Mutagenetix > Incidental Mutation

Incidental Mutation 'R2147:Slc22a23'

233944

Institutional Source

Beutler Lab

Gene Symbol

Slc22a23

Ensembl Gene

ENSMUSG00000038267

Gene Name

solute carrier family 22, member 23

Synonyms

3110004L20Rik

MMRRC Submission

040150-MU

Accession Numbers

Essential gene?

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

Stock #

R2147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34179158-34345182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34183007 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 673 (V673M)

Ref Sequence

ENSEMBL: ENSMUSP00000042742 (fasta)

Gene Model

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

AlphaFold

Q3UHH2

Predicted Effect

probably benign
Transcript: ENSMUST00000040336
AA Change: V673M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: V673M

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: V549M

SMART Domains

Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267
AA Change: V549M

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,751,571	D647G	probably benign	Het
4930523C07Rik	T	A	1: 160,075,433	M91K	probably benign	Het
Abr	T	C	11: 76,455,648	R437G	probably damaging	Het
Acaca	T	G	11: 84,276,536	D1045E	probably benign	Het
Adam23	A	T	1: 63,534,362		probably null	Het
Adam34	A	G	8: 43,652,501	Y36H	probably benign	Het
Alg11	G	A	8: 22,065,293	G108D	probably damaging	Het
Alox12e	A	T	11: 70,319,945	I316N	probably damaging	Het
Arid1a	A	T	4: 133,681,366	F1943L	unknown	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC035044	T	C	6: 128,890,904		probably benign	Het
Bcor	G	A	X: 12,057,623	A578V	possibly damaging	Het
C1qtnf12	A	G	4: 155,966,465	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,999		probably benign	Het
Ccnf	A	T	17: 24,230,314		probably null	Het
Cdadc1	A	G	14: 59,597,753		probably null	Het
Cep57l1	A	G	10: 41,740,899	Y131H	probably damaging	Het
Cfap44	A	G	16: 44,451,684	R1267G	probably benign	Het
Chd3	A	T	11: 69,349,028	L1658Q	probably benign	Het
Chl1	T	C	6: 103,715,401		probably null	Het
Chpf2	T	A	5: 24,592,035	F660I	probably damaging	Het
Cmas	T	A	6: 142,771,289	D302E	probably benign	Het
Cpne3	T	A	4: 19,536,562	M233L	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
D430042O09Rik	T	A	7: 125,865,320	H1286Q	probably damaging	Het
Dennd3	T	G	15: 73,523,487	L143R	probably damaging	Het
Dnah2	T	C	11: 69,515,761	M552V	probably benign	Het
Dock2	A	G	11: 34,229,472		probably null	Het
Ergic1	A	G	17: 26,636,050		probably null	Het
Fbxl15	A	T	19: 46,329,188	D103V	probably damaging	Het
Gm4781	C	A	10: 100,396,552		noncoding transcript	Het
Hpca	A	G	4: 129,118,485	I86T	possibly damaging	Het
Lamb3	T	C	1: 193,327,904	V275A	probably benign	Het
Lipe	G	T	7: 25,388,521	A38E	probably benign	Het
Lrrk1	A	T	7: 66,285,411		probably null	Het
Lrsam1	T	C	2: 32,945,879	K292R	probably damaging	Het
Mbtps1	A	T	8: 119,538,859	H316Q	probably benign	Het
Mms22l	T	A	4: 24,580,063	Y525*	probably null	Het
Mrps14	T	C	1: 160,195,292	L9P	possibly damaging	Het
Mycbp2	G	A	14: 103,155,922	H3068Y	probably damaging	Het
Myo15	A	G	11: 60,510,229	D2992G	possibly damaging	Het
N4bp2	T	A	5: 65,809,200	L1327Q	probably damaging	Het
Nradd	A	T	9: 110,622,175	F42I	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,479	I77F	probably damaging	Het
Pank1	T	C	19: 34,827,354	H134R	probably benign	Het
Pcdh7	T	A	5: 58,129,116	M1178K	possibly damaging	Het
Pcnx3	A	T	19: 5,667,605	I1084N	probably damaging	Het
Pdcd11	A	G	19: 47,104,752	M490V	probably benign	Het
Phf2	T	C	13: 48,804,689	K950E	unknown	Het
Pitpnc1	C	T	11: 107,212,518	A252T	probably damaging	Het
Prickle2	A	G	6: 92,425,671	L112P	probably damaging	Het
Prpf8	A	G	11: 75,490,531	I231V	probably benign	Het
Scin	T	A	12: 40,080,985	M310L	probably benign	Het
Serpina3m	T	A	12: 104,389,224	I50N	probably benign	Het
Skint8	C	G	4: 111,937,077	N221K	probably damaging	Het
Slc24a5	A	G	2: 125,087,441	D368G	probably damaging	Het
Slc28a1	A	T	7: 81,126,267	Q237L	possibly damaging	Het
Smchd1	T	A	17: 71,398,588	K1005N	possibly damaging	Het
Stim2	T	C	5: 54,105,375	Y320H	probably damaging	Het
Syne3	T	A	12: 104,953,098	D512V	probably damaging	Het
Tada2a	T	C	11: 84,079,629	D432G	probably damaging	Het
Tcp10a	T	C	17: 7,334,302	S216P	probably damaging	Het
Tmem178b	A	T	6: 40,207,501	Q111L	probably damaging	Het
Tmem236	A	G	2: 14,219,050	I217V	probably benign	Het
Tmem45b	A	G	9: 31,428,981	V128A	probably benign	Het
Tnfaip2	T	C	12: 111,446,022	Y286H	probably damaging	Het
Tsc2	T	A	17: 24,621,142	I427L	possibly damaging	Het
Ttc17	T	A	2: 94,301,794	N1180I	possibly damaging	Het
Ubr1	T	G	2: 120,864,330	D1707A	probably damaging	Het
Vmn1r11	A	G	6: 57,137,598	I82M	probably benign	Het
Vmn2r-ps159	T	C	4: 156,334,719		noncoding transcript	Het
Vps41	G	T	13: 18,839,734		probably null	Het
Wdr66	T	C	5: 123,256,191	V381A	probably benign	Het
Wnt5a	A	G	14: 28,513,317	Y86C	probably damaging	Het
Zfp629	T	C	7: 127,610,444	H731R	probably damaging	Het
Zfp712	T	C	13: 67,041,896	E189G	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
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
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'- CAATTGAGTGGAGTCAGCAGC -3'
(R):5'- AAAAGGCTACTTCCTGCACC -3'

Sequencing Primer
(F):5'- AGCAGCAGAGATGGACTTCCTC -3'
(R):5'- AAGGCTACTTCCTGCACCATATC -3'

Posted On

2014-10-01