Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00685:Fra10ac1'

10814

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fra10ac1

Ensembl Gene

ENSMUSG00000054237

Gene Name

FRA10A associated CGG repeat 1

Synonyms

5730455O13Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

IGL00685

Quality Score

Status

Chromosome

Chromosomal Location

38176929-38212604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38190012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 217 (K217N)

Ref Sequence

ENSEMBL: ENSMUSP00000070534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067167]

AlphaFold

Q8BP78

Predicted Effect

probably damaging
Transcript: ENSMUST00000067167
AA Change: K217N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070534
Gene: ENSMUSG00000054237
AA Change: K217N

Domain	Start	End	E-Value	Type
Pfam:Fra10Ac1	104	220	7e-56	PFAM
low complexity region	228	237	N/A	INTRINSIC
low complexity region	242	255	N/A	INTRINSIC
low complexity region	278	288	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 5 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Foxn2	T	C	17: 88,770,305 (GRCm39)	S51P	probably benign	Het
Klra9	T	A	6: 130,159,369 (GRCm39)	I215F	probably damaging	Het
Manea	A	G	4: 26,340,578 (GRCm39)	L128P	probably damaging	Het
Odf2l	A	T	3: 144,833,634 (GRCm39)	N138Y	possibly damaging	Het
Tas2r102	A	G	6: 132,739,488 (GRCm39)	N132S	possibly damaging	Het

Other mutations in Fra10ac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Fra10ac1	APN	19	38,208,125 (GRCm39)	missense	probably benign	0.32
IGL03396:Fra10ac1	APN	19	38,189,994 (GRCm39)	critical splice donor site	probably null
R4349:Fra10ac1	UTSW	19	38,188,053 (GRCm39)	missense	probably benign	0.00
R5090:Fra10ac1	UTSW	19	38,202,873 (GRCm39)	missense	probably damaging	1.00
R5234:Fra10ac1	UTSW	19	38,204,294 (GRCm39)	missense	probably damaging	1.00
R5259:Fra10ac1	UTSW	19	38,188,110 (GRCm39)	missense	probably benign	0.00
R5445:Fra10ac1	UTSW	19	38,207,910 (GRCm39)	missense	possibly damaging	0.82
R5768:Fra10ac1	UTSW	19	38,195,734 (GRCm39)	missense	probably benign	0.02
R6756:Fra10ac1	UTSW	19	38,204,313 (GRCm39)	missense	probably damaging	1.00
R6831:Fra10ac1	UTSW	19	38,195,737 (GRCm39)	missense	probably benign	0.38
R7011:Fra10ac1	UTSW	19	38,177,242 (GRCm39)	missense	probably benign	0.11
R7054:Fra10ac1	UTSW	19	38,212,567 (GRCm39)	start gained	probably benign
R7530:Fra10ac1	UTSW	19	38,204,353 (GRCm39)	nonsense	probably null
R7561:Fra10ac1	UTSW	19	38,210,324 (GRCm39)	missense	probably damaging	1.00
R7715:Fra10ac1	UTSW	19	38,178,286 (GRCm39)	missense	probably damaging	1.00
R9108:Fra10ac1	UTSW	19	38,202,779 (GRCm39)	intron	probably benign

Posted On

2012-12-06