Incidental Mutation 'IGL02077:Fndc7'
ID186012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fndc7
Ensembl Gene ENSMUSG00000045326
Gene Namefibronectin type III domain containing 7
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02077
Quality Score
Status
Chromosome3
Chromosomal Location108853678-108890008 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 108883468 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 81 (T81S)
Ref Sequence ENSEMBL: ENSMUSP00000136215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053065] [ENSMUST00000102620] [ENSMUST00000180063]
Predicted Effect probably benign
Transcript: ENSMUST00000053065
AA Change: T81S

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: T81S

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
FN3 29 102 2.62e-5 SMART
FN3 113 189 1.31e-5 SMART
Blast:FN3 201 274 9e-44 BLAST
FN3 283 360 1.07e-1 SMART
FN3 457 530 5.1e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102620
AA Change: T81S

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: T81S

DomainStartEndE-ValueType
FN3 29 102 2.62e-5 SMART
FN3 113 189 1.31e-5 SMART
FN3 201 275 2.44e-5 SMART
Blast:FN3 287 360 1e-43 BLAST
FN3 369 446 1.07e-1 SMART
FN3 543 616 5.1e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139137
SMART Domains Protein: ENSMUSP00000117562
Gene: ENSMUSG00000045326

DomainStartEndE-ValueType
Blast:FN3 1 123 3e-27 BLAST
SCOP:d1f6fb2 3 64 3e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180063
AA Change: T81S

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: T81S

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
FN3 29 102 2.62e-5 SMART
FN3 113 189 1.31e-5 SMART
FN3 201 275 2.44e-5 SMART
Blast:FN3 287 360 2e-43 BLAST
FN3 369 446 1.07e-1 SMART
FN3 543 616 5.1e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196867
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap11a G T 2: 113,837,471 T395K possibly damaging Het
Dopey2 T C 16: 93,780,760 S58P probably damaging Het
F5 T A 1: 164,198,866 V1669E probably damaging Het
Hnf4a G T 2: 163,562,607 probably null Het
Il27 C T 7: 126,594,879 probably null Het
Lhcgr G A 17: 88,750,130 T311I probably benign Het
Mafb A G 2: 160,365,767 S304P probably benign Het
Mfrp C T 9: 44,105,220 T404M probably damaging Het
Ntpcr T A 8: 125,737,368 Y77* probably null Het
Otof A G 5: 30,399,235 S301P probably damaging Het
Prpf6 G A 2: 181,640,664 G533R probably damaging Het
Prpf8 T A 11: 75,495,809 H1041Q probably damaging Het
Pyurf T C 6: 57,689,835 I81V probably benign Het
Rsl1d1 A G 16: 11,194,456 probably benign Het
Sema6a A T 18: 47,283,398 D387E possibly damaging Het
Serpinb3a T G 1: 107,046,381 T267P probably damaging Het
Tgm7 A T 2: 121,103,835 M192K probably damaging Het
Thbs1 G T 2: 118,113,110 V70L probably benign Het
Thsd7b T A 1: 129,816,682 I769N probably damaging Het
Tlr9 A G 9: 106,225,505 Y665C possibly damaging Het
Ttn T C 2: 76,770,162 D18928G probably damaging Het
Uggt1 A G 1: 36,176,794 S131P probably damaging Het
Unc80 A G 1: 66,525,716 N854S possibly damaging Het
Vps13b A G 15: 35,910,613 T3508A possibly damaging Het
Wdr43 G A 17: 71,640,291 A381T probably benign Het
Zfyve26 A T 12: 79,276,395 M859K possibly damaging Het
Other mutations in Fndc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02823:Fndc7 APN 3 108869171 missense probably damaging 1.00
IGL02896:Fndc7 APN 3 108862931 missense probably benign 0.04
IGL03196:Fndc7 APN 3 108883444 missense probably damaging 1.00
IGL03343:Fndc7 APN 3 108867308 missense probably damaging 1.00
IGL03377:Fndc7 APN 3 108876532 missense probably benign 0.12
R0240:Fndc7 UTSW 3 108858919 splice site probably benign
R0324:Fndc7 UTSW 3 108876699 splice site probably null
R0457:Fndc7 UTSW 3 108876545 missense probably benign 0.02
R0630:Fndc7 UTSW 3 108876615 missense probably damaging 1.00
R0891:Fndc7 UTSW 3 108870588 missense possibly damaging 0.54
R1752:Fndc7 UTSW 3 108869330 missense probably benign 0.14
R1772:Fndc7 UTSW 3 108870534 missense probably damaging 1.00
R1923:Fndc7 UTSW 3 108876687 missense probably benign 0.00
R1957:Fndc7 UTSW 3 108883509 missense probably damaging 0.98
R3801:Fndc7 UTSW 3 108869148 missense possibly damaging 0.95
R4592:Fndc7 UTSW 3 108858902 missense probably damaging 1.00
R4650:Fndc7 UTSW 3 108862819 missense probably benign 0.15
R4652:Fndc7 UTSW 3 108862819 missense probably benign 0.15
R4791:Fndc7 UTSW 3 108876659 missense probably benign 0.00
R4933:Fndc7 UTSW 3 108876670 missense probably benign 0.01
R5004:Fndc7 UTSW 3 108883473 missense probably damaging 1.00
R5042:Fndc7 UTSW 3 108862786 missense probably damaging 1.00
R5054:Fndc7 UTSW 3 108881347 missense probably damaging 0.97
R5175:Fndc7 UTSW 3 108869166 missense probably benign 0.04
R5325:Fndc7 UTSW 3 108883449 missense probably damaging 1.00
R5571:Fndc7 UTSW 3 108856408 missense possibly damaging 0.68
R5638:Fndc7 UTSW 3 108862892 missense possibly damaging 0.69
R5846:Fndc7 UTSW 3 108881391 missense probably damaging 1.00
R6488:Fndc7 UTSW 3 108870575 missense probably damaging 0.99
R6737:Fndc7 UTSW 3 108872278 missense probably damaging 1.00
R6993:Fndc7 UTSW 3 108876591 missense probably benign 0.00
R6998:Fndc7 UTSW 3 108876648 missense probably benign 0.02
R6999:Fndc7 UTSW 3 108876648 missense probably benign 0.02
R7000:Fndc7 UTSW 3 108876648 missense probably benign 0.02
R7001:Fndc7 UTSW 3 108876648 missense probably benign 0.02
R7181:Fndc7 UTSW 3 108881324 critical splice donor site probably null
R7324:Fndc7 UTSW 3 108872221 missense probably benign 0.06
R7425:Fndc7 UTSW 3 108876659 missense probably benign 0.00
R7631:Fndc7 UTSW 3 108869252 missense probably damaging 1.00
R7702:Fndc7 UTSW 3 108862813 missense probably damaging 0.98
R7713:Fndc7 UTSW 3 108870663 missense possibly damaging 0.90
R7909:Fndc7 UTSW 3 108862916 missense probably benign 0.04
R7946:Fndc7 UTSW 3 108872136 missense possibly damaging 0.78
R8023:Fndc7 UTSW 3 108867145 missense probably damaging 1.00
R8694:Fndc7 UTSW 3 108872306 nonsense probably null
R8708:Fndc7 UTSW 3 108867212 missense probably benign 0.00
Z1088:Fndc7 UTSW 3 108883500 missense probably damaging 1.00
Posted On2014-05-07