Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02064:Slc6a21'

185563

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

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL02064

Quality Score

Status

Chromosome

Chromosomal Location

45277513-45288998 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45286459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 38 (I38N)

Ref Sequence

ENSEMBL: ENSMUSP00000082476 (fasta)

Gene Model

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

AlphaFold

A0A1B0GSD2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085364
AA Change: I38N

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000082476
Gene: ENSMUSG00000070568
AA Change: I38N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176276
AA Change: I363N

PolyPhen 2 Score 0.490 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135707
Gene: ENSMUSG00000070568
AA Change: I363N

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

unknown
Transcript: ENSMUST00000210207
AA Change: I70N

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210733

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210861
AA Change: I363N

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732456N10Rik	T	C	15: 101,562,653	H58R	possibly damaging	Het
Acap2	A	C	16: 31,127,328	W284G	probably damaging	Het
Acsf3	T	C	8: 122,780,247	L93P	possibly damaging	Het
Agbl2	G	T	2: 90,784,024		probably benign	Het
Arap3	C	T	18: 37,991,701	G242D	probably damaging	Het
Asxl3	G	A	18: 22,524,344	V1804I	possibly damaging	Het
BC025446	A	G	15: 75,221,656		probably benign	Het
Bnc1	C	A	7: 81,973,503	V659L	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Car9	A	G	4: 43,507,363	E103G	probably benign	Het
Chrm4	A	G	2: 91,927,831	T195A	probably damaging	Het
Cldn10	T	C	14: 118,855,012	I8T	probably damaging	Het
Col12a1	G	A	9: 79,692,372	S833F	probably benign	Het
Cryba2	T	A	1: 74,890,561	D139V	possibly damaging	Het
Emp1	T	A	6: 135,377,212	M1K	probably null	Het
Exosc4	C	A	15: 76,329,636	A220E	probably damaging	Het
Fam189b	C	T	3: 89,188,596	R545*	probably null	Het
Fryl	A	G	5: 73,124,769		probably benign	Het
Gm8298	T	C	3: 59,877,042	L312P	probably damaging	Het
Grid2	C	T	6: 64,063,935	T287I	probably benign	Het
Grifin	C	T	5: 140,564,739	A7T	probably damaging	Het
Gzmg	T	C	14: 56,157,341	K157E	probably benign	Het
Kcnq2	A	T	2: 181,109,026	I340N	probably damaging	Het
Klrb1	T	A	6: 128,710,637	H98L	probably benign	Het
Krtap5-2	C	A	7: 142,175,731	G71C	unknown	Het
Krtap7-1	A	T	16: 89,508,123	M47K	probably benign	Het
Lmntd1	T	A	6: 145,427,276		probably null	Het
Musk	A	G	4: 58,286,128	N6S	possibly damaging	Het
Olfr169	A	G	16: 19,566,548	C112R	probably damaging	Het
Olfr33	A	G	7: 102,713,601	F271L	probably damaging	Het
Olfr482	T	G	7: 108,095,247	T108P	probably benign	Het
Olfr682-ps1	A	T	7: 105,127,034	F89Y	possibly damaging	Het
Olfr893	T	A	9: 38,209,578	I122N	probably damaging	Het
Pcdh19	A	G	X: 133,685,970	M432T	probably benign	Het
Prdm1	A	G	10: 44,441,342	F495S	probably damaging	Het
Prkar2a	T	C	9: 108,733,204	Y211H	possibly damaging	Het
Ralgapa1	C	A	12: 55,708,077	G1143V	probably damaging	Het
Rbbp7	A	G	X: 162,769,787		probably null	Het
Scel	C	A	14: 103,533,326	H65Q	probably damaging	Het
Sec24d	T	C	3: 123,343,814		probably benign	Het
Sfswap	C	A	5: 129,560,796	T839N	probably benign	Het
Slc15a1	G	T	14: 121,462,474	P644H	probably benign	Het
Slc15a1	T	C	14: 121,462,499	I636V	possibly damaging	Het
Sucla2	C	T	14: 73,579,473	Q218*	probably null	Het
Tbc1d14	A	T	5: 36,507,675	L237*	probably null	Het
Trpm7	C	T	2: 126,797,943	E1578K	probably damaging	Het
Ttc17	G	A	2: 94,330,667	T896I	probably damaging	Het
Virma	A	G	4: 11,513,163	D339G	possibly damaging	Het
Vmn2r54	T	A	7: 12,615,606	Y683F	probably benign	Het
Xrra1	T	A	7: 99,914,204	L466Q	probably damaging	Het

Other mutations in Slc6a21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Slc6a21	APN	7	45288244	missense	probably benign	0.31
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
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
R9047:Slc6a21	UTSW	7	45286974	missense
R9127:Slc6a21	UTSW	7	45280250	splice site	probably benign
R9299:Slc6a21	UTSW	7	45287706	missense
R9524:Slc6a21	UTSW	7	45288361	missense	probably benign
R9640:Slc6a21	UTSW	7	45287765	missense
R9748:Slc6a21	UTSW	7	45280517	missense	probably damaging	1.00

Posted On

2014-05-07