Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00966:Slc6a21'

27899

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc6a21

Ensembl Gene

ENSMUSG00000070568

Gene Name

solute carrier family 6 member 21

Synonyms

1700039E15Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

IGL00966

Quality Score

Status

Chromosome

Chromosomal Location

45277513-45288998 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45288244 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 653 (T653M)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085364] [ENSMUST00000210861]

Predicted Effect

probably benign
Transcript: ENSMUST00000085364
AA Change: T328M

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000082476
Gene: ENSMUSG00000070568
AA Change: T328M

Domain	Start	End	E-Value	Type
Pfam:SNF	1	306	8.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176276
AA Change: T653M

PolyPhen 2 Score 0.310 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135707
Gene: ENSMUSG00000070568
AA Change: T653M

Domain	Start	End	E-Value	Type
Pfam:SNF	48	631	2e-103	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209886

Predicted Effect

probably benign
Transcript: ENSMUST00000210207

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210733

Predicted Effect

probably benign
Transcript: ENSMUST00000210861
AA Change: T653M

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	C	A	7: 29,537,463		noncoding transcript	Het
5430419D17Rik	T	A	7: 131,243,107	Y692*	probably null	Het
Acad11	A	G	9: 104,126,656	E649G	probably damaging	Het
Adgre1	C	A	17: 57,419,335	T402K	probably benign	Het
Agap3	A	G	5: 24,501,002		probably benign	Het
Amy1	T	C	3: 113,556,040	I494V	probably benign	Het
Arhgef40	G	A	14: 51,991,698		probably null	Het
Atp2c2	T	C	8: 119,745,590	V461A	probably benign	Het
Bub1	A	G	2: 127,810,663	S595P	probably damaging	Het
Cmya5	C	T	13: 93,097,906	V225I	probably benign	Het
Cnbd1	T	C	4: 18,906,988		probably benign	Het
Cux1	A	T	5: 136,311,491		probably benign	Het
Dsg3	T	A	18: 20,523,607	I178N	probably benign	Het
Dus2	T	A	8: 106,025,901		probably null	Het
Enpp1	G	A	10: 24,654,031	H570Y	probably damaging	Het
Ephb3	A	C	16: 21,217,294	T57P	probably benign	Het
Fat3	C	A	9: 15,999,094	V1871F	possibly damaging	Het
Fbll1	T	C	11: 35,798,047	T130A	probably benign	Het
Fbxl20	C	T	11: 98,110,974	S99N	probably damaging	Het
Folr2	T	C	7: 101,840,386	E182G	probably damaging	Het
Fras1	A	G	5: 96,555,221	D281G	probably benign	Het
Gm17175	G	T	14: 51,573,069	Q34K	possibly damaging	Het
Gm5592	T	A	7: 41,289,095	D600E	probably damaging	Het
Gtf2e1	T	C	16: 37,515,730	E294G	probably benign	Het
Gtf3c2	A	G	5: 31,170,173		probably benign	Het
Heg1	T	C	16: 33,710,607	L151P	probably damaging	Het
Hmcn2	T	G	2: 31,428,994	V3902G	probably damaging	Het
Ift140	A	G	17: 25,018,802	Y4C	probably damaging	Het
Ighv1-19	A	C	12: 114,708,949	V17G	possibly damaging	Het
Iqca	T	A	1: 90,045,657	I770F	probably benign	Het
Jak3	T	A	8: 71,679,012	C115S	probably benign	Het
Kif18b	A	T	11: 102,914,675	M252K	probably damaging	Het
Klhdc7a	A	T	4: 139,966,925	V237D	probably benign	Het
Klhl11	C	T	11: 100,463,205	V597I	possibly damaging	Het
Krt72	T	A	15: 101,780,961	Y312F	probably damaging	Het
Lonp2	T	A	8: 86,633,972	I191N	probably damaging	Het
Npc2	A	T	12: 84,772,845	I8N	possibly damaging	Het
Nr4a1	T	C	15: 101,272,788	L413P	probably damaging	Het
Nup133	T	C	8: 123,911,906	N895S	probably damaging	Het
Olfr869	T	C	9: 20,137,235	F40L	probably benign	Het
Ppef1	A	G	X: 160,685,294	I94T	probably benign	Het
Prrt4	G	A	6: 29,176,456	T290I	probably benign	Het
Ptpru	A	T	4: 131,772,616	V1239E	probably damaging	Het
Rab8b	T	G	9: 66,852,992	M117L	probably benign	Het
S1pr5	T	A	9: 21,244,216	I305F	possibly damaging	Het
Sdr39u1	A	G	14: 55,898,006	V160A	probably damaging	Het
Stk39	T	A	2: 68,211,958	E544D	probably benign	Het
Tgfbr3	T	C	5: 107,142,501	T313A	probably benign	Het
Tle6	A	T	10: 81,594,458	L287M	probably damaging	Het
Tmc2	A	G	2: 130,264,012	H821R	probably benign	Het
Tmem230	G	T	2: 132,245,977	D26E	probably benign	Het
Tnfaip3	A	G	10: 19,005,137	F394S	probably damaging	Het
Ttn	T	A	2: 76,811,377	L13458F	probably damaging	Het
Vwa5a	A	T	9: 38,723,379	N161I	probably benign	Het

