Mutagenetix > Incidental Mutation

Incidental Mutation 'R9575:Slc6a9'

722236

Institutional Source

Beutler Lab

Gene Symbol

Slc6a9

Ensembl Gene

ENSMUSG00000028542

Gene Name

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

Synonyms

Glyt-1, Glyt1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9575 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117692240-117726502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117714603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 175 (S175P)

Ref Sequence

ENSEMBL: ENSMUSP00000066102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030269] [ENSMUST00000063857] [ENSMUST00000123994] [ENSMUST00000132043] [ENSMUST00000149168] [ENSMUST00000163288] [ENSMUST00000169885] [ENSMUST00000169990]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030269
AA Change: S175P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030269
Gene: ENSMUSG00000028542
AA Change: S175P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000063857
AA Change: S175P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066102
Gene: ENSMUSG00000028542
AA Change: S175P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123994
AA Change: S110P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127806
Gene: ENSMUSG00000028542
AA Change: S110P

Domain	Start	End	E-Value	Type
Pfam:SNF	1	114	1.5e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132043
AA Change: S180P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122676
Gene: ENSMUSG00000028542
AA Change: S180P

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

probably benign
Transcript: ENSMUST00000163288
AA Change: S179P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127289
Gene: ENSMUSG00000028542
AA Change: S179P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169885
AA Change: S63P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127093
Gene: ENSMUSG00000028542
AA Change: S63P

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000127203
Gene: ENSMUSG00000028542
AA Change: S232P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B4galt4	T	C	16: 38,583,513 (GRCm39)	Y253H	probably damaging	Het
Catsperd	A	G	17: 56,935,231 (GRCm39)	R15G	unknown	Het
Cep350	G	A	1: 155,751,113 (GRCm39)	P2020S	probably benign	Het
Cip2a	T	A	16: 48,838,754 (GRCm39)	M857K	probably benign	Het
Fancm	T	A	12: 65,152,314 (GRCm39)	D923E	possibly damaging	Het
Fastk	A	G	5: 24,650,067 (GRCm39)	S27P	probably benign	Het
Flnc	A	G	6: 29,454,399 (GRCm39)	H1937R	probably damaging	Het
Gfm2	T	C	13: 97,285,906 (GRCm39)	W132R	probably damaging	Het
Grhl1	T	C	12: 24,636,082 (GRCm39)	I348T	probably damaging	Het
Gstcd	G	T	3: 132,704,708 (GRCm39)	H515Q	probably damaging	Het
Igsf3	A	G	3: 101,338,625 (GRCm39)	Y313C	probably damaging	Het
Mbtd1	G	A	11: 93,799,764 (GRCm39)		probably null	Het
Myo9a	T	C	9: 59,813,190 (GRCm39)	S2130P	probably damaging	Het
Or3a10	A	T	11: 73,935,840 (GRCm39)	C87S	probably benign	Het
Plpp4	T	A	7: 128,925,211 (GRCm39)	F149I	probably benign	Het
Poglut1	T	C	16: 38,363,285 (GRCm39)	T165A	probably benign	Het
Potefam3b	A	T	8: 21,159,090 (GRCm39)	D148V	probably damaging	Het
Rhbdf1	A	G	11: 32,163,101 (GRCm39)	I425T	probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,640,271 (GRCm39)		probably benign	Het
Slitrk3	C	T	3: 72,956,127 (GRCm39)	G882S	probably benign	Het
Spag9	A	G	11: 93,962,409 (GRCm39)	I356M	probably damaging	Het
Spef2	A	T	15: 9,596,672 (GRCm39)	L1459Q	probably damaging	Het
Tenm3	A	T	8: 48,688,796 (GRCm39)	F2264I	possibly damaging	Het
Vmn2r3	T	C	3: 64,178,735 (GRCm39)	N510S	probably benign	Het
Zfp866	A	T	8: 70,219,288 (GRCm39)	C111S	probably damaging	Het
Zfp971	T	A	2: 177,675,303 (GRCm39)	C301S	probably damaging	Het
Zfp976	T	C	7: 42,262,041 (GRCm39)	T600A	unknown	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
IGL01728:Slc6a9	APN	4	117,721,802 (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
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

Predicted Primers

PCR Primer
(F):5'- TACATTGGCATCTACTACAACGTG -3'
(R):5'- GTAAGGACTCCCAGTTCACCTC -3'

Sequencing Primer
(F):5'- ACAACGTGGTCATCTGCATCG -3'
(R):5'- ACGGCCCTCTGCATATCTG -3'

Posted On

2022-08-09