Incidental Mutation 'IGL01141:Fndc9'
ID52379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fndc9
Ensembl Gene ENSMUSG00000048721
Gene Namefibronectin type III domain containing 9
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01141
Quality Score
Status
Chromosome11
Chromosomal Location46235531-46239872 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46237699 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 15 (I15T)
Ref Sequence ENSEMBL: ENSMUSP00000060509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060185] [ENSMUST00000093165] [ENSMUST00000093166] [ENSMUST00000165599]
Predicted Effect probably benign
Transcript: ENSMUST00000060185
AA Change: I15T

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000060509
Gene: ENSMUSG00000048721
AA Change: I15T

DomainStartEndE-ValueType
Blast:FN3 1 85 5e-53 BLAST
SCOP:d1fnf_2 2 82 5e-8 SMART
transmembrane domain 116 138 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093165
SMART Domains Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:DUF1394 59 303 5.4e-12 PFAM
Pfam:FragX_IP 388 1221 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093166
SMART Domains Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 384 1223 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142017
SMART Domains Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340

DomainStartEndE-ValueType
Pfam:FragX_IP 58 230 4e-66 PFAM
Pfam:FragX_IP 246 916 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165599
SMART Domains Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340

DomainStartEndE-ValueType
low complexity region 15 27 N/A INTRINSIC
Pfam:FragX_IP 384 1223 N/A PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,937,730 D1447E probably damaging Het
Atp2a3 T C 11: 72,982,665 I788T probably damaging Het
Axin1 G A 17: 26,190,041 E672K probably damaging Het
Ccno A G 13: 112,989,027 D175G probably damaging Het
Cep83 C A 10: 94,788,757 T632K probably benign Het
Ckmt1 A T 2: 121,362,993 I345F probably benign Het
Cntnap1 G A 11: 101,178,807 probably benign Het
Edem2 A G 2: 155,709,028 Y340H probably benign Het
Erich3 A G 3: 154,714,016 K249R probably benign Het
Gm4758 A G 16: 36,308,064 E7G probably benign Het
Grip2 G T 6: 91,782,897 Q300K probably benign Het
Herc2 T C 7: 56,212,841 V4050A possibly damaging Het
Jup A T 11: 100,386,249 D44E probably benign Het
Lingo3 G T 10: 80,835,313 P261Q probably damaging Het
Lrrfip2 C T 9: 111,219,715 R311W probably damaging Het
Mansc1 C A 6: 134,621,785 L56F probably benign Het
Map1b A G 13: 99,434,761 I484T probably damaging Het
Mpeg1 T A 19: 12,462,785 F536I probably damaging Het
Mrgprb1 T G 7: 48,448,027 T46P probably benign Het
Mug1 A G 6: 121,870,499 N612S probably benign Het
Olfr477 T C 7: 107,990,551 F62S probably damaging Het
Olfr805 T A 10: 129,722,945 I200L probably benign Het
Pax8 A G 2: 24,441,150 S178P probably damaging Het
Peak1 A G 9: 56,258,527 F706L probably benign Het
Prkdc A G 16: 15,726,704 T1853A probably damaging Het
Reln A C 5: 21,969,033 F2024C probably damaging Het
Reln G T 5: 21,919,069 P2813Q probably damaging Het
Riox1 A G 12: 83,951,794 Q368R probably damaging Het
Rspry1 T C 8: 94,649,855 V335A probably benign Het
Scn3a T C 2: 65,495,113 N1020S possibly damaging Het
Scyl2 A G 10: 89,640,635 V876A probably benign Het
Sdhaf3 T A 6: 6,956,141 F39I probably damaging Het
Sfxn4 T C 19: 60,851,014 E202G possibly damaging Het
Slc1a4 A T 11: 20,308,644 probably benign Het
Sln A G 9: 53,853,500 I10V probably benign Het
Ssh2 A G 11: 77,449,726 E568G probably damaging Het
Supt7l G A 5: 31,518,435 P270S probably benign Het
Tanc2 A G 11: 105,886,474 probably benign Het
Tatdn1 A T 15: 58,909,567 probably benign Het
Tfip11 C T 5: 112,329,503 P117L possibly damaging Het
Vpreb1 T C 16: 16,869,087 M9V probably benign Het
Other mutations in Fndc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02314:Fndc9 APN 11 46238295 missense probably benign 0.00
R0565:Fndc9 UTSW 11 46238157 missense probably damaging 1.00
R1518:Fndc9 UTSW 11 46238103 missense probably benign 0.16
R1677:Fndc9 UTSW 11 46238325 missense probably benign
R2847:Fndc9 UTSW 11 46238041 missense probably damaging 1.00
R4631:Fndc9 UTSW 11 46237848 missense possibly damaging 0.91
R5403:Fndc9 UTSW 11 46237714 missense probably benign 0.00
R6572:Fndc9 UTSW 11 46237881 missense probably damaging 0.99
R7805:Fndc9 UTSW 11 46238311 missense probably damaging 0.99
R7901:Fndc9 UTSW 11 46237749 missense probably damaging 1.00
Posted On2013-06-21