Mutagenetix > Incidental Mutations

Incidental Mutation 'R6108:Slc6a20b'

485614

Institutional Source

Beutler Lab

Gene Symbol

Slc6a20b

Ensembl Gene

ENSMUSG00000025243

Gene Name

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

Synonyms

Sit1, XT3, Xtrp3, Slc6a20

MMRRC Submission

044258-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6108 (G1)

Quality Score

90.0077

Status

Not validated

Chromosome

Chromosomal Location

123590800-123632565 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 123596186 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 539 (M539L)

Ref Sequence

ENSEMBL: ENSMUSP00000026273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026270] [ENSMUST00000026273] [ENSMUST00000166800]

Predicted Effect

probably benign
Transcript: ENSMUST00000026270

SMART Domains

Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240

Domain	Start	End	E-Value	Type
Pfam:Syja_N	58	346	4.7e-88	PFAM
low complexity region	400	415	N/A	INTRINSIC
Blast:IPPc	416	500	3e-12	BLAST
transmembrane domain	521	543	N/A	INTRINSIC
transmembrane domain	550	569	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000026273
AA Change: M539L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000026273
Gene: ENSMUSG00000025243
AA Change: M539L

Domain	Start	End	E-Value	Type
low complexity region	19	33	N/A	INTRINSIC
Pfam:SNF	48	624	5.4e-173	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166800

Predicted Effect

probably benign
Transcript: ENSMUST00000168824

SMART Domains

Protein: ENSMUSP00000129307
Gene: ENSMUSG00000025243

Domain	Start	End	E-Value	Type
low complexity region	9	23	N/A	INTRINSIC
Pfam:SNF	38	74	3.3e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171122

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,391,695	F5702L	probably damaging	Het
Aptx	G	A	4: 40,694,986	Q117*	probably null	Het
Axin1	T	A	17: 26,143,240	M186K	probably damaging	Het
Btbd2	A	T	10: 80,645,531	L249Q	probably damaging	Het
Caprin1	C	T	2: 103,776,017	V293I	possibly damaging	Het
Ccdc136	C	A	6: 29,412,450	H334Q	probably benign	Het
Ccdc180	A	G	4: 45,911,389	N568S	possibly damaging	Het
Cenpf	A	T	1: 189,662,013	F515L	probably benign	Het
Chrm2	T	A	6: 36,523,295	V29E	probably damaging	Het
Cnot1	A	G	8: 95,730,420	L1956P	probably damaging	Het
Cyp2d22	T	C	15: 82,371,905	K176R	possibly damaging	Het
Dnah7a	A	T	1: 53,456,845	I3151N	probably damaging	Het
Dsg1a	T	A	18: 20,340,247	D792E	probably benign	Het
Fam167b	A	T	4: 129,578,308	L23*	probably null	Het
Fermt3	C	A	19: 7,014,414	R143L	probably benign	Het
Gfm2	A	G	13: 97,149,422	I140V	possibly damaging	Het
Gna14	A	G	19: 16,603,343	T182A	probably damaging	Het
Hmcn1	A	G	1: 150,631,227	V3738A	possibly damaging	Het
Hspa4	C	T	11: 53,261,712	G810D	probably damaging	Het
Igf2bp3	A	G	6: 49,117,374	I154T	probably damaging	Het
Il1rap	G	A	16: 26,722,707	S566N	probably damaging	Het
Kcnb1	G	A	2: 167,105,140	T596M	probably damaging	Het
Kcnn1	A	C	8: 70,855,156	S81A	probably benign	Het
Lmod1	G	A	1: 135,364,111	G235R	probably benign	Het
Mei1	A	T	15: 82,075,188	R185S	possibly damaging	Het
Mmrn1	G	A	6: 60,975,976	V414M	possibly damaging	Het
Mon2	C	A	10: 123,032,695	M484I	probably benign	Het
Nae1	A	T	8: 104,527,402	D99E	probably benign	Het
Nsun7	T	A	5: 66,295,799	I619N	probably damaging	Het
Nudt12	C	A	17: 59,007,749	R280L	probably damaging	Het
Olfr365	T	C	2: 37,201,766	V175A	possibly damaging	Het
P2ry1	T	A	3: 61,004,175	I245N	probably damaging	Het
Plch1	C	T	3: 63,702,023	R912H	probably damaging	Het
Plek	T	A	11: 16,990,058	Y217F	probably damaging	Het
Plpp1	A	T	13: 112,866,865	I208F	possibly damaging	Het
Ptges3-ps	C	T	6: 85,844,555		noncoding transcript	Het
Ptprf	A	G	4: 118,223,256	L1267P	probably benign	Het
Ptprz1	A	T	6: 23,045,659	S2143C	probably damaging	Het
Scn9a	T	C	2: 66,484,049	D1764G	probably damaging	Het
Serpinb5	T	A	1: 106,881,728	L288Q	probably damaging	Het
Slfnl1	A	G	4: 120,533,361	T70A	probably benign	Het
Smtn	C	A	11: 3,529,608	L486F	probably damaging	Het
Sptbn2	G	A	19: 4,731,392		probably null	Het
Tas2r144	C	A	6: 42,215,757	L144I	possibly damaging	Het
Tjp3	C	T	10: 81,281,146	R183K	probably benign	Het
Tnip3	A	G	6: 65,525,411		probably null	Het
Tspan12	T	A	6: 21,772,771	M212L	probably benign	Het
Ttn	T	A	2: 76,878,041		probably benign	Het
Vmn1r71	T	C	7: 10,748,618	M48V	probably benign	Het
Vmn2r10	A	G	5: 108,995,801	F761S	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376	P587L	probably benign	Het
Wdr72	A	G	9: 74,151,668	T348A	probably damaging	Het
Xrn1	A	T	9: 95,974,427	L333F	possibly damaging	Het

