Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03097:Slc6a21'

453213

Institutional Source

Beutler Lab

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: 0.060) question?

Stock #

IGL03097 (G1)

Quality Score

120

Status

Validated

Chromosome

Chromosomal Location

45277513-45288998 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 45288168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 628 (Q628*)

Ref Sequence

ENSEMBL: ENSMUSP00000147890 (fasta)

Gene Model

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

AlphaFold

A0A1B0GSD2

Predicted Effect

probably null
Transcript: ENSMUST00000085364
AA Change: Q303*

SMART Domains

Protein: ENSMUSP00000082476
Gene: ENSMUSG00000070568
AA Change: Q303*

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

Predicted Effect

probably null
Transcript: ENSMUST00000176276
AA Change: Q628*

SMART Domains

Protein: ENSMUSP00000135707
Gene: ENSMUSG00000070568
AA Change: Q628*

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

Predicted Effect

probably null
Transcript: ENSMUST00000176985
AA Change: Q237*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209886

Predicted Effect

unknown
Transcript: ENSMUST00000210207
AA Change: A315V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210733

Predicted Effect

probably null
Transcript: ENSMUST00000210861
AA Change: Q628*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

90% (46/51)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 53,690,895		noncoding transcript	Het
Adcy9	T	C	16: 4,418,066	T257A	possibly damaging	Het
Ahnak	A	G	19: 9,002,387	D345G	probably benign	Het
Ak5	A	G	3: 152,660,514		probably null	Het
Akap3	A	G	6: 126,866,416	K666R	probably damaging	Het
Alpk3	A	G	7: 81,093,909	N1158S	probably benign	Het
Atp23	A	T	10: 126,887,687	V182E	probably damaging	Het
Atp4a	A	G	7: 30,723,037	D898G	probably benign	Het
Bnip3	T	C	7: 138,894,479	N140S	probably damaging	Het
Bptf	T	C	11: 107,077,680	Y1059C	probably damaging	Het
Cacna1h	A	T	17: 25,391,144	I796N	probably damaging	Het
Ccnb2	A	G	9: 70,409,396		probably benign	Het
Cd3g	T	A	9: 44,970,763	D165V	probably damaging	Het
Cfap70	T	C	14: 20,448,608	T4A	probably benign	Het
Cilp	TGGG	TGG	9: 65,280,130		probably null	Het
Cntn4	C	T	6: 106,353,712	T97M	probably benign	Het
Crb1	CG	C	1: 139,237,086		probably null	Het
Crim1	C	T	17: 78,367,798	T812I	probably benign	Het
Csmd1	G	T	8: 15,945,127	T2636K	probably damaging	Het
Cyp39a1	T	A	17: 43,683,050	Y200*	probably null	Het
Dlg4	T	G	11: 70,042,202	I478S	probably damaging	Het
Dsc3	A	T	18: 19,974,048	N505K	probably benign	Het
Efhc1	T	C	1: 20,972,825	W323R	probably damaging	Het
Ehhadh	T	A	16: 21,762,770	I491L	probably benign	Het
Ggt6	T	G	11: 72,436,813	H148Q	possibly damaging	Het
Gstm3	T	C	3: 107,968,801	D25G	probably benign	Het
Gtf2h3	G	A	5: 124,602,168		probably benign	Het
Hjurp	TGGG	TTGCGGG	1: 88,266,280		probably benign	Het
Hnf4g	A	C	3: 3,651,614	E281A	probably damaging	Het
Impg1	T	G	9: 80,379,952	E404A	possibly damaging	Het
Kcna2	T	C	3: 107,105,399	V432A	probably benign	Het
Map3k2	T	G	18: 32,200,017	D81E	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mmp9	T	A	2: 164,950,806		probably null	Het
Mroh2a	G	A	1: 88,235,376	R376H	probably benign	Het
Ms4a1	G	T	19: 11,253,192	T215N	probably benign	Het
Pam16	T	C	16: 4,616,594	I111V	probably benign	Het
Pde6c	A	G	19: 38,178,271	T720A	probably damaging	Het
Pgap2	T	C	7: 102,236,227	L100P	probably damaging	Het
Ppl	T	A	16: 5,096,726	S686C	probably damaging	Het
Rnls	A	G	19: 33,138,279		probably benign	Het
Robo3	A	C	9: 37,422,528		probably null	Het
Rptn	G	A	3: 93,397,373	G671D	probably damaging	Het
Smg6	T	G	11: 74,932,426	I708S	probably damaging	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
Thap1	C	G	8: 26,162,470	P79A	probably benign	Het
Vmn1r202	G	A	13: 22,501,470	T259I	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTCCTACCCTCAGAGACCTG -3'
(R):5'- GGGGACTCTTGCTTTGGAATAAAG -3'

Sequencing Primer
(F):5'- TACCCTCAGAGACCTGGAGAC -3'
(R):5'- AGCCTTGCTTTTCTCCTGATTTCG -3'

Posted On

2017-01-31