Mutagenetix > Incidental Mutation

Incidental Mutation 'R9630:Slc22a23'

725455

Institutional Source

Beutler Lab

Gene Symbol

Slc22a23

Ensembl Gene

ENSMUSG00000038267

Gene Name

solute carrier family 22, member 23

Synonyms

3110004L20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R9630 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34363141-34529165 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34379390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 459 (N459S)

Ref Sequence

ENSEMBL: ENSMUSP00000042742 (fasta)

Gene Model

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

AlphaFold

Q3UHH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040336
AA Change: N459S

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: N459S

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

SMART Domains

Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: N343S

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: 99.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	A	G	6: 48,952,756 (GRCm39)	D227G	probably damaging	Het
Arhgap17	A	G	7: 122,907,540 (GRCm39)	M274T	probably benign	Het
Bco2	T	C	9: 50,456,757 (GRCm39)	T128A	possibly damaging	Het
Bcr	T	A	10: 74,966,950 (GRCm39)	L519Q	probably damaging	Het
Cadps2	A	T	6: 23,587,571 (GRCm39)	S306R	probably benign	Het
Cage1	T	C	13: 38,206,855 (GRCm39)	E330G	probably damaging	Het
Ccdc8	A	G	7: 16,728,733 (GRCm39)	K74R	possibly damaging	Het
Cdc42ep2	C	A	19: 5,968,363 (GRCm39)	G114V		Het
Celsr3	T	C	9: 108,704,296 (GRCm39)	S260P	probably benign	Het
Clic4	G	A	4: 134,944,476 (GRCm39)	T233I	probably damaging	Het
Clip2	C	A	5: 134,531,934 (GRCm39)	D624Y	probably damaging	Het
Clock	A	G	5: 76,393,281 (GRCm39)	S221P	probably benign	Het
Creb3l2	G	T	6: 37,356,808 (GRCm39)	S86R	possibly damaging	Het
Cspp1	G	A	1: 10,108,292 (GRCm39)		probably benign	Het
Dusp13b	A	T	14: 21,784,974 (GRCm39)	N128K	probably benign	Het
Efnb2	T	C	8: 8,670,617 (GRCm39)	S328G	probably damaging	Het
Egf	A	G	3: 129,518,844 (GRCm39)	L335P	possibly damaging	Het
Eml4	T	A	17: 83,717,572 (GRCm39)	V48D	probably damaging	Het
Fat2	A	C	11: 55,147,605 (GRCm39)	V3879G	probably benign	Het
Fcgbpl1	T	C	7: 27,836,624 (GRCm39)	L181P	probably damaging	Het
Flnb	T	A	14: 7,926,438 (GRCm38)	Y1827*	probably null	Het
Fuca2	A	T	10: 13,378,820 (GRCm39)	Y71F	probably benign	Het
Gcn1	C	A	5: 115,741,349 (GRCm39)	H1463N	probably damaging	Het
Ifitm10	C	T	7: 141,924,909 (GRCm39)	A48T	probably damaging	Het
Iqce	T	C	5: 140,666,591 (GRCm39)	D385G	possibly damaging	Het
Kdm5b	T	A	1: 134,512,971 (GRCm39)		probably null	Het
