Incidental Mutation 'IGL02974:Fndc3b'
ID 406271
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 # IGL02974
Quality Score
Status
Chromosome 3
Chromosomal Location 27470311-27765456 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27542425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 408 (N408K)
Ref Sequence ENSEMBL: ENSMUSP00000141620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046157] [ENSMUST00000195008]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000046157
AA Change: N408K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: N408K

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 damaging
Transcript: ENSMUST00000195008
AA Change: N408K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: N408K

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik C T 5: 48,545,479 (GRCm39) T242M probably damaging Het
Abcg3 A T 5: 105,116,129 (GRCm39) I235N probably damaging Het
Agbl3 T C 6: 34,776,757 (GRCm39) L416S probably damaging Het
Alcam T C 16: 52,116,079 (GRCm39) D165G probably benign Het
Aldh18a1 T A 19: 40,557,528 (GRCm39) I341F probably damaging Het
Amn T C 12: 111,237,575 (GRCm39) V7A probably benign Het
Apc C T 18: 34,401,436 (GRCm39) probably benign Het
Arg2 T C 12: 79,197,566 (GRCm39) Y195H probably damaging Het
Bdp1 A T 13: 100,191,800 (GRCm39) M22K probably benign Het
Cacna1s T G 1: 136,020,355 (GRCm39) N797K possibly damaging Het
Chd8 T A 14: 52,439,158 (GRCm39) probably null Het
Clstn2 G A 9: 97,414,760 (GRCm39) T378M probably damaging Het
Elf2 A G 3: 51,165,110 (GRCm39) V298A probably damaging Het
Fbn1 C T 2: 125,188,250 (GRCm39) D1530N probably null Het
Fcrl2 A T 3: 87,164,704 (GRCm39) I274N possibly damaging Het
Fmo3 C T 1: 162,810,619 (GRCm39) E24K probably damaging Het
Foxn2 A T 17: 88,770,543 (GRCm39) N130I probably damaging Het
Fscb T A 12: 64,518,299 (GRCm39) I1056F unknown Het
Gimap5 A C 6: 48,730,311 (GRCm39) T294P possibly damaging Het
Gm20489 T C X: 100,307,320 (GRCm39) Q11R probably damaging Het
Gpr3 T C 4: 132,938,220 (GRCm39) T151A possibly damaging Het
Gzmc T A 14: 56,471,451 (GRCm39) H30L probably damaging Het
Ints6l C A X: 55,552,296 (GRCm39) S845Y probably benign Het
Iqcf3 A T 9: 106,430,844 (GRCm39) C101* probably null Het
Krt82 G A 15: 101,459,020 (GRCm39) Q7* probably null Het
L3mbtl1 A T 2: 162,812,103 (GRCm39) H716L possibly damaging Het
Lefty1 C A 1: 180,762,842 (GRCm39) H56Q probably benign Het
Lrp1 T C 10: 127,390,885 (GRCm39) Y3004C probably damaging Het
Lrp10 C A 14: 54,705,341 (GRCm39) S177* probably null Het
Naa15 A G 3: 51,368,628 (GRCm39) K576R possibly damaging Het
Naip2 A G 13: 100,298,186 (GRCm39) S617P probably damaging Het
Olfm1 T G 2: 28,119,701 (GRCm39) N445K probably damaging Het
Or4ac1-ps1 C T 2: 88,370,579 (GRCm39) silent Het
Or5b24 T G 19: 12,912,399 (GRCm39) V99G probably benign Het
Ostm1 T A 10: 42,559,158 (GRCm39) N139K probably damaging Het
Ovol1 A G 19: 5,601,177 (GRCm39) Y205H probably damaging Het
Pappa C T 4: 65,123,172 (GRCm39) L836F probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Ppfia2 A G 10: 106,636,637 (GRCm39) K229E probably benign Het
Ppm1b T A 17: 85,301,252 (GRCm39) V44E possibly damaging Het
Rapgef1 T C 2: 29,600,228 (GRCm39) F611L possibly damaging Het
Rev3l T A 10: 39,738,743 (GRCm39) Y2832* probably null Het
Robo1 T A 16: 72,803,750 (GRCm39) Y1099N probably benign Het
Sf3b1 T C 1: 55,046,866 (GRCm39) H226R probably benign Het
Slc26a4 C T 12: 31,579,553 (GRCm39) V570I probably damaging Het
Slc27a1 C A 8: 72,036,847 (GRCm39) A361D probably damaging Het
Srp68 T C 11: 116,137,051 (GRCm39) N549D probably benign Het
Terb1 G T 8: 105,221,600 (GRCm39) S202* probably null Het
Tmc1 T A 19: 20,878,208 (GRCm39) M96L probably benign Het
Tmprss11d A G 5: 86,454,235 (GRCm39) V190A probably damaging Het
Ttll6 G A 11: 96,047,528 (GRCm39) C709Y probably benign Het
Uba1 A G X: 20,544,959 (GRCm39) H712R probably benign Het
Unc80 A C 1: 66,564,817 (GRCm39) T835P possibly damaging Het
Vmn2r14 G A 5: 109,369,292 (GRCm39) P94S possibly damaging Het
Yes1 C T 5: 32,818,112 (GRCm39) A383V probably damaging 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
IGL02999:Fndc3b APN 3 27,592,388 (GRCm39) missense probably damaging 1.00
IGL03083:Fndc3b APN 3 27,521,576 (GRCm39) missense probably benign 0.10
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