Mutagenetix > Incidental Mutation

Incidental Mutation 'R1751:Slc6a20a'

193524

Institutional Source

Beutler Lab

Gene Symbol

Slc6a20a

Ensembl Gene

ENSMUSG00000036814

Gene Name

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

Synonyms

Xtrp3s1, A730081N20Rik

MMRRC Submission

039783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123465972-123507897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123466165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 522 (I522F)

Ref Sequence

ENSEMBL: ENSMUSP00000129107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026273] [ENSMUST00000040960] [ENSMUST00000166800] [ENSMUST00000171647]

AlphaFold

Q8VDB9

Predicted Effect

probably benign
Transcript: ENSMUST00000026273

SMART Domains

Protein: ENSMUSP00000026273
Gene: ENSMUSG00000025243

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: ENSMUST00000040960
AA Change: I559F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047690
Gene: ENSMUSG00000036814
AA Change: I559F

Domain	Start	End	E-Value	Type
Pfam:SNF	5	581	1.7e-177	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163397

SMART Domains

Protein: ENSMUSP00000127422
Gene: ENSMUSG00000025243

Domain	Start	End	E-Value	Type
Pfam:SNF	23	59	1.8e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164734

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

probably damaging
Transcript: ENSMUST00000171647
AA Change: I522F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129107
Gene: ENSMUSG00000036814
AA Change: I522F

Domain	Start	End	E-Value	Type
Pfam:SNF	5	196	3.3e-72	PFAM
Pfam:SNF	194	544	8.4e-85	PFAM

Meta Mutation Damage Score

0.2621

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

99% (85/86)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bank1	G	T	3: 135,940,375 (GRCm39)	R203S	probably benign	Het
Bank1	A	G	3: 135,960,698 (GRCm39)	V53A	probably benign	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Cdc5l	A	T	17: 45,718,731 (GRCm39)	D628E	probably benign	Het
Chd3	G	A	11: 69,244,727 (GRCm39)		probably benign	Het
Clstn3	A	T	6: 124,408,958 (GRCm39)	W860R	probably damaging	Het
Cntn4	G	A	6: 106,595,371 (GRCm39)		probably null	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Cyp2b9	T	C	7: 25,886,100 (GRCm39)	V89A	probably benign	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm39)	R242C	probably damaging	Het
Gart	A	C	16: 91,439,837 (GRCm39)		probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm5519	T	C	19: 33,802,391 (GRCm39)	Y145H	possibly damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gnas	T	A	2: 174,139,687 (GRCm39)		probably benign	Het
Greb1	A	G	12: 16,773,439 (GRCm39)		probably benign	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gucy2c	A	T	6: 136,725,773 (GRCm39)		probably benign	Het
Igf2r	A	C	17: 12,916,328 (GRCm39)	S1677A	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,469 (GRCm39)	L1274P	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrp6	A	G	6: 134,441,531 (GRCm39)	L1145S	probably damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Nol8	A	T	13: 49,820,884 (GRCm39)	T914S	probably benign	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12d17	A	T	17: 37,777,792 (GRCm39)	M232L	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pcp4	A	C	16: 96,326,689 (GRCm39)	Q290P	probably damaging	Het
Pdlim1	C	T	19: 40,240,348 (GRCm39)		probably benign	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Pik3c2a	A	C	7: 115,945,471 (GRCm39)	V1445G	probably damaging	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Plxnc1	A	G	10: 94,685,677 (GRCm39)		probably benign	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rfx2	A	G	17: 57,091,754 (GRCm39)	V313A	probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Sbpl	A	G	17: 24,173,777 (GRCm39)		probably null	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Setbp1	T	C	18: 78,900,613 (GRCm39)	D1018G	probably damaging	Het
Slc38a11	T	A	2: 65,180,452 (GRCm39)	I182F	probably benign	Het
Smarca2	T	C	19: 26,617,780 (GRCm39)		probably benign	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Stox1	T	C	10: 62,495,445 (GRCm39)	T943A	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Trpc7	T	A	13: 56,923,956 (GRCm39)	D743V	probably damaging	Het
Trrap	T	C	5: 144,751,385 (GRCm39)		probably null	Het
Tsc1	A	G	2: 28,566,038 (GRCm39)	I485V	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Tsr3	T	C	17: 25,461,613 (GRCm39)	I317T	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r108	A	T	17: 20,682,786 (GRCm39)	V806E	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zfp108	C	A	7: 23,961,321 (GRCm39)	H637Q	probably damaging	Het

