Mutagenetix > Incidental Mutation

Incidental Mutation 'R0413:Slc22a23'

36824

Institutional Source

Beutler Lab

Gene Symbol

Slc22a23

Ensembl Gene

ENSMUSG00000038267

Gene Name

solute carrier family 22, member 23

Synonyms

3110004L20Rik

MMRRC Submission

038615-MU

Accession Numbers

Essential gene?

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

Stock #

R0413 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34179158-34345182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34183132 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 631 (E631G)

Ref Sequence

ENSEMBL: ENSMUSP00000042742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040336] [ENSMUST00000124996] [ENSMUST00000147632]

AlphaFold

Q3UHH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000040336
AA Change: E631G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: E631G

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: ENSMUST00000124996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128392

Predicted Effect

probably benign
Transcript: ENSMUST00000147632

Predicted Effect

unknown
Transcript: ENSMUST00000148390
AA Change: E507G

SMART Domains

Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: E507G

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

0.6509

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

99% (99/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,328,011		probably benign	Het
Adh1	C	T	3: 138,280,432	T60I	probably benign	Het
Agtpbp1	T	A	13: 59,514,152	I282F	probably damaging	Het
AI464131	G	T	4: 41,498,585	H348Q	probably benign	Het
Arih2	G	T	9: 108,616,717	Q166K	probably damaging	Het
BC027072	T	G	17: 71,752,217	D155A	probably benign	Het
Cacna1s	A	G	1: 136,098,209	T1031A	probably benign	Het
Ccdc102a	C	A	8: 94,903,286	E542D	probably benign	Het
Cdk1	T	C	10: 69,345,099	I94V	probably benign	Het
Cep290	C	T	10: 100,523,314	Q969*	probably null	Het
Cilp2	A	G	8: 69,882,993	S452P	probably benign	Het
Col12a1	T	C	9: 79,699,360	T594A	probably damaging	Het
Cpox	A	G	16: 58,670,869	T148A	possibly damaging	Het
Csf3r	A	G	4: 126,039,667		probably benign	Het
Csmd1	A	T	8: 16,710,514	C202S	probably damaging	Het
Dlgap4	T	C	2: 156,762,826	S261P	probably damaging	Het
Dnah9	T	A	11: 66,108,135	Y1029F	probably damaging	Het
Dok5	T	C	2: 170,829,960		probably benign	Het
Dusp11	A	T	6: 85,952,370		probably benign	Het
Edar	T	C	10: 58,629,440	N34D	probably benign	Het
Efcab7	C	T	4: 99,909,746	T56I	probably damaging	Het
Entpd1	G	A	19: 40,711,285	V47I	probably benign	Het
Ephx4	A	G	5: 107,403,735	N62S	probably benign	Het
Etaa1	A	T	11: 17,946,350	L589*	probably null	Het
Fam135b	T	A	15: 71,463,821	N508I	probably benign	Het
Fam193a	T	C	5: 34,466,208	V27A	possibly damaging	Het
Fmnl1	A	G	11: 103,194,063		probably benign	Het
Fstl1	A	C	16: 37,821,154		probably null	Het
Gbp4	G	A	5: 105,121,106	R394C	possibly damaging	Het
Gemin4	T	C	11: 76,211,322	Y871C	probably benign	Het
Gm7247	T	C	14: 51,523,472	V166A	probably benign	Het
Gpcpd1	A	T	2: 132,564,623		probably benign	Het
Gpnmb	A	G	6: 49,042,803	D36G	probably benign	Het
Ido2	C	T	8: 24,558,143		probably null	Het
Igfn1	G	A	1: 135,967,596	T1744I	probably benign	Het
Inf2	T	G	12: 112,601,676	F221V	probably damaging	Het
Itga10	T	A	3: 96,649,059	I170N	probably damaging	Het
Lrp6	A	T	6: 134,507,624	D345E	probably damaging	Het