Kdm7a	A	T	6: 39,150,239 (GRCm39)	S178T	probably damaging	Het
Mmp12	T	A	9: 7,347,516 (GRCm39)	M31K	probably benign	Het
Mon2	C	T	10: 122,874,415 (GRCm39)	R311H	probably damaging	Het
Myh15	A	G	16: 48,980,341 (GRCm39)	T1488A	probably benign	Het
Myo15a	T	A	11: 60,407,988 (GRCm39)	C3159S	probably damaging	Het
Nf1	T	C	11: 79,302,470 (GRCm39)	V346A	probably damaging	Het
Nfkbib	A	T	7: 28,461,304 (GRCm39)	Y114*	probably null	Het
Nr2c1	T	A	10: 93,998,285 (GRCm39)	D76E	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or1ak2	T	C	2: 36,827,653 (GRCm39)	I174T	probably damaging	Het
Or4a74	C	A	2: 89,440,349 (GRCm39)	M32I	probably benign	Het
Or5m10b	A	G	2: 85,699,493 (GRCm39)	M186V	probably benign	Het
Or6c33	T	C	10: 129,853,410 (GRCm39)	F60S	probably damaging	Het
Or8h7	A	C	2: 86,720,956 (GRCm39)	S188A	probably damaging	Het
Pced1a	A	T	2: 130,261,109 (GRCm39)	I416N	probably benign	Het
Pdzd2	G	T	15: 12,374,443 (GRCm39)	D1897E	probably benign	Het
Pign	A	T	1: 105,481,591 (GRCm39)	F802I	probably benign	Het
Pik3c2g	C	A	6: 139,599,237 (GRCm39)	Q118K	possibly damaging	Het
Plcl2	A	G	17: 50,947,147 (GRCm39)	M1009V	probably benign	Het
Ppil6	T	A	10: 41,370,550 (GRCm39)	D59E	probably benign	Het
Rad23a	T	C	8: 85,564,919 (GRCm39)	D152G	probably benign	Het
Rif1	A	G	2: 51,979,607 (GRCm39)	I430V	probably damaging	Het
Rint1	T	C	5: 24,020,810 (GRCm39)	V611A	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sall4	A	G	2: 168,596,408 (GRCm39)	S811P	probably benign	Het
Scaf11	G	A	15: 96,316,049 (GRCm39)	P1172S	probably damaging	Het
Sel1l3	T	G	5: 53,342,117 (GRCm39)	N368H	possibly damaging	Het
Sele	C	A	1: 163,879,523 (GRCm39)	P352Q	probably damaging	Het
Serpinf1	T	A	11: 75,301,852 (GRCm39)	T268S	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sis	A	T	3: 72,828,722 (GRCm39)	N1152K	probably benign	Het
Slc16a13	T	C	11: 70,108,597 (GRCm39)	E411G	possibly damaging	Het
Srpk1	C	A	17: 28,819,404 (GRCm39)	K268N	probably benign	Het
Ssbp3	A	G	4: 106,895,426 (GRCm39)	Y258C	probably damaging	Het
Ssc5d	C	T	7: 4,939,426 (GRCm39)	P621S	probably damaging	Het
Strada	T	C	11: 106,077,781 (GRCm39)	Q61R	unknown	Het
Strn3	G	A	12: 51,657,013 (GRCm39)	T755I	probably damaging	Het
Taf4b	C	G	18: 14,930,077 (GRCm39)	P150A	probably damaging	Het
Tmem236	T	A	2: 14,223,815 (GRCm39)	H201Q	probably benign	Het
Top3b	A	G	16: 16,710,354 (GRCm39)	E728G	probably benign	Het
Tshr	C	T	12: 91,504,409 (GRCm39)	P449L	probably damaging	Het
Ugt2b36	C	T	5: 87,239,773 (GRCm39)	G204D	possibly damaging	Het
Vldlr	A	T	19: 27,207,623 (GRCm39)	Q37L	probably damaging	Het
Zfat	A	T	15: 67,990,793 (GRCm39)	I1031N	probably benign	Het

