Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02496:Slc22a23'

295846

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc22a23

Ensembl Gene

ENSMUSG00000038267

Gene Name

solute carrier family 22, member 23

Synonyms

3110004L20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

34363141-34529165 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34528468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 105 (I105F)

Ref Sequence

ENSEMBL: ENSMUSP00000042742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040336]

AlphaFold

Q3UHH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040336
AA Change: I105F

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: I105F

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
low complexity region	153	164	N/A	INTRINSIC
Pfam:Sugar_tr	187	633	5e-26	PFAM
Pfam:MFS_1	224	518	2.6e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143353

Predicted Effect

unknown
Transcript: ENSMUST00000145038
AA Change: I37F

SMART Domains

Protein: ENSMUSP00000122376
Gene: ENSMUSG00000038267
AA Change: I37F

Domain	Start	End	E-Value	Type
low complexity region	86	97	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148390

SMART Domains

Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267

Domain	Start	End	E-Value	Type
low complexity region	38	49	N/A	INTRINSIC
Pfam:Sugar_tr	71	510	1.4e-27	PFAM
Pfam:MFS_1	109	402	1.5e-12	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC22A23 belongs to a large family of transmembrane proteins that function as uniporters, symporters, and antiporters to transport organic ions across cell membranes (Jacobsson et al., 2007 [PubMed 17714910]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	G	1: 71,327,712 (GRCm39)	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,324,578 (GRCm39)	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,078,512 (GRCm39)	R44Q	probably benign	Het
Amigo2	A	T	15: 97,143,494 (GRCm39)	C309*	probably null	Het
Ccdc88c	A	C	12: 100,919,552 (GRCm39)	S446A	probably benign	Het
Cd9	A	T	6: 125,449,458 (GRCm39)	V28E	probably damaging	Het
Cops2	A	T	2: 125,678,163 (GRCm39)		probably benign	Het
Csn1s1	C	T	5: 87,825,453 (GRCm39)		probably benign	Het
Cul9	G	T	17: 46,851,302 (GRCm39)	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,126,640 (GRCm39)	H1457N	probably damaging	Het
Dennd2b	C	A	7: 109,155,442 (GRCm39)	R436L	possibly damaging	Het
Dnah9	A	G	11: 65,920,189 (GRCm39)	S2235P	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883 (GRCm39)	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919 (GRCm38)		probably benign	Het
Flnc	G	T	6: 29,440,684 (GRCm39)	V301L	probably damaging	Het
Hfm1	T	C	5: 107,049,627 (GRCm39)	S445G	probably benign	Het
Hif3a	A	G	7: 16,773,603 (GRCm39)		probably benign	Het
Hsd17b4	T	C	18: 50,288,220 (GRCm39)	Y217H	probably damaging	Het
Iba57	T	C	11: 59,049,772 (GRCm39)	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,703,671 (GRCm39)	I78N	probably damaging	Het
Inhbe	A	T	10: 127,186,797 (GRCm39)	W128R	probably damaging	Het
Ism1	T	C	2: 139,599,121 (GRCm39)	C365R	probably damaging	Het
Kif19a	A	T	11: 114,670,470 (GRCm39)	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,755,439 (GRCm39)		probably benign	Het
Mmp20	A	G	9: 7,654,042 (GRCm39)	R321G	probably damaging	Het
Msl2	T	C	9: 100,977,854 (GRCm39)	M76T	possibly damaging	Het
Nme9	T	C	9: 99,351,684 (GRCm39)	C223R	probably damaging	Het
Nucb1	G	T	7: 45,144,467 (GRCm39)		probably benign	Het
Ocrl	G	A	X: 47,022,315 (GRCm39)	D262N	probably benign	Het
Or13a18	A	C	7: 140,190,081 (GRCm39)	M1L	probably benign	Het
Or5b98	T	A	19: 12,931,556 (GRCm39)	I201N	possibly damaging	Het
Or6b1	A	C	6: 42,815,738 (GRCm39)	I308L	probably benign	Het
P4ha1	A	G	10: 59,206,824 (GRCm39)		probably null	Het
Parp8	T	C	13: 116,998,838 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,468,507 (GRCm39)	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,303,535 (GRCm39)	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,489,147 (GRCm39)	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,171,716 (GRCm39)	I103V	probably benign	Het
Plscr3	C	A	11: 69,738,209 (GRCm39)		probably benign	Het
Pmaip1	A	G	18: 66,596,370 (GRCm39)	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,230,492 (GRCm39)	P370L	possibly damaging	Het
Prr36	C	A	8: 4,266,407 (GRCm39)	E48*	probably null	Het
Ptgir	G	A	7: 16,641,409 (GRCm39)	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,901,070 (GRCm39)	V219E	probably benign	Het
Rab39b	T	A	X: 74,618,609 (GRCm39)	I74F	probably damaging	Het
Rasal2	A	T	1: 156,977,449 (GRCm39)	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,750,885 (GRCm39)	A20T	probably null	Het
Serpinb10	A	C	1: 107,466,155 (GRCm39)		probably null	Het
Sipa1l1	T	A	12: 82,471,868 (GRCm39)	Y1283N	probably damaging	Het
Slc25a20	T	A	9: 108,559,599 (GRCm39)	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,659,247 (GRCm39)	H691L	probably damaging	Het
Smo	A	C	6: 29,758,480 (GRCm39)	T542P	probably damaging	Het
Spats2	T	A	15: 99,071,329 (GRCm39)	I51N	probably damaging	Het
Spon1	G	T	7: 113,635,897 (GRCm39)	V704L	probably benign	Het
Tex9	T	A	9: 72,389,774 (GRCm39)	Q112L	probably benign	Het
Tgfbr2	T	C	9: 115,919,486 (GRCm39)	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335 (GRCm38)	V141E	probably benign	Het
Trhde	A	T	10: 114,636,466 (GRCm39)	L247*	probably null	Het
Umodl1	G	T	17: 31,217,628 (GRCm39)	V1145F	probably damaging	Het
Vasp	C	A	7: 18,992,748 (GRCm39)		probably benign	Het
Vmn1r8	G	T	6: 57,013,556 (GRCm39)	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,787,837 (GRCm39)	T505A	probably benign	Het
Wdr27	A	G	17: 15,112,693 (GRCm39)		probably benign	Het
Wfdc1	T	G	8: 120,406,909 (GRCm39)	V109G	probably damaging	Het
Zan	C	A	5: 137,463,056 (GRCm39)	E708*	probably null	Het
Zbtb1	T	A	12: 76,432,169 (GRCm39)	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,648,117 (GRCm39)	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,757,113 (GRCm39)	S349P	probably damaging	Het
Znfx1	A	T	2: 166,889,550 (GRCm39)	C731S	possibly damaging	Het

