Mutagenetix > Incidental Mutation

Incidental Mutation 'R6167:Slc22a23'

490212

Institutional Source

Beutler Lab

Gene Symbol

Slc22a23

Ensembl Gene

ENSMUSG00000038267

Gene Name

solute carrier family 22, member 23

Synonyms

3110004L20Rik

MMRRC Submission

044313-MU

Accession Numbers

Essential gene?

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

Stock #

R6167 (G1)

Quality Score

131.008

Status

Not validated

Chromosome

Chromosomal Location

34179158-34345182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34344559 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 80 (Y80F)

Ref Sequence

ENSEMBL: ENSMUSP00000042742 (fasta)

Gene Model

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

AlphaFold

Q3UHH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000040336
AA Change: Y80F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042742
Gene: ENSMUSG00000038267
AA Change: Y80F

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: Y12F

SMART Domains

Protein: ENSMUSP00000122376
Gene: ENSMUSG00000038267
AA Change: Y12F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000148390

SMART Domains

Protein: ENSMUSP00000122283
Gene: ENSMUSG00000038267

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (50/51)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,292,105	E1042V	probably benign	Het
Ahnak2	T	C	12: 112,783,122	E1035G	probably benign	Het
Aip	T	G	19: 4,115,188	D227A	probably benign	Het
Ankrd13d	T	C	19: 4,273,053	H283R	probably damaging	Het
Aox4	C	T	1: 58,263,935	T1175I	probably damaging	Het
Atn1	T	C	6: 124,746,737		probably benign	Het
Camkk2	A	G	5: 122,764,124	S41P	probably damaging	Het
Ceacam16	G	A	7: 19,861,257		probably benign	Het
Dcaf15	T	C	8: 84,097,997	N524D	possibly damaging	Het
Dcaf7	A	T	11: 106,037,251	Y43F	probably damaging	Het
Epha3	T	C	16: 63,612,924	I453V	probably benign	Het
Etv1	A	T	12: 38,865,641	T413S	possibly damaging	Het
Evx2	A	C	2: 74,659,262	L53R	probably damaging	Het
Fam168b	G	A	1: 34,819,603	A166V	probably damaging	Het
Fancm	A	T	12: 65,094,895	Y430F	probably benign	Het
Fyb2	A	G	4: 104,945,464	T188A	possibly damaging	Het
Gabbr1	T	C	17: 37,063,379	I538T	probably damaging	Het
Glyctk	T	A	9: 106,156,492	T208S	possibly damaging	Het
Golga7	T	C	8: 23,245,888	D114G	probably damaging	Het
Grip1	T	C	10: 119,897,797		probably null	Het
Gtf2f1	G	T	17: 57,004,161	S351R	probably damaging	Het
Hook2	T	C	8: 84,995,013	L300P	probably damaging	Het
Hsf4	A	G	8: 105,270,849	S45G	probably damaging	Het
Iars	T	A	13: 49,722,714	M825K	probably damaging	Het
Kcnj2	A	G	11: 111,072,489	I236V	probably benign	Het
Large2	G	A	2: 92,367,088	T354I	probably benign	Het
Mak	C	A	13: 41,053,352	V101F	probably benign	Het
Mylk2	A	G	2: 152,915,753		probably null	Het
Myo18b	A	T	5: 112,872,507		probably null	Het
Neb	T	A	2: 52,147,237	H2955L	probably benign	Het
Neurl1a	G	C	19: 47,239,928	G71A	probably damaging	Het
Ogfrl1	A	T	1: 23,376,228	L142Q	probably damaging	Het
Olfr387-ps1	A	G	11: 73,665,334	T242A	probably damaging	Het
Olfr743	C	A	14: 50,534,155	H248N	probably damaging	Het
P3h4	C	A	11: 100,411,845	A322S	probably damaging	Het
Piwil2	A	C	14: 70,422,893		probably null	Het
Pkd2l2	A	G	18: 34,428,244	D435G	probably damaging	Het
Plekha6	A	G	1: 133,279,407	N567S	probably null	Het
Prss54	G	A	8: 95,559,545	P300L	possibly damaging	Het
Pxdn	G	A	12: 29,974,001	R67Q	probably damaging	Het
Rapgef3	C	A	15: 97,767,411		probably benign	Het
Sec24b	C	T	3: 129,988,901	G1147S	possibly damaging	Het
Sh2b3	A	T	5: 121,828,355		probably null	Het
Sh3glb1	A	T	3: 144,691,903	D358E	probably damaging	Het
Shmt2	C	T	10: 127,517,862	R478H	probably benign	Het
Slc1a6	A	G	10: 78,801,837	E399G	probably benign	Het
Slc25a19	A	G	11: 115,615,551	V272A	probably benign	Het
Stk32a	A	T	18: 43,313,409	D308V	probably damaging	Het
Tenm3	T	C	8: 48,254,622	I1698V	possibly damaging	Het
Thoc5	G	A	11: 4,915,497	V359M	probably benign	Het
Tmpo	C	T	10: 91,162,938	R329H	probably benign	Het
Trim8	T	C	19: 46,515,187	S393P	probably benign	Het
Vill	A	T	9: 119,066,864	Y103F	probably damaging	Het
Zfp948	T	G	17: 21,587,649	F368V	probably benign	Het
Zpld1	C	T	16: 55,233,599	E277K	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
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
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'- GGTCCAATTGCCCATGTCAC -3'
(R):5'- GAGGACTCGAACGGTTTCTG -3'

Sequencing Primer
(F):5'- ATCGGCCGGTGACAGTG -3'
(R):5'- CCTGGCCATGGCGATAG -3'

Posted On

2017-10-10