Mutagenetix > Incidental Mutation

Incidental Mutation 'R7291:Slc22a23'

566436

Institutional Source

Beutler Lab

Gene Symbol

Slc22a23

Ensembl Gene

ENSMUSG00000038267

Gene Name

solute carrier family 22, member 23

Synonyms

3110004L20Rik

MMRRC Submission

045322-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R7291 (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 34381822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 421 (N421D)

Ref Sequence

ENSEMBL: ENSMUSP00000042742 (fasta)

Gene Model

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

AlphaFold

Q3UHH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000040336
AA Change: N421D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: N421D

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: N305D

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: 99.6%
20x: 98.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	C	15: 34,355,699 (GRCm39)	E51G	possibly damaging	Het
Abca14	C	A	7: 119,888,832 (GRCm39)	C1259*	probably null	Het
Ablim1	T	C	19: 57,204,340 (GRCm39)	E17G	probably benign	Het
Acsf3	G	A	8: 123,540,316 (GRCm39)	V505I	probably benign	Het
Actn1	T	C	12: 80,220,859 (GRCm39)	M650V	probably benign	Het
Adamts4	G	A	1: 171,084,097 (GRCm39)	V525I	probably benign	Het
Adh1	T	C	3: 137,988,569 (GRCm39)	Y181H	probably damaging	Het
Alpl	G	A	4: 137,480,009 (GRCm39)	R168W	probably damaging	Het
Ate1	T	G	7: 130,121,661 (GRCm39)	K11Q	probably benign	Het
Atpaf1	T	A	4: 115,668,288 (GRCm39)	F314L	probably damaging	Het
Baiap3	T	A	17: 25,463,291 (GRCm39)	D1004V	probably damaging	Het
Bpifb9a	C	T	2: 154,109,616 (GRCm39)	T504M	probably damaging	Het
C1s2	T	A	6: 124,602,343 (GRCm39)	I623F	probably benign	Het
Card11	T	C	5: 140,886,825 (GRCm39)	D308G	probably damaging	Het
Cul9	C	T	17: 46,851,359 (GRCm39)	V354I	probably benign	Het
Dnah1	A	T	14: 31,020,662 (GRCm39)	F1236I	probably damaging	Het
Dync2h1	T	A	9: 6,929,590 (GRCm39)	I4266F	possibly damaging	Het
Ear10	A	T	14: 44,160,377 (GRCm39)	V150D	probably damaging	Het
Elfn2	C	T	15: 78,557,183 (GRCm39)	A455T	probably benign	Het
Erp44	A	G	4: 48,208,792 (GRCm39)	Y223H	probably damaging	Het
Fam110b	T	A	4: 5,798,895 (GRCm39)	H104Q	probably benign	Het
Fcgbp	A	G	7: 27,800,817 (GRCm39)	N1288D	probably benign	Het
Fcgbpl1	A	C	7: 27,839,645 (GRCm39)	D486A	probably benign	Het
Fcrl1	T	C	3: 87,293,088 (GRCm39)		probably null	Het
Fmo2	G	T	1: 162,715,271 (GRCm39)	P117Q	probably benign	Het
Fsip2	A	G	2: 82,810,863 (GRCm39)	K2394R	possibly damaging	Het
Gab1	T	G	8: 81,526,780 (GRCm39)	K106T	probably damaging	Het
Gatad2b	T	C	3: 90,258,721 (GRCm39)	V248A	probably damaging	Het
Gemin6	T	C	17: 80,535,204 (GRCm39)	S55P	possibly damaging	Het
Gfm2	G	A	13: 97,311,532 (GRCm39)	V701I	probably benign	Het
Gm3250	T	C	10: 77,618,061 (GRCm39)	T106A	unknown	Het
Gm7356	T	C	17: 14,221,843 (GRCm39)	N62S	probably benign	Het
Gsdmc4	T	C	15: 63,774,689 (GRCm39)	T31A	possibly damaging	Het
H2-M10.1	T	A	17: 36,636,621 (GRCm39)	D61V	probably damaging	Het
Heatr5a	A	G	12: 51,972,122 (GRCm39)	L716S	probably damaging	Het
Hecw2	A	G	1: 53,953,753 (GRCm39)	Y831H	probably damaging	Het
Ifi202b	C	T	1: 173,802,381 (GRCm39)	S151N	probably benign	Het
Il15ra	C	T	2: 11,723,192 (GRCm39)	T72I	probably damaging	Het
