Mutagenetix > Incidental Mutation

Incidental Mutation 'R2187:Slc6a20b'

237881

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

040189-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123422888-123461603 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123427653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 419 (I419F)

Ref Sequence

ENSEMBL: ENSMUSP00000026273 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026273
AA Change: I419F

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

SMART Domains

Protein: ENSMUSP00000026273
Gene: ENSMUSG00000025243
AA Change: I419F

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 damaging
Transcript: ENSMUST00000166800
AA Change: I419F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	A	17: 31,324,491 (GRCm39)	S245R	probably damaging	Het
AI597479	T	A	1: 43,139,983 (GRCm39)	W70R	probably damaging	Het
Ankrd55	A	G	13: 112,520,039 (GRCm39)	S575G	probably benign	Het
Bfsp2	T	A	9: 103,303,976 (GRCm39)	K343*	probably null	Het
Cant1	A	T	11: 118,299,667 (GRCm39)	Y227*	probably null	Het
Cd2bp2	T	C	7: 126,793,963 (GRCm39)	N109D	probably benign	Het
Chmp6	A	G	11: 119,807,562 (GRCm39)	E135G	possibly damaging	Het
Dsp	T	G	13: 38,360,383 (GRCm39)	S329R	probably damaging	Het
Epha5	A	T	5: 84,234,223 (GRCm39)	F767L	probably damaging	Het
Epha7	A	T	4: 28,942,648 (GRCm39)	T566S	possibly damaging	Het
Erap1	A	T	13: 74,810,524 (GRCm39)	I288F	probably damaging	Het
Erich6	A	G	3: 58,537,266 (GRCm39)		probably null	Het
Fbxo10	A	G	4: 45,058,531 (GRCm39)	V402A	probably benign	Het
Fndc1	T	A	17: 7,960,604 (GRCm39)	I1604F	probably damaging	Het
Foxd4	T	G	19: 24,877,219 (GRCm39)	Q327P	probably damaging	Het
Fxn	T	A	19: 24,257,853 (GRCm39)	N26I	probably benign	Het
Hsf5	G	T	11: 87,529,010 (GRCm39)	G582C	possibly damaging	Het
Itga8	A	G	2: 12,199,231 (GRCm39)	V522A	possibly damaging	Het
Kplce	A	G	3: 92,775,922 (GRCm39)	S254P	probably damaging	Het
Lyst	C	T	13: 13,883,926 (GRCm39)	T2938I	possibly damaging	Het
Mib2	T	C	4: 155,739,390 (GRCm39)	E863G	possibly damaging	Het
Mrgpra9	A	G	7: 46,884,797 (GRCm39)	F290S	probably damaging	Het
Mst1	T	C	9: 107,961,539 (GRCm39)	Y599H	possibly damaging	Het
Mylk4	T	C	13: 32,905,996 (GRCm39)	I165V	probably damaging	Het
Nipsnap2	T	C	5: 129,823,537 (GRCm39)		probably null	Het
Nol8	T	C	13: 49,815,475 (GRCm39)	Y528H	probably benign	Het
Nup93	T	A	8: 95,027,478 (GRCm39)	S295R	probably damaging	Het
Nutm2	A	T	13: 50,621,453 (GRCm39)	Q6L	probably benign	Het
Or2b6	A	T	13: 21,823,555 (GRCm39)	I46N	probably damaging	Het
Or5ak20	T	G	2: 85,184,259 (GRCm39)	S4R	probably benign	Het
Or5b12b	T	A	19: 12,861,619 (GRCm39)	C125S	probably damaging	Het
Or6c33	A	G	10: 129,853,557 (GRCm39)	E109G	probably damaging	Het
Pip5k1a	A	T	3: 94,979,229 (GRCm39)	L189Q	probably damaging	Het
Plekha4	C	T	7: 45,198,698 (GRCm39)	R574C	probably damaging	Het
Ppp2cb	A	G	8: 34,100,705 (GRCm39)	E42G	possibly damaging	Het
Prkd3	T	A	17: 79,282,983 (GRCm39)	Q244L	probably benign	Het
Ptpn14	C	T	1: 189,595,425 (GRCm39)	R1023*	probably null	Het
Ptpra	A	G	2: 130,346,219 (GRCm39)	T127A	probably benign	Het
Rad54l2	ACCTCCTCCTCCTCCTCCTCCTCCTC	ACCTCCTCCTCCTCCTCCTCCTC	9: 106,631,191 (GRCm39)		probably benign	Het
Rasgrf1	T	C	9: 89,876,888 (GRCm39)	I751T	possibly damaging	Het
Rbm27	A	G	18: 42,459,022 (GRCm39)	K697R	probably damaging	Het
Rhoa	C	T	9: 108,212,352 (GRCm39)	T127M	probably benign	Het
Rnpepl1	A	G	1: 92,844,617 (GRCm39)	S370G	probably null	Het
Sdk1	C	T	5: 142,100,329 (GRCm39)	T1453I	probably damaging	Het
Sel1l2	A	G	2: 140,072,793 (GRCm39)	L614S	probably damaging	Het
Slc8a1	C	T	17: 81,955,982 (GRCm39)	S352N	possibly damaging	Het
Spta1	A	G	1: 174,020,532 (GRCm39)	D547G	probably damaging	Het
Tc2n	G	A	12: 101,672,803 (GRCm39)	T46I	probably damaging	Het
Terb1	T	A	8: 105,199,516 (GRCm39)	Y476F	probably benign	Het
Trim12a	T	A	7: 103,953,399 (GRCm39)	E237D	probably damaging	Het
Usp47	T	C	7: 111,666,398 (GRCm39)	L309P	probably 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
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'- ACCTGAAATGGCCTCCTTG -3'
(R):5'- GCAGGGTTCATCACAGTGTG -3'

Sequencing Primer
(F):5'- CTCCTTGGGCAGGTAGCTG -3'
(R):5'- TGTGTGTGTGTTGGCTAGC -3'

Posted On

2014-10-02