Mutagenetix > Incidental Mutation

Incidental Mutation 'R5259:Fra10ac1'

401338

Institutional Source

Beutler Lab

Gene Symbol

Fra10ac1

Ensembl Gene

ENSMUSG00000054237

Gene Name

FRA10A associated CGG repeat 1

Synonyms

5730455O13Rik

MMRRC Submission

042856-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R5259 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38176929-38212604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38188110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 229 (S229P)

Ref Sequence

ENSEMBL: ENSMUSP00000070534 (fasta)

Gene Model

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

AlphaFold

Q8BP78

Predicted Effect

probably benign
Transcript: ENSMUST00000067167
AA Change: S229P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000070534
Gene: ENSMUSG00000054237
AA Change: S229P

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

Meta Mutation Damage Score

0.0594

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (68/68)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	C	3: 40,871,325 (GRCm39)	T50P	probably damaging	Het
Adam5	T	A	8: 25,300,850 (GRCm39)	L226F	possibly damaging	Het
Adi1	T	C	12: 28,725,544 (GRCm39)		probably benign	Het
Apc	T	C	18: 34,447,343 (GRCm39)	V1379A	probably benign	Het
Atp13a4	G	A	16: 29,275,428 (GRCm39)	T352M	probably damaging	Het
Baat	T	A	4: 49,490,070 (GRCm39)	N338I	probably benign	Het
Bdnf	A	G	2: 109,554,327 (GRCm39)	T234A	probably benign	Het
Catsperd	A	C	17: 56,967,235 (GRCm39)	T539P	possibly damaging	Het
Cd109	A	T	9: 78,617,434 (GRCm39)	T1311S	probably benign	Het
Ceacam18	T	C	7: 43,286,536 (GRCm39)		probably null	Het
Cfap96	T	C	8: 46,415,373 (GRCm39)	E211G	probably benign	Het
Cfhr4	C	T	1: 139,668,233 (GRCm39)	C300Y	probably damaging	Het
Chsy3	T	A	18: 59,543,318 (GRCm39)	S819T	probably damaging	Het
Col4a4	G	T	1: 82,431,614 (GRCm39)	R1557S	unknown	Het
Ddx18	A	G	1: 121,495,518 (GRCm39)		probably null	Het
Depdc5	C	T	5: 33,095,635 (GRCm39)	P824L	probably damaging	Het
Fam13c	C	G	10: 70,276,893 (GRCm39)	A17G	probably benign	Het
Fermt1	T	C	2: 132,748,685 (GRCm39)	Y646C	probably damaging	Het
Gbp8	A	T	5: 105,198,845 (GRCm39)	H23Q	probably benign	Het
Gdf2	T	C	14: 33,666,788 (GRCm39)	V170A	probably benign	Het
Gm15723	T	C	10: 114,652,722 (GRCm39)		noncoding transcript	Het
Gm815	G	A	19: 26,863,806 (GRCm39)	V16I	unknown	Het
Ighv1-75	T	A	12: 115,797,797 (GRCm39)	K42*	probably null	Het
Isx	A	G	8: 75,619,473 (GRCm39)	T222A	probably benign	Het
Itgax	G	A	7: 127,747,450 (GRCm39)	D1018N	probably damaging	Het
Kcnc4	A	G	3: 107,355,401 (GRCm39)	F349S	probably damaging	Het
Lama3	A	C	18: 12,598,565 (GRCm39)	S991R	probably damaging	Het
Larp4b	C	T	13: 9,208,220 (GRCm39)	A398V	probably damaging	Het
Ltbp1	A	G	17: 75,670,357 (GRCm39)	N1466S	probably benign	Het
Metrn	A	T	17: 26,015,514 (GRCm39)	L67Q	probably damaging	Het
Morc1	G	A	16: 48,451,132 (GRCm39)	R937Q	probably benign	Het
Mta3	A	G	17: 84,112,003 (GRCm39)	Y577C	probably damaging	Het
Nalcn	A	G	14: 123,753,063 (GRCm39)	F308L	possibly damaging	Het
Nat8	A	T	6: 85,807,873 (GRCm39)	S87T	probably benign	Het
Oplah	A	T	15: 76,185,410 (GRCm39)		probably null	Het
Or2ak6	A	G	11: 58,592,778 (GRCm39)	N84D	probably benign	Het
Or2ak6	A	C	11: 58,592,779 (GRCm39)	N84T	possibly damaging	Het
Or7e166	A	G	9: 19,624,109 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,232,204 (GRCm39)	I668L	possibly damaging	Het
Pecr	A	G	1: 72,316,444 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,493,956 (GRCm39)	E220G	possibly damaging	Het
Pnma8b	A	G	7: 16,679,199 (GRCm39)	K61R	unknown	Het
Prl8a6	C	T	13: 27,620,179 (GRCm39)	W81*	probably null	Het
Rab33b	C	T	3: 51,392,033 (GRCm39)		probably benign	Het
Rbm33	T	A	5: 28,557,772 (GRCm39)		probably null	Het
Relch	A	G	1: 105,649,101 (GRCm39)	S747G	probably benign	Het
Reln	C	T	5: 22,308,395 (GRCm39)	V325M	possibly damaging	Het
Rheb	A	C	5: 25,008,743 (GRCm39)	D158E	probably benign	Het
Rhebl1	T	A	15: 98,778,464 (GRCm39)		probably benign	Het
Rmdn2	T	A	17: 79,975,446 (GRCm39)	Y312N	probably damaging	Het
Scamp1	T	G	13: 94,368,594 (GRCm39)	N58T	probably benign	Het
Semp2l1	A	T	1: 32,584,598 (GRCm39)	C437*	probably null	Het
Slc35a1	C	T	4: 34,683,322 (GRCm39)	V53M	probably benign	Het
Slc35f3	A	T	8: 127,115,872 (GRCm39)	L266F	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Ticrr	T	A	7: 79,344,471 (GRCm39)	S1445R	probably benign	Het
Ttc23l	T	C	15: 10,515,236 (GRCm39)	N381D	probably damaging	Het
Usp17ld	T	A	7: 102,899,781 (GRCm39)	K384*	probably null	Het
Vmn1r20	T	A	6: 57,409,050 (GRCm39)	Y125*	probably null	Het
Zfp738	G	T	13: 67,817,805 (GRCm39)	Q729K	probably benign	Het
Zfp770	T	A	2: 114,027,674 (GRCm39)	M132L	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGGATTCTGACCAGTGCCG -3'
(R):5'- TCACTGGATATGAGTTACGTGC -3'

Sequencing Primer
(F):5'- GTGGCCGTCTGTATCTCACAC -3'
(R):5'- TGCATACTCTAGCATGGCAG -3'

Posted On

2016-07-06