Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03008:Slc22a27'

407672

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc22a27

Ensembl Gene

ENSMUSG00000067656

Gene Name

solute carrier family 22, member 27

Synonyms

mOAT6 related protein, AB056442

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL03008

Quality Score

Status

Chromosome

Chromosomal Location

7864388-7966027 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7909702 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 274 (I274T)

Ref Sequence

ENSEMBL: ENSMUSP00000093991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075619] [ENSMUST00000182102]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075619
AA Change: I274T

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093991
Gene: ENSMUSG00000067656
AA Change: I274T

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	99	528	1.5e-25	PFAM
Pfam:MFS_1	140	372	1.3e-15	PFAM
Pfam:MFS_1	349	549	8.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182102

SMART Domains

Protein: ENSMUSP00000138475
Gene: ENSMUSG00000067656

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:MFS_1	241	441	1.2e-11	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830010M20Rik	T	G	5: 107,491,598		probably null	Het
AF529169	A	G	9: 89,596,678	Y772H	probably damaging	Het
Aga	T	C	8: 53,511,826	S8P	probably benign	Het
Ankrd34c	C	T	9: 89,730,284	M1I	probably null	Het
Ankrd44	T	C	1: 54,766,809	H146R	probably damaging	Het
Bst1	A	G	5: 43,826,262		probably null	Het
Cdh12	A	T	15: 21,480,330	I211F	probably damaging	Het
Cenpj	G	T	14: 56,526,949	D1335E	probably benign	Het
Clpx	G	A	9: 65,322,775	V502I	possibly damaging	Het
Cntnap4	T	C	8: 112,773,590	S505P	probably benign	Het
Cog2	T	C	8: 124,535,392		probably benign	Het
Cped1	A	G	6: 22,233,602	Q819R	probably benign	Het
Cspg4	A	G	9: 56,898,475	E2190G	possibly damaging	Het
Ctsa	G	A	2: 164,837,448	R359Q	probably damaging	Het
Cul9	A	G	17: 46,502,697		probably benign	Het
Dab1	G	T	4: 104,727,580	V306F	probably damaging	Het
Dysf	A	G	6: 84,073,894	I438V	probably benign	Het
Eif4g3	G	T	4: 138,120,388	G380W	probably damaging	Het
Exd1	T	A	2: 119,520,381	K466N	probably benign	Het
Eya3	A	C	4: 132,706,983	D325A	probably damaging	Het
Fmn1	A	G	2: 113,365,100	T382A	unknown	Het
Fry	T	A	5: 150,345,556	D106E	possibly damaging	Het
Gm21957	T	A	7: 125,219,561		noncoding transcript	Het
Gm44511	A	G	6: 128,784,096		probably benign	Het
Gm884	T	C	11: 103,620,467	E225G	unknown	Het
Itga4	A	G	2: 79,325,638	I983V	probably benign	Het
Lrpprc	A	T	17: 84,751,247	D5E	probably benign	Het
Ltbp4	G	T	7: 27,324,364	N747K	probably damaging	Het
Mlh3	T	C	12: 85,240,851	Q1308R	probably benign	Het
Mtfr2	T	A	10: 20,353,439	C63S	possibly damaging	Het
Myh11	T	A	16: 14,204,753	M1661L	probably benign	Het
Myo1c	T	C	11: 75,658,414	M137T	probably benign	Het
Myocd	A	C	11: 65,187,566	L340V	probably damaging	Het
Napsa	A	T	7: 44,585,796	Q335L	possibly damaging	Het
Nlrp4b	C	A	7: 10,714,589	Q240K	probably benign	Het
Npepps	A	C	11: 97,238,158	F400C	probably damaging	Het
Nxpe4	A	T	9: 48,393,438	E275V	probably benign	Het
Ofd1	T	C	X: 166,409,534	D501G	probably benign	Het
Olfr1310	A	G	2: 112,008,523	I221T	possibly damaging	Het
Olfr228	A	T	2: 86,483,334	M136K	probably damaging	Het
Olfr507	T	G	7: 108,622,283	L157R	probably damaging	Het
Olfr525	T	C	7: 140,323,532	Y278H	probably damaging	Het
P2ry1	A	T	3: 61,003,526	T29S	probably benign	Het
Papss1	T	C	3: 131,585,099	V201A	possibly damaging	Het
Paxip1	A	G	5: 27,752,766	V864A	probably benign	Het
Pcdhgc5	T	A	18: 37,821,834	H720Q	probably benign	Het
Pdxdc1	T	C	16: 13,876,159	N133S	possibly damaging	Het
Prkar1a	T	C	11: 109,653,864	I27T	probably damaging	Het
Rnf10	G	T	5: 115,251,296	H271N	possibly damaging	Het
Scn9a	A	G	2: 66,562,511	S246P	probably damaging	Het
Sertad2	G	T	11: 20,647,798		probably benign	Het
Slc22a5	A	T	11: 53,891,232	V103E	probably damaging	Het
Slc5a9	A	T	4: 111,890,941	F225I	probably benign	Het
Slc6a3	G	A	13: 73,558,285		probably null	Het
Smcr8	A	G	11: 60,778,461	E145G	probably damaging	Het
Spen	A	T	4: 141,476,137	D1726E	possibly damaging	Het
Sphkap	A	T	1: 83,276,831	S779T	probably damaging	Het
Stag1	A	T	9: 100,776,791	N144Y	probably damaging	Het
Strada	T	C	11: 106,170,957	H156R	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tas2r138	A	C	6: 40,613,182	D43E	probably damaging	Het
Tdpoz3	A	T	3: 93,826,335	K106*	probably null	Het
Trbv13-1	A	G	6: 41,116,295	D54G	probably damaging	Het
Ttc39b	A	G	4: 83,247,695	V218A	probably benign	Het
Ttn	G	A	2: 76,780,859	T15697I	probably damaging	Het
Ugt2b38	G	A	5: 87,412,423	T344I	probably benign	Het
Vmn2r94	T	C	17: 18,257,646	M168V	probably benign	Het
Wdr11	T	C	7: 129,606,991		probably benign	Het
Wipf2	T	C	11: 98,892,728		probably benign	Het
Zranb2	T	A	3: 157,546,665		probably null	Het

