Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01762:Slc22a23'

153271

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: 0.160) question?

Stock #

IGL01762

Quality Score

Status

Chromosome

Chromosomal Location

34179158-34345182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34204001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 371 (F371I)

Ref Sequence

ENSEMBL: ENSMUSP00000042742 (fasta)

Gene Model

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

AlphaFold

Q3UHH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040336
AA Change: F371I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: F371I

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

probably benign
Transcript: ENSMUST00000145038

SMART Domains

Protein: ENSMUSP00000122376
Gene: ENSMUSG00000038267

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

Predicted Effect

unknown
Transcript: ENSMUST00000148390
AA Change: F255I

SMART Domains

Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: F255I

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	T	A	10: 43,174,851	L47*	probably null	Het
Abca13	A	T	11: 9,315,423	T3033S	probably benign	Het
Atp1a2	C	A	1: 172,284,913	V503L	possibly damaging	Het
BC030867	T	C	11: 102,255,596	C233R	probably benign	Het
Cacna1e	T	A	1: 154,471,373	D770V	possibly damaging	Het
Camkk1	A	G	11: 73,030,801		probably null	Het
Cd34	T	A	1: 194,939,033	M23K	probably benign	Het
Cndp1	T	A	18: 84,622,286	I265F	probably damaging	Het
Cux2	A	G	5: 121,873,145	I574T	probably damaging	Het
Fam129a	T	C	1: 151,636,491	V48A	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Galk1	A	G	11: 116,010,008	Y236H	probably damaging	Het
Gbp11	T	C	5: 105,327,607	I292V	probably benign	Het
Gprc5c	A	G	11: 114,864,024	I176V	probably benign	Het
Myh6	T	C	14: 54,962,081	K258E	probably benign	Het
Nlrp9c	T	A	7: 26,385,425	D243V	probably damaging	Het
Nobox	T	G	6: 43,303,993	K516Q	probably damaging	Het
Nudcd3	A	G	11: 6,150,560	S195P	probably damaging	Het
Pde10a	T	C	17: 8,942,918	I477T	possibly damaging	Het
Pgbd5	C	T	8: 124,370,610	A394T	probably damaging	Het
Piezo1	G	A	8: 122,487,929	R1553*	probably null	Het
Prkd1	T	C	12: 50,387,230	I577V	probably benign	Het
Prss34	T	C	17: 25,299,812	I256T	probably benign	Het
Ptprg	A	G	14: 12,037,386	T189A	probably benign	Het
Ptprr	C	T	10: 116,236,733	T200I	probably damaging	Het
Samd8	C	T	14: 21,780,100	P198L	probably damaging	Het
Sema3c	T	C	5: 17,694,851	L447P	possibly damaging	Het
Slc2a2	A	G	3: 28,717,472	R184G	probably damaging	Het
Slitrk6	T	A	14: 110,751,624	D217V	probably damaging	Het
Tlr2	A	G	3: 83,836,994	V594A	probably benign	Het
Vmn2r109	A	G	17: 20,554,392	F234L	probably benign	Het
Vmn2r12	A	C	5: 109,086,564	L594R	probably damaging	Het
Vmn2r124	A	G	17: 18,063,172	Q376R	possibly damaging	Het
Vmn2r7	T	C	3: 64,691,435	D567G	probably benign	Het

Other mutations in Slc22a23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Slc22a23	APN	13	34305245	missense	probably damaging	1.00
IGL02496:Slc22a23	APN	13	34344485	missense	possibly damaging	0.93
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
BB009:Slc22a23	UTSW	13	34182977	missense	probably damaging	0.99
BB019:Slc22a23	UTSW	13	34182977	missense	probably damaging	0.99
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
R7932:Slc22a23	UTSW	13	34182977	missense	probably damaging	0.99
R8058:Slc22a23	UTSW	13	34305184	nonsense	probably null
R9385:Slc22a23	UTSW	13	34344578	missense	probably benign	0.05
R9560:Slc22a23	UTSW	13	34197868	missense	possibly damaging	0.51
R9630:Slc22a23	UTSW	13	34195407	missense	possibly damaging	0.93
X0064:Slc22a23	UTSW	13	34344466	missense	probably damaging	1.00

Posted On

2014-02-04