Mutagenetix > Incidental Mutation

Incidental Mutation 'R8017:Slc6a20a'

628817

Institutional Source

Beutler Lab

Gene Symbol

Slc6a20a

Ensembl Gene

ENSMUSG00000036814

Gene Name

solute carrier family 6 (neurotransmitter transporter), member 20A

Synonyms

Xtrp3s1, A730081N20Rik

MMRRC Submission

067457-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8017 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123465972-123507897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123466917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 524 (Y524H)

Ref Sequence

ENSEMBL: ENSMUSP00000047690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040960] [ENSMUST00000171647]

AlphaFold

Q8VDB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040960
AA Change: Y524H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047690
Gene: ENSMUSG00000036814
AA Change: Y524H

Domain	Start	End	E-Value	Type
Pfam:SNF	5	581	1.7e-177	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171647
AA Change: Y487H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129107
Gene: ENSMUSG00000036814
AA Change: Y487H

Domain	Start	End	E-Value	Type
Pfam:SNF	5	196	3.3e-72	PFAM
Pfam:SNF	194	544	8.4e-85	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl- coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	G	T	4: 124,744,469 (GRCm39)	A51E	unknown	Het
A2ml1	C	T	6: 128,558,410 (GRCm39)		probably null	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Bnc2	A	G	4: 84,329,662 (GRCm39)	L118P		Het
Ccdc18	T	A	5: 108,376,511 (GRCm39)	Y1317*	probably null	Het
Ccdc93	C	T	1: 121,375,993 (GRCm39)	T168M	probably damaging	Het
Cd109	G	T	9: 78,614,828 (GRCm39)	D1292Y	possibly damaging	Het
Cdh24	G	T	14: 54,876,089 (GRCm39)	N184K	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Cspg4b	T	A	13: 113,456,157 (GRCm39)	S734R		Het
Efemp2	T	A	19: 5,527,708 (GRCm39)	C181*	probably null	Het
Eftud2	A	G	11: 102,734,174 (GRCm39)		probably null	Het
Elp2	G	A	18: 24,739,920 (GRCm39)	V49M	possibly damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Exph5	G	A	9: 53,284,752 (GRCm39)	C611Y	probably benign	Het
Gm9376	T	G	14: 118,504,951 (GRCm39)	Y128D	probably damaging	Het
Gsdmc2	T	A	15: 63,698,762 (GRCm39)	N278I	probably benign	Het
Hace1	C	T	10: 45,514,478 (GRCm39)	T199M	probably damaging	Het
Hivep1	T	C	13: 42,321,098 (GRCm39)	V44A		Het
Homez	A	C	14: 55,095,689 (GRCm39)	D6E	probably benign	Het
Ighv5-12	A	T	12: 113,665,792 (GRCm39)	M102K	probably damaging	Het
Jup	T	C	11: 100,265,023 (GRCm39)	T643A	probably benign	Het
Krt4	T	A	15: 101,828,722 (GRCm39)	I381F	probably damaging	Het
Krt6a	A	G	15: 101,602,304 (GRCm39)	V127A	probably damaging	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Mtfr2	A	T	10: 20,229,900 (GRCm39)	N153Y	probably damaging	Het
Npas3	G	A	12: 54,091,462 (GRCm39)	V339I	probably damaging	Het
Nsun2	C	T	13: 69,775,764 (GRCm39)	R438C	probably damaging	Het
Oga	A	T	19: 45,762,107 (GRCm39)	W249R	probably damaging	Het
Or4c1	T	A	2: 89,133,595 (GRCm39)	I114F	possibly damaging	Het
Or4k47	A	C	2: 111,452,412 (GRCm39)	D2E	probably benign	Het
Or5w16	T	A	2: 87,577,392 (GRCm39)	M284K	probably damaging	Het
Pdzd2	T	C	15: 12,373,122 (GRCm39)	R2338G	probably damaging	Het
Pgm1	A	G	4: 99,843,875 (GRCm39)	M553V	probably benign	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Ppp2r5e	A	G	12: 75,511,703 (GRCm39)	I340T	probably damaging	Het
Qprt	C	A	7: 126,707,996 (GRCm39)	R145L	probably damaging	Het
Sertad4	T	C	1: 192,528,829 (GRCm39)	D329G	probably benign	Het
Setd2	C	T	9: 110,431,255 (GRCm39)	T583M		Het
Slc12a7	T	C	13: 73,947,839 (GRCm39)	I652T	probably damaging	Het
Slc27a5	T	C	7: 12,723,329 (GRCm39)	D539G	probably damaging	Het
Slc36a2	A	G	11: 55,055,095 (GRCm39)	I320T	probably benign	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Stag3	T	C	5: 138,299,465 (GRCm39)	M828T	possibly damaging	Het
Stk36	T	C	1: 74,651,925 (GRCm39)	V406A	probably benign	Het
Svep1	G	T	4: 58,146,637 (GRCm39)	P335Q	probably damaging	Het
Svs5	T	A	2: 164,175,341 (GRCm39)	S64R	possibly damaging	Het
Taf2	A	G	15: 54,928,013 (GRCm39)	V130A	possibly damaging	Het
Tbrg4	C	T	11: 6,568,517 (GRCm39)	V421M	probably damaging	Het
Tbx4	G	T	11: 85,804,986 (GRCm39)	K358N	probably damaging	Het
Tenm4	A	T	7: 96,353,248 (GRCm39)	T384S	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Zfp574	T	A	7: 24,780,095 (GRCm39)	C372*	probably null	Het

