Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

IGL02496

Quality Score

Status

Chromosome

Chromosomal Location

34179158-34345182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34344485 bp

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]

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: 71,288,553	H1456P	possibly damaging	Het
Abcg1	C	A	17: 31,105,604	H274Q	probably damaging	Het
Adamts4	G	A	1: 171,250,943	R44Q	probably benign	Het
Amigo2	A	T	15: 97,245,613	C309*	probably null	Het
Ccdc88c	A	C	12: 100,953,293	S446A	probably benign	Het
Cd9	A	T	6: 125,472,495	V28E	probably damaging	Het
Cops2	A	T	2: 125,836,243		probably benign	Het
Csn1s1	C	T	5: 87,677,594		probably benign	Het
Cul9	G	T	17: 46,540,376	R373S	possibly damaging	Het
D630045J12Rik	G	T	6: 38,149,705	H1457N	probably damaging	Het
Dnah9	A	G	11: 66,029,363	S2235P	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fbxo10	A	T	4: 45,043,883	W647R	probably damaging	Het
Flnb	T	A	14: 7,930,919		probably benign	Het
Flnc	G	T	6: 29,440,685	V301L	probably damaging	Het
Hfm1	T	C	5: 106,901,761	S445G	probably benign	Het
Hif3a	A	G	7: 17,039,678		probably benign	Het
Hsd17b4	T	C	18: 50,155,153	Y217H	probably damaging	Het
Iba57	T	C	11: 59,158,946	T192A	probably benign	Het
Igkv5-48	A	T	6: 69,726,687	I78N	probably damaging	Het
Inhbe	A	T	10: 127,350,928	W128R	probably damaging	Het
Ism1	T	C	2: 139,757,201	C365R	probably damaging	Het
Kif19a	A	T	11: 114,779,644	T127S	probably damaging	Het
Kmt2d	C	A	15: 98,857,558		probably benign	Het
Mmp20	A	G	9: 7,654,041	R321G	probably damaging	Het
Msl2	T	C	9: 101,100,655	M76T	possibly damaging	Het
Nme9	T	C	9: 99,469,631	C223R	probably damaging	Het
Nucb1	G	T	7: 45,495,043		probably benign	Het
Ocrl	G	A	X: 47,933,438	D262N	probably benign	Het
Olfr1450	T	A	19: 12,954,192	I201N	possibly damaging	Het
Olfr449	A	C	6: 42,838,804	I308L	probably benign	Het
Olfr46	A	C	7: 140,610,168	M1L	probably benign	Het
P4ha1	A	G	10: 59,371,002		probably null	Het
Parp8	T	C	13: 116,862,302		probably benign	Het
Pcdhb6	A	G	18: 37,335,454	D476G	probably damaging	Het
Pikfyve	A	G	1: 65,264,376	E1685G	possibly damaging	Het
Plod2	T	A	9: 92,607,094	L714Q	probably damaging	Het
Plscr2	A	G	9: 92,289,663	I103V	probably benign	Het
Plscr3	C	A	11: 69,847,383		probably benign	Het
Pmaip1	A	G	18: 66,463,299	R80G	probably damaging	Het
Ppm1d	C	T	11: 85,339,666	P370L	possibly damaging	Het
Prr36	C	A	8: 4,216,407	E48*	probably null	Het
Ptgir	G	A	7: 16,907,484	V234I	possibly damaging	Het
Ptk7	A	T	17: 46,590,144	V219E	probably benign	Het
Rab39b	T	A	X: 75,575,003	I74F	probably damaging	Het
Rasal2	A	T	1: 157,149,879	M1075K	possibly damaging	Het
Rpl37a	G	A	1: 72,711,726	A20T	probably null	Het
Serpinb10	A	C	1: 107,538,425		probably null	Het
Sipa1l1	T	A	12: 82,425,094	Y1283N	probably damaging	Het
Slc25a20	T	A	9: 108,682,400	I221N	probably damaging	Het
Smarcal1	A	T	1: 72,620,088	H691L	probably damaging	Het
Smo	A	C	6: 29,758,481	T542P	probably damaging	Het
Spats2	T	A	15: 99,173,448	I51N	probably damaging	Het
Spon1	G	T	7: 114,036,662	V704L	probably benign	Het
St5	C	A	7: 109,556,235	R436L	possibly damaging	Het
Tex9	T	A	9: 72,482,492	Q112L	probably benign	Het
Tgfbr2	T	C	9: 116,090,418	E580G	probably benign	Het
Top2b	T	A	14: 16,387,335	V141E	probably benign	Het
Trhde	A	T	10: 114,800,561	L247*	probably null	Het
Umodl1	G	T	17: 30,998,654	V1145F	probably damaging	Het
Vasp	C	A	7: 19,258,823		probably benign	Het
Vmn1r8	G	T	6: 57,036,571	L202F	probably damaging	Het
Vmn2r111	T	C	17: 22,568,856	T505A	probably benign	Het
Wdr27	A	G	17: 14,892,431		probably benign	Het
Wfdc1	T	G	8: 119,680,170	V109G	probably damaging	Het
Zan	C	A	5: 137,464,794	E708*	probably null	Het
Zbtb1	T	A	12: 76,385,395	F52I	possibly damaging	Het
Zfp236	A	G	18: 82,629,992	S1015P	probably damaging	Het
Zfp532	T	C	18: 65,624,042	S349P	probably damaging	Het
Znfx1	A	T	2: 167,047,630	C731S	possibly damaging	Het

