Mutagenetix > Incidental Mutation

Incidental Mutation 'BB019:Slc22a23'

643088

Institutional Source

Beutler Lab

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 #

BB019

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34179158-34345182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 34182977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 683 (A683S)

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: A683S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: A683S

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

probably benign
Transcript: ENSMUST00000147632

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: A559S

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,573,180	R666G	unknown	Het
Adam21	T	A	12: 81,560,164	N275Y	probably damaging	Het
Arhgap24	A	T	5: 102,845,969		probably benign	Het
Arhgef1	C	T	7: 24,919,710	L459F	probably damaging	Het
Bbx	A	T	16: 50,210,443		probably null	Het
Blk	C	T	14: 63,373,559	G445S	possibly damaging	Het
Brca1	T	C	11: 101,540,017	E33G	possibly damaging	Het
Cacna1s	T	G	1: 136,084,359	L513R	probably damaging	Het
Cnn3	T	A	3: 121,451,429	M98K	probably benign	Het
Cttnbp2	T	A	6: 18,427,533	L716F	probably damaging	Het
Dlgap1	A	T	17: 70,516,238	R73W	probably damaging	Het
Dnajc4	A	G	19: 6,988,270	L182P	probably damaging	Het
Dock2	T	C	11: 34,267,998	M1191V	probably benign	Het
Fam13a	C	T	6: 58,983,888		probably null	Het
Fbn2	C	T	18: 58,020,483	G2569E	possibly damaging	Het
Fes	T	C	7: 80,379,872	I623V	probably damaging	Het
Fyco1	A	C	9: 123,828,990	L707R	possibly damaging	Het
Gadd45b	T	A	10: 80,930,335	V7E	possibly damaging	Het
Gm12169	C	A	11: 46,535,539	P158T	probably benign	Het
Gm19410	T	A	8: 35,795,599	C897S	probably damaging	Het
Hk1	A	G	10: 62,315,520	L31P	probably damaging	Het
Hoxa4	T	G	6: 52,190,417	K261N	probably damaging	Het
Hrh4	T	A	18: 13,015,812	L77*	probably null	Het
Igf1r	A	T	7: 68,212,054	I1121F	possibly damaging	Het
Igkv16-104	A	T	6: 68,425,794	I24L	probably benign	Het
Itk	A	T	11: 46,340,692	W346R	probably benign	Het
Kdm2a	A	G	19: 4,319,156	S1144P	probably damaging	Het
Krt86	A	T	15: 101,476,592	S289C	probably damaging	Het
Lonrf1	T	C	8: 36,222,916	I663V	probably benign	Het
Lrp2	T	G	2: 69,426,027	I4590L	probably benign	Het
Lrrc8d	C	T	5: 105,813,025	R434C	probably damaging	Het
Maneal	T	C	4: 124,861,845	Y108C	probably damaging	Het
Myh8	G	A	11: 67,294,604	V894I	probably benign	Het
Ncam2	T	G	16: 81,615,820	L732R	probably damaging	Het
Nsun4	A	T	4: 116,044,800	D156E	probably damaging	Het
Olfr111	T	C	17: 37,530,184	I69T	probably benign	Het
Olfr136	A	T	17: 38,335,255	I33L	probably benign	Het
Olfr1459	A	T	19: 13,145,981	M226K	probably benign	Het
Olfr382	A	C	11: 73,517,157	L14R	probably damaging	Het
Olfr419	T	C	1: 174,250,694	I78V	probably benign	Het
Olfr798	C	A	10: 129,625,225	V279F	probably damaging	Het
P2rx7	G	A	5: 122,644,182	V37I	probably benign	Het
Pcdh15	A	G	10: 74,645,527	R235G	probably benign	Het
Pcdhga1	T	C	18: 37,663,460	S506P	probably damaging	Het
Pira2	A	T	7: 3,842,436		probably null	Het
Plch1	A	G	3: 63,701,981	V935A	probably benign	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Prpf8	A	G	11: 75,492,597	D607G	possibly damaging	Het
Ptdss1	T	C	13: 66,966,432	W215R	probably damaging	Het
Ptpn9	C	A	9: 57,036,616	P258Q	possibly damaging	Het
Rfpl4b	A	G	10: 38,821,350	V85A	possibly damaging	Het
Sacs	C	A	14: 61,204,878	Q1458K	probably damaging	Het
Scfd2	A	T	5: 74,531,550	S24T	probably benign	Het
Siae	A	G	9: 37,633,684	D325G	probably benign	Het
Slc44a3	A	T	3: 121,512,360	I244N	possibly damaging	Het
Srrm2	T	A	17: 23,818,527	S1382T	probably benign	Het
Tfap2c	A	G	2: 172,551,786	Y207C	probably damaging	Het
Tnc	T	C	4: 64,008,620	I890V	probably benign	Het
Trim30a	A	T	7: 104,429,338	I177N	probably benign	Het
Tshz2	T	A	2: 169,886,331	M949K	possibly damaging	Het
Ttn	T	G	2: 76,725,186	T30492P	probably damaging	Het
Ubb	C	T	11: 62,552,785	Q214*	probably null	Het
Ulk2	A	G	11: 61,808,090	S423P	probably benign	Het
Vmn1r237	C	A	17: 21,314,463	D149E	probably benign	Het
Zbtb24	A	G	10: 41,451,508	D130G	probably benign	Het
Zfp689	C	A	7: 127,444,351	G369V	probably damaging	Het
Zg16	A	G	7: 127,050,405	F128S	probably damaging	Het
Zmym1	T	G	4: 127,050,785	N203T	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGATGTGTTCCTCGGATG -3'
(R):5'- ATCCTCCTGCTTCCTGAGAG -3'

Sequencing Primer
(F):5'- TCCTCGGATGTCTGGAAAGAC -3'
(R):5'- CTGAGAGCAGGAACCAGAACC -3'

Posted On

2020-08-01