Mutagenetix > Incidental Mutations

Incidental Mutation 'R7447:Slc6a20a'

577363

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7447 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123634770-123678885 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123656224 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 311 (N311I)

Ref Sequence

ENSEMBL: ENSMUSP00000047690 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040960
AA Change: N311I

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047690
Gene: ENSMUSG00000036814
AA Change: N311I

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

possibly damaging
Transcript: ENSMUST00000171647
AA Change: N274I

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129107
Gene: ENSMUSG00000036814
AA Change: N274I

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: 99.8%
20x: 99.4%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	T	C	11: 29,824,122	D445G	probably benign	Het
Adck5	A	T	15: 76,595,196	I484F	possibly damaging	Het
Ago2	A	T	15: 73,138,032	N100K	probably benign	Het
Appl1	T	A	14: 26,959,452	K130*	probably null	Het
Arhgap39	G	A	15: 76,765,597		probably benign	Het
Axdnd1	A	G	1: 156,418,232		probably null	Het
C77080	C	A	4: 129,222,042	R988L	possibly damaging	Het
Camta1	A	T	4: 151,083,870	V1332E	probably benign	Het
Cd3g	A	G	9: 44,973,559	L129P	probably damaging	Het
Cd80	T	G	16: 38,473,889	S45A	probably benign	Het
Cdk12	A	T	11: 98,245,280	Q1120L	unknown	Het
Clip1	G	A	5: 123,653,633	S158F	probably benign	Het
Cntn3	C	A	6: 102,278,455	E161*	probably null	Het
Cyp3a59	A	C	5: 146,087,405	K67T	probably benign	Het
Dmxl1	T	C	18: 49,864,614	L623P	probably damaging	Het
Drd3	T	A	16: 43,817,063	Y208*	probably null	Het
Dusp10	A	T	1: 184,068,956	M307L	probably benign	Het
Dync2li1	A	T	17: 84,647,713	I267L	possibly damaging	Het
Edn3	C	A	2: 174,761,751	C97*	probably null	Het
Ehbp1l1	T	A	19: 5,719,428	T616S	possibly damaging	Het
Eif2a	C	T	3: 58,545,542	T246I	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Errfi1	A	G	4: 150,866,651	T179A	probably damaging	Het
Esyt3	G	A	9: 99,321,562	L450F	probably damaging	Het
Evx2	A	G	2: 74,659,104	S106P	probably benign	Het
Fam83a	T	G	15: 58,009,690	V305G	probably benign	Het
Gpr171	T	A	3: 59,098,439		probably null	Het
Grip1	A	G	10: 120,086,966	T1106A	probably benign	Het
Hecw1	A	G	13: 14,357,204	Y162H	probably damaging	Het
Hephl1	C	T	9: 15,097,882		probably null	Het
Hsp90aa1	A	G	12: 110,692,128	I693T	possibly damaging	Het
Ifit1bl2	T	A	19: 34,619,574	D214V	probably damaging	Het
Igsf10	T	C	3: 59,331,801	M320V	probably benign	Het
Kcnq2	A	G	2: 181,113,094	L220P	probably damaging	Het
Kpna1	C	A	16: 36,029,639	Q372K	probably damaging	Het
Lilrb4a	T	G	10: 51,491,053		probably null	Het
Ly75	C	A	2: 60,334,474	E787*	probably null	Het
Magi1	T	G	6: 93,745,581	S666R	possibly damaging	Het
Mif	C	A	10: 75,859,853	A39S	possibly damaging	Het
Mob4	G	A	1: 55,131,466		probably benign	Het
Mtmr4	G	T	11: 87,611,901	C927F	probably damaging	Het
Myh1	A	G	11: 67,219,180	K1398R	probably benign	Het
Myo3a	T	C	2: 22,544,426	V873A	probably benign	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Nckap5l	G	A	15: 99,427,476	P382L	probably damaging	Het
Ngly1	T	C	14: 16,290,844	I442T	probably damaging	Het
Nlrp1a	T	C	11: 71,092,411	Y1243C	probably damaging	Het
Olfr1055	T	A	2: 86,346,806	H320L	possibly damaging	Het
Pcsk5	C	T	19: 17,510,236	G1027D	probably benign	Het
Pla2g2c	T	A	4: 138,731,616	I11N	probably benign	Het
Polr3d	A	G	14: 70,439,800	I331T	probably damaging	Het
Ppp4r4	A	G	12: 103,585,726	I293M	possibly damaging	Het
Prkce	G	T	17: 86,559,259	V516F	probably damaging	Het
Prss27	T	A	17: 24,045,709	L282Q	probably damaging	Het
Pxdn	A	G	12: 29,984,927	Y261C	probably damaging	Het
R3hcc1l	T	C	19: 42,562,662	S33P	probably benign	Het
Rab11fip3	G	C	17: 26,068,874	R102G	possibly damaging	Het
Rabggta	A	T	14: 55,719,316	N310K	probably null	Het
Rbbp8	T	A	18: 11,660,877	D15E	probably benign	Het
Rbm5	T	C	9: 107,746,179	Y486C	probably damaging	Het
Rptor	T	A	11: 119,884,979	F992Y	probably benign	Het
Slc29a2	T	G	19: 5,026,417	L111R	probably damaging	Het
Slc39a11	T	A	11: 113,562,023	I31L	probably benign	Het
Slc8a1	A	G	17: 81,649,006	F201S	probably damaging	Het
Smtn	C	A	11: 3,530,196	V342L	probably benign	Het
Syne2	A	G	12: 76,028,079	T4598A	probably benign	Het
Tchp	A	G	5: 114,715,655	T267A	probably benign	Het
Tctex1d2	T	A	16: 32,425,271	V95E	probably damaging	Het
Tes3-ps	A	G	13: 49,494,032	E128G	possibly damaging	Het
Tigar	C	T	6: 127,088,166	G173E	probably benign	Het
Tmem171	T	C	13: 98,688,354	N256S	probably benign	Het
Tmem204	A	G	17: 25,058,296	I205T	probably damaging	Het
Tmem63a	A	G	1: 180,958,023	K240R	probably benign	Het
Tns2	C	T	15: 102,110,916	T446M	probably damaging	Het
Tnxb	A	T	17: 34,718,470	N2931I	probably damaging	Het
Trrap	G	T	5: 144,839,474	R2941L	probably damaging	Het
Ttc8	A	T	12: 98,943,872	R179S	probably damaging	Het
Ttll12	G	T	15: 83,586,975	T234N	probably damaging	Het
Ttn	G	T	2: 76,747,232	T24439K	probably damaging	Het
Ube2z	A	T	11: 96,055,910	I246N	possibly damaging	Het
Usp15	A	G	10: 123,175,881	Y104H	probably damaging	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Usp5	G	A	6: 124,821,114	A436V	probably damaging	Het
Utp20	A	G	10: 88,772,492	L1561S	probably damaging	Het
Xrn1	A	G	9: 96,045,494	M1444V	probably benign	Het
Zfp236	G	T	18: 82,633,690	Q885K	probably damaging	Het
Zfp831	C	A	2: 174,646,103	P857Q	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTGGTAGAAGGCAGCCATTG -3'
(R):5'- ATGCAGCCACGCAGATCTTC -3'

Sequencing Primer
(F):5'- CCATTGGCAATTGAGAAAGGATAAC -3'
(R):5'- ACGCAGATCTTCTTCTCACTGGG -3'

Posted On

2019-10-07