Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01728:Slc6a9'

105365

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc6a9

Ensembl Gene

ENSMUSG00000028542

Gene Name

solute carrier family 6 (neurotransmitter transporter, glycine), member 9

Synonyms

Glyt-1, Glyt1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01728

Quality Score

Status

Chromosome

Chromosomal Location

117692240-117726502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117721802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 276 (F276S)

Ref Sequence

ENSEMBL: ENSMUSP00000127093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030269] [ENSMUST00000063857] [ENSMUST00000084325] [ENSMUST00000106422] [ENSMUST00000132043] [ENSMUST00000149168] [ENSMUST00000163288] [ENSMUST00000169885] [ENSMUST00000169990] [ENSMUST00000167287] [ENSMUST00000164853]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030269
AA Change: F388S

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

SMART Domains

Protein: ENSMUSP00000030269
Gene: ENSMUSG00000028542
AA Change: F388S

Domain	Start	End	E-Value	Type
Pfam:SNF	27	562	5.1e-234	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000063857
AA Change: F388S

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

SMART Domains

Protein: ENSMUSP00000066102
Gene: ENSMUSG00000028542
AA Change: F388S

Domain	Start	End	E-Value	Type
Pfam:SNF	27	562	5.1e-234	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084325

SMART Domains

Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	230	1.9e-47	PFAM
Pfam:Glyco_transf_7C	232	310	2.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106422

SMART Domains

Protein: ENSMUSP00000102030
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
coiled coil region	133	158	N/A	INTRINSIC
low complexity region	254	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132043

SMART Domains

Protein: ENSMUSP00000122676
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
Pfam:SNF	32	321	1.4e-132	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149168

SMART Domains

Protein: ENSMUSP00000129359
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
low complexity region	91	116	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154439

Predicted Effect

probably damaging
Transcript: ENSMUST00000163288
AA Change: F392S

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

SMART Domains

Protein: ENSMUSP00000127289
Gene: ENSMUSG00000028542
AA Change: F392S

Domain	Start	End	E-Value	Type
Pfam:SNF	46	566	2.1e-212	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000169885
AA Change: F276S

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

SMART Domains

Protein: ENSMUSP00000127093
Gene: ENSMUSG00000028542
AA Change: F276S

Domain	Start	End	E-Value	Type
Pfam:SNF	1	450	1.2e-182	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164716

Predicted Effect

probably benign
Transcript: ENSMUST00000169990

SMART Domains

Protein: ENSMUSP00000127203
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
Pfam:SNF	84	373	2.3e-132	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167287

SMART Domains

Protein: ENSMUSP00000126161
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
coiled coil region	13	38	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164853

SMART Domains

Protein: ENSMUSP00000132114
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
coiled coil region	133	158	N/A	INTRINSIC
low complexity region	254	266	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The amino acid glycine acts as an inhibitory neurotransmitter in the central nervous system. The protein encoded by this gene is one of two transporters that stop glycine signaling by removing it from the synaptic cleft. [provided by RefSeq, Jun 2016]
PHENOTYPE: Homozygous null mice die shortly after birth exhibiting breathing and movement deficiencies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,221,668 (GRCm39)	S54P	probably benign	Het
Adamtsl1	T	C	4: 86,029,074 (GRCm39)	I71T	probably damaging	Het
Agbl3	T	C	6: 34,759,092 (GRCm39)	M1T	probably null	Het
Ankib1	A	G	5: 3,751,992 (GRCm39)		probably benign	Het
Brinp3	T	G	1: 146,707,289 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,087,085 (GRCm39)	N138S	possibly damaging	Het
Dock7	G	A	4: 98,850,568 (GRCm39)	T1588M	probably damaging	Het
Ehbp1	G	A	11: 22,051,115 (GRCm39)	T479I	probably damaging	Het
Gpn2	T	C	4: 133,311,813 (GRCm39)	I15T	possibly damaging	Het
H3c2	G	A	13: 23,936,712 (GRCm39)	R117H	probably benign	Het
Haao	A	G	17: 84,142,658 (GRCm39)	F149S	probably damaging	Het
Iqsec3	T	A	6: 121,389,623 (GRCm39)		probably benign	Het
Lrrc39	G	T	3: 116,373,149 (GRCm39)		probably benign	Het
Ltbp2	C	A	12: 84,837,783 (GRCm39)	S1199I	probably damaging	Het
Mageb3	G	T	2: 121,784,941 (GRCm39)	P254T	probably damaging	Het
Mapkbp1	C	T	2: 119,854,302 (GRCm39)	P1300S	probably damaging	Het
Mtfmt	T	A	9: 65,343,100 (GRCm39)	L2H	probably damaging	Het
Myo18a	G	T	11: 77,668,682 (GRCm39)	G181W	probably damaging	Het
Mzf1	T	C	7: 12,785,654 (GRCm39)		probably benign	Het
Nfatc2	A	T	2: 168,378,162 (GRCm39)	L280Q	probably damaging	Het
Nudt15	A	G	14: 73,760,736 (GRCm39)		probably null	Het
Or51k2	T	C	7: 103,595,959 (GRCm39)	F62S	probably damaging	Het
Or8b53	A	G	9: 38,667,391 (GRCm39)	M136V	possibly damaging	Het
Parp14	A	G	16: 35,677,805 (GRCm39)	V721A	probably damaging	Het
Pbp2	G	T	6: 135,287,073 (GRCm39)	N91K	probably damaging	Het
Pde7b	C	A	10: 20,310,210 (GRCm39)		probably null	Het
Pramel7	C	A	2: 87,321,674 (GRCm39)	E120D	possibly damaging	Het
Rbbp5	C	T	1: 132,425,818 (GRCm39)	T516M	probably benign	Het
Slc16a12	A	G	19: 34,668,071 (GRCm39)	V28A	possibly damaging	Het
Spata9	A	T	13: 76,141,193 (GRCm39)	I147L	probably benign	Het
Tenm4	A	T	7: 96,545,271 (GRCm39)	Y2429F	probably damaging	Het
Tmtc1	A	G	6: 148,312,564 (GRCm39)	S212P	probably benign	Het
Unc5cl	A	T	17: 48,766,991 (GRCm39)	I122F	probably damaging	Het
Unc79	T	A	12: 103,131,943 (GRCm39)	F2350I	probably damaging	Het

