Mutagenetix > Incidental Mutation

Incidental Mutation 'R0739:Slc22a23'

70638

Institutional Source

Beutler Lab

Gene Symbol

Slc22a23

Ensembl Gene

ENSMUSG00000038267

Gene Name

solute carrier family 22, member 23

Synonyms

3110004L20Rik

MMRRC Submission

038920-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R0739 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34179158-34345182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34344383 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 139 (G139S)

Ref Sequence

ENSEMBL: ENSMUSP00000042742 (fasta)

Gene Model

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

AlphaFold

Q3UHH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040336
AA Change: G139S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: G139S

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: G71S

SMART Domains

Protein: ENSMUSP00000122376
Gene: ENSMUSG00000038267
AA Change: G71S

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

Predicted Effect

unknown
Transcript: ENSMUST00000148390
AA Change: G23S

SMART Domains

Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: G23S

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 95.0%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,337,135	E327G	probably damaging	Het
Adcy6	T	C	15: 98,598,379	D593G	probably benign	Het
Ankmy1	T	C	1: 92,888,648	D248G	probably damaging	Het
Atp2a1	T	C	7: 126,448,256	I743V	possibly damaging	Het
Axdnd1	T	C	1: 156,380,886	N396D	possibly damaging	Het
Cacna1e	C	T	1: 154,442,278	A1391T	probably damaging	Het
Ccr8	G	A	9: 120,094,349	G177S	probably damaging	Het
Clmn	C	T	12: 104,781,017	G757D	possibly damaging	Het
Cntn2	T	A	1: 132,529,012	I99F	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,668	A271G	unknown	Het
Dnah1	A	T	14: 31,265,915	C3515*	probably null	Het
Eif2d	A	G	1: 131,154,363	Y64C	probably damaging	Het
Elovl4	A	G	9: 83,785,109	F65S	probably damaging	Het
F5	G	C	1: 164,198,917	R1686P	probably damaging	Het
Fbn1	T	C	2: 125,367,630	E938G	probably benign	Het
Foxn1	T	C	11: 78,358,999	T567A	probably benign	Het
Gabrr1	T	C	4: 33,162,781	M449T	probably benign	Het
Gdf2	C	T	14: 33,941,221	P24L	probably damaging	Het
Gm4778	A	G	3: 94,265,795	M37V	probably benign	Het
Itgb3bp	T	C	4: 99,802,196	I29V	probably benign	Het
Kcnk7	C	T	19: 5,704,802		probably null	Het
Klf11	T	C	12: 24,660,248	S432P	probably damaging	Het
Neo1	C	T	9: 58,921,877	A580T	probably benign	Het
Nexmif	G	T	X: 104,084,949	Q1121K	probably benign	Het
Olfr486	T	C	7: 108,172,010	T245A	probably benign	Het
Olfr561	T	C	7: 102,774,665	I47T	probably damaging	Het
Olfr611	T	C	7: 103,517,724	Y220C	probably damaging	Het
Osgepl1	G	T	1: 53,323,195	E399*	probably null	Het
Parvg	T	A	15: 84,331,021	V197E	probably damaging	Het
Pcyt2	A	G	11: 120,612,044	L257P	probably damaging	Het
Pou3f2	T	C	4: 22,486,960	D391G	possibly damaging	Het
Psmd2	C	T	16: 20,655,329	R261C	probably benign	Het
Ptpn13	T	C	5: 103,575,132	F1981L	probably benign	Het
Rbp3	A	T	14: 33,958,647	I1069F	probably benign	Het
Rhbdf2	A	T	11: 116,600,161	L655Q	probably damaging	Het
Sec16a	A	T	2: 26,441,051	N317K	possibly damaging	Het
Serpina3f	T	C	12: 104,218,353	V252A	probably damaging	Het
Smyd2	T	C	1: 189,888,862	T220A	possibly damaging	Het
Snrpb2	T	A	2: 143,065,361		probably benign	Het
Sptan1	A	T	2: 30,013,518	I1502F	probably damaging	Het
Srprb	A	T	9: 103,197,595	L116H	probably damaging	Het
Stradb	T	A	1: 58,977,015		probably benign	Het
Tm9sf4	C	A	2: 153,203,814	F535L	probably damaging	Het
Tmprss15	A	T	16: 79,024,848	S440T	possibly damaging	Het
Tpr	C	T	1: 150,407,497	A293V	possibly damaging	Het
Usp34	C	T	11: 23,467,243	T2964I	possibly damaging	Het
Usp35	C	A	7: 97,311,667	E851*	probably null	Het
Zc3h14	T	A	12: 98,757,201	V250D	probably damaging	Het
Zfp568	T	A	7: 30,023,321	C564S	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGATGAGACCAGTGCGGATGC -3'
(R):5'- AGCCTCCTGTTGCTGGACTACG -3'

Sequencing Primer
(F):5'- AGTGCGGATGCCGTAGTC -3'
(R):5'- TGCTGGACTACGATGGCTC -3'

Posted On

2013-09-30