Mutagenetix > Incidental Mutation

Incidental Mutation 'R7687:Slc6a20a'

593157

Institutional Source

Beutler Lab

Gene Symbol

Slc6a20a

Ensembl Gene

ENSMUSG00000036814

Gene Name

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

Synonyms

Xtrp3s1, A730081N20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123634770-123678885 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123656266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 297 (I297T)

Ref Sequence

ENSEMBL: ENSMUSP00000047690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040960] [ENSMUST00000170591] [ENSMUST00000171647]

AlphaFold

Q8VDB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040960
AA Change: I297T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047690
Gene: ENSMUSG00000036814
AA Change: I297T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170591

SMART Domains

Protein: ENSMUSP00000132700
Gene: ENSMUSG00000036814

Domain	Start	End	E-Value	Type
Pfam:SNF	1	37	5.1e-13	PFAM
Pfam:SNF	33	241	3.5e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171647
AA Change: I260T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129107
Gene: ENSMUSG00000036814
AA Change: I260T

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,258,182	K2383R	probably benign	Het
Acly	C	T	11: 100,504,854		probably null	Het
Baiap3	T	A	17: 25,249,337	I276F	possibly damaging	Het
Cdc14b	A	T	13: 64,209,193	D419E	probably benign	Het
Celsr2	G	T	3: 108,397,769	P2165T	probably benign	Het
Clk4	A	G	11: 51,281,398	D476G	probably benign	Het
Dera	A	G	6: 137,836,880	T10A		Het
Dip2c	A	T	13: 9,604,581	T742S	probably benign	Het
Dohh	C	A	10: 81,387,806	A231E	probably benign	Het
Dot1l	T	G	10: 80,789,368	S1150A	possibly damaging	Het
Eea1	T	A	10: 96,026,598	I794N	probably benign	Het
En2	T	C	5: 28,170,289	S277P	probably damaging	Het
Erich1	A	G	8: 14,030,691	L276P	probably damaging	Het
Flnb	A	G	14: 7,924,224	N1779S	probably damaging	Het
Frzb	T	A	2: 80,424,635	T186S	probably benign	Het
Gdf7	T	A	12: 8,298,257	R347*	probably null	Het
Ighv9-4	T	C	12: 114,300,263	I17V	not run	Het
Ipo13	G	A	4: 117,911,891	P235S	probably benign	Het
Itga2	C	A	13: 114,866,260	G565C	probably damaging	Het
Kcnc4	CCCGCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGCCGCCGCCGC	3: 107,458,609		probably benign	Het
Kcnk10	A	G	12: 98,435,096	I440T	probably damaging	Het
Kdm3a	T	A	6: 71,599,492	K779N	possibly damaging	Het
Kmt2d	C	T	15: 98,862,120	D1086N	unknown	Het
Kntc1	A	G	5: 123,759,089	I172V	probably benign	Het
Maip1	A	G	1: 57,411,844	E215G	probably damaging	Het
Mms19	A	T	19: 41,955,168	M417K	possibly damaging	Het
Mslnl	T	C	17: 25,743,183	V185A	probably damaging	Het
Naa11	A	T	5: 97,391,789	V170E	probably benign	Het
Ncapg	C	T	5: 45,699,885	P980S	probably benign	Het
Olfr170	T	C	16: 19,605,735	N310S	probably benign	Het
Pbxip1	A	G	3: 89,448,199	D675G	probably damaging	Het
Pdlim5	A	G	3: 142,277,847	S382P	probably benign	Het
Pkd1l1	T	A	11: 8,854,390	I2184F		Het
Plau	A	G	14: 20,839,798	Y237C	probably damaging	Het
Ppl	T	C	16: 5,097,942	T586A	probably benign	Het
Rapgef6	T	G	11: 54,661,075	I923S	possibly damaging	Het
Rbfox2	C	T	15: 77,306,494	G17D	unknown	Het
Sema3b	T	C	9: 107,603,814	D108G	probably damaging	Het
Slit1	A	G	19: 41,650,689	F261L	probably benign	Het
Tcp10a	T	A	17: 7,345,108	V433D	probably damaging	Het
Tktl2	A	G	8: 66,513,101	E437G	probably damaging	Het
Tll1	G	T	8: 64,121,492	Y109*	probably null	Het
Tmem79	A	G	3: 88,332,581	V274A	probably damaging	Het
Tnfrsf23	G	A	7: 143,681,462	S55L	probably benign	Het
Ubd	T	C	17: 37,193,974		probably null	Het
Ubl3	C	A	5: 148,506,175	R105L	possibly damaging	Het
Ubl7	A	T	9: 57,914,584	D72V	probably damaging	Het
Wdr55	T	C	18: 36,762,023	S81P	probably damaging	Het
Wtip	T	C	7: 34,116,619	Y344C	probably damaging	Het
Zfp488	A	G	14: 33,970,400	S269P	possibly damaging	Het
Zkscan2	A	C	7: 123,499,862	S36A	probably benign	Het

