Mutagenetix > Incidental Mutation

Incidental Mutation 'R1744:Slc6a20a'

200595

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

039776-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123465972-123507897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123492058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 104 (V104I)

Ref Sequence

ENSEMBL: ENSMUSP00000129107 (fasta)

Gene Model

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

AlphaFold

Q8VDB9

Predicted Effect

probably benign
Transcript: ENSMUST00000040960
AA Change: V104I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000047690
Gene: ENSMUSG00000036814
AA Change: V104I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170591
AA Change: V49I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000132700
Gene: ENSMUSG00000036814
AA Change: V49I

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 benign
Transcript: ENSMUST00000171647
AA Change: V104I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129107
Gene: ENSMUSG00000036814
AA Change: V104I

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

Meta Mutation Damage Score

0.0699

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

98% (59/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	G	5: 81,942,267 (GRCm39)	E1247G	probably damaging	Het
Bcl2l15	T	A	3: 103,745,856 (GRCm39)	L165Q	probably damaging	Het
Cd163	C	A	6: 124,283,987 (GRCm39)	A53E	possibly damaging	Het
Cemip2	C	A	19: 21,809,501 (GRCm39)	Y960*	probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Clca3a1	G	T	3: 144,452,596 (GRCm39)	A629D	probably damaging	Het
Csde1	T	A	3: 102,957,631 (GRCm39)	S463R	probably benign	Het
Cth	C	G	3: 157,611,905 (GRCm39)	R304P	probably damaging	Het
D7Ertd443e	A	G	7: 133,951,142 (GRCm39)	V177A	probably benign	Het
Ddx56	G	A	11: 6,216,396 (GRCm39)	R189W	probably damaging	Het
Dennd2a	A	T	6: 39,457,185 (GRCm39)	F752L	probably benign	Het
Gabrp	A	T	11: 33,522,462 (GRCm39)	V28E	probably benign	Het
Gpam	T	C	19: 55,063,023 (GRCm39)	E763G	probably damaging	Het
Hars1	G	A	18: 36,903,885 (GRCm39)	R266C	probably benign	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Kmt2d	T	C	15: 98,762,928 (GRCm39)	K281E	probably damaging	Het
Lbx1	T	C	19: 45,222,652 (GRCm39)	K124E	probably damaging	Het
Lcp2	T	C	11: 34,019,911 (GRCm39)		probably null	Het
Mab21l2	T	C	3: 86,454,211 (GRCm39)	E263G	possibly damaging	Het
Macf1	A	T	4: 123,369,646 (GRCm39)	I140K	probably damaging	Het
Mcemp1	G	A	8: 3,716,054 (GRCm39)	A20T	probably damaging	Het
Met	T	C	6: 17,540,645 (GRCm39)	V137A	possibly damaging	Het
Mgat5	T	C	1: 127,407,206 (GRCm39)	F624S	probably damaging	Het
Nutm2	T	C	13: 50,623,390 (GRCm39)	I29T	probably benign	Het
Ociad1	T	C	5: 73,458,062 (GRCm39)		probably null	Het
Ogfod2	G	A	5: 124,252,219 (GRCm39)		probably null	Het
Or6c69	A	C	10: 129,747,262 (GRCm39)	V295G	probably damaging	Het
Or8g4	A	C	9: 39,661,711 (GRCm39)	T10P	probably benign	Het
Otoa	G	A	7: 120,726,999 (GRCm39)		probably benign	Het
Otud3	A	C	4: 138,623,059 (GRCm39)	L394R	probably damaging	Het
Pde5a	T	C	3: 122,541,546 (GRCm39)	V12A	probably damaging	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prr27	A	G	5: 87,990,906 (GRCm39)	I173V	possibly damaging	Het
Psg29	T	C	7: 16,944,278 (GRCm39)	C263R	probably damaging	Het
Ptprm	T	C	17: 66,996,361 (GRCm39)	Y1242C	probably damaging	Het
Retsat	C	T	6: 72,583,558 (GRCm39)	R84*	probably null	Het
Rif1	G	A	2: 52,002,404 (GRCm39)	V1953I	possibly damaging	Het
Ros1	A	T	10: 51,999,475 (GRCm39)	N1137K	probably damaging	Het
Scn1a	T	C	2: 66,152,620 (GRCm39)	H787R	probably benign	Het
Sec16a	T	C	2: 26,329,198 (GRCm39)	E939G	probably damaging	Het
Sh2d4a	G	A	8: 68,783,807 (GRCm39)	G247D	possibly damaging	Het
Siglec1	A	G	2: 130,923,219 (GRCm39)	S509P	probably damaging	Het
Slc25a30	A	G	14: 76,000,770 (GRCm39)	I278T	probably damaging	Het
Sp110	G	C	1: 85,522,093 (GRCm39)	T70S	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Stxbp1	A	G	2: 32,696,731 (GRCm39)		probably null	Het
Tmem132b	T	C	5: 125,855,908 (GRCm39)		probably null	Het
Tnfsf13b	G	A	8: 10,081,661 (GRCm39)		probably null	Het
Trappc6a	A	G	7: 19,248,154 (GRCm39)	E38G	probably damaging	Het
Trps1	T	C	15: 50,524,609 (GRCm39)	D857G	probably damaging	Het
Tspear	T	A	10: 77,700,718 (GRCm39)		probably null	Het
Vmn1r23	A	T	6: 57,902,910 (GRCm39)	N289K	possibly damaging	Het
Zcchc8	G	A	5: 123,838,436 (GRCm39)	Q701*	probably null	Het
Zfp618	A	T	4: 63,004,871 (GRCm39)		probably benign	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
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
R8017:Slc6a20a	UTSW	9	123,466,917 (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'- CCCCATAAGTCCTTGCCACAGATTC -3'
(R):5'- TCGCATTAGGCATATGGTTGGCAC -3'

Sequencing Primer
(F):5'- CAGGACACTTCCTGTAGATATTCCAG -3'
(R):5'- agcttcagtttactctttgaaacc -3'

Posted On

2014-05-23