Mutagenetix > Incidental Mutation

Incidental Mutation 'R9108:Fra10ac1'

731274

Institutional Source

Beutler Lab

Gene Symbol

Fra10ac1

Ensembl Gene

ENSMUSG00000054237

Gene Name

FRA10A associated CGG repeat 1

Synonyms

5730455O13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R9108 (G1)

Quality Score

168.009

Status

Validated

Chromosome

Chromosomal Location

38176929-38212604 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 38202779 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 benign
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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	A	18: 6,638,794 (GRCm39)	V398M	probably benign	Het
4930568D16Rik	G	A	2: 35,244,942 (GRCm39)	P137S	probably damaging	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Abcg8	A	C	17: 85,000,243 (GRCm39)	I268L	probably benign	Het
Acvrl1	A	G	15: 101,039,038 (GRCm39)	Q445R	probably damaging	Het
Adam17	T	C	12: 21,380,132 (GRCm39)	N625D	probably benign	Het
Adamts9	C	T	6: 92,857,721 (GRCm39)	V856M	probably damaging	Het
Adar	T	C	3: 89,643,474 (GRCm39)	C452R	probably damaging	Het
Adgra3	G	T	5: 50,136,295 (GRCm39)	A730D	probably damaging	Het
Adnp2	C	T	18: 80,185,925 (GRCm39)	R16Q	probably damaging	Het
Aox1	T	C	1: 58,321,851 (GRCm39)	C48R	probably damaging	Het
Cabin1	T	C	10: 75,492,973 (GRCm39)	E1774G	possibly damaging	Het
Capsl	A	T	15: 9,465,910 (GRCm39)	I199F	possibly damaging	Het
Ccdc191	T	A	16: 43,718,512 (GRCm39)	D36E	possibly damaging	Het
Cep170	T	A	1: 176,616,051 (GRCm39)	K86*	probably null	Het
Cnnm1	T	C	19: 43,464,649 (GRCm39)	F736S	possibly damaging	Het
Col11a2	T	A	17: 34,276,634 (GRCm39)	V532E	probably benign	Het
Dnmt3l	T	C	10: 77,892,756 (GRCm39)		probably null	Het
Dync1h1	T	A	12: 110,622,706 (GRCm39)		probably benign	Het
Dzank1	C	A	2: 144,364,391 (GRCm39)	V69L	probably benign	Het
Epor	T	G	9: 21,870,875 (GRCm39)	E335A	probably damaging	Het
Fbxo46	A	T	7: 18,870,308 (GRCm39)	Y309F	probably damaging	Het
Gid8	G	T	2: 180,352,132 (GRCm39)		probably benign	Het
Gm57858	T	G	3: 36,080,036 (GRCm39)	*240C	probably null	Het
Gnptab	C	T	10: 88,269,400 (GRCm39)	S701L		Het
Ifnl3	T	C	7: 28,223,704 (GRCm39)	L180P	probably benign	Het
Ikzf2	T	A	1: 69,577,956 (GRCm39)	I518F	probably damaging	Het
Ildr1	A	G	16: 36,535,919 (GRCm39)	T145A	probably benign	Het
Kiss1r	A	T	10: 79,754,336 (GRCm39)		probably benign	Het
Lhpp	A	G	7: 132,252,018 (GRCm39)	D219G	probably damaging	Het
Lrp1	A	T	10: 127,390,206 (GRCm39)	M3071K	probably damaging	Het
Map6	T	C	7: 98,986,103 (GRCm39)	L872P	probably damaging	Het
Mgst2	T	A	3: 51,589,233 (GRCm39)	L82Q	probably damaging	Het
Mier2	A	T	10: 79,377,756 (GRCm39)	V399E	probably benign	Het
Nms	T	C	1: 38,985,147 (GRCm39)	V91A	possibly damaging	Het
Nt5dc2	T	A	14: 30,857,016 (GRCm39)	Y145*	probably null	Het
Olfml2a	A	T	2: 38,831,753 (GRCm39)	M111L	probably benign	Het
Or5p63	T	C	7: 107,810,846 (GRCm39)	N297D	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,779 (GRCm39)	L172Q	unknown	Het
Plod3	T	C	5: 137,018,017 (GRCm39)	I221T	probably damaging	Het
Polm	T	C	11: 5,779,872 (GRCm39)	Q342R	probably benign	Het
Ppp2r5c	A	T	12: 110,521,303 (GRCm39)	L275F	probably damaging	Het
Prdm12	C	T	2: 31,533,929 (GRCm39)	T182M	possibly damaging	Het
Rasgrp2	G	A	19: 6,458,890 (GRCm39)	V440M	probably damaging	Het
Rnf111	C	T	9: 70,336,846 (GRCm39)	G947D	probably damaging	Het
Runx3	A	T	4: 134,882,692 (GRCm39)	M143L	probably damaging	Het
Samd9l	T	C	6: 3,373,104 (GRCm39)	S1386G	possibly damaging	Het
Saxo2	C	T	7: 82,284,082 (GRCm39)	V259I	probably benign	Het
Shroom3	T	C	5: 93,087,975 (GRCm39)	S242P	probably damaging	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Spata31d1a	A	G	13: 59,850,982 (GRCm39)	V382A	probably benign	Het
Tanc2	T	A	11: 105,810,580 (GRCm39)		probably benign	Het
Tenm3	A	T	8: 48,766,271 (GRCm39)		probably null	Het
Trip10	C	T	17: 57,560,519 (GRCm39)	A123V	probably damaging	Het
Trmt13	A	G	3: 116,375,129 (GRCm39)	S460P	probably damaging	Het
Trpd52l3	A	G	19: 29,981,329 (GRCm39)	N28S	probably benign	Het
Tubb4a	A	G	17: 57,388,232 (GRCm39)	F265L	probably benign	Het
Uba6	A	T	5: 86,282,934 (GRCm39)	C581S	possibly damaging	Het
Uckl1	A	G	2: 181,211,293 (GRCm39)	V512A	probably damaging	Het
Usp34	A	T	11: 23,320,528 (GRCm39)	M957L		Het
Vmn2r57	T	C	7: 41,078,192 (GRCm39)	I89V	possibly damaging	Het
Zfp1005	T	A	2: 150,109,969 (GRCm39)	C220S	possibly damaging	Het
Zfp322a	T	C	13: 23,541,437 (GRCm39)	I102V	probably benign	Het
Zzef1	A	G	11: 72,790,604 (GRCm39)	D2186G	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
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

Predicted Primers

PCR Primer
(F):5'- GACGCTATTGGCTAAAATCACC -3'
(R):5'- GAACTCACTCCTTTCTTGCAAG -3'

Sequencing Primer
(F):5'- GCTATTGGCTAAAATCACCAAGTCTC -3'
(R):5'- CAAAACTTTCAGCAATGTTTAGCC -3'

Posted On

2022-10-10