Other mutations in Slc6a21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01526:Slc6a21	APN	7	45287796	missense	probably damaging	1.00
IGL01670:Slc6a21	APN	7	45288133	missense	possibly damaging	0.91
IGL01975:Slc6a21	APN	7	45287851	missense	probably benign	0.28
IGL02064:Slc6a21	APN	7	45286459	missense	possibly damaging	0.71
IGL02441:Slc6a21	APN	7	45288081	missense	probably damaging	1.00
IGL02735:Slc6a21	APN	7	45286637	splice site	probably benign
IGL03097:Slc6a21	UTSW	7	45288168	nonsense	probably null
R0211:Slc6a21	UTSW	7	45288243	missense	possibly damaging	0.90
R0211:Slc6a21	UTSW	7	45288243	missense	possibly damaging	0.90
R0269:Slc6a21	UTSW	7	45286908	nonsense	probably null
R0336:Slc6a21	UTSW	7	45286468	missense	probably damaging	1.00
R1077:Slc6a21	UTSW	7	45288202	missense	probably benign	0.42
R1476:Slc6a21	UTSW	7	45272628	missense	probably benign	0.09
R1763:Slc6a21	UTSW	7	45287734	nonsense	probably null
R1792:Slc6a21	UTSW	7	45280731	missense	probably benign	0.04
R1796:Slc6a21	UTSW	7	45280755	missense	probably damaging	1.00
R1812:Slc6a21	UTSW	7	45282947	missense	probably damaging	1.00
R1868:Slc6a21	UTSW	7	45287828	missense	probably benign	0.13
R2121:Slc6a21	UTSW	7	45288462	missense	probably benign	0.04
R2129:Slc6a21	UTSW	7	45282773	splice site	probably null
R2294:Slc6a21	UTSW	7	45280528	missense	possibly damaging	0.83
R2295:Slc6a21	UTSW	7	45280528	missense	possibly damaging	0.83
R2409:Slc6a21	UTSW	7	45280326	missense	probably benign	0.15
R2858:Slc6a21	UTSW	7	45280528	missense	possibly damaging	0.83
R3498:Slc6a21	UTSW	7	45280842	missense	probably damaging	1.00
R3751:Slc6a21	UTSW	7	45280504	missense	probably benign
R4297:Slc6a21	UTSW	7	45287762	missense	possibly damaging	0.95
R4510:Slc6a21	UTSW	7	45287289	missense	probably damaging	1.00
R4511:Slc6a21	UTSW	7	45287289	missense	probably damaging	1.00
R4876:Slc6a21	UTSW	7	45280111	nonsense	probably null
R4921:Slc6a21	UTSW	7	45288310	missense	possibly damaging	0.53
R5485:Slc6a21	UTSW	7	45282542	critical splice donor site	probably null
R5559:Slc6a21	UTSW	7	45288429	missense	possibly damaging	0.61
R6305:Slc6a21	UTSW	7	45280604	missense	possibly damaging	0.88
R6390:Slc6a21	UTSW	7	45287002	missense	probably benign	0.02
R6571:Slc6a21	UTSW	7	45280879	missense	probably damaging	0.99
R6792:Slc6a21	UTSW	7	45279885	start codon destroyed	probably null	0.02
R7235:Slc6a21	UTSW	7	45280758	missense	probably damaging	0.99
R7278:Slc6a21	UTSW	7	45282480	missense	possibly damaging	0.84
R7808:Slc6a21	UTSW	7	45282936	missense

Posted On

2013-04-17