Mutagenetix > Incidental Mutation

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

XT3, Slc6a20, Sit1, Xtrp3

MMRRC Submission

044258-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6108 (G1)

Quality Score

90.0077

Status

Not validated

Chromosome

Chromosomal Location

123422888-123461603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 123425251 bp (GRCm39)

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]

AlphaFold

no structure available at present

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: 81,539,814 (GRCm39)	F5702L	probably damaging	Het
Aptx	G	A	4: 40,694,986 (GRCm39)	Q117*	probably null	Het
Axin1	T	A	17: 26,362,214 (GRCm39)	M186K	probably damaging	Het
Btbd2	A	T	10: 80,481,365 (GRCm39)	L249Q	probably damaging	Het
Caprin1	C	T	2: 103,606,362 (GRCm39)	V293I	possibly damaging	Het
Ccdc136	C	A	6: 29,412,449 (GRCm39)	H334Q	probably benign	Het
Ccdc180	A	G	4: 45,911,389 (GRCm39)	N568S	possibly damaging	Het
Cenpf	A	T	1: 189,394,210 (GRCm39)	F515L	probably benign	Het
Chrm2	T	A	6: 36,500,230 (GRCm39)	V29E	probably damaging	Het
Cnot1	A	G	8: 96,457,048 (GRCm39)	L1956P	probably damaging	Het
Cyp2d22	T	C	15: 82,256,106 (GRCm39)	K176R	possibly damaging	Het
Dnah7a	A	T	1: 53,496,004 (GRCm39)	I3151N	probably damaging	Het
Dsg1a	T	A	18: 20,473,304 (GRCm39)	D792E	probably benign	Het
Fam167b	A	T	4: 129,472,101 (GRCm39)	L23*	probably null	Het
Fermt3	C	A	19: 6,991,782 (GRCm39)	R143L	probably benign	Het
Gfm2	A	G	13: 97,285,930 (GRCm39)	I140V	possibly damaging	Het
Gna14	A	G	19: 16,580,707 (GRCm39)	T182A	probably damaging	Het
Hmcn1	A	G	1: 150,506,978 (GRCm39)	V3738A	possibly damaging	Het
Hspa4	C	T	11: 53,152,539 (GRCm39)	G810D	probably damaging	Het
Igf2bp3	A	G	6: 49,094,308 (GRCm39)	I154T	probably damaging	Het
Il1rap	G	A	16: 26,541,457 (GRCm39)	S566N	probably damaging	Het
Kcnb1	G	A	2: 166,947,060 (GRCm39)	T596M	probably damaging	Het
Kcnn1	A	C	8: 71,307,800 (GRCm39)	S81A	probably benign	Het
Lmod1	G	A	1: 135,291,849 (GRCm39)	G235R	probably benign	Het
Mei1	A	T	15: 81,959,389 (GRCm39)	R185S	possibly damaging	Het
Mmrn1	G	A	6: 60,952,960 (GRCm39)	V414M	possibly damaging	Het
Mon2	C	A	10: 122,868,600 (GRCm39)	M484I	probably benign	Het
Nae1	A	T	8: 105,254,034 (GRCm39)	D99E	probably benign	Het
Nsun7	T	A	5: 66,453,142 (GRCm39)	I619N	probably damaging	Het
Nudt12	C	A	17: 59,314,744 (GRCm39)	R280L	probably damaging	Het
Or1l4	T	C	2: 37,091,778 (GRCm39)	V175A	possibly damaging	Het
P2ry1	T	A	3: 60,911,596 (GRCm39)	I245N	probably damaging	Het
Plch1	C	T	3: 63,609,444 (GRCm39)	R912H	probably damaging	Het
Plek	T	A	11: 16,940,058 (GRCm39)	Y217F	probably damaging	Het
Plpp1	A	T	13: 113,003,399 (GRCm39)	I208F	possibly damaging	Het
Ptges3-ps	C	T	6: 85,821,537 (GRCm39)		noncoding transcript	Het
Ptprf	A	G	4: 118,080,453 (GRCm39)	L1267P	probably benign	Het
Ptprz1	A	T	6: 23,045,658 (GRCm39)	S2143C	probably damaging	Het
Scn9a	T	C	2: 66,314,393 (GRCm39)	D1764G	probably damaging	Het
Serpinb5	T	A	1: 106,809,458 (GRCm39)	L288Q	probably damaging	Het
Slfnl1	A	G	4: 120,390,558 (GRCm39)	T70A	probably benign	Het
Smtn	C	A	11: 3,479,608 (GRCm39)	L486F	probably damaging	Het
Sptbn2	G	A	19: 4,781,420 (GRCm39)		probably null	Het
Tas2r144	C	A	6: 42,192,691 (GRCm39)	L144I	possibly damaging	Het
Tjp3	C	T	10: 81,116,980 (GRCm39)	R183K	probably benign	Het
Tnip3	A	G	6: 65,502,395 (GRCm39)		probably null	Het
Tspan12	T	A	6: 21,772,770 (GRCm39)	M212L	probably benign	Het
Ttn	T	A	2: 76,708,385 (GRCm39)		probably benign	Het
Vmn1r71	T	C	7: 10,482,545 (GRCm39)	M48V	probably benign	Het
Vmn2r10	A	G	5: 109,143,667 (GRCm39)	F761S	probably damaging	Het
Vmn2r106	G	A	17: 20,488,638 (GRCm39)	P587L	probably benign	Het
Wdr72	A	G	9: 74,058,950 (GRCm39)	T348A	probably damaging	Het
Xrn1	A	T	9: 95,856,480 (GRCm39)	L333F	possibly damaging	Het

