Incidental Mutation 'R5234:Fra10ac1'
ID 398257
Institutional Source Beutler Lab
Gene Symbol Fra10ac1
Ensembl Gene ENSMUSG00000054237
Gene Name FRA10A associated CGG repeat 1
Synonyms 5730455O13Rik
MMRRC Submission 042806-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # R5234 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 38176929-38212604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38204294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 94 (D94G)
Ref Sequence ENSEMBL: ENSMUSP00000070534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067167]
AlphaFold Q8BP78
Predicted Effect probably damaging
Transcript: ENSMUST00000067167
AA Change: D94G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070534
Gene: ENSMUSG00000054237
AA Change: D94G

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,302,823 (GRCm39) T2132M probably damaging Het
Abca8b A T 11: 109,867,420 (GRCm39) F213I possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Adamts6 A G 13: 104,630,130 (GRCm39) Y1091C probably damaging Het
Adamtsl4 T C 3: 95,588,230 (GRCm39) M586V probably benign Het
Anapc4 T C 5: 53,006,118 (GRCm39) S336P probably damaging Het
Atp1a4 A T 1: 172,054,737 (GRCm39) I964K possibly damaging Het
Bcan A T 3: 87,903,453 (GRCm39) D246E probably damaging Het
Ccnf G A 17: 24,453,411 (GRCm39) R343* probably null Het
Col6a5 T C 9: 105,741,404 (GRCm39) H2505R probably damaging Het
Dlg5 T A 14: 24,242,930 (GRCm39) M72L probably damaging Het
Dnajc18 T C 18: 35,816,351 (GRCm39) T196A probably benign Het
Dnajc19 T A 3: 34,112,108 (GRCm39) I146F probably benign Het
Espnl A G 1: 91,272,515 (GRCm39) D581G probably benign Het
Fam167a T C 14: 63,689,787 (GRCm39) L28P probably damaging Het
Fut8 A G 12: 77,379,004 (GRCm39) H35R probably benign Het
Gad1-ps T A 10: 99,281,188 (GRCm39) noncoding transcript Het
Garin2 T A 12: 78,762,045 (GRCm39) Y236* probably null Het
Idh2 A T 7: 79,745,853 (GRCm39) V333E probably damaging Het
Inpp5f A G 7: 128,265,407 (GRCm39) I121V probably benign Het
Itga1 A T 13: 115,185,839 (GRCm39) Y54* probably null Het
Lax1 A G 1: 133,608,321 (GRCm39) V140A probably benign Het
Ncoa6 A G 2: 155,279,933 (GRCm39) F28L probably benign Het
Or12e10 T C 2: 87,641,112 (GRCm39) V316A probably benign Het
Or1q1 T C 2: 36,887,107 (GRCm39) V95A probably benign Het
Polr2a T C 11: 69,627,666 (GRCm39) I1414V probably benign Het
Ppp1r14b A G 19: 6,954,227 (GRCm39) E115G possibly damaging Het
Prune2 A G 19: 17,096,032 (GRCm39) D512G probably damaging Het
Psmd11 A G 11: 80,319,566 (GRCm39) I19V probably benign Het
Pthlh C A 6: 147,158,592 (GRCm39) G123W probably damaging Het
Qars1 T A 9: 108,391,364 (GRCm39) L572Q probably damaging Het
Rubcn T C 16: 32,656,828 (GRCm39) I516V probably damaging Het
Sgsm3 A T 15: 80,892,145 (GRCm39) S238C probably damaging Het
Slc25a22 C A 7: 141,014,116 (GRCm39) probably benign Het
Slc4a1 G A 11: 102,252,209 (GRCm39) R5W probably benign Het
Tie1 G A 4: 118,339,959 (GRCm39) T356I probably benign Het
Tnn A T 1: 159,972,569 (GRCm39) H344Q possibly damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Topaz1 C T 9: 122,619,258 (GRCm39) T1285M possibly damaging Het
Trank1 A T 9: 111,215,535 (GRCm39) S1822C probably damaging Het
Ttll11 A C 2: 35,830,745 (GRCm39) Y209D probably damaging Het
Unc45a C G 7: 79,978,547 (GRCm39) A634P probably benign Het
Vmn2r4 C T 3: 64,305,878 (GRCm39) V515I possibly damaging 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
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 PCR Primer
(F):5'- TTGCAAAAGCAATCCTGGAC -3'
(R):5'- CAGAAAGTGAAAGTCTGCTGTG -3'

Sequencing Primer
(F):5'- CCTGGACACTATAGTCTAAGTGTGTC -3'
(R):5'- GTGTAGTTGTCGTACATGATTTACAC -3'
Posted On 2016-07-06