Incidental Mutation 'IGL03083:Fndc3b'
ID 417936
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fndc3b
Ensembl Gene ENSMUSG00000039286
Gene Name fibronectin type III domain containing 3B
Synonyms 1600019O04Rik, fad104
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03083
Quality Score
Status
Chromosome 3
Chromosomal Location 27470311-27765456 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27521576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 533 (D533G)
Ref Sequence ENSEMBL: ENSMUSP00000141620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046157] [ENSMUST00000195008]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000046157
AA Change: D533G

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: D533G

DomainStartEndE-ValueType
low complexity region 119 132 N/A INTRINSIC
low complexity region 152 163 N/A INTRINSIC
low complexity region 224 246 N/A INTRINSIC
FN3 279 368 6.29e-8 SMART
FN3 382 463 8.31e-8 SMART
FN3 478 560 3.15e-8 SMART
FN3 575 659 4.28e-10 SMART
FN3 674 755 2.14e-10 SMART
FN3 770 849 1.98e-5 SMART
FN3 872 947 1.31e-5 SMART
FN3 961 1042 2.31e-6 SMART
FN3 1057 1137 1.2e-4 SMART
low complexity region 1165 1176 N/A INTRINSIC
transmembrane domain 1182 1204 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000195008
AA Change: D533G

