Incidental Mutation 'R8119:Fndc3b'
ID 631382
Institutional Source Beutler Lab
Gene Symbol Fndc3b
Ensembl Gene ENSMUSG00000039286
Gene Name fibronectin type III domain containing 3B
Synonyms 1600019O04Rik, fad104
MMRRC Submission 067548-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8119 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 27470311-27765456 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27505493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 925 (M925K)
Ref Sequence ENSEMBL: ENSMUSP00000041495 (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: M925K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: M925K

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: M925K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: M925K

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
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.7%
  • 20x: 95.2%
Validation Efficiency 100% (52/52)
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
Abca6 T C 11: 110,087,930 (GRCm39) I1066V probably benign Het
Abcd2 T C 15: 91,033,197 (GRCm39) T740A probably benign Het
Amigo1 T C 3: 108,094,852 (GRCm39) L117P probably damaging Het
Ankar A T 1: 72,686,160 (GRCm39) S1347T probably damaging Het
Apol7e T C 15: 77,601,956 (GRCm39) S185P probably damaging Het
Ash1l G A 3: 88,942,734 (GRCm39) C2088Y probably damaging Het
Atrnl1 A G 19: 57,630,895 (GRCm39) T221A probably benign Het
Caln1 A G 5: 130,851,825 (GRCm39) S205G probably damaging Het
Cfap54 T C 10: 92,704,672 (GRCm39) I2803V unknown Het
Cfh A C 1: 140,047,753 (GRCm39) F477V possibly damaging Het
Cldn23 A G 8: 36,293,056 (GRCm39) V144A probably damaging Het
Csmd1 A G 8: 17,077,310 (GRCm39) S116P probably damaging Het
Dgkd A T 1: 87,845,689 (GRCm39) T299S possibly damaging Het
Fam20b T G 1: 156,518,072 (GRCm39) T241P probably damaging Het
Ftdc1 C A 16: 58,437,211 (GRCm39) M32I probably benign Het
Ints3 C T 3: 90,299,607 (GRCm39) R987Q probably damaging Het
Kctd10 A G 5: 114,505,316 (GRCm39) V226A probably damaging Het
Lypd2 A G 15: 74,604,881 (GRCm39) V38A probably benign Het
Map3k1 T C 13: 111,909,156 (GRCm39) R265G possibly damaging Het
Mcc C T 18: 44,601,500 (GRCm39) V610M possibly damaging Het
Mocs1 C T 17: 49,756,547 (GRCm39) R244C probably damaging Het
Nav2 A G 7: 49,103,232 (GRCm39) T677A probably damaging Het
Ngp A G 9: 110,251,421 (GRCm39) N150D probably benign Het
Nipbl C T 15: 8,388,696 (GRCm39) R308Q probably benign Het
Nsrp1 A G 11: 76,939,177 (GRCm39) probably null Het
Or2y16 A T 11: 49,334,953 (GRCm39) I92F probably damaging Het
Or4f47 T A 2: 111,972,908 (GRCm39) I206N probably damaging Het
Or52n20 A T 7: 104,320,061 (GRCm39) I51F probably damaging Het
Pbld2 A T 10: 62,889,656 (GRCm39) D146V probably benign Het
Prss22 T A 17: 24,213,701 (GRCm39) K197* probably null Het
Ptprd G T 4: 76,047,263 (GRCm39) S87R probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Slc25a35 T C 11: 68,862,798 (GRCm39) L251S probably benign Het
Slx4 A T 16: 3,803,136 (GRCm39) L1226* probably null Het
Smarca4 T C 9: 21,558,922 (GRCm39) V651A possibly damaging Het
Smarcad1 T C 6: 65,071,303 (GRCm39) F583L probably benign Het
Taf2 T C 15: 54,894,526 (GRCm39) K932E probably benign Het
Trav8d-1 A T 14: 53,016,425 (GRCm39) T104S probably benign Het
Trmt9b G A 8: 36,965,576 (GRCm39) W32* probably null Het
Trpm4 A T 7: 44,976,552 (GRCm39) V155D probably damaging Het
Ttc6 A T 12: 57,752,429 (GRCm39) Y1445F possibly damaging Het
Ttll5 C A 12: 86,067,322 (GRCm39) N1270K probably damaging Het
Usp40 G T 1: 87,895,400 (GRCm39) probably null Het
Vmn2r74 T C 7: 85,610,690 (GRCm39) M1V probably null Het
Wwox T C 8: 115,433,108 (GRCm39) V258A probably damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp770 G A 2: 114,027,508 (GRCm39) T187I probably damaging Het
Zranb2 A G 3: 157,241,969 (GRCm39) probably null Het
Zscan4-ps3 A G 7: 11,344,267 (GRCm39) Q75R 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
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
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
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
Predicted Primers PCR Primer
(F):5'- TGGGCAGTATTTCACTTGGTCC -3'
(R):5'- GGCCATATAGTGAGCTTGTCC -3'

Sequencing Primer
(F):5'- GGTCCTTTTCCACACGTTAAGAAGG -3'
(R):5'- ATATAGTGAGCTTGTCCACTGCCAG -3'
Posted On 2020-06-30