Incidental Mutation 'R0281:Fndc3b'
ID 37502
Institutional Source Beutler Lab
Gene Symbol Fndc3b
Ensembl Gene ENSMUSG00000039286
Gene Name fibronectin type III domain containing 3B
Synonyms 1600019O04Rik, fad104
MMRRC Submission 038503-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0281 (G1)
Quality Score 163
Status Validated
Chromosome 3
Chromosomal Location 27470311-27765456 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 27511155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 785 (C785F)
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: C785F

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: C785F

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: C785F

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: C785F

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
Meta Mutation Damage Score 0.4528 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (104/106)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,464,304 (GRCm39) R374* probably null Het
5930422O12Rik A T 8: 33,919,407 (GRCm39) R76* probably null Het
A1cf G A 19: 31,923,214 (GRCm39) A505T probably benign Het
Abcc5 T A 16: 20,241,150 (GRCm39) I12F probably damaging Het
Abcf2 T C 5: 24,771,562 (GRCm39) E555G probably damaging Het
Acan A T 7: 78,750,033 (GRCm39) E1601D probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam2 T A 14: 66,275,055 (GRCm39) K559N probably benign Het
Akap11 A C 14: 78,747,529 (GRCm39) D1619E possibly damaging Het
Ankrd11 T C 8: 123,622,307 (GRCm39) D515G probably benign Het
Ankrd27 T A 7: 35,318,796 (GRCm39) N562K probably damaging Het
Atp10b T C 11: 43,044,131 (GRCm39) I119T probably benign Het
Atr T C 9: 95,819,619 (GRCm39) I2202T probably benign Het
Bltp2 C T 11: 78,162,750 (GRCm39) L871F possibly damaging Het
Brd4 T A 17: 32,432,514 (GRCm39) probably benign Het
Catsperg2 C T 7: 29,405,996 (GRCm39) C634Y possibly damaging Het
Cep192 A G 18: 67,961,553 (GRCm39) probably benign Het
Cfap65 T A 1: 74,966,230 (GRCm39) I366F probably damaging Het
Cnga4 G T 7: 105,056,875 (GRCm39) R326L probably damaging Het
Cntnap5b T A 1: 99,999,878 (GRCm39) M212K probably benign Het
Col6a6 T A 9: 105,661,315 (GRCm39) M265L probably benign Het
Cspg4b A T 13: 113,505,677 (GRCm39) I727F probably damaging Het
Cyp26b1 A T 6: 84,551,538 (GRCm39) F417Y probably damaging Het
Dhx15 A T 5: 52,308,088 (GRCm39) M768K probably benign Het
Drc7 G A 8: 95,797,881 (GRCm39) R433H possibly damaging Het
Duox2 C T 2: 122,122,785 (GRCm39) V550M probably benign Het
Elmo2 A G 2: 165,138,810 (GRCm39) L456P probably damaging Het
Fbxo39 T C 11: 72,208,356 (GRCm39) I236T probably benign Het
Fezf2 A G 14: 12,343,977 (GRCm38) C305R probably damaging Het
Gm12253 T C 11: 58,330,838 (GRCm39) probably benign Het
Gnat2 T A 3: 108,002,878 (GRCm39) Y95* probably null Het
Gopc T C 10: 52,226,774 (GRCm39) K220E probably damaging Het
Hectd4 G A 5: 121,392,314 (GRCm39) D193N possibly damaging Het
Hexa G A 9: 59,461,509 (GRCm39) probably null Het
Hspa4l T C 3: 40,739,840 (GRCm39) probably benign Het
Hspa5 T C 2: 34,664,332 (GRCm39) S301P probably damaging Het
Ice1 A T 13: 70,752,166 (GRCm39) S1307T possibly damaging Het
Igtp T C 11: 58,096,880 (GRCm39) L17P probably damaging Het
Itk T C 11: 46,244,743 (GRCm39) Y225C probably damaging Het
Kifc3 A G 8: 95,830,088 (GRCm39) V560A probably damaging Het
Lama1 A G 17: 68,124,564 (GRCm39) N2875D probably damaging Het
Lasp1 C A 11: 97,697,677 (GRCm39) C32* probably null Het
Lcp2 T A 11: 34,019,854 (GRCm39) probably benign Het
Lhx9 C T 1: 138,760,642 (GRCm39) G236D probably benign Het
Lrrc38 A T 4: 143,076,979 (GRCm39) I81F probably damaging Het
