Mutagenetix > Incidental Mutation

Incidental Mutation 'R3780:Slc22a23'

272021

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: 0.214) question?

Stock #

R3780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34179158-34345182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34344340 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 153 (T153I)

Ref Sequence

ENSEMBL: ENSMUSP00000042742 (fasta)

Gene Model

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

AlphaFold

Q3UHH2

Predicted Effect

probably benign
Transcript: ENSMUST00000040336
AA Change: T153I

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: T153I

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

unknown
Transcript: ENSMUST00000145038
AA Change: T85I

SMART Domains

Protein: ENSMUSP00000122376
Gene: ENSMUSG00000038267
AA Change: T85I

Domain	Start	End	E-Value	Type
low complexity region	86	97	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000148390
AA Change: T37I

SMART Domains

Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: T37I

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

0.1005

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

93% (40/43)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,560,838		noncoding transcript	Het
Adam21	C	T	12: 81,559,273	V572I	probably damaging	Het
Arhgap32	T	A	9: 32,152,019		probably null	Het
Carmil1	A	T	13: 24,137,169	I281N	probably damaging	Het
Cdh12	T	A	15: 21,585,977		probably null	Het
Cdh7	T	A	1: 110,049,004	V133E	probably benign	Het
Cntrob	A	G	11: 69,302,882	L814P	probably damaging	Het
Csmd1	T	C	8: 16,201,986	N952S	probably damaging	Het
Cspg4	A	G	9: 56,888,233	Y1084C	probably damaging	Het
Dlg5	A	G	14: 24,190,310		probably benign	Het
Glis2	T	C	16: 4,613,896		probably benign	Het
Hif3a	T	C	7: 17,054,713	E111G	probably damaging	Het
Kctd4	A	G	14: 75,962,811	D74G	probably benign	Het
Kif21b	A	T	1: 136,156,226	K737M	probably damaging	Het
Ktn1	G	A	14: 47,706,403		probably benign	Het
Lama2	A	T	10: 27,459,339	N113K	probably damaging	Het
Ltv1	A	G	10: 13,179,200	S409P	probably benign	Het
Mgat4c	A	G	10: 102,388,921	E332G	probably benign	Het
Myh6	A	G	14: 54,963,958	F95L	probably benign	Het
Ndufa4l2	A	G	10: 127,515,420	I27V	probably benign	Het
Npepl1	T	G	2: 174,120,654	L371R	probably damaging	Het
Nudt9	A	G	5: 104,047,106	T23A	probably benign	Het
Ocrl	G	A	X: 47,938,303	V416I	probably benign	Het
Olfr123	T	G	17: 37,796,004	C187G	probably damaging	Het
Padi2	C	T	4: 140,917,737	T94I	probably benign	Het
Pcca	G	A	14: 122,684,885	E353K	probably damaging	Het
Pcdhgb2	T	A	18: 37,691,757	N600K	probably damaging	Het
Pex5l	A	G	3: 32,950,844	L593P	probably damaging	Het
Rbp2	G	A	9: 98,498,826	D62N	probably benign	Het
Rock1	G	T	18: 10,067,575	N1319K	probably benign	Het
Ror1	A	C	4: 100,412,117	D384A	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Sacm1l	A	T	9: 123,552,790	E152D	probably benign	Het
Seh1l	T	C	18: 67,775,017	V3A	probably benign	Het
Serpinb6d	T	A	13: 33,664,114	D20E	probably benign	Het
Serpini1	T	G	3: 75,614,635	N144K	probably damaging	Het
Slfn8	A	G	11: 83,017,454	S88P	probably benign	Het
Stpg3	T	A	2: 25,213,863	M154L	probably benign	Het
Vmn2r115	G	A	17: 23,345,172	C106Y	probably damaging	Het
Washc3	C	T	10: 88,219,260	T112M	probably benign	Het
Zfp280d	C	T	9: 72,322,524	T346M	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
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'- GTTTTGGATGAGACCAGTGC -3'
(R):5'- CTGTTGCTGGACTACGATGG -3'

Sequencing Primer
(F):5'- ATGAGACCAGTGCGGATGCC -3'
(R):5'- TGGACTACGATGGCTCCGTG -3'

Posted On

2015-03-25