Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03396:Fra10ac1'

421279

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: 0.892) question?

Stock #

IGL03396

Quality Score

Status

Chromosome

Chromosomal Location

38176929-38212604 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 38189994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070534 (fasta)

Gene Model

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

AlphaFold

Q8BP78

Predicted Effect

probably null
Transcript: ENSMUST00000067167

SMART Domains

Protein: ENSMUSP00000070534
Gene: ENSMUSG00000054237

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	G	A	11: 69,902,239 (GRCm39)	R457*	probably null	Het
Arl5b	C	A	2: 15,079,915 (GRCm39)	T153K	probably damaging	Het
Arsb	A	T	13: 94,075,825 (GRCm39)	Y436F	probably benign	Het
Azgp1	C	T	5: 137,983,445 (GRCm39)	P40L	possibly damaging	Het
B020004C17Rik	A	G	14: 57,253,993 (GRCm39)	T39A	possibly damaging	Het
Cacna2d3	G	A	14: 29,442,834 (GRCm39)	Q67*	probably null	Het
Cdcp2	C	A	4: 106,964,369 (GRCm39)	Y406*	probably null	Het
Cep89	T	A	7: 35,128,603 (GRCm39)	D585E	probably benign	Het
Cfap65	A	G	1: 74,943,801 (GRCm39)	F1570S	probably damaging	Het
Cnfn	A	G	7: 25,067,783 (GRCm39)		probably benign	Het
Fgd6	G	A	10: 93,880,318 (GRCm39)	V391I	probably benign	Het
Gjd3	T	C	11: 102,691,353 (GRCm39)	K217E	probably benign	Het
Il20rb	T	C	9: 100,341,251 (GRCm39)	E285G	probably damaging	Het
Ints2	T	C	11: 86,103,888 (GRCm39)	T1086A	probably damaging	Het
Itih4	A	T	14: 30,609,906 (GRCm39)	I79F	probably damaging	Het
Jmjd6	A	T	11: 116,732,077 (GRCm39)	L208H	probably damaging	Het
Lilrb4b	A	G	10: 51,357,253 (GRCm39)	I30V	possibly damaging	Het
Limch1	A	G	5: 67,111,016 (GRCm39)	N81S	probably damaging	Het
Mettl21e	A	T	1: 44,245,759 (GRCm39)	N162K	possibly damaging	Het
Ninl	A	G	2: 150,808,132 (GRCm39)	S299P	possibly damaging	Het
Obscn	A	G	11: 58,964,404 (GRCm39)	L3046P	probably benign	Het
Or1j14	C	A	2: 36,417,692 (GRCm39)	S89R	probably benign	Het
Or5b98	T	A	19: 12,931,184 (GRCm39)	V77E	probably damaging	Het
Or6c68	A	G	10: 129,157,916 (GRCm39)	I141M	probably benign	Het
Pnpla8	G	A	12: 44,330,309 (GRCm39)	R287H	probably benign	Het
Pot1a	A	C	6: 25,745,913 (GRCm39)	I596R	possibly damaging	Het
Prkaa1	A	G	15: 5,206,131 (GRCm39)	D329G	probably damaging	Het
Ptprr	T	G	10: 116,024,235 (GRCm39)	V182G	probably damaging	Het
Rrp1b	T	A	17: 32,276,237 (GRCm39)		probably benign	Het
Sec24a	A	G	11: 51,599,794 (GRCm39)	V837A	probably benign	Het
Slc17a6	A	G	7: 51,318,840 (GRCm39)	Y494C	probably damaging	Het
Slc38a10	A	T	11: 120,019,301 (GRCm39)	I360N	probably damaging	Het
Snrpb2	T	C	2: 142,913,377 (GRCm39)	F194L	possibly damaging	Het
Tcam1	A	G	11: 106,176,212 (GRCm39)	I313V	probably benign	Het
Trpv1	A	G	11: 73,143,882 (GRCm39)	N238S	probably benign	Het
Usp20	T	C	2: 30,901,729 (GRCm39)	V498A	probably benign	Het
Vmn2r23	T	C	6: 123,706,585 (GRCm39)	S472P	probably damaging	Het
Vmn2r98	A	T	17: 19,290,107 (GRCm39)	T548S	possibly damaging	Het
Zfp429	A	T	13: 67,544,159 (GRCm39)		probably benign	Het

Other mutations in Fra10ac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00685:Fra10ac1	APN	19	38,190,012 (GRCm39)	missense	probably damaging	0.99
IGL01784:Fra10ac1	APN	19	38,208,125 (GRCm39)	missense	probably benign	0.32
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

2016-08-02