Mutagenetix > Incidental Mutation

Incidental Mutation 'Y4338:Slc50a1'

197508

Institutional Source

Beutler Lab

Gene Symbol

Slc50a1

Ensembl Gene

ENSMUSG00000027953

Gene Name

solute carrier family 50 (sugar transporter), member 1

Synonyms

Rag1ap1, Rga

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

Y4338 ()

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

89175553-89177877 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89177417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 37 (R37Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139128 (fasta)

Gene Model

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

AlphaFold

Q9CXK4

Predicted Effect

probably benign
Transcript: ENSMUST00000029565
AA Change: R37Q

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029565
Gene: ENSMUSG00000027953
AA Change: R37Q

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 benign
Transcript: ENSMUST00000107460
AA Change: R37Q

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000103084
Gene: ENSMUSG00000027953
AA Change: R37Q

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

possibly damaging
Transcript: ENSMUST00000185119
AA Change: R37Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139128
Gene: ENSMUSG00000027953
AA Change: R37Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130230
AA Change: R5Q

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123276
Gene: ENSMUSG00000027953
AA Change: R5Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130690

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Zfp24	C	T	18: 24,150,912 (GRCm39)	R78H	possibly damaging	Het
Zfp24	G	C	18: 24,150,925 (GRCm39)	R74G	probably damaging	Het
Zik1	G	A	7: 10,224,312 (GRCm39)	R262C	probably damaging	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
R8287: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

Predicted Primers

Posted On

2014-05-23