het
Poln	A	C	5: 34,115,418	V398G	possibly damaging	Het
Poteg	A	G	8: 27,462,077		probably benign	Het
Rapgef1	C	A	2: 29,724,768		probably benign	Het
Rbm43	A	T	2: 51,925,710	D166E	probably benign	Het
Rhobtb2	T	C	14: 69,788,688	T602A	probably benign	Het
Samd3	G	A	10: 26,271,500		probably benign	Het
Sbno2	A	C	10: 80,058,340		probably benign	Het
Sec1	A	G	7: 45,679,335	V96A	probably benign	Het
Senp7	A	C	16: 56,153,570	S385R	possibly damaging	Het
Sgk3	T	C	1: 9,885,677	V301A	probably damaging	Het
Sgpl1	A	T	10: 61,102,613	M467K	probably damaging	Het
Stra6	G	A	9: 58,151,469		probably null	Het
Tfrc	T	A	16: 32,615,396		probably null	Het
Tmem30b	T	C	12: 73,546,005	Y112C	probably damaging	Het
Trap1	A	T	16: 4,069,030		probably benign	Het
Trpc1	A	G	9: 95,749,761	S43P	probably damaging	Het
Tsku	T	C	7: 98,352,663	T154A	possibly damaging	Het
Uroc1	T	C	6: 90,345,310	V272A	probably damaging	Het
Vmn1r69	T	A	7: 10,580,811		probably benign	Het
Vmn2r1	T	A	3: 64,090,014	W364R	probably damaging	Het
Wnk2	G	T	13: 49,068,080	T377K	possibly damaging	Het
Zscan20	T	C	4: 128,585,662	N1012S	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
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

Predicted Primers

PCR Primer
(F):5'- TGGTGGAGAGAAAAGTCCTCTGGTC -3'
(R):5'- GGGTGGTTCACAAAGGTTCTCAGC -3'

Sequencing Primer
(F):5'- GAGAGAAAAGTCCTCTGGTCATACAC -3'
(R):5'- AAGATAGTGGTCCCTCCCTAGTG -3'

Posted On

2013-08-06