Other mutations in Slc22a27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01994:Slc22a27	APN	19	7909743	missense	possibly damaging	0.93
IGL02516:Slc22a27	APN	19	7864811	missense	probably damaging	0.99
IGL02961:Slc22a27	APN	19	7926521	missense	probably damaging	0.99
PIT4544001:Slc22a27	UTSW	19	7909738	missense	probably damaging	1.00
R0172:Slc22a27	UTSW	19	7865836	nonsense	probably null
R0234:Slc22a27	UTSW	19	7926791	start gained	probably benign
R0234:Slc22a27	UTSW	19	7926791	start gained	probably benign
R0280:Slc22a27	UTSW	19	7896822	nonsense	probably null
R0561:Slc22a27	UTSW	19	7880162	critical splice donor site	probably null
R0597:Slc22a27	UTSW	19	7865884	missense	probably benign	0.00
R1005:Slc22a27	UTSW	19	7926751	missense	probably damaging	1.00
R1165:Slc22a27	UTSW	19	7909694	intron	probably null
R1217:Slc22a27	UTSW	19	7926668	missense	probably benign	0.01
R1533:Slc22a27	UTSW	19	7866983	missense	possibly damaging	0.79
R1940:Slc22a27	UTSW	19	7909727	missense	probably damaging	1.00
R3714:Slc22a27	UTSW	19	7926450	missense	possibly damaging	0.75
R3959:Slc22a27	UTSW	19	7910049	missense	probably damaging	1.00
R4059:Slc22a27	UTSW	19	7879608	splice site	probably benign
R4249:Slc22a27	UTSW	19	7925879	missense	possibly damaging	0.64
R4748:Slc22a27	UTSW	19	7925876	missense	probably benign
R5220:Slc22a27	UTSW	19	7865938	missense	probably damaging	0.96
R5221:Slc22a27	UTSW	19	7865938	missense	probably damaging	0.96
R5232:Slc22a27	UTSW	19	7865938	missense	probably damaging	0.96
R5330:Slc22a27	UTSW	19	7879455	missense	probably benign	0.13
R5331:Slc22a27	UTSW	19	7879455	missense	probably benign	0.13
R5345:Slc22a27	UTSW	19	7865938	missense	probably damaging	0.96
R5427:Slc22a27	UTSW	19	7879388	critical splice donor site	probably null
R5534:Slc22a27	UTSW	19	7926631	missense	probably damaging	1.00
R5691:Slc22a27	UTSW	19	7926670	missense	possibly damaging	0.90
R5828:Slc22a27	UTSW	19	7926402	missense	probably damaging	1.00
R5878:Slc22a27	UTSW	19	7926757	missense	probably benign	0.01
R5918:Slc22a27	UTSW	19	7910046	missense	possibly damaging	0.91
R6185:Slc22a27	UTSW	19	7926588	missense	probably benign	0.14
R6901:Slc22a27	UTSW	19	7926579	missense	probably damaging	1.00
R7139:Slc22a27	UTSW	19	7926547	missense	probably damaging	1.00
R7336:Slc22a27	UTSW	19	7926689	missense	probably benign	0.02
R7502:Slc22a27	UTSW	19	7926382	missense	probably damaging	1.00
R7556:Slc22a27	UTSW	19	7865754	missense	probably damaging	0.98
R7737:Slc22a27	UTSW	19	7896762	missense	probably damaging	0.99
R7860:Slc22a27	UTSW	19	7910107	critical splice acceptor site	probably null
R7943:Slc22a27	UTSW	19	7910107	critical splice acceptor site	probably null
R8050:Slc22a27	UTSW	19	7880167	missense	probably benign	0.18
RF012:Slc22a27	UTSW	19	7926584	missense	probably benign	0.07
Z1177:Slc22a27	UTSW	19	7909730	missense	probably benign	0.00

Posted On

2016-08-02