Incidental Mutation 'IGL01784:Fra10ac1'
ID 154233
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fra10ac1
Ensembl Gene ENSMUSG00000054237
Gene Name FRA10A associated CGG repeat 1
Synonyms 5730455O13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.892) question?
Stock # IGL01784
Quality Score
Status
Chromosome 19
Chromosomal Location 38176929-38212604 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38208125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 43 (H43L)
Ref Sequence ENSEMBL: ENSMUSP00000070534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067167]
AlphaFold Q8BP78
Predicted Effect probably benign
Transcript: ENSMUST00000067167
AA Change: H43L

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000070534
Gene: ENSMUSG00000054237
AA Change: H43L

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,771,445 (GRCm39) P309L possibly damaging Het
Abca4 A T 3: 121,932,154 (GRCm39) K269N probably benign Het
Abcb5 T C 12: 118,854,399 (GRCm39) T839A probably benign Het
Adcy7 A G 8: 89,040,751 (GRCm39) D30G probably damaging Het
Aldh3b1 A G 19: 3,971,217 (GRCm39) I149T probably benign Het
Ap3b1 A G 13: 94,630,247 (GRCm39) D199G probably damaging Het
Cplx3 T C 9: 57,527,847 (GRCm39) Y36C probably damaging Het
Ddo A G 10: 40,507,784 (GRCm39) probably benign Het
Ensa T A 3: 95,535,844 (GRCm39) probably benign Het
Etnppl A G 3: 130,425,427 (GRCm39) I405V possibly damaging Het
Fam171b T A 2: 83,710,031 (GRCm39) L568M possibly damaging Het
Fmn2 A G 1: 174,329,994 (GRCm39) D128G unknown Het
Gm7589 T C 9: 59,053,310 (GRCm39) noncoding transcript Het
Gsx1 A G 5: 147,126,939 (GRCm39) D254G probably benign Het
Hoxb6 A G 11: 96,191,639 (GRCm39) E187G probably damaging Het
Kmt2c A T 5: 25,518,524 (GRCm39) I2385N probably damaging Het
Mc3r T A 2: 172,091,290 (GRCm39) C171S probably benign Het
Mccc1 T G 3: 36,030,897 (GRCm39) N390H probably damaging Het
Mphosph9 T C 5: 124,403,373 (GRCm39) probably benign Het
Nfic T C 10: 81,241,982 (GRCm39) D364G possibly damaging Het
Niban1 T A 1: 151,525,116 (GRCm39) Y174N probably damaging Het
Npy A G 6: 49,806,314 (GRCm39) probably benign Het
Or6c8 C T 10: 128,915,224 (GRCm39) V203M probably benign Het
Osbpl3 A G 6: 50,321,902 (GRCm39) S75P probably damaging Het
Plekhg4 G T 8: 106,105,589 (GRCm39) A685S probably damaging Het
Pramel51 A G 12: 88,143,085 (GRCm39) Y178H probably benign Het
Prss53 T C 7: 127,485,724 (GRCm39) T539A probably benign Het
Rnf43 T A 11: 87,622,632 (GRCm39) S537T possibly damaging Het
Rpgrip1l G A 8: 91,997,089 (GRCm39) T597I possibly damaging Het
Rtn4 C A 11: 29,657,291 (GRCm39) Q482K probably damaging Het
Sema3g T C 14: 30,944,924 (GRCm39) I349T probably damaging Het
Sh3gl1 A C 17: 56,326,325 (GRCm39) S108A possibly damaging Het
Tmc7 A T 7: 118,146,538 (GRCm39) probably null Het
Tmem131 G A 1: 36,854,564 (GRCm39) T131I probably damaging Het
Vac14 T C 8: 111,397,800 (GRCm39) L505P probably benign Het
Wasf2 A G 4: 132,919,439 (GRCm39) Q231R unknown Het
Wnt7a A G 6: 91,342,839 (GRCm39) C348R probably damaging Het
Zkscan6 T A 11: 65,705,547 (GRCm39) L86Q probably damaging Het
Other mutations in Fra10ac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00685:Fra10ac1 APN 19 38,190,012 (GRCm39) missense probably damaging 0.99
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
R9108:Fra10ac1 UTSW 19 38,202,779 (GRCm39) intron probably benign
Posted On 2014-02-04