Other mutations in Slc6a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Slc6a9	APN	4	117,721,814 (GRCm39)	missense	probably damaging	1.00
IGL02111:Slc6a9	APN	4	117,721,210 (GRCm39)	missense	probably benign	0.19
R0051:Slc6a9	UTSW	4	117,722,056 (GRCm39)	missense	probably damaging	1.00
R0051:Slc6a9	UTSW	4	117,722,056 (GRCm39)	missense	probably damaging	1.00
R1170:Slc6a9	UTSW	4	117,722,003 (GRCm39)	missense	possibly damaging	0.77
R2872:Slc6a9	UTSW	4	117,706,578 (GRCm39)	start codon destroyed	probably null	0.02
R2872:Slc6a9	UTSW	4	117,706,578 (GRCm39)	start codon destroyed	probably null	0.02
R3499:Slc6a9	UTSW	4	117,714,000 (GRCm39)	missense	probably benign	0.01
R4744:Slc6a9	UTSW	4	117,725,092 (GRCm39)	missense	probably benign	0.00
R4970:Slc6a9	UTSW	4	117,713,205 (GRCm39)	missense	probably damaging	1.00
R5055:Slc6a9	UTSW	4	117,725,347 (GRCm39)	splice site	probably null
R5103:Slc6a9	UTSW	4	117,725,352 (GRCm39)	missense	probably benign
R5726:Slc6a9	UTSW	4	117,721,210 (GRCm39)	missense	probably damaging	1.00
R6836:Slc6a9	UTSW	4	117,725,083 (GRCm39)	missense	possibly damaging	0.49
R7030:Slc6a9	UTSW	4	117,714,633 (GRCm39)	missense	possibly damaging	0.94
R7061:Slc6a9	UTSW	4	117,725,261 (GRCm39)	missense	probably benign	0.40
R7278:Slc6a9	UTSW	4	117,725,303 (GRCm39)	missense	probably benign	0.31
R7863:Slc6a9	UTSW	4	117,721,207 (GRCm39)	missense	probably damaging	1.00
R8036:Slc6a9	UTSW	4	117,725,083 (GRCm39)	missense	possibly damaging	0.49
R8722:Slc6a9	UTSW	4	117,714,452 (GRCm39)	missense	unknown
R9302:Slc6a9	UTSW	4	117,706,596 (GRCm39)	missense	possibly damaging	0.91
R9575:Slc6a9	UTSW	4	117,714,603 (GRCm39)	missense	probably benign
R9627:Slc6a9	UTSW	4	117,721,210 (GRCm39)	missense	probably damaging	1.00
R9749:Slc6a9	UTSW	4	117,721,198 (GRCm39)	missense	probably damaging	0.98
Z1176:Slc6a9	UTSW	4	117,714,563 (GRCm39)	missense	probably benign	0.01

Posted On

2014-01-21