Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03406:Slc50a1'

421613

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03406

Quality Score

Status

Chromosome

Chromosomal Location

89175553-89177877 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89177408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 40 (D40G)

Ref Sequence

ENSEMBL: ENSMUSP00000139128 (fasta)

Gene Model

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

AlphaFold

Q9CXK4

Predicted Effect

probably benign
Transcript: ENSMUST00000029565
AA Change: D40G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029565
Gene: ENSMUSG00000027953
AA Change: D40G

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: D40G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000103084
Gene: ENSMUSG00000027953
AA Change: D40G

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: ENSMUST00000130230
AA Change: D8G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123276
Gene: ENSMUSG00000027953
AA Change: D8G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185119
AA Change: D40G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139128
Gene: ENSMUSG00000027953
AA Change: D40G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144777

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530016L24Rik	T	A	12: 112,463,317 (GRCm39)		probably null	Het
Adcy7	C	T	8: 89,044,947 (GRCm39)	R228*	probably null	Het
Cdcp1	T	C	9: 123,014,378 (GRCm39)	H132R	probably benign	Het
Cfap107	A	G	4: 144,150,414 (GRCm39)	Y56H	probably damaging	Het
Cyp4a32	T	C	4: 115,459,500 (GRCm39)	I78T	probably benign	Het
Fap	A	T	2: 62,372,466 (GRCm39)		probably benign	Het
Gad1-ps	C	T	10: 99,280,641 (GRCm39)		noncoding transcript	Het
Gli3	T	C	13: 15,823,166 (GRCm39)	I296T	probably damaging	Het
H2-Q2	T	C	17: 35,561,801 (GRCm39)	V97A	probably benign	Het
Hr	T	A	14: 70,800,860 (GRCm39)		probably null	Het
Itgax	C	T	7: 127,748,370 (GRCm39)	T1133I	possibly damaging	Het
L3mbtl2	G	A	15: 81,566,194 (GRCm39)	R339H	probably damaging	Het
Mast4	T	C	13: 102,873,615 (GRCm39)	K1726E	possibly damaging	Het
Nlrc5	T	C	8: 95,203,483 (GRCm39)	Y528H	probably benign	Het
Nmnat3	G	A	9: 98,281,530 (GRCm39)	G44D	probably damaging	Het
Nol8	A	T	13: 49,815,044 (GRCm39)	D366V	probably damaging	Het
Or13a25	C	A	7: 140,247,424 (GRCm39)	L68M	probably damaging	Het
Pde4d	A	T	13: 110,091,125 (GRCm39)		probably benign	Het
Ptpn22	C	A	3: 103,819,332 (GRCm39)	N795K	probably benign	Het
Rabgap1l	A	T	1: 160,549,739 (GRCm39)	V289D	probably damaging	Het
Slco6b1	T	C	1: 96,875,310 (GRCm39)		noncoding transcript	Het
Smarcad1	T	A	6: 65,069,510 (GRCm39)	F530Y	probably damaging	Het
Spag6	A	G	2: 18,747,684 (GRCm39)		probably benign	Het
Supt16	A	T	14: 52,415,598 (GRCm39)	I379N	possibly damaging	Het
Tmem154	A	G	3: 84,591,567 (GRCm39)	N39S	probably benign	Het
Ubash3b	T	A	9: 40,948,775 (GRCm39)	Y180F	probably damaging	Het
Usp48	T	A	4: 137,366,606 (GRCm39)	D921E	possibly damaging	Het
Zdhhc20	T	C	14: 58,076,556 (GRCm39)	T366A	probably benign	Het
Zfp456	A	T	13: 67,514,450 (GRCm39)	C419S	probably damaging	Het
Zfp69	T	C	4: 120,788,281 (GRCm39)	T345A	probably benign	Het

Other mutations in Slc50a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
Y4338:Slc50a1	UTSW	3	89,177,417 (GRCm39)	missense	possibly damaging	0.71

Posted On

2016-08-02