Other mutations in Slc22a23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Slc22a23	APN	13	34305245	missense	probably damaging	1.00
IGL01762:Slc22a23	APN	13	34204001	missense	possibly damaging	0.71
IGL02516:Slc22a23	APN	13	34203955	missense	probably benign	0.02
IGL02831:Slc22a23	APN	13	34299069	missense	possibly damaging	0.81
Foreshadowed	UTSW	13	34195479	missense	probably damaging	0.98
foretold	UTSW	13	34305180	missense	probably benign	0.08
R0234:Slc22a23	UTSW	13	34183261	missense	probably damaging	1.00
R0234:Slc22a23	UTSW	13	34183261	missense	probably damaging	1.00
R0413:Slc22a23	UTSW	13	34183132	missense	probably damaging	1.00
R0557:Slc22a23	UTSW	13	34344383	missense	possibly damaging	0.50
R0558:Slc22a23	UTSW	13	34344383	missense	possibly damaging	0.50
R0636:Slc22a23	UTSW	13	34299093	missense	probably benign	0.01
R0676:Slc22a23	UTSW	13	34195479	missense	probably damaging	0.98
R0739:Slc22a23	UTSW	13	34344383	missense	possibly damaging	0.50
R0990:Slc22a23	UTSW	13	34195467	missense	probably damaging	1.00
R1515:Slc22a23	UTSW	13	34203964	missense	probably benign	0.33
R2128:Slc22a23	UTSW	13	34203970	missense	possibly damaging	0.76
R2147:Slc22a23	UTSW	13	34183007	missense	probably benign	0.00
R3113:Slc22a23	UTSW	13	34183075	missense	probably damaging	0.98
R3780:Slc22a23	UTSW	13	34344340	missense	probably benign	0.14
R3945:Slc22a23	UTSW	13	34183126	missense	probably damaging	0.98
R3946:Slc22a23	UTSW	13	34183126	missense	probably damaging	0.98
R4056:Slc22a23	UTSW	13	34299004	nonsense	probably null
R4095:Slc22a23	UTSW	13	34305206	missense	probably damaging	1.00
R4854:Slc22a23	UTSW	13	34203941	missense	probably benign
R5594:Slc22a23	UTSW	13	34305257	missense	probably damaging	0.99
R5611:Slc22a23	UTSW	13	34305239	missense	probably benign	0.00
R6167:Slc22a23	UTSW	13	34344559	missense	probably damaging	0.97
R6927:Slc22a23	UTSW	13	34344379	missense	probably benign	0.07
R6933:Slc22a23	UTSW	13	34305180	missense	probably benign	0.08
R6960:Slc22a23	UTSW	13	34344157	critical splice donor site	probably null
R7291:Slc22a23	UTSW	13	34197839	missense	probably damaging	0.99
R7313:Slc22a23	UTSW	13	34183178	missense	probably damaging	1.00
X0064:Slc22a23	UTSW	13	34344466	missense	probably damaging	1.00

Posted On

2015-04-16