Mutagenetix > Incidental Mutation

Incidental Mutation 'R6716:Slc50a1'

529394

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

044834-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89175553-89177877 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89177214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 68 (T68A)

Ref Sequence

ENSEMBL: ENSMUSP00000029565 (fasta)

Gene Model

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

AlphaFold

Q9CXK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000029565
AA Change: T68A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029565
Gene: ENSMUSG00000027953
AA Change: T68A

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

possibly damaging
Transcript: ENSMUST00000107460
AA Change: T68A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103084
Gene: ENSMUSG00000027953
AA Change: T68A

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: T36A

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123276
Gene: ENSMUSG00000027953
AA Change: T36A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000185119

SMART Domains

Protein: ENSMUSP00000139128
Gene: ENSMUSG00000027953

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144777

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp7	C	T	2: 172,714,682 (GRCm39)	A376T	probably damaging	Het
Bnip2	T	C	9: 69,910,943 (GRCm39)	I296T	probably damaging	Het
Chrm2	T	A	6: 36,501,370 (GRCm39)	I409N	probably damaging	Het
Fat3	T	A	9: 15,830,565 (GRCm39)	T4310S	probably benign	Het
Kdm2a	A	G	19: 4,379,130 (GRCm39)	S122P	probably damaging	Het
Krt20	T	C	11: 99,322,754 (GRCm39)	T294A	possibly damaging	Het
Macf1	C	T	4: 123,402,231 (GRCm39)	S635N	probably damaging	Het
Nphs2	A	G	1: 156,148,637 (GRCm39)	S242G	probably benign	Het
Prss23	A	C	7: 89,159,055 (GRCm39)	I338S	probably damaging	Het
Rab11fip3	G	T	17: 26,210,031 (GRCm39)	S1028R	probably damaging	Het
Rlig1	T	G	10: 100,409,478 (GRCm39)	I312L	probably benign	Het
Sec23a	C	T	12: 59,015,609 (GRCm39)	G711D	probably benign	Het
Sphkap	C	T	1: 83,339,949 (GRCm39)		probably null	Het
Tas2r122	A	T	6: 132,688,860 (GRCm39)	I11N	probably damaging	Het
Tpr	C	T	1: 150,290,516 (GRCm39)	R782C	probably damaging	Het
Vps13c	T	C	9: 67,858,749 (GRCm39)	L2733P	probably benign	Het
Vtn	C	T	11: 78,391,052 (GRCm39)	R211C	probably damaging	Het
Xrcc1	T	C	7: 24,266,571 (GRCm39)		probably null	Het
Zc2hc1b	T	C	10: 13,047,027 (GRCm39)	D28G	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
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

Predicted Primers

PCR Primer
(F):5'- ACTTCATGGGCAGGAGAACC -3'
(R):5'- GCCTTTTCTCACCACGGATG -3'

Sequencing Primer
(F):5'- CCTTCTAGGAAAGGGAATTAATGCC -3'
(R):5'- TTCTCACCACGGATGTCAAGTGAG -3'

Posted On

2018-08-01