Ints1	A	G	5: 139,750,829 (GRCm39)	L858P	probably damaging	Het
Kat2a	C	T	11: 100,601,726 (GRCm39)	V230I	possibly damaging	Het
Kcnq2	A	T	2: 180,730,172 (GRCm39)	I498N	possibly damaging	Het
Kif26b	C	T	1: 178,506,611 (GRCm39)	T229I	possibly damaging	Het
Ly75	T	A	2: 60,160,337 (GRCm39)	I957F	probably damaging	Het
Map3k12	T	A	15: 102,410,601 (GRCm39)	R459W	probably damaging	Het
Mia2	T	A	12: 59,205,155 (GRCm39)		probably null	Het
Mrgprf	A	G	7: 144,861,206 (GRCm39)	I53V	unknown	Het
Mttp	A	G	3: 137,796,964 (GRCm39)	L846P	probably damaging	Het
Myrip	C	T	9: 120,246,207 (GRCm39)	L112F	probably damaging	Het
Nav1	A	G	1: 135,393,597 (GRCm39)	F1047S	probably damaging	Het
Nfkbib	T	C	7: 28,458,628 (GRCm39)	D327G	possibly damaging	Het
Notch1	C	T	2: 26,366,387 (GRCm39)	V776I	probably benign	Het
Obsl1	G	T	1: 75,466,161 (GRCm39)	D1522E	probably damaging	Het
Or52s6	T	A	7: 103,091,995 (GRCm39)	M112L	probably benign	Het
Or5b110-ps1	A	T	19: 13,259,517 (GRCm39)	F302I	unknown	Het
Or7e168	T	C	9: 19,719,944 (GRCm39)	M110T	possibly damaging	Het
Or9r3	T	C	10: 129,948,093 (GRCm39)	K189E	probably benign	Het
Pde7a	T	C	3: 19,281,838 (GRCm39)	N471D	probably benign	Het
Pla2r1	T	C	2: 60,360,779 (GRCm39)	H203R	probably benign	Het
Plch2	C	A	4: 155,082,929 (GRCm39)	C573F	probably damaging	Het
Polr1a	G	A	6: 71,918,440 (GRCm39)	R666Q	probably benign	Het
Prepl	T	C	17: 85,388,668 (GRCm39)	N145S	probably benign	Het
Psen2	C	T	1: 180,066,521 (GRCm39)	V139M	probably benign	Het
Ptgdr	A	T	14: 45,096,649 (GRCm39)	M21K	possibly damaging	Het
Rapgef6	T	C	11: 54,582,065 (GRCm39)	W1331R	probably benign	Het
Rp1l1	G	A	14: 64,269,747 (GRCm39)	G1778S	probably benign	Het
Rrbp1	A	T	2: 143,811,382 (GRCm39)	M824K	probably benign	Het
Sel1l	T	C	12: 91,815,739 (GRCm39)	T23A	probably benign	Het
Sele	A	G	1: 163,881,437 (GRCm39)	S515G	possibly damaging	Het
Slc35f3	T	G	8: 127,121,297 (GRCm39)	L386R	probably benign	Het
Stab2	G	A	10: 86,782,084 (GRCm39)	S699L	probably damaging	Het
Synrg	A	T	11: 83,900,207 (GRCm39)	L726F	probably damaging	Het
Syt3	G	A	7: 44,045,343 (GRCm39)	V528M	probably damaging	Het
Szt2	A	G	4: 118,248,446 (GRCm39)	I655T	probably damaging	Het
Tbr1	T	C	2: 61,642,600 (GRCm39)	S622P	probably damaging	Het
Tex36	C	T	7: 133,188,952 (GRCm39)	G207S	probably benign	Het
Trav5n-4	G	A	14: 53,550,399 (GRCm39)	W13*	probably null	Het
Trdn	A	T	10: 33,313,732 (GRCm39)	E500V	probably null	Het
Ugt2b38	A	T	5: 87,559,754 (GRCm39)	N379K	probably damaging	Het
Unc13d	T	C	11: 115,964,876 (GRCm39)	R248G	possibly damaging	Het
Vmn1r195	C	T	13: 22,462,919 (GRCm39)	L130F	probably damaging	Het
Vmn2r110	T	C	17: 20,794,471 (GRCm39)	I733V	probably benign	Het
Zfp870	T	A	17: 33,102,828 (GRCm39)	N167I	probably damaging	Het
Zmynd10	A	T	9: 107,426,503 (GRCm39)	M179L	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
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
R9630:Slc22a23	UTSW	13	34,379,390 (GRCm39)	missense	possibly damaging	0.93
X0064:Slc22a23	UTSW	13	34,528,449 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTCCTGTCATCCTTCAAACATCC -3'
(R):5'- TACACTTCCATGCAGAACGC -3'

Sequencing Primer
(F):5'- TTCAAACATCCCCAGACATACTTCTG -3'
(R):5'- TGCAGAACGCCCAGACTCTTC -3'

Posted On

2019-06-26