Other mutations in Slc22a23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Slc22a23	APN	13	34,489,228 (GRCm39)	missense	probably damaging	1.00
IGL01762:Slc22a23	APN	13	34,387,984 (GRCm39)	missense	possibly damaging	0.71
IGL02496:Slc22a23	APN	13	34,528,468 (GRCm39)	missense	possibly damaging	0.93
IGL02516:Slc22a23	APN	13	34,387,938 (GRCm39)	missense	probably benign	0.02
IGL02831:Slc22a23	APN	13	34,483,052 (GRCm39)	missense	possibly damaging	0.81
Foreshadowed	UTSW	13	34,379,462 (GRCm39)	missense	probably damaging	0.98
foretold	UTSW	13	34,489,163 (GRCm39)	missense	probably benign	0.08
BB009:Slc22a23	UTSW	13	34,366,960 (GRCm39)	missense	probably damaging	0.99
BB019:Slc22a23	UTSW	13	34,366,960 (GRCm39)	missense	probably damaging	0.99
R0234:Slc22a23	UTSW	13	34,367,244 (GRCm39)	missense	probably damaging	1.00
R0234:Slc22a23	UTSW	13	34,367,244 (GRCm39)	missense	probably damaging	1.00
R0413:Slc22a23	UTSW	13	34,367,115 (GRCm39)	missense	probably damaging	1.00
R0557:Slc22a23	UTSW	13	34,528,366 (GRCm39)	missense	possibly damaging	0.50
R0558:Slc22a23	UTSW	13	34,528,366 (GRCm39)	missense	possibly damaging	0.50
R0636:Slc22a23	UTSW	13	34,483,076 (GRCm39)	missense	probably benign	0.01
R0676:Slc22a23	UTSW	13	34,379,462 (GRCm39)	missense	probably damaging	0.98
R0739:Slc22a23	UTSW	13	34,528,366 (GRCm39)	missense	possibly damaging	0.50
R0990:Slc22a23	UTSW	13	34,379,450 (GRCm39)	missense	probably damaging	1.00
R1515:Slc22a23	UTSW	13	34,387,947 (GRCm39)	missense	probably benign	0.33
R2128:Slc22a23	UTSW	13	34,387,953 (GRCm39)	missense	possibly damaging	0.76
R2147:Slc22a23	UTSW	13	34,366,990 (GRCm39)	missense	probably benign	0.00
R3113:Slc22a23	UTSW	13	34,367,058 (GRCm39)	missense	probably damaging	0.98
R3780:Slc22a23	UTSW	13	34,528,323 (GRCm39)	missense	probably benign	0.14
R3945:Slc22a23	UTSW	13	34,367,109 (GRCm39)	missense	probably damaging	0.98
R3946:Slc22a23	UTSW	13	34,367,109 (GRCm39)	missense	probably damaging	0.98
R4056:Slc22a23	UTSW	13	34,482,987 (GRCm39)	nonsense	probably null
R4095:Slc22a23	UTSW	13	34,489,189 (GRCm39)	missense	probably damaging	1.00
R4854:Slc22a23	UTSW	13	34,387,924 (GRCm39)	missense	probably benign
R5594:Slc22a23	UTSW	13	34,489,240 (GRCm39)	missense	probably damaging	0.99
R5611:Slc22a23	UTSW	13	34,489,222 (GRCm39)	missense	probably benign	0.00
R6167:Slc22a23	UTSW	13	34,528,542 (GRCm39)	missense	probably damaging	0.97
R6927:Slc22a23	UTSW	13	34,528,362 (GRCm39)	missense	probably benign	0.07
R6933:Slc22a23	UTSW	13	34,489,163 (GRCm39)	missense	probably benign	0.08
R6960:Slc22a23	UTSW	13	34,528,140 (GRCm39)	critical splice donor site	probably null
R7291:Slc22a23	UTSW	13	34,381,822 (GRCm39)	missense	probably damaging	0.99
R7313:Slc22a23	UTSW	13	34,367,161 (GRCm39)	missense	probably damaging	1.00
R7932:Slc22a23	UTSW	13	34,366,960 (GRCm39)	missense	probably damaging	0.99
R8058:Slc22a23	UTSW	13	34,489,167 (GRCm39)	nonsense	probably null
R9385:Slc22a23	UTSW	13	34,528,561 (GRCm39)	missense	probably benign	0.05
R9560:Slc22a23	UTSW	13	34,381,851 (GRCm39)	missense	possibly damaging	0.51
X0064:Slc22a23	UTSW	13	34,528,449 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCAGCCTACTCACAGTTG -3'
(R):5'- AGGTGCTTTGTCCTACACCC -3'

Sequencing Primer
(F):5'- TCACAGTTGAGAAGCCCGAGC -3'
(R):5'- GTGTAGTCACAGCATGCTTTC -3'

Posted On

2022-09-12