Incidental Mutation 'R5768:Fra10ac1'
ID 446408
Institutional Source Beutler Lab
Gene Symbol Fra10ac1
Ensembl Gene ENSMUSG00000054237
Gene Name FRA10A associated CGG repeat 1
Synonyms 5730455O13Rik
MMRRC Submission 043368-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.892) question?
Stock # R5768 (G1)
Quality Score 104
Status Validated
Chromosome 19
Chromosomal Location 38176929-38212604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38195734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 163 (E163G)
Ref Sequence ENSEMBL: ENSMUSP00000070534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067167]
AlphaFold Q8BP78
Predicted Effect probably benign
Transcript: ENSMUST00000067167
AA Change: E163G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000070534
Gene: ENSMUSG00000054237
AA Change: E163G

DomainStartEndE-ValueType
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 0.6713 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (59/60)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,177,426 (GRCm39) T561I probably benign Het
Akp3 T C 1: 87,054,844 (GRCm39) I393T probably damaging Het
Atxn10 A T 15: 85,277,621 (GRCm39) I363F probably benign Het
BC004004 A T 17: 29,501,709 (GRCm39) S83C probably damaging Het
Bin1 T A 18: 32,559,264 (GRCm39) probably null Het
Cacna1c A G 6: 118,674,641 (GRCm39) I541T probably damaging Het
Cand1 A G 10: 119,046,910 (GRCm39) V860A probably benign Het
Ccdc69 T C 11: 54,945,856 (GRCm39) N50S possibly damaging Het
Cd209d T A 8: 3,921,968 (GRCm39) T235S probably benign Het
Cdhr3 G T 12: 33,096,685 (GRCm39) T591K possibly damaging Het
Cherp C T 8: 73,216,957 (GRCm39) D658N probably damaging Het
Clip4 T A 17: 72,113,494 (GRCm39) probably null Het
Cryzl1 C T 16: 91,492,242 (GRCm39) V195M probably damaging Het
Cst11 A T 2: 148,612,387 (GRCm39) Y83* probably null Het
Ddb2 T C 2: 91,042,337 (GRCm39) S419G possibly damaging Het
Ddi2 A T 4: 141,412,901 (GRCm39) L4M probably damaging Het
Dip2b C A 15: 100,055,826 (GRCm39) P393T probably benign Het
Dnmt3a G A 12: 3,935,660 (GRCm39) probably null Het
Elf5 C T 2: 103,279,367 (GRCm39) S196L probably damaging Het
Eps15 C G 4: 109,220,373 (GRCm39) probably null Het
Gc T C 5: 89,589,125 (GRCm39) T213A probably damaging Het
Grpel1 A T 5: 36,622,503 (GRCm39) probably benign Het
Gsdme G A 6: 50,196,280 (GRCm39) Q377* probably null Het
Hira T C 16: 18,753,768 (GRCm39) probably benign Het
Hsd11b1 T A 1: 192,922,554 (GRCm39) I168F probably damaging Het
Htr6 G A 4: 138,789,015 (GRCm39) R347W probably damaging Het
Ipp A C 4: 116,367,967 (GRCm39) T67P probably damaging Het
Lrfn5 G A 12: 61,886,509 (GRCm39) R99Q probably benign Het
Madd T A 2: 90,998,174 (GRCm39) I649F probably damaging Het
Map2k7 T A 8: 4,295,757 (GRCm39) D368E probably benign Het
Mppe1 T G 18: 67,358,889 (GRCm39) T360P possibly damaging Het
Msi2 A G 11: 88,608,564 (GRCm39) F2L probably damaging Het
Nectin3 T C 16: 46,279,180 (GRCm39) Q266R probably damaging Het
Nfasc T C 1: 132,532,883 (GRCm39) H691R probably benign Het
Oprm1 G A 10: 6,739,026 (GRCm39) G51D probably damaging Het
Or4c117 T C 2: 88,955,793 (GRCm39) E94G probably benign Het
Or5ac15 TGAAGAAGAA TGAAGAA 16: 58,940,335 (GRCm39) probably benign Het
Papss2 G A 19: 32,638,119 (GRCm39) probably null Het
Pi4ka T C 16: 17,172,736 (GRCm39) K549E probably benign Het
Plekha6 A G 1: 133,208,116 (GRCm39) T596A probably benign Het
Polr2f A G 15: 79,035,845 (GRCm39) D117G probably damaging Het
Psd T C 19: 46,301,178 (GRCm39) E381G possibly damaging Het
Rfx6 G A 10: 51,602,976 (GRCm39) R831H probably damaging Het
Rpp25l A T 4: 41,712,649 (GRCm39) L42Q probably damaging Het
Ryr3 T C 2: 112,583,442 (GRCm39) M2810V probably benign Het
Sdk1 C A 5: 142,129,626 (GRCm39) L1616I probably benign Het
Spock2 T A 10: 59,962,029 (GRCm39) F215I probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tchh A T 3: 93,353,488 (GRCm39) E976V unknown Het
Tgfbr3 T C 5: 107,297,761 (GRCm39) E213G probably benign Het
Tmed1 T C 9: 21,420,619 (GRCm39) D71G probably benign Het
Tmtc4 T A 14: 123,170,565 (GRCm39) K527N possibly damaging Het
Zfhx2 T C 14: 55,311,822 (GRCm39) T291A probably benign Het
Other mutations in Fra10ac1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GTGCAACTCTATTGGGTTCACG -3'
(R):5'- TGTCAGGAGATATCCTTAAGTTCTG -3'

Sequencing Primer
(F):5'- AATCAAGCACTTGTTCCTTGTTAC -3'
(R):5'- GTTCTGTAAAAAGAGAAAAAGCCATC -3'
Posted On 2016-11-21