Incidental Mutation 'IGL01771:Frmd8'
ID153849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frmd8
Ensembl Gene ENSMUSG00000024816
Gene NameFERM domain containing 8
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL01771
Quality Score
Status
Chromosome19
Chromosomal Location5849702-5875274 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 5869575 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 148 (L148P)
Ref Sequence ENSEMBL: ENSMUSP00000116453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025728] [ENSMUST00000155227]
Predicted Effect probably damaging
Transcript: ENSMUST00000025728
AA Change: L148P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025728
Gene: ENSMUSG00000024816
AA Change: L148P

DomainStartEndE-ValueType
B41 26 273 9.58e-4 SMART
low complexity region 383 398 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145026
Predicted Effect probably damaging
Transcript: ENSMUST00000155227
AA Change: L148P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116453
Gene: ENSMUSG00000024816
AA Change: L148P

DomainStartEndE-ValueType
low complexity region 16 32 N/A INTRINSIC
Pfam:FERM_M 136 202 9.6e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn10 T A 1: 92,940,365 W185R probably damaging Het
Gk5 T C 9: 96,177,435 C447R probably damaging Het
Hip1r T A 5: 123,999,543 V704D possibly damaging Het
Kcnj10 C A 1: 172,369,583 H221Q probably benign Het
Klk1b8 A T 7: 43,954,866 I253L probably damaging Het
Olfr1090 C T 2: 86,754,282 C152Y probably benign Het
Olfr204 T C 16: 59,314,528 N293S probably damaging Het
Olfr389 A T 11: 73,776,664 I221N probably damaging Het
Olfr431-ps1 T C 1: 174,051,321 probably benign Het
Olfr51 A G 11: 51,007,766 T265A probably benign Het
Pdp2 A T 8: 104,594,122 Y201F probably benign Het
Ppfia1 A T 7: 144,482,357 I1112K probably benign Het
Ppwd1 A G 13: 104,217,116 I378T probably damaging Het
Rhbdd1 T A 1: 82,377,592 D248E probably benign Het
Sec14l5 T C 16: 5,178,630 probably null Het
Sel1l3 T G 5: 53,121,841 D960A probably damaging Het
Slc35f3 T C 8: 126,389,212 Y293H probably benign Het
Wwc1 A G 11: 35,853,358 probably null Het
Zan T C 5: 137,393,068 N4718S unknown Het
Zfyve16 T C 13: 92,522,172 I410M probably benign Het
Other mutations in Frmd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0815:Frmd8 UTSW 19 5865056 unclassified probably benign
R1704:Frmd8 UTSW 19 5869482 missense probably benign 0.38
R2570:Frmd8 UTSW 19 5874712 missense probably damaging 1.00
R5489:Frmd8 UTSW 19 5852652 missense probably damaging 1.00
R5717:Frmd8 UTSW 19 5873368 unclassified probably benign
R5771:Frmd8 UTSW 19 5869450 missense probably benign 0.05
R6819:Frmd8 UTSW 19 5865180 missense probably benign 0.01
R6994:Frmd8 UTSW 19 5873181 missense probably damaging 1.00
R7018:Frmd8 UTSW 19 5869518 missense probably damaging 1.00
R8440:Frmd8 UTSW 19 5865174 missense possibly damaging 0.85
R8549:Frmd8 UTSW 19 5869537 missense possibly damaging 0.69
R8922:Frmd8 UTSW 19 5873267 missense probably benign 0.01
Posted On2014-02-04