Mutagenetix > Incidental Mutation

Incidental Mutation 'R5090:Fra10ac1'

387728

Institutional Source

Beutler Lab

Gene Symbol

Fra10ac1

Ensembl Gene

ENSMUSG00000054237

Gene Name

FRA10A associated CGG repeat 1

Synonyms

5730455O13Rik

MMRRC Submission

042679-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R5090 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

38176929-38212604 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38202873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 110 (R110Q)

Ref Sequence

ENSEMBL: ENSMUSP00000070534 (fasta)

Gene Model

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

AlphaFold

Q8BP78

Predicted Effect

probably damaging
Transcript: ENSMUST00000067167
AA Change: R110Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070534
Gene: ENSMUSG00000054237
AA Change: R110Q

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: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

99% (66/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,984,422 (GRCm39)	S1168G	probably damaging	Het
Acsf2	A	T	11: 94,462,095 (GRCm39)		probably null	Het
Ankk1	G	T	9: 49,333,063 (GRCm39)	S140R	probably damaging	Het
Ash1l	G	T	3: 88,960,184 (GRCm39)	K2305N	probably damaging	Het
Asnsd1	C	T	1: 53,391,563 (GRCm39)		probably benign	Het
Atxn7l1	T	C	12: 33,376,077 (GRCm39)	S51P	probably damaging	Het
Ccdc88c	A	G	12: 100,920,439 (GRCm39)	L394P	probably damaging	Het
Cd200r1	T	A	16: 44,609,924 (GRCm39)	S48T	possibly damaging	Het
Cemip	T	C	7: 83,591,343 (GRCm39)	E1243G	probably damaging	Het
Cep192	T	A	18: 67,993,617 (GRCm39)	H1977Q	possibly damaging	Het
Cep250	T	C	2: 155,818,324 (GRCm39)	L833P	probably damaging	Het
Chd9	C	A	8: 91,753,462 (GRCm39)	Y1818*	probably null	Het
Clca3a1	C	A	3: 144,443,633 (GRCm39)	V706L	probably benign	Het
Cntln	T	C	4: 84,865,830 (GRCm39)	V162A	probably damaging	Het
Col5a1	G	A	2: 27,908,614 (GRCm39)	W67*	probably null	Het
Cux1	T	A	5: 136,342,054 (GRCm39)	N446I	possibly damaging	Het
Dlg1	G	T	16: 31,656,902 (GRCm39)	G599W	probably damaging	Het
Dock7	C	T	4: 98,879,648 (GRCm39)	V969I	probably benign	Het
Ephb3	T	C	16: 21,033,237 (GRCm39)	C74R	probably damaging	Het
Fads6	T	A	11: 115,187,480 (GRCm39)	T72S	probably benign	Het
Gdf3	T	A	6: 122,586,713 (GRCm39)	L71F	probably benign	Het
Gm6685	A	G	11: 28,289,253 (GRCm39)	Y188H	probably benign	Het
Gm6981	A	C	9: 51,914,142 (GRCm39)		noncoding transcript	Het
Gnpda1	T	C	18: 38,465,146 (GRCm39)	T157A	probably damaging	Het
Grap2	A	C	15: 80,522,683 (GRCm39)	N70H	possibly damaging	Het
Gvin3	T	A	7: 106,200,109 (GRCm39)		noncoding transcript	Het
Hdac5	G	A	11: 102,088,539 (GRCm39)	R887C	probably damaging	Het
Hectd3	T	A	4: 116,857,435 (GRCm39)		probably benign	Het
Hmgcr	T	C	13: 96,787,098 (GRCm39)	K162E	probably benign	Het
Inpp5e	A	T	2: 26,289,383 (GRCm39)		probably null	Het
Kifap3	A	G	1: 163,683,645 (GRCm39)	D442G	possibly damaging	Het
Lama3	A	G	18: 12,675,459 (GRCm39)	T1015A	possibly damaging	Het
Lcp2	T	A	11: 34,039,725 (GRCm39)	Y508*	probably null	Het
Map1b	G	T	13: 99,566,534 (GRCm39)	Y2062*	probably null	Het
Mipep	A	G	14: 61,039,748 (GRCm39)	D259G	possibly damaging	Het
Mmp2	T	C	8: 93,579,202 (GRCm39)	F97S	probably damaging	Het
Mrpl18	A	C	17: 13,132,697 (GRCm39)	M144R	probably damaging	Het
Nek9	A	G	12: 85,376,616 (GRCm39)		probably null	Het
Nmral1	A	T	16: 4,532,395 (GRCm39)	Y139N	probably damaging	Het
Notch4	T	C	17: 34,799,894 (GRCm39)	C952R	probably damaging	Het
Nsf	T	C	11: 103,801,404 (GRCm39)	N204D	probably benign	Het
P2rx4	A	T	5: 122,863,118 (GRCm39)	D197V	probably damaging	Het
Pak5	A	T	2: 135,929,338 (GRCm39)	I615N	probably damaging	Het
Parp10	T	C	15: 76,125,925 (GRCm39)	D421G	probably damaging	Het
Pcdha6	A	T	18: 37,101,770 (GRCm39)	D321V	probably benign	Het
Pkhd1	T	A	1: 20,270,981 (GRCm39)	I3191F	probably damaging	Het
Psmd4	T	C	3: 94,942,559 (GRCm39)	N7S	possibly damaging	Het
Ptprq	A	G	10: 107,361,950 (GRCm39)	V2084A	probably damaging	Het
Rab3gap1	A	G	1: 127,843,415 (GRCm39)	E263G	probably benign	Het
Rbm5	A	G	9: 107,637,511 (GRCm39)		probably benign	Het
Sacs	T	C	14: 61,442,702 (GRCm39)	F1583L	probably damaging	Het
Sel1l3	G	T	5: 53,357,388 (GRCm39)	H201Q	probably benign	Het
Shoc1	T	C	4: 59,111,108 (GRCm39)	T55A	unknown	Het
Tdpoz3	T	A	3: 93,733,870 (GRCm39)	W182R	possibly damaging	Het
Trim55	A	G	3: 19,725,771 (GRCm39)	N313S	probably benign	Het
Usp17lb	A	T	7: 104,490,290 (GRCm39)	D212E	probably benign	Het
Xirp2	A	G	2: 67,355,814 (GRCm39)	E3525G	possibly damaging	Het
Zfp236	T	C	18: 82,637,006 (GRCm39)	T1379A	probably benign	Het
Zfp553	A	T	7: 126,834,659 (GRCm39)	E71D	probably damaging	Het
Znrf1	T	G	8: 112,265,035 (GRCm39)	F21V	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
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

Predicted Primers

Posted On

2016-06-06