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: D533G

DomainStartEndE-ValueType
low complexity region 119 132 N/A INTRINSIC
low complexity region 152 163 N/A INTRINSIC
low complexity region 224 246 N/A INTRINSIC
FN3 279 368 6.29e-8 SMART
FN3 382 463 8.31e-8 SMART
FN3 478 560 3.15e-8 SMART
FN3 575 659 4.28e-10 SMART
FN3 674 755 2.14e-10 SMART
FN3 770 849 1.98e-5 SMART
FN3 872 947 1.31e-5 SMART
FN3 961 1042 2.31e-6 SMART
FN3 1057 1137 1.2e-4 SMART
low complexity region 1165 1176 N/A INTRINSIC
transmembrane domain 1182 1204 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth despite normal energy homeostasis. Mouse embryonic fibroblasts homozygous for a knock-out allele exhibit impaired adipogenesis and enhanced osteogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,932,261 (GRCm39) probably null Het
Acadsb A C 7: 131,042,922 (GRCm39) probably benign Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd24 G A 10: 81,474,483 (GRCm39) A72T probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Efhb A T 17: 53,706,087 (GRCm39) W817R probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Mios T A 6: 8,215,156 (GRCm39) N117K probably damaging Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
P2ry1 A G 3: 60,911,736 (GRCm39) T292A probably benign Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Sbno2 A T 10: 79,893,368 (GRCm39) M1311K probably damaging Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Slc9a4 A G 1: 40,668,562 (GRCm39) E735G probably benign Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Sult1e1 T A 5: 87,737,983 (GRCm39) M33L probably benign Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Top1 A G 2: 160,545,498 (GRCm39) T289A probably damaging Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Vmn1r54 T C 6: 90,246,854 (GRCm39) I256T possibly damaging Het
Wdr19 T C 5: 65,388,319 (GRCm39) I668T probably benign Het
Other mutations in Fndc3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Fndc3b APN 3 27,592,161 (GRCm39) missense probably benign 0.40
IGL00848:Fndc3b APN 3 27,505,658 (GRCm39) missense probably damaging 1.00
IGL01099:Fndc3b APN 3 27,517,966 (GRCm39) missense probably benign 0.10
IGL01459:Fndc3b APN 3 27,515,889 (GRCm39) missense probably benign 0.11
IGL01583:Fndc3b APN 3 27,483,144 (GRCm39) missense probably damaging 1.00
IGL01736:Fndc3b APN 3 27,521,552 (GRCm39) missense probably damaging 1.00
IGL02154:Fndc3b APN 3 27,592,266 (GRCm39) missense probably damaging 0.99
IGL02377:Fndc3b APN 3 27,674,801 (GRCm39) missense probably damaging 1.00
IGL02470:Fndc3b APN 3 27,515,869 (GRCm39) missense probably damaging 1.00
IGL02508:Fndc3b APN 3 27,512,900 (GRCm39) missense probably damaging 1.00
IGL02834:Fndc3b APN 3 27,562,652 (GRCm39) missense probably damaging 1.00
IGL02974:Fndc3b APN 3 27,542,425 (GRCm39) missense probably damaging 1.00
IGL02999:Fndc3b APN 3 27,592,388 (GRCm39) missense probably damaging 1.00
R0040:Fndc3b UTSW 3 27,610,266 (GRCm39) splice site probably null
R0040:Fndc3b UTSW 3 27,610,266 (GRCm39) splice site probably null
R0101:Fndc3b UTSW 3 27,512,957 (GRCm39) missense probably damaging 1.00
R0279:Fndc3b UTSW 3 27,511,155 (GRCm39) missense probably benign 0.30
R0281:Fndc3b UTSW 3 27,511,155 (GRCm39) missense probably benign 0.30
R0325:Fndc3b UTSW 3 27,521,579 (GRCm39) missense probably damaging 1.00
R0398:Fndc3b UTSW 3 27,515,928 (GRCm39) missense probably benign 0.19
R1334:Fndc3b UTSW 3 27,513,000 (GRCm39) missense probably damaging 1.00
R1464:Fndc3b UTSW 3 27,494,334 (GRCm39) splice site probably benign
R1961:Fndc3b UTSW 3 27,510,600 (GRCm39) nonsense probably null
R1993:Fndc3b UTSW 3 27,473,549 (GRCm39) missense probably benign
R2087:Fndc3b UTSW 3 27,505,703 (GRCm39) missense probably benign 0.00
R2113:Fndc3b UTSW 3 27,697,185 (GRCm39) missense probably damaging 1.00
R2258:Fndc3b UTSW 3 27,494,309 (GRCm39) missense possibly damaging 0.93
R2437:Fndc3b UTSW 3 27,505,481 (GRCm39) missense probably damaging 0.99
R2930:Fndc3b UTSW 3 27,524,435 (GRCm39) missense probably benign
R2997:Fndc3b UTSW 3 27,523,021 (GRCm39) missense probably benign 0.00
R3151:Fndc3b UTSW 3 27,473,652 (GRCm39) missense possibly damaging 0.93
R3782:Fndc3b UTSW 3 27,514,135 (GRCm39) missense possibly damaging 0.81
R4255:Fndc3b UTSW 3 27,555,556 (GRCm39) missense possibly damaging 0.77
R4628:Fndc3b UTSW 3 27,610,277 (GRCm39) missense probably benign 0.19
R4747:Fndc3b UTSW 3 27,483,114 (GRCm39) missense probably damaging 0.98
R4849:Fndc3b UTSW 3 27,514,097 (GRCm39) missense probably damaging 1.00
R5185:Fndc3b UTSW 3 27,511,219 (GRCm39) missense probably benign 0.14
R5291:Fndc3b UTSW 3 27,697,144 (GRCm39) missense probably benign 0.39
R5392:Fndc3b UTSW 3 27,519,936 (GRCm39) nonsense probably null
R5540:Fndc3b UTSW 3 27,555,651 (GRCm39) missense probably damaging 1.00
R5554:Fndc3b UTSW 3 27,697,162 (GRCm39) missense possibly damaging 0.69
R5635:Fndc3b UTSW 3 27,596,080 (GRCm39) missense probably damaging 1.00
R5639:Fndc3b UTSW 3 27,480,302 (GRCm39) missense probably damaging 0.98
R5678:Fndc3b UTSW 3 27,483,172 (GRCm39) missense probably benign
R5732:Fndc3b UTSW 3 27,515,922 (GRCm39) missense probably damaging 1.00
R5880:Fndc3b UTSW 3 27,483,052 (GRCm39) missense probably damaging 1.00
R6539:Fndc3b UTSW 3 27,592,206 (GRCm39) missense probably benign 0.22
R7038:Fndc3b UTSW 3 27,555,618 (GRCm39) missense probably benign 0.23
R7102:Fndc3b UTSW 3 27,524,383 (GRCm39) missense possibly damaging 0.73
R7203:Fndc3b UTSW 3 27,510,634 (GRCm39) missense probably benign 0.00
R7472:Fndc3b UTSW 3 27,515,893 (GRCm39) missense probably benign 0.00
R7796:Fndc3b UTSW 3 27,515,892 (GRCm39) missense probably benign 0.00
R7861:Fndc3b UTSW 3 27,523,148 (GRCm39) missense possibly damaging 0.62
R8105:Fndc3b UTSW 3 27,524,374 (GRCm39) missense probably benign 0.01
R8119:Fndc3b UTSW 3 27,505,493 (GRCm39) missense probably benign 0.01
R8348:Fndc3b UTSW 3 27,494,144 (GRCm39) missense probably benign
R8677:Fndc3b UTSW 3 27,511,176 (GRCm39) missense probably benign 0.32
R8929:Fndc3b UTSW 3 27,596,253 (GRCm39) missense probably damaging 1.00
R8943:Fndc3b UTSW 3 27,555,329 (GRCm39) intron probably benign
R9102:Fndc3b UTSW 3 27,523,014 (GRCm39) critical splice donor site probably null
R9211:Fndc3b UTSW 3 27,523,086 (GRCm39) missense probably damaging 1.00
R9224:Fndc3b UTSW 3 27,524,450 (GRCm39) missense possibly damaging 0.47
R9225:Fndc3b UTSW 3 27,510,680 (GRCm39) nonsense probably null
R9358:Fndc3b UTSW 3 27,505,556 (GRCm39) missense possibly damaging 0.79
R9600:Fndc3b UTSW 3 27,552,941 (GRCm39) missense probably damaging 1.00
X0028:Fndc3b UTSW 3 27,505,583 (GRCm39) missense possibly damaging 0.72
Z1088:Fndc3b UTSW 3 27,519,957 (GRCm39) missense possibly damaging 0.93
Posted On 2016-08-02