Other mutations in Slc6a20b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02430:Slc6a20b	APN	9	123597240	missense	probably damaging	1.00
IGL02741:Slc6a20b	APN	9	123607602	missense	probably damaging	1.00
IGL03038:Slc6a20b	APN	9	123597329	missense	possibly damaging	0.55
IGL03115:Slc6a20b	APN	9	123597338	missense	possibly damaging	0.82
IGL03228:Slc6a20b	APN	9	123632132	nonsense	probably null
PIT4131001:Slc6a20b	UTSW	9	123612126	missense	probably benign	0.00
R0653:Slc6a20b	UTSW	9	123597312	missense	probably damaging	1.00
R1072:Slc6a20b	UTSW	9	123598459	missense	probably damaging	0.97
R1759:Slc6a20b	UTSW	9	123608997	critical splice donor site	probably null
R1889:Slc6a20b	UTSW	9	123632204	missense	probably benign	0.02
R2075:Slc6a20b	UTSW	9	123595034	missense	probably benign	0.13
R2187:Slc6a20b	UTSW	9	123598588	missense	probably damaging	1.00
R4097:Slc6a20b	UTSW	9	123612757	utr 3 prime	probably benign
R4762:Slc6a20b	UTSW	9	123598560	missense	probably damaging	1.00
R4834:Slc6a20b	UTSW	9	123596048	missense	probably benign	0.00
R4932:Slc6a20b	UTSW	9	123604796	missense	probably damaging	1.00
R5079:Slc6a20b	UTSW	9	123598498	missense	probably damaging	1.00
R5095:Slc6a20b	UTSW	9	123595054	missense	probably benign
R5307:Slc6a20b	UTSW	9	123603834	missense	possibly damaging	0.62
R5721:Slc6a20b	UTSW	9	123611989	missense	probably null	1.00
R6285:Slc6a20b	UTSW	9	123609096	missense	possibly damaging	0.81
R6463:Slc6a20b	UTSW	9	123604949	missense	possibly damaging	0.62
R7050:Slc6a20b	UTSW	9	123598543	missense	probably damaging	1.00
R7411:Slc6a20b	UTSW	9	123604948	missense	probably benign	0.32
R7422:Slc6a20b	UTSW	9	123607617	missense	possibly damaging	0.95
R7460:Slc6a20b	UTSW	9	123604949	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACACTGTTGGCTCTGCTCTG -3'
(R):5'- GTCATTCTCCCCTTAGGCAG -3'

Sequencing Primer
(F):5'- TGTTCCTCAGCCCTGCAGG -3'
(R):5'- TCCCCTTAGGCAGCATCAG -3'

Posted On

2017-08-16