Mutagenetix > Incidental Mutation

Incidental Mutation 'R3843:Slc50a1'

277236

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

040783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3843 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89175553-89177877 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89177207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 70 (I70N)

Ref Sequence

ENSEMBL: ENSMUSP00000103084 (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: I70N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029565
Gene: ENSMUSG00000027953
AA Change: I70N

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 damaging
Transcript: ENSMUST00000107460
AA Change: I70N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103084
Gene: ENSMUSG00000027953
AA Change: I70N

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

noncoding transcript
Transcript: ENSMUST00000148095

Predicted Effect

probably damaging
Transcript: ENSMUST00000130230
AA Change: I38N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123276
Gene: ENSMUSG00000027953
AA Change: I38N

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: ENSMUST00000130690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137975

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

Meta Mutation Damage Score

0.7076

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,092,495 (GRCm39)	Y168*	probably null	Het
Amt	C	T	9: 108,174,420 (GRCm39)	R62C	possibly damaging	Het
Arid2	C	T	15: 96,249,721 (GRCm39)	T145I	possibly damaging	Het
Ccdc8	T	C	7: 16,729,039 (GRCm39)	V176A	probably damaging	Het
Cdhr1	G	T	14: 36,806,884 (GRCm39)	F440L	probably benign	Het
Ckap2	A	T	8: 22,665,774 (GRCm39)	N424K	probably damaging	Het
Col6a1	C	T	10: 76,547,175 (GRCm39)	R730H	unknown	Het
Dennd1b	C	A	1: 138,981,092 (GRCm39)	P102Q	probably damaging	Het
E2f1	A	G	2: 154,402,748 (GRCm39)	S340P	probably benign	Het
Eef1akmt2	C	T	7: 132,433,305 (GRCm39)	V134I	probably damaging	Het
Elp3	A	T	14: 65,802,932 (GRCm39)		probably null	Het
Grap	T	G	11: 61,551,151 (GRCm39)		probably null	Het
Heatr1	T	C	13: 12,450,002 (GRCm39)	Y1999H	probably benign	Het
Hectd4	G	T	5: 121,397,936 (GRCm39)	W288L	possibly damaging	Het
Hnf4g	G	A	3: 3,716,362 (GRCm39)	C262Y	probably benign	Het
Hrh4	A	G	18: 13,155,343 (GRCm39)	Y294C	possibly damaging	Het
Igkv5-39	C	A	6: 69,877,526 (GRCm39)	G77W	probably damaging	Het
Kdm2b	A	T	5: 123,072,856 (GRCm39)	Y341N	probably damaging	Het
Kif26b	T	C	1: 178,755,742 (GRCm39)	L1952P	probably damaging	Het
Lgr4	C	T	2: 109,827,118 (GRCm39)		probably benign	Het
Nlrc3	G	A	16: 3,782,828 (GRCm39)	R194W	probably benign	Het
Nup214	T	C	2: 31,941,112 (GRCm39)	F547L	probably damaging	Het
Or5m3	A	G	2: 85,838,548 (GRCm39)	I143V	probably benign	Het
Pdp1	T	C	4: 11,961,961 (GRCm39)	K117E	probably benign	Het
Phtf2	G	A	5: 20,979,020 (GRCm39)	A31V	probably damaging	Het
Pip4p2	T	A	4: 14,886,553 (GRCm39)	Y42*	probably null	Het
Pkhd1	A	T	1: 20,628,947 (GRCm39)	C667S	probably benign	Het
Pnp2	T	A	14: 51,200,878 (GRCm39)	L121Q	probably null	Het
Ppfia1	C	T	7: 144,058,707 (GRCm39)	R698Q	probably benign	Het
Sidt1	A	T	16: 44,104,587 (GRCm39)	F275I	probably benign	Het
Sytl2	C	G	7: 90,009,367 (GRCm39)	T123R	possibly damaging	Het
Tlk1	T	A	2: 70,579,671 (GRCm39)	T214S	probably benign	Het
Tmco3	A	G	8: 13,346,114 (GRCm39)		probably benign	Het
Trim71	T	C	9: 114,344,914 (GRCm39)	T335A	probably benign	Het
Zbtb47	T	A	9: 121,592,499 (GRCm39)	V273E	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AAAGGGTTGACTTCATGGGCAG -3'
(R):5'- CACCACGGATGTCAAGTGAG -3'

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

Posted On

2015-04-06