Incidental Mutation 'IGL03196:Fndc7'
ID412806
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 #IGL03196
Quality Score
Status
Chromosome3
Chromosomal Location108853678-108890008 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108883444 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 89 (Y89H)
Ref Sequence ENSEMBL: ENSMUSP00000136215 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053065] [ENSMUST00000102620] [ENSMUST00000180063]
Predicted Effect probably damaging
Transcript: ENSMUST00000053065
AA Change: Y89H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: Y89H

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 damaging
Transcript: ENSMUST00000102620
AA Change: Y89H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: Y89H

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 damaging
Transcript: ENSMUST00000180063
AA Change: Y89H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: Y89H

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,161,063 V57A probably damaging Het
2410089E03Rik A T 15: 8,201,342 K1034N probably damaging Het
Adck1 T C 12: 88,431,115 V173A probably damaging Het
Adgrv1 C A 13: 81,446,478 R4139L probably benign Het
Aqp4 T G 18: 15,393,509 D305A probably benign Het
Cadm1 T C 9: 47,799,377 S193P possibly damaging Het
Ccdc88a T C 11: 29,482,340 S377P possibly damaging Het
Clic5 C A 17: 44,242,073 H71Q possibly damaging Het
Col20a1 G A 2: 181,007,878 probably null Het
Col5a1 A G 2: 27,975,598 D759G unknown Het
Cpt1b A G 15: 89,424,395 V110A probably benign Het
Cts8 C T 13: 61,253,458 G85S probably benign Het
Cul5 T A 9: 53,625,880 M551L probably damaging Het
Eno1b T A 18: 48,047,491 D245E probably damaging Het
Fgf1 A T 18: 38,841,975 Y140* probably null Het
Flt1 A G 5: 147,615,127 probably null Het
Gm3127 A T 14: 4,172,510 M254L probably benign Het
Gm5849 T C 3: 90,777,782 E32G probably damaging Het
Gys1 T C 7: 45,454,817 probably benign Het
Hdgfl2 T C 17: 56,093,607 V125A probably benign Het
Hypm A G X: 9,847,110 Q27R possibly damaging Het
Igkv6-32 C T 6: 70,074,058 V105I probably benign Het
Lmo3 T C 6: 138,365,995 T140A probably benign Het
Marf1 A G 16: 14,140,259 V793A possibly damaging Het
Mep1b A C 18: 21,095,064 I575L probably benign Het
Mtmr4 T A 11: 87,600,783 I155N possibly damaging Het
Muc2 T C 7: 141,747,630 F361L probably damaging Het
Ncoa7 T A 10: 30,647,514 probably benign Het
Nme6 C T 9: 109,841,493 R71W probably damaging Het
Olfr1015 G A 2: 85,786,021 G170D possibly damaging Het
Olfr1158 A T 2: 87,990,482 I124F possibly damaging Het
Olfr504 T C 7: 108,564,854 S314G probably benign Het
Osbpl9 C T 4: 109,072,864 V357I probably damaging Het
Ppp4r3a A G 12: 101,049,654 probably benign Het
Rnf216 T C 5: 143,081,011 R474G probably damaging Het
Rpp25l A G 4: 41,712,541 V78A possibly damaging Het
Sh3bp2 C A 5: 34,557,343 P245Q probably damaging Het
Slc33a1 A G 3: 63,963,730 F154S possibly damaging Het
Wasf2 T A 4: 133,194,421 S284T unknown Het
Wdtc1 T C 4: 133,295,337 E566G probably damaging Het
Zcchc14 C T 8: 121,609,138 probably benign Het
Other mutations in Fndc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02077:Fndc7 APN 3 108883468 missense probably benign 0.17
IGL02823:Fndc7 APN 3 108869171 missense probably damaging 1.00
IGL02896:Fndc7 APN 3 108862931 missense probably benign 0.04
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
R8023:Fndc7 UTSW 3 108867145 missense probably damaging 1.00
Z1088:Fndc7 UTSW 3 108883500 missense probably damaging 1.00
Posted On2016-08-02