Other mutations in Slc22a23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Slc22a23	APN	13	34,489,228 (GRCm39)	missense	probably damaging	1.00
IGL01762:Slc22a23	APN	13	34,387,984 (GRCm39)	missense	possibly damaging	0.71
IGL02516:Slc22a23	APN	13	34,387,938 (GRCm39)	missense	probably benign	0.02
IGL02831:Slc22a23	APN	13	34,483,052 (GRCm39)	missense	possibly damaging	0.81
Foreshadowed	UTSW	13	34,379,462 (GRCm39)	missense	probably damaging	0.98
foretold	UTSW	13	34,489,163 (GRCm39)	missense	probably benign	0.08
BB009:Slc22a23	UTSW	13	34,366,960 (GRCm39)	missense	probably damaging	0.99
BB019:Slc22a23	UTSW	13	34,366,960 (GRCm39)	missense	probably damaging	0.99
R0234:Slc22a23	UTSW	13	34,367,244 (GRCm39)	missense	probably damaging	1.00
R0234:Slc22a23	UTSW	13	34,367,244 (GRCm39)	missense	probably damaging	1.00
R0413:Slc22a23	UTSW	13	34,367,115 (GRCm39)	missense	probably damaging	1.00
R0557:Slc22a23	UTSW	13	34,528,366 (GRCm39)	missense	possibly damaging	0.50
R0558:Slc22a23	UTSW	13	34,528,366 (GRCm39)	missense	possibly damaging	0.50
R0636:Slc22a23	UTSW	13	34,483,076 (GRCm39)	missense	probably benign	0.01
R0676:Slc22a23	UTSW	13	34,379,462 (GRCm39)	missense	probably damaging	0.98
R0739:Slc22a23	UTSW	13	34,528,366 (GRCm39)	missense	possibly damaging	0.50
R0990:Slc22a23	UTSW	13	34,379,450 (GRCm39)	missense	probably damaging	1.00
R1515:Slc22a23	UTSW	13	34,387,947 (GRCm39)	missense	probably benign	0.33
R2128:Slc22a23	UTSW	13	34,387,953 (GRCm39)	missense	possibly damaging	0.76
R2147:Slc22a23	UTSW	13	34,366,990 (GRCm39)	missense	probably benign	0.00
R3113:Slc22a23	UTSW	13	34,367,058 (GRCm39)	missense	probably damaging	0.98
R3780:Slc22a23	UTSW	13	34,528,323 (GRCm39)	missense	probably benign	0.14
R3945:Slc22a23	UTSW	13	34,367,109 (GRCm39)	missense	probably damaging	0.98
R3946:Slc22a23	UTSW	13	34,367,109 (GRCm39)	missense	probably damaging	0.98
R4056:Slc22a23	UTSW	13	34,482,987 (GRCm39)	nonsense	probably null
R4095:Slc22a23	UTSW	13	34,489,189 (GRCm39)	missense	probably damaging	1.00
R4854:Slc22a23	UTSW	13	34,387,924 (GRCm39)	missense	probably benign
R5594:Slc22a23	UTSW	13	34,489,240 (GRCm39)	missense	probably damaging	0.99
R5611:Slc22a23	UTSW	13	34,489,222 (GRCm39)	missense	probably benign	0.00
R6167:Slc22a23	UTSW	13	34,528,542 (GRCm39)	missense	probably damaging	0.97
R6927:Slc22a23	UTSW	13	34,528,362 (GRCm39)	missense	probably benign	0.07
R6933:Slc22a23	UTSW	13	34,489,163 (GRCm39)	missense	probably benign	0.08
R6960:Slc22a23	UTSW	13	34,528,140 (GRCm39)	critical splice donor site	probably null
R7291:Slc22a23	UTSW	13	34,381,822 (GRCm39)	missense	probably damaging	0.99
R7313:Slc22a23	UTSW	13	34,367,161 (GRCm39)	missense	probably damaging	1.00
R7932:Slc22a23	UTSW	13	34,366,960 (GRCm39)	missense	probably damaging	0.99
R8058:Slc22a23	UTSW	13	34,489,167 (GRCm39)	nonsense	probably null
R9385:Slc22a23	UTSW	13	34,528,561 (GRCm39)	missense	probably benign	0.05
R9560:Slc22a23	UTSW	13	34,381,851 (GRCm39)	missense	possibly damaging	0.51
R9630:Slc22a23	UTSW	13	34,379,390 (GRCm39)	missense	possibly damaging	0.93
X0064:Slc22a23	UTSW	13	34,528,449 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16