Incidental Mutation 'IGL02397:Frmd7'
ID 291714
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frmd7
Ensembl Gene ENSMUSG00000036131
Gene Name FERM domain containing 7
Synonyms LOC385354, EG665849
Accession Numbers
Essential gene? Not available question?
Stock # IGL02397
Quality Score
Status
Chromosome X
Chromosomal Location 49984057-50031587 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 49984775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 465 (T465I)
Ref Sequence ENSEMBL: ENSMUSP00000057103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033444] [ENSMUST00000060650] [ENSMUST00000114887] [ENSMUST00000164311]
AlphaFold A2AD83
Predicted Effect probably benign
Transcript: ENSMUST00000033444
SMART Domains Protein: ENSMUSP00000033444
Gene: ENSMUSG00000031112

DomainStartEndE-ValueType
S_TKc 24 274 1.07e-96 SMART
low complexity region 300 318 N/A INTRINSIC
PDB:4GEH|D 325 413 2e-54 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000060650
AA Change: T465I

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000057103
Gene: ENSMUSG00000036131
AA Change: T465I

DomainStartEndE-ValueType
B41 1 192 1.3e-53 SMART
FERM_C 196 286 2.35e-31 SMART
FA 290 336 1.46e-9 SMART
low complexity region 637 645 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114887
SMART Domains Protein: ENSMUSP00000110537
Gene: ENSMUSG00000031112

DomainStartEndE-ValueType
S_TKc 24 274 1.07e-96 SMART
low complexity region 300 318 N/A INTRINSIC
PDB:4GEH|D 325 389 1e-31 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146956
Predicted Effect probably benign
Transcript: ENSMUST00000164311
SMART Domains Protein: ENSMUSP00000126628
Gene: ENSMUSG00000036131

DomainStartEndE-ValueType
Pfam:FERM_N 6 85 8.3e-18 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,623,834 (GRCm39) N400S probably benign Het
Adam12 T A 7: 133,511,548 (GRCm39) probably benign Het
Adam5 T C 8: 25,234,149 (GRCm39) probably benign Het
Amn A T 12: 111,240,913 (GRCm39) Y139F possibly damaging Het
Ano10 C A 9: 122,090,458 (GRCm39) R285L probably damaging Het
Atad2b A G 12: 5,024,046 (GRCm39) Y57C probably damaging Het
Brd8 T C 18: 34,737,926 (GRCm39) K786R probably damaging Het
Cacna2d1 T C 5: 16,525,162 (GRCm39) probably benign Het
Card9 C T 2: 26,242,341 (GRCm39) D532N probably damaging Het
Cd22 T C 7: 30,577,050 (GRCm39) T86A probably benign Het
Cebpz A T 17: 79,230,690 (GRCm39) D842E possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 A G 1: 10,178,690 (GRCm39) N713S possibly damaging Het
Eml5 T C 12: 98,756,933 (GRCm39) T1899A probably benign Het
Fpgs T C 2: 32,575,801 (GRCm39) T381A probably damaging Het
Gm9837 A T 11: 53,360,987 (GRCm39) probably benign Het
Hectd3 C A 4: 116,860,333 (GRCm39) A816D possibly damaging Het
Itpripl2 A G 7: 118,089,519 (GRCm39) W347R probably damaging Het
Kcnc3 A G 7: 44,245,218 (GRCm39) T503A probably damaging Het
Mmadhc T C 2: 50,178,992 (GRCm39) E142G possibly damaging Het
Nabp2 T A 10: 128,244,192 (GRCm39) N138I possibly damaging Het
Obscn A G 11: 58,967,725 (GRCm39) V2902A possibly damaging Het
Rbm8a2 T C 1: 175,806,204 (GRCm39) D91G probably damaging Het
Samd3 A T 10: 26,109,474 (GRCm39) Y134F possibly damaging Het
Slc11a2 A G 15: 100,299,530 (GRCm39) F58S probably damaging Het
Slitrk4 T C X: 63,316,290 (GRCm39) T126A probably damaging Het
Sspo C A 6: 48,438,572 (GRCm39) P1547T probably benign Het
Tecta T C 9: 42,306,294 (GRCm39) S45G probably damaging Het
Tenm3 T C 8: 48,689,729 (GRCm39) T1937A possibly damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trmt1l T A 1: 151,315,282 (GRCm39) I156N probably damaging Het
Vmn1r71 C T 7: 10,482,199 (GRCm39) R163Q probably benign Het
Ythdf2 C T 4: 131,938,757 (GRCm39) G13D probably damaging Het
Zbtb7c A T 18: 76,270,047 (GRCm39) Y45F possibly damaging Het
Zfc3h1 G A 10: 115,243,890 (GRCm39) M740I probably damaging Het
Other mutations in Frmd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03123:Frmd7 APN X 49,984,835 (GRCm39) missense probably benign 0.01
Z1088:Frmd7 UTSW X 49,985,024 (GRCm39) missense possibly damaging 0.80
Posted On 2015-04-16