Mutagenetix > Incidental Mutation

Incidental Mutation 'R8287:Slc50a1'

656493

Institutional Source

Beutler Lab

Gene Symbol

Slc50a1

Ensembl Gene

ENSMUSG00000027953

Gene Name

solute carrier family 50 (sugar transporter), member 1

Synonyms

Rag1ap1, Rga

MMRRC Submission

067709-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8287 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89175553-89177877 bp(-) (GRCm39)

Type of Mutation

splice site (113 bp from exon)

DNA Base Change (assembly)

G to A at 89177710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029565] [ENSMUST00000029566] [ENSMUST00000040824] [ENSMUST00000107460] [ENSMUST00000107462] [ENSMUST00000118587] [ENSMUST00000118860] [ENSMUST00000130230] [ENSMUST00000185119]

AlphaFold

Q9CXK4

Predicted Effect

probably null
Transcript: ENSMUST00000029565

SMART Domains

Protein: ENSMUSP00000029565
Gene: ENSMUSG00000027953

Domain	Start	End	E-Value	Type
Pfam:MtN3_slv	9	95	2.3e-32	PFAM
transmembrane domain	96	118	N/A	INTRINSIC
Pfam:MtN3_slv	127	213	7e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029566

SMART Domains

Protein: ENSMUSP00000029566
Gene: ENSMUSG00000027954

Domain	Start	End	E-Value	Type
Pfam:Ephrin	18	147	1.2e-45	PFAM
low complexity region	187	202	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040824

SMART Domains

Protein: ENSMUSP00000040860
Gene: ENSMUSG00000042737

Domain	Start	End	E-Value	Type
Pfam:DPM3	1	92	2.3e-34	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107460

SMART Domains

Protein: ENSMUSP00000103084
Gene: ENSMUSG00000027953

Domain	Start	End	E-Value	Type
Pfam:MtN3_slv	9	95	4.5e-33	PFAM
Pfam:MtN3_slv	92	159	6.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107462

SMART Domains

Protein: ENSMUSP00000103086
Gene: ENSMUSG00000042737

Domain	Start	End	E-Value	Type
Pfam:DPM3	1	91	3.7e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118587

SMART Domains

Protein: ENSMUSP00000112904
Gene: ENSMUSG00000027954

Domain	Start	End	E-Value	Type
Pfam:Ephrin	1	90	2.2e-34	PFAM
low complexity region	124	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118860

SMART Domains

Protein: ENSMUSP00000113098
Gene: ENSMUSG00000027954

Domain	Start	End	E-Value	Type
Pfam:Ephrin	15	153	1.4e-58	PFAM
low complexity region	165	180	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000130230

SMART Domains

Protein: ENSMUSP00000123276
Gene: ENSMUSG00000027953

Domain	Start	End	E-Value	Type
Pfam:MtN3_slv	1	63	1.7e-23	PFAM
transmembrane domain	64	86	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000185119

SMART Domains

Protein: ENSMUSP00000139128
Gene: ENSMUSG00000027953

Domain	Start	End	E-Value	Type
Pfam:MtN3_slv	9	74	1.6e-14	PFAM

Meta Mutation Damage Score

0.0731

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (27/27)

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,220,852 (GRCm39)		probably null	Het
Apcs	T	G	1: 172,721,814 (GRCm39)	L177F	possibly damaging	Het
Arsa	G	T	15: 89,357,593 (GRCm39)	H457N	probably benign	Het
Atg10	A	T	13: 91,170,799 (GRCm39)		probably benign	Het
Blnk	T	C	19: 40,917,735 (GRCm39)	Y419C	probably damaging	Het
Cdon	A	G	9: 35,375,225 (GRCm39)	D417G	probably benign	Het
Cntnap4	T	C	8: 113,585,775 (GRCm39)	S1133P	probably damaging	Het
Cops2	T	A	2: 125,701,037 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,899 (GRCm39)	M472L	probably damaging	Het
Dlg5	T	A	14: 24,214,453 (GRCm39)	Q379L	probably benign	Het
Dnah12	A	G	14: 26,534,560 (GRCm39)	I2019V	probably benign	Het
Dock7	T	C	4: 98,866,157 (GRCm39)	Y1241C	unknown	Het
Dock8	T	C	19: 25,107,825 (GRCm39)	Y852H	probably damaging	Het
Fcrlb	T	A	1: 170,739,653 (GRCm39)	Y83F	probably damaging	Het
Foxj2	G	A	6: 122,805,226 (GRCm39)	A33T	possibly damaging	Het
Gcnt2	T	C	13: 41,014,108 (GRCm39)	F93S	probably damaging	Het
Gm14180	A	G	11: 99,625,068 (GRCm39)	S17P	unknown	Het
Gucy1b2	T	C	14: 62,649,265 (GRCm39)	Q437R	probably damaging	Het
Hyou1	A	G	9: 44,299,430 (GRCm39)	D707G	probably benign	Het
Ncam2	A	G	16: 81,323,883 (GRCm39)	Q509R	probably benign	Het
Npsr1	T	C	9: 24,201,258 (GRCm39)	V214A	probably damaging	Het
Or8g51	T	C	9: 38,609,633 (GRCm39)	T14A	probably benign	Het
Speg	T	A	1: 75,398,880 (GRCm39)	M2109K	probably benign	Het
Stxbp5	T	C	10: 9,660,129 (GRCm39)	H722R	probably benign	Het
Vmn2r19	A	G	6: 123,308,588 (GRCm39)	N555S	probably damaging	Het
Xrcc1	G	A	7: 24,271,703 (GRCm39)	R562H	probably damaging	Het
Zscan18	T	G	7: 12,509,298 (GRCm39)	K67N	unknown	Het

Other mutations in Slc50a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03406:Slc50a1	APN	3	89,177,408 (GRCm39)	missense	possibly damaging	0.92
R3843:Slc50a1	UTSW	3	89,177,207 (GRCm39)	missense	probably damaging	1.00
R3964:Slc50a1	UTSW	3	89,176,093 (GRCm39)	missense	probably benign	0.00
R5877:Slc50a1	UTSW	3	89,176,460 (GRCm39)	missense	probably damaging	1.00
R6716:Slc50a1	UTSW	3	89,177,214 (GRCm39)	missense	probably damaging	0.96
R8286:Slc50a1	UTSW	3	89,177,710 (GRCm39)	splice site	probably null
R8534:Slc50a1	UTSW	3	89,177,710 (GRCm39)	splice site	probably null
R9045:Slc50a1	UTSW	3	89,176,042 (GRCm39)	missense	probably damaging	0.98
Y4338:Slc50a1	UTSW	3	89,177,417 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- TCCTGAACGACAAGCAGATC -3'
(R):5'- TGAACAGCACGATCAGGACC -3'

Sequencing Primer
(F):5'- TGAACGACAAGCAGATCTCCCC -3'
(R):5'- CCAGTTCCGGTGAAGTTCG -3'

Posted On

2020-12-02