Mutagenetix > Incidental Mutation

Incidental Mutation 'R8905:Slc22a26'

680065

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 #

R8905 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7781041-7802667 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7782966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 471 (I471F)

Ref Sequence

ENSEMBL: ENSMUSP00000113607 (fasta)

Gene Model

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

AlphaFold

Q91WJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000065634
AA Change: I472F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064809
Gene: ENSMUSG00000053303
AA Change: I472F

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: I471F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113607
Gene: ENSMUSG00000053303
AA Change: I471F

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

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	C	4: 137,455,242	V236A	probably benign	Het
4931408C20Rik	A	G	1: 26,682,814	V1095A	probably damaging	Het
Abca15	A	T	7: 120,361,548	R744S	probably benign	Het
Adgra1	T	C	7: 139,875,847	S464P	probably damaging	Het
Arhgap45	T	C	10: 80,019,736	V3A	probably benign	Het
AW554918	T	A	18: 25,340,149	S134T	probably damaging	Het
Bmper	A	G	9: 23,406,786	E567G	probably benign	Het
C2cd3	T	C	7: 100,424,925		probably null	Het
Cars	A	G	7: 143,586,459	Y170H	probably damaging	Het
Ccdc173	A	G	2: 69,781,760	S175P	probably benign	Het
Celsr1	A	T	15: 85,904,068		probably benign	Het
Celsr3	C	T	9: 108,841,302	H2351Y	probably damaging	Het
Cyp2d11	T	C	15: 82,390,901	I282V	probably benign	Het
Dhfr	A	G	13: 92,357,959	T57A	probably damaging	Het
Dnah7b	A	C	1: 46,253,374	Q2973P	probably damaging	Het
Dnajc5b	T	C	3: 19,579,020	C136R	probably benign	Het
Efcab1	A	G	16: 14,920,411	I147V	possibly damaging	Het
Ercc3	T	G	18: 32,265,718	D683E	possibly damaging	Het
Faxc	A	G	4: 21,982,398	Y279C	probably damaging	Het
Fbxw7	T	C	3: 84,965,327	M191T	possibly damaging	Het
Fcgbp	T	A	7: 28,086,509	V457E	probably damaging	Het
Fip1l1	A	T	5: 74,595,963	T539S	probably damaging	Het
Gabra1	T	C	11: 42,147,225	T189A	possibly damaging	Het
Glg1	T	C	8: 111,158,036	D1118G	probably damaging	Het
Gli3	A	G	13: 15,726,531	D1501G	probably benign	Het
Gm4756	T	A	12: 72,619,657	D80V	probably damaging	Het
Hacd1	A	G	2: 14,044,950	I91T	possibly damaging	Het
Ift22	T	C	5: 136,912,891	V159A	probably benign	Het
Igkv1-110	T	A	6: 68,271,086	Y60N	probably damaging	Het
Inpp5d	A	G	1: 87,709,626	K502E	probably damaging	Het
Kcnt2	A	T	1: 140,507,729	Q478L	possibly damaging	Het
Mettl13	A	G	1: 162,537,278	F511L	probably damaging	Het
Mis18bp1	T	C	12: 65,133,627		probably null	Het
Mrps30	A	T	13: 118,386,943	S98T	probably benign	Het
Muc2	C	T	7: 141,693,400	A209V	probably benign	Het
Nfs1	A	T	2: 156,128,583	I270N	probably damaging	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Nsmaf	A	G	4: 6,424,951	S266P	probably benign	Het
Obscn	A	G	11: 59,069,958	S3176P	probably damaging	Het
Olfr1230	A	T	2: 89,296,457	L271Q	possibly damaging	Het
Olfr834	A	G	9: 18,988,198	D70G	possibly damaging	Het
P2ry12	T	A	3: 59,217,576	Y226F	probably damaging	Het
Pabpc2	C	A	18: 39,774,651	T323K	probably benign	Het
Pank2	A	G	2: 131,282,726	D71G	possibly damaging	Het
Patj	A	T	4: 98,497,175	H393L	probably damaging	Het
Pde8b	A	G	13: 95,046,485	V255A	probably damaging	Het
Plekhs1	T	C	19: 56,482,596	W374R	probably damaging	Het
Ppm1g	T	C	5: 31,204,093	D313G	probably damaging	Het
Rnf114	A	G	2: 167,511,214	N135S	probably benign	Het
Rnf43	T	G	11: 87,731,125	Y351D	probably damaging	Het
Robo1	A	T	16: 72,742,285	D90V	probably damaging	Het
Sbds	A	G	5: 130,248,284	V172A	possibly damaging	Het
Scamp5	T	A	9: 57,445,386	I167F	probably benign	Het
Sec14l5	A	G	16: 5,176,500	E386G	probably damaging	Het
Sfxn1	T	A	13: 54,092,414	V159E	probably damaging	Het
Sgsm1	C	T	5: 113,273,629	G531R	probably benign	Het
Slc41a3	T	A	6: 90,612,141	M78K	probably benign	Het
Slc8a1	A	T	17: 81,441,655	Y653N	probably benign	Het
Slco6c1	A	T	1: 97,125,666	M170K	possibly damaging	Het
Smarca5	A	T	8: 80,713,948	I629K	probably benign	Het
Smg7	T	A	1: 152,840,066	D1099V	probably damaging	Het
Srbd1	T	C	17: 86,001,462	I763V	probably benign	Het
Stk25	A	G	1: 93,629,207	S30P	probably damaging	Het
Sv2b	C	T	7: 75,117,711	A646T	probably benign	Het
Tardbp	T	C	4: 148,620,636	M167V	probably benign	Het
Tmem132a	T	C	19: 10,865,283	N276S	probably damaging	Het
Ttpa	T	A	4: 20,028,435	S162T	probably benign	Het
Usp13	T	C	3: 32,881,423	Y333H	probably damaging	Het
Vmn2r3	T	A	3: 64,259,274	Y812F	probably damaging	Het
Yeats2	A	G	16: 20,190,394	T463A	probably benign	Het
Zbtb26	T	A	2: 37,436,915	K36N	probably benign	Het
Zfc3h1	A	T	10: 115,423,478	T1652S	probably benign	Het
Zfp472	G	A	17: 32,978,481	C510Y	possibly damaging	Het
Zfp518a	C	A	19: 40,914,336	T903K	probably damaging	Het
Zfp668	T	C	7: 127,866,426	T529A	probably benign	Het
Zfp930	A	G	8: 69,228,699	T349A	possibly damaging	Het
Zmiz2	T	G	11: 6,396,840	Y182D	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
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'- TACCTCTAAGGGGACAGTGG -3'
(R):5'- TCTAATGGATGCTGACAGATGTGAG -3'

Sequencing Primer
(F):5'- GGACAGTGGAGATTTTACTCACCC -3'
(R):5'- GCAATGCCATGAGTTCATG -3'

Posted On

2021-08-31