Other mutations in Slc6a20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02097:Slc6a20a	APN	9	123,489,684 (GRCm39)	missense	possibly damaging	0.95
eyeful	UTSW	9	123,466,135 (GRCm39)	missense	probably damaging	1.00
R0115:Slc6a20a	UTSW	9	123,507,823 (GRCm39)	missense	possibly damaging	0.84
R0255:Slc6a20a	UTSW	9	123,493,686 (GRCm39)	missense	probably damaging	1.00
R0512:Slc6a20a	UTSW	9	123,489,471 (GRCm39)	missense	probably damaging	1.00
R1744:Slc6a20a	UTSW	9	123,492,058 (GRCm39)	missense	probably benign	0.01
R1751:Slc6a20a	UTSW	9	123,466,165 (GRCm39)	missense	probably damaging	1.00
R1767:Slc6a20a	UTSW	9	123,466,165 (GRCm39)	missense	probably damaging	1.00
R1908:Slc6a20a	UTSW	9	123,485,373 (GRCm39)	missense	probably damaging	1.00
R1983:Slc6a20a	UTSW	9	123,469,652 (GRCm39)	missense	probably damaging	1.00
R2391:Slc6a20a	UTSW	9	123,493,686 (GRCm39)	missense	probably damaging	1.00
R3107:Slc6a20a	UTSW	9	123,470,773 (GRCm39)	critical splice donor site	probably null
R3547:Slc6a20a	UTSW	9	123,489,567 (GRCm39)	missense	probably damaging	1.00
R3760:Slc6a20a	UTSW	9	123,492,054 (GRCm39)	missense	probably damaging	0.99
R4126:Slc6a20a	UTSW	9	123,489,598 (GRCm39)	missense	probably damaging	1.00
R5584:Slc6a20a	UTSW	9	123,469,753 (GRCm39)	missense	probably damaging	1.00
R5881:Slc6a20a	UTSW	9	123,470,773 (GRCm39)	critical splice donor site	probably null
R6749:Slc6a20a	UTSW	9	123,466,135 (GRCm39)	missense	probably damaging	1.00
R7447:Slc6a20a	UTSW	9	123,485,289 (GRCm39)	missense	possibly damaging	0.47
R7687:Slc6a20a	UTSW	9	123,485,331 (GRCm39)	missense	probably damaging	1.00
R8017:Slc6a20a	UTSW	9	123,493,639 (GRCm39)	missense	probably damaging	1.00
R8019:Slc6a20a	UTSW	9	123,493,639 (GRCm39)	missense	probably damaging	1.00
R8019:Slc6a20a	UTSW	9	123,466,917 (GRCm39)	missense	probably damaging	1.00
R8023:Slc6a20a	UTSW	9	123,489,657 (GRCm39)	missense	probably damaging	1.00
R8145:Slc6a20a	UTSW	9	123,466,065 (GRCm39)	missense	probably damaging	1.00
R9082:Slc6a20a	UTSW	9	123,507,832 (GRCm39)	missense	possibly damaging	0.88
R9130:Slc6a20a	UTSW	9	123,469,631 (GRCm39)	critical splice donor site	probably null
R9131:Slc6a20a	UTSW	9	123,466,063 (GRCm39)	makesense	probably null
R9249:Slc6a20a	UTSW	9	123,507,941 (GRCm39)	unclassified	probably benign
R9394:Slc6a20a	UTSW	9	123,507,805 (GRCm39)	missense	probably damaging	1.00
R9701:Slc6a20a	UTSW	9	123,489,585 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATGTTGATGAAGCTCCCATG -3'
(R):5'- CATCTTCCTAAGTGCAGAGGG -3'

Sequencing Primer
(F):5'- GATGAAGCTCCCATGCTATCTG -3'
(R):5'- CTTCCTAAGTGCAGAGGGTATGGATC -3'

Posted On

2020-06-30