Incidental Mutation 'IGL00917:Frey1'
ID 26871
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frey1
Ensembl Gene ENSMUSG00000044916
Gene Name Frey regulator of sperm-oocyte fusion 1
Synonyms 1700029I15Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL00917
Quality Score
Status
Chromosome 2
Chromosomal Location 92213263-92213948 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92213563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 39 (S39T)
Ref Sequence ENSEMBL: ENSMUSP00000051464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028650] [ENSMUST00000050312] [ENSMUST00000054316] [ENSMUST00000111279] [ENSMUST00000111280] [ENSMUST00000191292]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000028650
SMART Domains Protein: ENSMUSP00000028650
Gene: ENSMUSG00000027222

DomainStartEndE-ValueType
Pfam:Pex16 9 329 1.3e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050312
SMART Domains Protein: ENSMUSP00000050773
Gene: ENSMUSG00000027223

DomainStartEndE-ValueType
low complexity region 6 24 N/A INTRINSIC
low complexity region 38 51 N/A INTRINSIC
low complexity region 71 87 N/A INTRINSIC
low complexity region 98 119 N/A INTRINSIC
low complexity region 242 254 N/A INTRINSIC
low complexity region 462 477 N/A INTRINSIC
SH3 487 544 2.62e-11 SMART
PTB 558 700 1.2e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000054316
AA Change: S39T

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000051464
Gene: ENSMUSG00000044916
AA Change: S39T

DomainStartEndE-ValueType
Pfam:DUF4733 4 97 7.7e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111279
SMART Domains Protein: ENSMUSP00000106910
Gene: ENSMUSG00000027223

DomainStartEndE-ValueType
low complexity region 29 42 N/A INTRINSIC
low complexity region 62 78 N/A INTRINSIC
low complexity region 89 110 N/A INTRINSIC
low complexity region 233 245 N/A INTRINSIC
low complexity region 453 468 N/A INTRINSIC
SH3 478 535 2.62e-11 SMART
PTB 549 691 1.2e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111280
SMART Domains Protein: ENSMUSP00000106911
Gene: ENSMUSG00000044916

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155891
Predicted Effect probably benign
Transcript: ENSMUST00000191292
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,241,107 (GRCm39) V26E probably benign Het
Adcy4 T A 14: 56,011,120 (GRCm39) probably null Het
Adgrl3 C T 5: 81,841,421 (GRCm39) T766I possibly damaging Het
Atad2b A T 12: 5,015,837 (GRCm39) probably benign Het
Atp8b4 A T 2: 126,216,453 (GRCm39) S664R probably benign Het
Cand1 A C 10: 119,046,841 (GRCm39) I883S possibly damaging Het
Cfap53 A G 18: 74,432,367 (GRCm39) D85G probably benign Het
Chd4 G A 6: 125,081,909 (GRCm39) R514Q possibly damaging Het
Cnst T C 1: 179,452,557 (GRCm39) probably benign Het
Col6a6 T C 9: 105,661,453 (GRCm39) probably benign Het
Cux2 A C 5: 122,007,168 (GRCm39) L831R probably null Het
Elf2 T A 3: 51,215,467 (GRCm39) probably benign Het
Glp1r A G 17: 31,138,443 (GRCm39) probably benign Het
Hus1b A G 13: 31,131,527 (GRCm39) M44T probably benign Het
Mbd6 A G 10: 127,119,988 (GRCm39) probably benign Het
Med31 T A 11: 72,102,905 (GRCm39) probably null Het
Mmrn1 C T 6: 60,952,894 (GRCm39) Q392* probably null Het
Mrpl3 T G 9: 104,934,240 (GRCm39) V121G probably damaging Het
Or10am5 A G 7: 6,517,577 (GRCm39) S284P probably damaging Het
Or14c46 A T 7: 85,918,649 (GRCm39) M116K probably damaging Het
Palld A G 8: 61,968,969 (GRCm39) V879A possibly damaging Het
Pkn2 G T 3: 142,559,386 (GRCm39) D46E probably damaging Het
Prkdc T A 16: 15,557,428 (GRCm39) C2244S probably damaging Het
Prss50 T A 9: 110,691,474 (GRCm39) H259Q possibly damaging Het
Rab8b C T 9: 66,761,969 (GRCm39) W102* probably null Het
Rad54l2 A T 9: 106,587,638 (GRCm39) L709Q possibly damaging Het
Rapgef1 T C 2: 29,592,535 (GRCm39) V471A probably benign Het
Rbms3 A G 9: 116,939,183 (GRCm39) S27P probably damaging Het
Rpl35a A G 16: 32,879,101 (GRCm39) K73E possibly damaging Het
Sugct A T 13: 17,032,503 (GRCm39) Y416* probably null Het
Top2b A G 14: 16,407,354 (GRCm38) I713V probably benign Het
Unc79 A T 12: 103,054,766 (GRCm39) R777S possibly damaging Het
Vps37a T A 8: 40,993,779 (GRCm39) M258K probably benign Het
Zfp944 G A 17: 22,558,765 (GRCm39) L161F probably benign Het
Other mutations in Frey1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1840:Frey1 UTSW 2 92,213,554 (GRCm39) missense probably benign
R7685:Frey1 UTSW 2 92,213,817 (GRCm39) missense probably damaging 1.00
R8000:Frey1 UTSW 2 92,215,872 (GRCm39) missense unknown
Posted On 2013-04-17