Mutagenetix > Incidental Mutation

Incidental Mutation 'R0653:Slc6a20b'

62387

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

038838-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0653 (G1)

Quality Score

153

Status

Not validated

Chromosome

Chromosomal Location

123422888-123461603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123426377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 503 (F503L)

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 damaging
Transcript: ENSMUST00000026273
AA Change: F503L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026273
Gene: ENSMUSG00000025243
AA Change: F503L

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: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,066,371 (GRCm39)	R612*	probably null	Het
Adgra1	A	G	7: 139,456,063 (GRCm39)	T564A	probably damaging	Het
Akr1c18	A	T	13: 4,195,307 (GRCm39)	D50E	probably damaging	Het
Atg9a	C	A	1: 75,166,972 (GRCm39)	L26F	probably damaging	Het
Atp11b	A	G	3: 35,893,343 (GRCm39)	T899A	probably damaging	Het
Atxn2	A	G	5: 121,910,841 (GRCm39)	E358G	probably damaging	Het
Bmp3	A	G	5: 99,019,970 (GRCm39)	Y131C	probably damaging	Het
Brip1	T	C	11: 86,043,484 (GRCm39)	E360G	possibly damaging	Het
Casd1	A	T	6: 4,608,075 (GRCm39)	I76L	probably benign	Het
Casq2	G	A	3: 102,020,482 (GRCm39)		probably null	Het
Ccdc185	T	A	1: 182,575,129 (GRCm39)	Q520L	possibly damaging	Het
Cenpf	T	C	1: 189,392,183 (GRCm39)	K550E	probably damaging	Het
Ciz1	T	C	2: 32,262,418 (GRCm39)	S521P	probably damaging	Het
Clstn2	A	T	9: 97,340,257 (GRCm39)	V705E	probably damaging	Het
Dagla	A	G	19: 10,225,789 (GRCm39)	Y792H	probably damaging	Het
Dgke	A	T	11: 88,950,995 (GRCm39)	C73S	probably benign	Het
Egflam	A	G	15: 7,279,509 (GRCm39)		probably null	Het
Farp1	T	C	14: 121,471,258 (GRCm39)		probably null	Het
Fos	A	G	12: 85,522,790 (GRCm39)	E234G	probably benign	Het
Gtf3c5	A	T	2: 28,468,008 (GRCm39)	M151K	probably benign	Het
Hgs	G	A	11: 120,359,904 (GRCm39)	R36H	probably damaging	Het
Lats2	G	A	14: 57,937,653 (GRCm39)	Q279*	probably null	Het
Lysmd4	T	A	7: 66,875,788 (GRCm39)	D150E	probably benign	Het
Mex3b	A	G	7: 82,518,242 (GRCm39)	K186E	probably damaging	Het
Myo9a	A	C	9: 59,832,274 (GRCm39)	Q2601P	probably damaging	Het
Nckap5l	C	A	15: 99,321,127 (GRCm39)	V1218F	probably damaging	Het
Nr5a2	A	G	1: 136,876,543 (GRCm39)	V40A	probably benign	Het
Obscn	C	A	11: 58,898,534 (GRCm39)		probably benign	Het
Or2y1d	C	A	11: 49,322,078 (GRCm39)	Y258*	probably null	Het
Or4c114	A	G	2: 88,904,808 (GRCm39)	I209T	possibly damaging	Het
Or8g4	A	G	9: 39,661,934 (GRCm39)	N84S	probably benign	Het
Pclo	T	A	5: 14,732,269 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,118,228 (GRCm39)	I2939V	probably benign	Het
Rtn4	A	T	11: 29,657,256 (GRCm39)	K470I	probably damaging	Het
Sbno1	A	G	5: 124,524,955 (GRCm39)	I1050T	possibly damaging	Het
Scaf11	G	T	15: 96,316,522 (GRCm39)	S17*	probably null	Het
Scn9a	A	T	2: 66,363,721 (GRCm39)	N841K	probably damaging	Het
Slc35e3	C	A	10: 117,576,711 (GRCm39)	E207*	probably null	Het
Spag16	G	T	1: 69,909,504 (GRCm39)	K200N	probably damaging	Het
Supt6	G	T	11: 78,116,841 (GRCm39)	Q604K	probably benign	Het
Taok1	A	G	11: 77,469,550 (GRCm39)		probably null	Het
Tjp1	A	T	7: 64,964,503 (GRCm39)	H889Q	probably damaging	Het
Tmed6	A	T	8: 107,792,283 (GRCm39)		probably null	Het
Tsen54	A	T	11: 115,705,887 (GRCm39)	E68V	probably damaging	Het
Ttn	A	G	2: 76,559,878 (GRCm39)	S21181P	probably damaging	Het
Ube3d	A	T	9: 86,334,043 (GRCm39)	M33K	possibly damaging	Het
Umodl1	C	A	17: 31,203,002 (GRCm39)	Q452K	probably benign	Het
Wif1	G	T	10: 120,935,704 (GRCm39)	A354S	probably benign	Het
Wnk2	A	G	13: 49,210,492 (GRCm39)	F1788L	possibly damaging	Het
Zfhx3	A	T	8: 109,673,440 (GRCm39)	I1497F	possibly damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp30	G	A	7: 29,492,178 (GRCm39)	R225Q	probably damaging	Het
Zfp87	T	C	13: 74,520,190 (GRCm39)	E296G	probably damaging	Het
Zfp874b	A	G	13: 67,623,052 (GRCm39)	F86S	possibly damaging	Het
Zfyve19	A	G	2: 119,041,696 (GRCm39)	S88G	probably benign	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
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
R6108:Slc6a20b	UTSW	9	123,425,251 (GRCm39)	missense	probably benign	0.01
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'- TGGCTCCGATGCATACTTCATCAC -3'
(R):5'- GCAGCTCCTATAGCTCATGTCAGTG -3'

Sequencing Primer
(F):5'- CAGGGTTCTTGAAAATCCCCAATG -3'
(R):5'- TAGCTCATGTCAGTGAACCTAC -3'

Posted On

2013-07-30