Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02350:Slc22a22'

289749

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc22a22

Ensembl Gene

ENSMUSG00000022366

Gene Name

solute carrier family 22 (organic cation transporter), member 22

Synonyms

BC026439, OAT-PG

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02350

Quality Score

Status

Chromosome

Chromosomal Location

57243767-57477625 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57247448 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 461 (V461A)

Ref Sequence

ENSEMBL: ENSMUSP00000105825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022995] [ENSMUST00000110196]

Predicted Effect

probably benign
Transcript: ENSMUST00000022995
AA Change: V461A

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022995
Gene: ENSMUSG00000022366
AA Change: V461A

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:MFS_1	117	483	1.2e-26	PFAM
Pfam:Sugar_tr	144	447	1.3e-20	PFAM
Pfam:Sugar_tr	393	553	3.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110196
AA Change: V461A

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105825
Gene: ENSMUSG00000022366
AA Change: V461A

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:MFS_1	116	483	1.4e-26	PFAM
Pfam:Sugar_tr	145	426	1e-19	PFAM
Pfam:Sugar_tr	391	553	2.7e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110035E14Rik	T	C	1: 9,613,319	I44T	possibly damaging	Het
Abhd8	A	G	8: 71,461,477	V169A	probably benign	Het
Adamts16	T	A	13: 70,738,585	T1029S	probably benign	Het
Adgrv1	C	A	13: 81,270,855	C6007F	probably benign	Het
Ak8	A	T	2: 28,700,213	H8L	probably benign	Het
Apol7b	A	G	15: 77,423,632	V221A	probably benign	Het
BC005624	G	A	2: 30,973,767	P235S	probably benign	Het
Cd96	A	G	16: 46,069,776		probably benign	Het
Celf1	A	T	2: 90,998,588	K27I	probably damaging	Het
Cfap65	A	T	1: 74,928,348	C190*	probably null	Het
Cib2	A	T	9: 54,549,886	H31Q	probably damaging	Het
Cyp3a59	T	C	5: 146,079,342	L3P	probably damaging	Het
Dnajc13	T	C	9: 104,162,359	M2104V	possibly damaging	Het
Dph3b-ps	A	G	13: 106,546,945		noncoding transcript	Het
Emb	A	G	13: 117,249,471		probably benign	Het
Fbn2	G	T	18: 58,103,995	N645K	possibly damaging	Het
Fes	T	C	7: 80,383,830		probably null	Het
Flnc	A	T	6: 29,438,493	K129*	probably null	Het
Gckr	C	A	5: 31,307,790	H368N	possibly damaging	Het
Gm5145	A	T	17: 20,570,440	I27F	probably damaging	Het
Hecw1	A	G	13: 14,248,338		probably null	Het
Hivep3	T	G	4: 120,123,025	C1753W	probably damaging	Het
Hook2	C	T	8: 84,994,985	Q291*	probably null	Het
Jakmip2	T	C	18: 43,547,127	T722A	possibly damaging	Het
Kcnt2	A	G	1: 140,351,269	I53V	probably benign	Het
Lipo2	A	G	19: 33,730,948	L222P	possibly damaging	Het
Mrc2	A	G	11: 105,325,721	D112G	probably damaging	Het
Mroh2b	A	G	15: 4,912,000	N338S	probably benign	Het
Mrpl23	T	A	7: 142,536,065		probably benign	Het
Myo18a	A	G	11: 77,850,247	N1442S	probably benign	Het
Ngdn	T	A	14: 55,021,936	V179E	probably damaging	Het
Nxn	A	G	11: 76,274,654		probably benign	Het
Olfr1349	T	A	7: 6,515,226	M68L	probably damaging	Het
Olfr1535	A	G	13: 21,555,602	L140P	probably damaging	Het
Osmr	A	T	15: 6,828,663	N441K	probably benign	Het
Plcb3	A	C	19: 6,958,178	L789R	probably damaging	Het
Plek	C	T	11: 16,981,846	R335H	probably damaging	Het
Pmp22	G	T	11: 63,158,308	V126F	probably benign	Het
Prom1	A	G	5: 44,029,604		probably benign	Het
Prss1	C	A	6: 41,463,205	Q159K	probably damaging	Het
Psd3	G	T	8: 67,963,869	H459N	probably benign	Het
Rusc2	T	G	4: 43,425,351	V1152G	possibly damaging	Het
Slc16a4	A	G	3: 107,303,099	I362V	probably benign	Het
Slc35e4	C	T	11: 3,912,640	R183Q	probably benign	Het
Spen	T	C	4: 141,477,579	T1246A	unknown	Het
Syt16	T	C	12: 74,266,842	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,652,428	V79A	possibly damaging	Het
Ttn	A	G	2: 76,709,619	V34341A	probably benign	Het
Wwox	T	C	8: 114,712,142	V316A	possibly damaging	Het