Other mutations in Slc6a20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02097:Slc6a20a	APN	9	123660619	missense	possibly damaging	0.95
eyeful	UTSW	9	123637070	missense	probably damaging	1.00
R0115:Slc6a20a	UTSW	9	123678758	missense	possibly damaging	0.84
R0255:Slc6a20a	UTSW	9	123664621	missense	probably damaging	1.00
R0512:Slc6a20a	UTSW	9	123660406	missense	probably damaging	1.00
R1744:Slc6a20a	UTSW	9	123662993	missense	probably benign	0.01
R1751:Slc6a20a	UTSW	9	123637100	missense	probably damaging	1.00
R1767:Slc6a20a	UTSW	9	123637100	missense	probably damaging	1.00
R1908:Slc6a20a	UTSW	9	123656308	missense	probably damaging	1.00
R1983:Slc6a20a	UTSW	9	123640587	missense	probably damaging	1.00
R2391:Slc6a20a	UTSW	9	123664621	missense	probably damaging	1.00
R3107:Slc6a20a	UTSW	9	123641708	critical splice donor site	probably null
R3547:Slc6a20a	UTSW	9	123660502	missense	probably damaging	1.00
R3760:Slc6a20a	UTSW	9	123662989	missense	probably damaging	0.99
R4126:Slc6a20a	UTSW	9	123660533	missense	probably damaging	1.00
R5584:Slc6a20a	UTSW	9	123640688	missense	probably damaging	1.00
R5881:Slc6a20a	UTSW	9	123641708	critical splice donor site	probably null
R6749:Slc6a20a	UTSW	9	123637070	missense	probably damaging	1.00
R7447:Slc6a20a	UTSW	9	123656224	missense	possibly damaging	0.47
R8017:Slc6a20a	UTSW	9	123637852	missense	probably damaging	1.00
R8017:Slc6a20a	UTSW	9	123664574	missense	probably damaging	1.00
R8019:Slc6a20a	UTSW	9	123637852	missense	probably damaging	1.00
R8019:Slc6a20a	UTSW	9	123664574	missense	probably damaging	1.00
R8023:Slc6a20a	UTSW	9	123660592	missense	probably damaging	1.00
R8145:Slc6a20a	UTSW	9	123637000	missense	probably damaging	1.00
R9082:Slc6a20a	UTSW	9	123678767	missense	possibly damaging	0.88
R9130:Slc6a20a	UTSW	9	123640566	critical splice donor site	probably null
R9131:Slc6a20a	UTSW	9	123636998	makesense	probably null
R9249:Slc6a20a	UTSW	9	123678876	unclassified	probably benign
R9394:Slc6a20a	UTSW	9	123678740	missense	probably damaging	1.00
R9701:Slc6a20a	UTSW	9	123660520	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTGTAGCTCCCAACAGTGG -3'
(R):5'- CCTACTGGCCTTCTAGATGGAAC -3'

Sequencing Primer
(F):5'- TTTCAGCTCAGAGCTCTG -3'
(R):5'- TGGAACAGCTAGCCAACCC -3'

Posted On

2019-11-12