Other mutations in Slc6a20b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02430:Slc6a20b	APN	9	123,426,305 (GRCm39)	missense	probably damaging	1.00
IGL02741:Slc6a20b	APN	9	123,436,667 (GRCm39)	missense	probably damaging	1.00
IGL03038:Slc6a20b	APN	9	123,426,394 (GRCm39)	missense	possibly damaging	0.55
IGL03115:Slc6a20b	APN	9	123,426,403 (GRCm39)	missense	possibly damaging	0.82
IGL03228:Slc6a20b	APN	9	123,461,197 (GRCm39)	nonsense	probably null
PIT4131001:Slc6a20b	UTSW	9	123,612,126 (GRCm38)	missense	probably benign	0.00
R0653:Slc6a20b	UTSW	9	123,426,377 (GRCm39)	missense	probably damaging	1.00
R1072:Slc6a20b	UTSW	9	123,427,524 (GRCm39)	missense	probably damaging	0.97
R1759:Slc6a20b	UTSW	9	123,438,062 (GRCm39)	critical splice donor site	probably null
R1889:Slc6a20b	UTSW	9	123,461,269 (GRCm39)	missense	probably benign	0.02
R2075:Slc6a20b	UTSW	9	123,424,099 (GRCm39)	missense	probably benign	0.13
R2187:Slc6a20b	UTSW	9	123,427,653 (GRCm39)	missense	probably damaging	1.00
R4097:Slc6a20b	UTSW	9	123,441,822 (GRCm39)	utr 3 prime	probably benign
R4762:Slc6a20b	UTSW	9	123,427,625 (GRCm39)	missense	probably damaging	1.00
R4834:Slc6a20b	UTSW	9	123,425,113 (GRCm39)	missense	probably benign	0.00
R4932:Slc6a20b	UTSW	9	123,433,861 (GRCm39)	missense	probably damaging	1.00
R5079:Slc6a20b	UTSW	9	123,427,563 (GRCm39)	missense	probably damaging	1.00
R5095:Slc6a20b	UTSW	9	123,424,119 (GRCm39)	missense	probably benign
R5307:Slc6a20b	UTSW	9	123,432,899 (GRCm39)	missense	possibly damaging	0.62
R5721:Slc6a20b	UTSW	9	123,441,054 (GRCm39)	missense	probably null	1.00
R6285:Slc6a20b	UTSW	9	123,438,161 (GRCm39)	missense	possibly damaging	0.81
R6463:Slc6a20b	UTSW	9	123,434,014 (GRCm39)	missense	possibly damaging	0.62
R7050:Slc6a20b	UTSW	9	123,427,608 (GRCm39)	missense	probably damaging	1.00
R7411:Slc6a20b	UTSW	9	123,434,013 (GRCm39)	missense	probably benign	0.32
R7422:Slc6a20b	UTSW	9	123,436,682 (GRCm39)	missense	possibly damaging	0.95
R7460:Slc6a20b	UTSW	9	123,434,014 (GRCm39)	missense	probably benign	0.00
R7940:Slc6a20b	UTSW	9	123,436,666 (GRCm39)	missense	probably damaging	1.00
R8953:Slc6a20b	UTSW	9	123,438,254 (GRCm39)	missense	probably damaging	1.00
R9468:Slc6a20b	UTSW	9	123,439,416 (GRCm39)	missense	probably damaging	1.00
RF024:Slc6a20b	UTSW	9	123,427,407 (GRCm39)	intron	probably benign

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