Other mutations in Slc22a22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Slc22a22	APN	15	57254278	missense	probably damaging	1.00
IGL01140:Slc22a22	APN	15	57263338	missense	probably damaging	1.00
IGL02357:Slc22a22	APN	15	57247448	missense	probably benign	0.16
IGL03115:Slc22a22	APN	15	57263274	missense	probably damaging	1.00
IGL03244:Slc22a22	APN	15	57249552	splice site	probably benign
IGL03384:Slc22a22	APN	15	57254216	missense	probably benign	0.01
R0371:Slc22a22	UTSW	15	57249735	missense	possibly damaging	0.82
R0501:Slc22a22	UTSW	15	57249650	missense	probably benign	0.16
R0684:Slc22a22	UTSW	15	57263362	missense	probably benign	0.04
R0722:Slc22a22	UTSW	15	57256553	splice site	probably null
R1240:Slc22a22	UTSW	15	57250872	missense	probably benign	0.02
R1472:Slc22a22	UTSW	15	57247520	missense	probably benign	0.03
R2040:Slc22a22	UTSW	15	57247540	nonsense	probably null
R2125:Slc22a22	UTSW	15	57254240	missense	probably damaging	1.00
R3707:Slc22a22	UTSW	15	57250973	missense	probably damaging	1.00
R3921:Slc22a22	UTSW	15	57256544	missense	probably benign	0.07
R4184:Slc22a22	UTSW	15	57256566	nonsense	probably null
R4561:Slc22a22	UTSW	15	57263385	missense	probably damaging	1.00
R4626:Slc22a22	UTSW	15	57263338	missense	probably damaging	1.00
R4887:Slc22a22	UTSW	15	57249752	missense	probably benign	0.20
R5181:Slc22a22	UTSW	15	57255123	missense	probably benign	0.08
R5486:Slc22a22	UTSW	15	57263451	missense	probably damaging	0.97
R5621:Slc22a22	UTSW	15	57259151	missense	probably benign	0.02
R5812:Slc22a22	UTSW	15	57256473	critical splice donor site	probably null
R5958:Slc22a22	UTSW	15	57263536	missense	possibly damaging	0.95
R6517:Slc22a22	UTSW	15	57250969	missense	probably benign	0.28
R6555:Slc22a22	UTSW	15	57259131	missense	probably benign	0.08
R6724:Slc22a22	UTSW	15	57247532	missense	probably damaging	1.00
R6744:Slc22a22	UTSW	15	57254272	missense	possibly damaging	0.46
R7078:Slc22a22	UTSW	15	57263480	missense	probably benign	0.01
R7085:Slc22a22	UTSW	15	57249649	missense	probably benign	0.00
R7263:Slc22a22	UTSW	15	57249711	missense	probably benign
R7335:Slc22a22	UTSW	15	57263375	missense	probably benign	0.19
R7859:Slc22a22	UTSW	15	57250952	missense	probably benign	0.02
R7871:Slc22a22	UTSW	15	57263355	missense	possibly damaging	0.86
R8297:Slc22a22	UTSW	15	57259110	missense	probably damaging	1.00
R8340:Slc22a22	UTSW	15	57263690	critical splice acceptor site	probably null
R8358:Slc22a22	UTSW	15	57244847	missense	probably damaging	1.00

Posted On

2015-04-16