Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Slc6a20a'

279632

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

123634770-123678885 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 123660619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 120 (P120S)

Ref Sequence

ENSEMBL: ENSMUSP00000129107 (fasta)

Gene Model

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

AlphaFold

Q8VDB9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040960
AA Change: P120S

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047690
Gene: ENSMUSG00000036814
AA Change: P120S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170591
AA Change: P65S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000132700
Gene: ENSMUSG00000036814
AA Change: P65S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171647
AA Change: P120S

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129107
Gene: ENSMUSG00000036814
AA Change: P120S

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 104,961,186	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,212,118	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,272,098	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,880,002	T788I	probably benign	Het
Asic1	T	C	15: 99,694,686		probably benign	Het
Cdhr4	T	A	9: 107,993,000	M68K	probably benign	Het
Cdhr5	G	T	7: 141,269,981	T637K	probably damaging	Het
Corin	A	T	5: 72,372,146	C289S	probably damaging	Het
Cpne4	T	C	9: 104,686,502	V26A	probably damaging	Het
Csmd1	T	C	8: 16,211,759	D908G	probably null	Het
Cyp2c29	A	G	19: 39,307,620	D126G	probably damaging	Het
Ddx42	G	A	11: 106,239,160	S426N	probably benign	Het
Dnah1	C	T	14: 31,305,001	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,164,795	T246A	probably damaging	Het
Fbn1	A	T	2: 125,363,969	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527	N536S	probably benign	Het
Gnal	G	A	18: 67,217,208		probably benign	Het
Gns	A	G	10: 121,390,693	T416A	probably benign	Het
Heatr5b	G	A	17: 78,817,514	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,691,684		probably benign	Het
Krt23	C	T	11: 99,493,010	G19R	probably benign	Het
Lama2	C	T	10: 27,138,960	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,917,891	V11M	probably damaging	Het
Man1a2	T	C	3: 100,582,131	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,589,456	V241F	possibly damaging	Het
Myh3	A	G	11: 67,082,924	D141G	probably benign	Het
Mylk2	G	A	2: 152,915,136	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,238,829	T471S	probably damaging	Het
Naip1	A	G	13: 100,425,588	V1023A	probably benign	Het
Olfm5	T	A	7: 104,154,231	T342S	probably benign	Het
Olfr1510	A	G	14: 52,410,054	F273L	probably benign	Het
Olfr38	T	A	6: 42,762,460	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,735,603	F263L	probably benign	Het
Plekhh2	A	T	17: 84,599,180	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,191,501		probably benign	Het
Rbm28	G	T	6: 29,138,618	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,273,327	F234L	probably benign	Het
Sele	T	C	1: 164,053,093	S415P	probably benign	Het
Shpk	T	C	11: 73,203,995	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,306,246	A148T	probably damaging	Het
Slc8a2	A	G	7: 16,157,156	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,940,039	I87F	possibly damaging	Het
Srebf1	T	G	11: 60,202,824	D739A	probably damaging	Het
Thg1l	A	G	11: 45,950,228	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,654,479	V540M	probably damaging	Het
Wdr48	A	G	9: 119,924,263	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,386,597	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,062,894	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,381,723	Y133*	probably null	Het

Other mutations in Slc6a20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7687:Slc6a20a	UTSW	9	123656266	missense	probably damaging	1.00
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

Posted On

2015-04-16