Macf1	A	T	4: 123,472,269	S2900T	probably benign	Het
Med13	C	A	11: 86,299,207		probably benign	Het
Morc3	T	C	16: 93,870,474	V507A	probably damaging	Het
Myadm	AC	ACC	7: 3,296,760		probably null	Het
Myl6	C	T	10: 128,492,222		probably benign	Het
Mylk	T	C	16: 34,921,944	V942A	probably benign	Het
Ncdn	G	T	4: 126,750,534	T165K	possibly damaging	Het
Ncf1	T	C	5: 134,222,802		probably benign	Het
Neb	T	C	2: 52,290,739		probably benign	Het
Nid1	T	A	13: 13,482,096	I604N	probably benign	Het
Nsrp1	T	C	11: 77,046,171	R400G	probably benign	Het
Nup43	T	G	10: 7,671,027	I137S	probably benign	Het
Nynrin	A	G	14: 55,872,191	N1585S	possibly damaging	Het
Obscn	T	A	11: 59,002,997	Y6748F	probably benign	Het
Olfr1058	G	A	2: 86,385,714	R235C	probably benign	Het
Olfr1211	A	G	2: 88,929,562	V251A	probably benign	Het
Olfr1389	T	C	11: 49,431,385	V303A	possibly damaging	Het
Olfr60	A	T	7: 140,345,195	S265T	possibly damaging	Het
Olfr623	A	T	7: 103,660,750	F167I	possibly damaging	Het
Olfr67	A	G	7: 103,788,155	Y41H	probably damaging	Het
Olfr944	A	G	9: 39,218,270	I304M	probably benign	Het
Olfr992	T	C	2: 85,399,675	N286S	probably damaging	Het
Omg	A	G	11: 79,502,835	S66P	possibly damaging	Het
Ormdl1	C	T	1: 53,308,819		probably benign	Het
Ovch2	T	A	7: 107,782,036	I552L	probably benign	Het
Pcsk9	G	T	4: 106,454,341	T231N	probably damaging	Het
Pgpep1	T	C	8: 70,657,450	N22S	probably damaging	Het
Plb1	T	C	5: 32,355,362	F1355L	probably damaging	Het
Plcg1	G	T	2: 160,761,429	L1173F	probably damaging	Het
Plch2	A	T	4: 155,006,916		probably null	Het
Ppp1r3g	T	A	13: 35,969,348	F250L	probably damaging	Het
Prkcg	A	G	7: 3,319,579	I381V	probably benign	Het
Pum2	C	T	12: 8,713,464	A207V	probably benign	Het
Rabac1	T	C	7: 24,970,182	E166G	probably damaging	Het
Rad21l	G	A	2: 151,651,931	S450L	probably benign	Het
Rangap1	ACACTCA	ACA	15: 81,716,675		probably null	Het
Reg3b	G	T	6: 78,371,841	C40F	probably damaging	Het
Rfx2	A	G	17: 56,784,418		probably benign	Het
Rrp15	G	A	1: 186,749,149		probably benign	Het
Schip1	G	T	3: 68,494,613	G36C	probably damaging	Het
Sec61a2	A	T	2: 5,876,354		probably benign	Het
Sema5a	A	G	15: 32,669,444	K705E	probably damaging	Het
Setx	A	G	2: 29,139,278	Y186C	probably damaging	Het
Slc5a5	T	C	8: 70,891,675	T134A	possibly damaging	Het
Stx7	T	C	10: 24,181,594	S173P	probably damaging	Het
Sybu	T	C	15: 44,673,272	T353A	probably damaging	Het
Syde2	T	A	3: 146,007,132	N1008K	probably damaging	Het
Tiam1	T	C	16: 89,809,365		probably benign	Het
Timm10b	G	A	7: 105,678,330	E61K	probably benign	Het
Tm2d1	A	G	4: 98,365,573	I121T	probably damaging	Het
Trim75	T	C	8: 64,983,240	E186G	probably benign	Het
Tti1	T	C	2: 157,995,476	K895E	probably benign	Het
Vmn1r43	A	G	6: 89,869,848	S219P	probably damaging	Het
Vmn2r73	A	T	7: 85,871,879	S294T	possibly damaging	Het
Vmn2r94	A	T	17: 18,243,818	F737I	probably damaging	Het
Vsx2	A	T	12: 84,570,003	T21S	probably benign	Het
Wrb	T	G	16: 96,153,017	S105R	probably benign	Het
Zfp462	G	T	4: 55,010,534	R833S	probably damaging	Het
Zfpl1	G	A	19: 6,082,452	P143L	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
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

Predicted Primers

PCR Primer
(F):5'- TGGTCCAGCGAGCTACATAGTCTTC -3'
(R):5'- GGCATCAAGATAGTGGTGACCCAG -3'

Sequencing Primer
(F):5'- ATAGTCTTCATGCCATTGGCAG -3'
(R):5'- gcctaacctcttgactacctc -3'

Posted On

2013-05-09