Other mutations in Slc6a20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02097:Slc6a20a	APN	9	123,489,684 (GRCm39)	missense	possibly damaging	0.95
eyeful	UTSW	9	123,466,135 (GRCm39)	missense	probably damaging	1.00
R0115:Slc6a20a	UTSW	9	123,507,823 (GRCm39)	missense	possibly damaging	0.84
R0255:Slc6a20a	UTSW	9	123,493,686 (GRCm39)	missense	probably damaging	1.00
R0512:Slc6a20a	UTSW	9	123,489,471 (GRCm39)	missense	probably damaging	1.00
R1744:Slc6a20a	UTSW	9	123,492,058 (GRCm39)	missense	probably benign	0.01
R1767:Slc6a20a	UTSW	9	123,466,165 (GRCm39)	missense	probably damaging	1.00
R1908:Slc6a20a	UTSW	9	123,485,373 (GRCm39)	missense	probably damaging	1.00
R1983:Slc6a20a	UTSW	9	123,469,652 (GRCm39)	missense	probably damaging	1.00
R2391:Slc6a20a	UTSW	9	123,493,686 (GRCm39)	missense	probably damaging	1.00
R3107:Slc6a20a	UTSW	9	123,470,773 (GRCm39)	critical splice donor site	probably null
R3547:Slc6a20a	UTSW	9	123,489,567 (GRCm39)	missense	probably damaging	1.00
R3760:Slc6a20a	UTSW	9	123,492,054 (GRCm39)	missense	probably damaging	0.99
R4126:Slc6a20a	UTSW	9	123,489,598 (GRCm39)	missense	probably damaging	1.00
R5584:Slc6a20a	UTSW	9	123,469,753 (GRCm39)	missense	probably damaging	1.00
R5881:Slc6a20a	UTSW	9	123,470,773 (GRCm39)	critical splice donor site	probably null
R6749:Slc6a20a	UTSW	9	123,466,135 (GRCm39)	missense	probably damaging	1.00
R7447:Slc6a20a	UTSW	9	123,485,289 (GRCm39)	missense	possibly damaging	0.47
R7687:Slc6a20a	UTSW	9	123,485,331 (GRCm39)	missense	probably damaging	1.00
R8017:Slc6a20a	UTSW	9	123,493,639 (GRCm39)	missense	probably damaging	1.00
R8017:Slc6a20a	UTSW	9	123,466,917 (GRCm39)	missense	probably damaging	1.00
R8019:Slc6a20a	UTSW	9	123,493,639 (GRCm39)	missense	probably damaging	1.00
R8019:Slc6a20a	UTSW	9	123,466,917 (GRCm39)	missense	probably damaging	1.00
R8023:Slc6a20a	UTSW	9	123,489,657 (GRCm39)	missense	probably damaging	1.00
R8145:Slc6a20a	UTSW	9	123,466,065 (GRCm39)	missense	probably damaging	1.00
R9082:Slc6a20a	UTSW	9	123,507,832 (GRCm39)	missense	possibly damaging	0.88
R9130:Slc6a20a	UTSW	9	123,469,631 (GRCm39)	critical splice donor site	probably null
R9131:Slc6a20a	UTSW	9	123,466,063 (GRCm39)	makesense	probably null
R9249:Slc6a20a	UTSW	9	123,507,941 (GRCm39)	unclassified	probably benign
R9394:Slc6a20a	UTSW	9	123,507,805 (GRCm39)	missense	probably damaging	1.00
R9701:Slc6a20a	UTSW	9	123,489,585 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACTGTGAAACAGAGTGGCTGAC -3'
(R):5'- TCCTGGAACTTCCCCTAGAAGTGC -3'

Sequencing Primer
(F):5'- AACAGAGTGGCTGACTTCCG -3'
(R):5'- GGCATAGTTCCTCTGAAGGC -3'

Posted On

2014-05-23