Mutagenetix > Incidental Mutation

Incidental Mutation 'R0756:Slc45a1'

69476

Institutional Source

Beutler Lab

Gene Symbol

Slc45a1

Ensembl Gene

ENSMUSG00000039838

Gene Name

solute carrier family 45, member 1

Synonyms

Dnb5

MMRRC Submission

038936-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R0756 (G1)

Quality Score

135

Status

Not validated

Chromosome

Chromosomal Location

150713052-150736631 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

GTT to GT at 150727054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037827] [ENSMUST00000117997]

AlphaFold

Q8BIV7

Predicted Effect

probably null
Transcript: ENSMUST00000037827

SMART Domains

Protein: ENSMUSP00000036774
Gene: ENSMUSG00000039838

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
Pfam:MFS_2	86	310	7.3e-11	PFAM
Pfam:MFS_1	92	356	1.4e-12	PFAM
transmembrane domain	529	551	N/A	INTRINSIC
transmembrane domain	575	597	N/A	INTRINSIC
transmembrane domain	604	626	N/A	INTRINSIC
transmembrane domain	631	653	N/A	INTRINSIC
transmembrane domain	680	702	N/A	INTRINSIC
transmembrane domain	712	734	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000117997

SMART Domains

Protein: ENSMUSP00000112737
Gene: ENSMUSG00000039838

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
Pfam:MFS_2	87	307	1.6e-12	PFAM
Pfam:MFS_1	92	362	2.4e-12	PFAM
transmembrane domain	529	551	N/A	INTRINSIC
transmembrane domain	575	597	N/A	INTRINSIC
transmembrane domain	604	626	N/A	INTRINSIC
transmembrane domain	631	653	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147706

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 2 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Speer4d	G	C	5: 15,824,274 (GRCm39)		probably null	Het
Tll2	G	A	19: 41,108,667 (GRCm39)	R328C	probably damaging	Het

Other mutations in Slc45a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:Slc45a1	APN	4	150,728,426 (GRCm39)	missense	probably damaging	1.00
IGL02009:Slc45a1	APN	4	150,722,447 (GRCm39)	missense	probably damaging	1.00
IGL02251:Slc45a1	APN	4	150,723,176 (GRCm39)	splice site	probably benign
IGL02752:Slc45a1	APN	4	150,722,478 (GRCm39)	missense	probably benign	0.01
IGL02881:Slc45a1	APN	4	150,722,987 (GRCm39)	missense	probably benign	0.36
PIT4508001:Slc45a1	UTSW	4	150,722,892 (GRCm39)	missense	probably benign	0.00
R0017:Slc45a1	UTSW	4	150,714,023 (GRCm39)	missense	possibly damaging	0.56
R0017:Slc45a1	UTSW	4	150,714,023 (GRCm39)	missense	possibly damaging	0.56
R0449:Slc45a1	UTSW	4	150,727,762 (GRCm39)	missense	probably damaging	1.00
R1435:Slc45a1	UTSW	4	150,728,505 (GRCm39)	missense	probably damaging	1.00
R1837:Slc45a1	UTSW	4	150,722,916 (GRCm39)	missense	probably benign	0.00
R1943:Slc45a1	UTSW	4	150,728,734 (GRCm39)	missense	probably benign	0.02
R2186:Slc45a1	UTSW	4	150,722,708 (GRCm39)	missense	probably benign	0.01
R3766:Slc45a1	UTSW	4	150,722,517 (GRCm39)	missense	probably damaging	1.00
R4689:Slc45a1	UTSW	4	150,722,996 (GRCm39)	missense	probably benign	0.31
R4697:Slc45a1	UTSW	4	150,722,741 (GRCm39)	missense	probably damaging	1.00
R4709:Slc45a1	UTSW	4	150,722,697 (GRCm39)	missense	probably benign	0.04
R5253:Slc45a1	UTSW	4	150,722,727 (GRCm39)	missense	probably damaging	0.98
R5387:Slc45a1	UTSW	4	150,728,366 (GRCm39)	intron	probably benign
R5914:Slc45a1	UTSW	4	150,713,997 (GRCm39)	missense	possibly damaging	0.57
R6259:Slc45a1	UTSW	4	150,722,817 (GRCm39)	missense	possibly damaging	0.63
R6290:Slc45a1	UTSW	4	150,727,096 (GRCm39)	missense	probably damaging	1.00
R6961:Slc45a1	UTSW	4	150,714,110 (GRCm39)	missense	probably damaging	0.99
R6981:Slc45a1	UTSW	4	150,723,051 (GRCm39)	missense	possibly damaging	0.48
R7099:Slc45a1	UTSW	4	150,714,030 (GRCm39)	missense	probably benign	0.00
R7209:Slc45a1	UTSW	4	150,719,669 (GRCm39)	splice site	probably null
R7601:Slc45a1	UTSW	4	150,713,994 (GRCm39)	missense	possibly damaging	0.78
R7615:Slc45a1	UTSW	4	150,723,002 (GRCm39)	missense	probably benign	0.01
R7730:Slc45a1	UTSW	4	150,715,397 (GRCm39)	missense	probably damaging	1.00
R7750:Slc45a1	UTSW	4	150,728,498 (GRCm39)	missense	probably damaging	1.00
R8022:Slc45a1	UTSW	4	150,722,766 (GRCm39)	missense	possibly damaging	0.71
R8768:Slc45a1	UTSW	4	150,714,206 (GRCm39)	missense	probably damaging	0.98
R9006:Slc45a1	UTSW	4	150,722,731 (GRCm39)	missense	probably damaging	1.00
R9258:Slc45a1	UTSW	4	150,723,071 (GRCm39)	missense	possibly damaging	0.88
R9388:Slc45a1	UTSW	4	150,727,067 (GRCm39)	missense	probably damaging	1.00
R9768:Slc45a1	UTSW	4	150,722,982 (GRCm39)	missense	probably benign
X0026:Slc45a1	UTSW	4	150,728,507 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTTTAGATCCTGAGGTAAGGAAGGCG -3'
(R):5'- GCTTAATGGGATAAAAGCCCCGAGTG -3'

Sequencing Primer
(F):5'- CAGGGCACACATCTGGAC -3'
(R):5'- ccaagacctgtgaaagagcc -3'

Posted On

2013-09-30