Incidental Mutation 'IGL01515:Fnd3c2'
ID89343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fnd3c2
Ensembl Gene ENSMUSG00000073012
Gene Namefibronectin type III domain containing 3C2
Synonyms5031408O05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.034) question?
Stock #IGL01515
Quality Score
Status
ChromosomeX
Chromosomal Location106235246-106255376 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106238487 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 721 (K721E)
Ref Sequence ENSEMBL: ENSMUSP00000088827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091282]
Predicted Effect probably damaging
Transcript: ENSMUST00000091282
AA Change: K721E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088827
Gene: ENSMUSG00000073012
AA Change: K721E

DomainStartEndE-ValueType
low complexity region 14 29 N/A INTRINSIC
FN3 139 223 5.07e0 SMART
FN3 237 317 3.93e-9 SMART
FN3 332 414 5.11e-8 SMART
FN3 429 513 2.21e-3 SMART
FN3 613 688 3.93e-9 SMART
FN3 702 783 2.31e-6 SMART
FN3 798 876 2.14e-1 SMART
low complexity region 896 916 N/A INTRINSIC
transmembrane domain 922 940 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,163,086 V588E probably damaging Het
Ar C T X: 98,251,847 probably benign Het
B4galt7 C A 13: 55,609,222 Q243K probably damaging Het
Cdhr2 A T 13: 54,718,238 T284S probably benign Het
Chdh G A 14: 30,036,886 R596H probably damaging Het
Cyp2r1 T C 7: 114,552,712 probably benign Het
Cyp3a44 A T 5: 145,799,418 L74* probably null Het
Dnah8 A T 17: 30,648,485 I304L probably benign Het
Fam171b G A 2: 83,880,233 E750K probably damaging Het
Fbxo38 T A 18: 62,518,571 E554D probably benign Het
Gpam A G 19: 55,087,451 L243P probably damaging Het
Heph A G X: 96,558,100 E1032G probably damaging Het
Igf1r T A 7: 68,207,452 V1054E probably damaging Het
Inpp4b A G 8: 81,952,711 S331G possibly damaging Het
Ints11 A T 4: 155,875,232 I99F probably damaging Het
Jak3 G A 8: 71,680,562 probably null Het
Ky A G 9: 102,542,105 Y437C probably benign Het
Lin28a A G 4: 134,018,709 probably null Het
Macc1 A C 12: 119,450,371 K761Q probably damaging Het
Myom2 A G 8: 15,122,655 D1194G probably benign Het
Naga C A 15: 82,330,159 V384F probably benign Het
Necab3 A T 2: 154,554,691 S72T probably damaging Het
Olfr1197 G A 2: 88,729,008 T197I probably benign Het
Olfr641 A G 7: 104,039,976 Y60C probably benign Het
Ptpn13 C T 5: 103,556,113 S1337L probably benign Het
Slitrk2 C T X: 66,655,642 P580S probably damaging Het
Tpsg1 A G 17: 25,373,962 D67G probably damaging Het
Tsc22d1 T C 14: 76,505,299 probably null Het
Other mutations in Fnd3c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Fnd3c2 APN X 106235991 missense probably damaging 1.00
IGL02484:Fnd3c2 APN X 106245486 missense probably damaging 0.99
IGL03301:Fnd3c2 APN X 106252263 missense probably benign 0.00
R0630:Fnd3c2 UTSW X 106239157 missense probably benign 0.37
R0654:Fnd3c2 UTSW X 106247154 missense possibly damaging 0.83
R1678:Fnd3c2 UTSW X 106237699 missense probably benign 0.00
Posted On2013-12-03