Mutagenetix > Incidental Mutation

Incidental Mutation 'R4056:Slc22a23'

314264

Institutional Source

Beutler Lab

Gene Symbol

Slc22a23

Ensembl Gene

ENSMUSG00000038267

Gene Name

solute carrier family 22, member 23

Synonyms

3110004L20Rik

MMRRC Submission

041617-MU

Accession Numbers

Essential gene?

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

Stock #

R4056 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34179158-34345182 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 34299004 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 181 (Y181*)

Gene Model

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

AlphaFold

Q3UHH2

Predicted Effect

probably null
Transcript: ENSMUST00000040336
AA Change: Y297*

SMART Domains

Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: Y297*

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

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

probably null
Transcript: ENSMUST00000148390
AA Change: Y181*

SMART Domains

Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: Y181*

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (39/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	T	A	11: 80,375,503		probably benign	Het
Abcf1	A	G	17: 35,959,915	I510T	possibly damaging	Het
Adamts18	T	A	8: 113,737,580	K749*	probably null	Het
Alms1	A	G	6: 85,587,803	E53G	unknown	Het
Bmper	A	G	9: 23,399,629	H453R	probably benign	Het
Btg1	T	A	10: 96,618,354	M1K	probably null	Het
Cntfr	A	G	4: 41,658,900	I277T	probably damaging	Het
Col6a4	C	A	9: 106,026,466	R1642I	probably damaging	Het
Ctnna3	T	C	10: 65,002,568	I808T	probably damaging	Het
Cyp1a1	T	A	9: 57,700,149	V20D	probably benign	Het
Dnah17	T	C	11: 118,070,538	T2554A	probably benign	Het
Fcgbp	A	T	7: 28,104,116	Q1715L	probably benign	Het
Gabarapl1	T	C	6: 129,538,630	F77S	probably damaging	Het
Gm1966	G	T	7: 106,604,009	D9E	possibly damaging	Het
Hpse2	T	C	19: 43,294,275	K180E	probably damaging	Het
Hs3st2	T	A	7: 121,500,702	L257Q	probably damaging	Het
Ighv1-18	T	C	12: 114,682,667	T106A	probably benign	Het
Ints2	A	C	11: 86,242,952	L424R	probably damaging	Het
Iqgap2	A	G	13: 95,750,033	V114A	probably damaging	Het
Kalrn	A	T	16: 34,314,209	I401N	probably damaging	Het
Maats1	A	G	16: 38,298,214	V741A	probably benign	Het
Mast2	T	A	4: 116,337,501		probably benign	Het
Myo18a	A	G	11: 77,812,013	E5G	possibly damaging	Het
Nav3	A	T	10: 109,880,533		probably null	Het
Net1	G	A	13: 3,884,949	T359I	probably damaging	Het
Pcsk9	T	A	4: 106,444,702	H616L	probably benign	Het
Plekha5	G	T	6: 140,589,232	V597L	possibly damaging	Het
Plekhg3	T	A	12: 76,565,247	I374N	probably damaging	Het
Pros1	A	T	16: 62,900,645	R188*	probably null	Het
Rhbg	C	T	3: 88,243,448	V434I	probably damaging	Het
Rims1	A	G	1: 22,292,939		probably benign	Het
Rxfp2	T	C	5: 150,051,633		probably null	Het
Sbf2	T	C	7: 110,441,466	I385V	probably damaging	Het
Spata31	T	A	13: 64,921,655	V539E	probably benign	Het
Trpv5	G	A	6: 41,659,705	R436C	probably damaging	Het
Vmn1r13	G	A	6: 57,209,985	C43Y	probably benign	Het
Wif1	G	A	10: 121,082,194	V156I	probably benign	Het
Zfyve16	T	C	13: 92,504,549	N1229S	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
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
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'- CCCAAGCTGGAAGTTTCTCTG -3'
(R):5'- ATAGAGTGCTCACTGGAGGC -3'

Sequencing Primer
(F):5'- CCAAGCTGGAAGTTTCTCTGTAATC -3'
(R):5'- GGGTCTCAGCTCTTACCATTG -3'

Posted On

2015-04-30