Ly6a C T 15: 74,867,236 (GRCm39) V94M probably benign Het
Map3k13 A G 16: 21,732,907 (GRCm39) E503G probably damaging Het
Mertk T C 2: 128,624,541 (GRCm39) probably benign Het
Mrtfb T A 16: 13,230,027 (GRCm39) I915N probably damaging Het
Msantd2 G A 9: 37,434,515 (GRCm39) D252N possibly damaging Het
Mtmr12 T A 15: 12,257,792 (GRCm39) L290* probably null Het
Myo3a T C 2: 22,250,409 (GRCm39) I92T probably benign Het
Naglu T A 11: 100,964,853 (GRCm39) N313K probably damaging Het
Nceh1 T C 3: 27,276,953 (GRCm39) V92A possibly damaging Het
Ncf4 A G 15: 78,135,083 (GRCm39) T47A probably damaging Het
Nrp1 T A 8: 129,187,164 (GRCm39) F403L probably damaging Het
Nxph3 T C 11: 95,402,082 (GRCm39) T111A possibly damaging Het
Obscn T A 11: 58,929,441 (GRCm39) E6061V probably damaging Het
Obsl1 C A 1: 75,469,571 (GRCm39) G1149W probably damaging Het
Or14c39 A G 7: 86,344,068 (GRCm39) T135A probably benign Het
Or2k2 A T 4: 58,784,981 (GRCm39) V247E probably damaging Het
Or2p2 T A 13: 21,256,544 (GRCm39) Y309F probably benign Het
Or5b123 A G 19: 13,596,849 (GRCm39) T65A probably benign Het
Or5d14 C T 2: 87,880,756 (GRCm39) V71I possibly damaging Het
Or5p68 A C 7: 107,946,121 (GRCm39) D22E probably benign Het
Or6c70 T A 10: 129,710,415 (GRCm39) L70F possibly damaging Het
Pde9a T C 17: 31,674,080 (GRCm39) V55A probably damaging Het
Pip4k2c A T 10: 127,041,690 (GRCm39) probably null Het
Plvap T C 8: 71,964,026 (GRCm39) N112S probably damaging Het
Pop1 T A 15: 34,530,004 (GRCm39) probably null Het
Ppip5k2 T C 1: 97,644,278 (GRCm39) H1113R possibly damaging Het
Ptprk A T 10: 28,449,388 (GRCm39) I962F probably damaging Het
Rad51ap2 T C 12: 11,507,043 (GRCm39) S322P possibly damaging Het
Rasal1 A G 5: 120,812,670 (GRCm39) T565A probably benign Het
Rbm15 C A 3: 107,238,471 (GRCm39) R642S probably damaging Het
Rpsa G A 9: 119,960,069 (GRCm39) E211K possibly damaging Het
Ryr3 A G 2: 112,517,155 (GRCm39) S3303P probably damaging Het
Scg2 T A 1: 79,413,229 (GRCm39) N458I possibly damaging Het
Setx A G 2: 29,069,655 (GRCm39) T2487A probably benign Het
Slc4a5 G A 6: 83,244,549 (GRCm39) probably benign Het
Slc8a2 T A 7: 15,874,914 (GRCm39) D387E probably benign Het
Smarcc2 A G 10: 128,310,591 (GRCm39) T407A probably benign Het
Snap25 A G 2: 136,619,384 (GRCm39) D179G probably damaging Het
Socs4 T C 14: 47,527,325 (GRCm39) S74P probably benign Het
Sp6 T A 11: 96,912,751 (GRCm39) Y155N probably benign Het
Srrt C T 5: 137,294,389 (GRCm39) probably benign Het
Steap1 C T 5: 5,786,431 (GRCm39) M335I probably benign Het
Stra6 A T 9: 58,052,772 (GRCm39) Y250F probably benign Het
Svil T C 18: 5,094,582 (GRCm39) S1421P probably damaging Het
Tcea3 G A 4: 135,998,677 (GRCm39) C317Y probably damaging Het
Tmco6 T C 18: 36,870,757 (GRCm39) L117S probably damaging Het
Trp53bp1 T C 2: 121,100,718 (GRCm39) K89E probably damaging Het
Trp63 T A 16: 25,583,052 (GRCm39) probably benign Het
Ube2d2a A G 18: 35,933,185 (GRCm39) Y74C probably damaging Het
Usp19 T G 9: 108,375,708 (GRCm39) F885V probably damaging Het
Utp18 T A 11: 93,773,003 (GRCm39) probably benign Het
Vmn2r116 T C 17: 23,620,387 (GRCm39) I707T possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Zfp318 C T 17: 46,723,540 (GRCm39) P1848S probably benign Het
Zfp984 G T 4: 147,839,722 (GRCm39) N376K 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
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
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
Predicted Primers PCR Primer
(F):5'- CTCCAACCTGTATTCGGAGATGTCG -3'
(R):5'- ACCTCTCAGGGAAAGAACAGTGGC -3'

Sequencing Primer
(F):5'- TTAGTCATTACACCGAGATGAGAGC -3'
(R):5'- GCTGCACTAATGACACTCTTGAC -3'
Posted On 2013-05-23